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角蛋白及肝脏及胰腺疾病关系的基础及临床及研究.pdf86页
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中山大学 博士学位论文
角蛋白与肝脏及胰腺疾病关系的基础与临床研究 姓名：钟碧慧 申请学位级别：博士 专业：内科学 指导教师：陈F湖 座机电话号码 角蛋白与肝脏及胰腺疾病关系的基础与临床研究 博士学位论文 角蛋白与肝脏及胰腺疾病关系的基础与临床研究 博士研究生：钟碧慧 导 师：陈曼湖教授 中山大学附属第一医院消化内科 摘要 细胞结构的完整有赖于细胞骨架蛋白维系，中间丝是细胞骨架蛋白三大家族之
一，不仅具有重要的细胞保护功能而且也与人类疾病密切相关，目前己发现中间丝蛋 白变异可导致或易发30多种人类疾病1。 角蛋白是中间丝家族最重要和最大的成员，在毛发、指甲、口腔丝状乳头表达者
为“硬”性角蛋白，而存在于表皮和许多内脏器官或体腔上皮者属“软”性角蛋白。
据最新报道2，已发现人类共有54个角蛋白功能基因，分为酸性 类型I 和碱性 类型
能基因属类型II，其中包括K卜8。角蛋白由头、杆及尾部组成，所有上皮细胞至少表
达一种I型和一种II型的角蛋白单体“”，以独特的成对方式存在在真核细胞，并具
组织特异性，例如单层分泌上皮细胞如肝脏、外分泌胰腺和小肠主要表达K8和K18
及小量K7／K18“10。除了维持细胞机械性完整外5’‘”1’”，角蛋白还参与许多细胞的
重要生物学功能，包括细胞分裂、运动、对压力的反应、囊泡的转运、减少对凋亡的
易感性等“”。磷酸化是角蛋白的主要调节方式，如调节角蛋白纤维丝的重组、可溶
性及与协调蛋白间的相互作用。“’4”。 角蛋白与肝脏及胰腺疾病关系的基础与临床研究 博士学位论文 动物模型的建立和对人类疾病的研究已证明角蛋白变异对皮肤及其附属器、口
腔、角膜等
正在加载中，请稍后...AceView: product:CHD3.bAug10, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView.
Homo sapiens
chromodomain helicase DNA binding protein 3 like family member (226.6 kD) () alternative variant bAug10, mRNA.
This complete CDS mRNA is
long. It is reconstructed from 2 . It is a composite of similar variants differing only in the length of their s: there are 2 alternative polyadenylation sites.
The premessenger has 40
and covers
on the NCBI 37, August 2010 genome. The predicted protein has
(226.6 kDa, pI 7.3). It is exactly encoded by , and with some amino-acid variations by
It contains one ,
2 coiled coil stretchs,
a leucine zipper domain [Psort2].
identify related proteins (threshold .001) in Eukaryota. Efficacy of translation of the protein is likely impaired, in a controlled fashion, by the presence of a shorter translated product
() initiating at an AUG upstream of the main open reading frame.
To mine knowledge about the gene, please click the
tab at the top of the page
Please choose between the ., and the .
This diagram shows in true scale the gene on the genome, the mRNAs and the cDNA clones.
The diagram shows in pink (the wide colored part is the best predicted protein, the thin empty parts are the UTRs), from 5' (top) to 3' (bottom), the AceView mRNA reconstructed from the GenBank cDNA sequences (in black to the right). are annotated in green Protein annotations are displayed to the left.
On the pink mRNA are indicated, as wide boxes, the predicted protein(s), colored according to their protein coding score (pink for good, blue for less good, yellow for dubious), are annotated in green, the untranslated regions (UTRs, thin and empty), and the eventual validated 5' and 3' ends (flags down or up). Introns have been spliced out, leaving triangles behind.
To the right of the mRNA are the GenBank sequences matching and defining the transcript. Any mismatch with the local genome sequence is color coded (red for single base variation, blue for single base insertion or deletion). Single nucleotide polymorphisms or errors in the genome sequence appear as a line across multiple cDNAs. The sign 0 at a 5' end indicates a putative cap-site (start of transcription), circles at the 3' end poly A sequences. Some spurious internal priming and other defects in the cDNAs are annotated with a red dot below the sequence (but the flags on the mRNA pink diagram are our best guess at validated 5' and 3' ends). Sequences highlighted in turquoise are the RefSeq NM, pink is the consensus of the cDNAs best matching the genome, pale yellow were submitted on the opposite (probably wrong) strand. More explanations are given in the . Mouse over provides details, clicking even more. Scale is in bases or kilobases (k).
2 selected cDNA clones support this mRNA
This table helps analyze the pattern of expression of the mRNA, the tissue, cell type or disease state specificity of the alternative variants and to select cDNA clones suitable for your experiments.
cDNA accessionLinks to the sequence
From bpto bpin mRNA
From bpto bpin accs.
Clone encodes complete protein(with AA variation)
Anomaliesdetected byAceView
Accessionmatch over(% length)
Base differences relative to genome(% identity)
RefSeq, AAA
Possibly primed on the genome, locally A rich (12/12 A in genome downstream of last aligned base)
0 diff(100 %id)
tiling clone,
1 diff(100.0 %id)
All sequences, including the mRNA, the premessenger or transcription unit, the 5 kb upstream and the UTRs are clickable and link to their DNA content, individual introns and exons sequences are given
mRNA variant
mRNA matching the genome
Best predicted protein
Upstream sequence
Transcriptionunitpre-mRNA
Downstream sequence
>Conceptual protein CHD3.bAug10, 2007 aa, with exons in alternate blue green colors and red amino acids encoded at junctions
MKAADTVILWARSKNDQLRISFPPGLCWGDRMPDKDDIRLLPSALGVKKR
KRGPKKQKENKPGKPRKRKKRDSEEEFGSERDEYREKSESGGSEYGTGPG
RKRRRKHREKKEKKTKRRKKGEGDGGQKQVEQKSSATLLLTWGLEDVEHV
FSEEDYHTLTNYKAFSQFMRPLIAKKNPKIPMSKMMTILGAKWREFSANN
PFKGSAAAVAAAAAAAAAAVAEQVSAAVSSATPIAPSGPPALPPPPAADI
QPPPIRRAKTKEGKGPGHKRRSKSPRVPDGRKKLRGKKMAPLKIKLGLLG
GKRKKGGSYVFQSDEGPEPEAEESDLDSGSVHSASGRPDGPVRTKKLKRG
RPGRKKKKVLGCPAVAGEEEVDGYETDHQDYCEVCQQGGEIILCDTCPRA
YHLVCLDPELDRAPEGKWSCPHCEKEGVQWEAKEEEEEYEEEGEEEGEKE
EEDDHMEYCRVCKDGGELLCCDACISSYHIHCLNPPLPDIPNGEWLCPRC
TCPVLKGRVQKILHWRWGEPPVAVPAPQQADGNPDVPPPRPLQGRSEREF
FVKWVGLSYWHCSWAKELQLEIFHLVMYRNYQRKNDMDEPPPLDYGSGED
DGKSDKRKVKDPHYAEMEEKYYRFGIKPEWMTVHRIINHSVDKKGNYHYL
VKWRDLPYDQSTWEEDEMNIPEYEEHKQSYWRHRELIMGEDPAQPRKYKK
KKKELQGDGPPSSPTNDPTVKYETQPRFITATGGTLHMYQLEGLNWLRFS
WAQGTDTILADEMGLGKTIQTIVFLYSLYKEGHTKGPFLVSAPLSTIINW
EREFQMWAPKFYVVTYTGDKDSRAIIRENEFSFEDNAIKGGKKAFKMKRE
AQVKFHVLLTSYELITIDQAALGSIRWACLVVDEAHRLKNNQSKFFRVLN
GYKIDHKLLLTGTPLQNNLEELFHLLNFLTPERFNNLEGFLEEFADISKE
DQIKKLHDLLGPHMLRRLKADVFKNMPAKTELIVRVELSPMQKKYYKYIL
TRNFEALNSRGGGNQVSLLNIMMDLKKCCNHPYLFPVAAMESPKLPSGAY
EGGALIKSSGKLMLLQKMLRKLKEQGHRVLIFSQMTKMLDLLEDFLDYEG
YKYERIDGGITGALRQEAIDRFNAPGAQQFCFLLSTRAGGLGINLATADT
VIIFDSDWNPHNDIQAFSRAHRIGQANKVMIYRFVTRASVEERITQVAKR
KMMLTHLVVRPGLGSKAGSMSKQELDDILKFGTEELFKDENEGENKEEDS
SVIHYDNEAIARLLDRNQDATEDTDVQNMNEYLSSFKVAQYVVREEDKIE
EIEREIIKQEENVDPDYWEKLLRHHYEQQQEDLARNLGKGKRVRKQVNYN
DAAQEDQDNQSEYSVGSEEEDEDFDERPEGRRQSKRQLRNEKDKPLPPLL
ARVGGNIEVLGFNTRQRKAFLNAVMRWGMPPQDAFTTQWLVRDLRGKTEK
EFKAYVSLFMRHLCEPGADGSETFADGVPREGLSRQQVLTRIGVMSLVKK
KVQEFEHINGRWSMPELMPDPSADSKRSSRASSPTKTSPTTPEASATNSP
CTSKPATPAPSEKGEGIRTPLEKEEAENQEEKPEKNSRIGEKMETEADAP
SPAPSLGERLEPRKIPLEDEVPGVPGEMEPEPGYRGDREKSATESTPGER
GEEKPLDGQEHRERPEGETGDLGKREDVKGDRELRPGPRDEPRSNGRREE
KTEKPRFMFNIADGGFTELHTLWQNEERAAISSGKLNEIWHRRHDYWLLA
GIVLHGYARWQDIQNDAQFAIINEPFKTEANKGNFLEMKNKFLARRFKLL
EQALVIEEQLRRAAYLNLSQEPAHPAMALHARFAEAECLAESHQHLSKES
LAGNKPANAVLHKVLNQLEELLSDMKADVTRLPATLSRIPPIAARLQMSE
RSILSRLASKGTEPHPTPAYPPGPYATPPGYGAAFSAAPVGALAAAGANY
SQMPAGSFITAATNGPPVLVKKEKEMVGALVSDGLDRKEPRAGEVICIDD
>mRNA CHD3.bAug10, 7325 bp with coding in upper case and exons in alternate colors
atatggaggtgaagggtgagatcgggaaacaaagggtatggccccctagttcccaaagggagcagggagatgggaatagaattgaaggtaggttttaggc
tacttgggaggaggaatatttaggtaattgtggagactttctcctgtgtgATGAAGGCGGCAGACACTGTGATCCTGTGGGCAAGAAGTAAAAATGACCA
GCTGAGGATTTCTTTTCCTCCAGGACTGTGTTGGGGTGACAGGATGCCTGATAAGGATGACATTCGGCTGCTGCCGTCAGCATTGGGTGTGAAGAAGAGA
AAACGAGGACCCAAGAAGCAGAAGGAGAACAAGCCAGGAAAACCCCGAAAACGCAAGAAGCGTGACAGTGAGGAGGAATTTGGTTCTGAGCGAGATGAGT
ACCGGGAGAAGTCAGAGAGTGGGGGCAGTGAATATGGAACCGGACCGGGTCGGAAACGAAGAAGGAAGCACCGAGAAAAAAAGGAGAAGAAGACAAAGCG
GCGGAAAAAGGGGGAGGGAGATGGGGGGCAAAAGCAAGTGGAACAGAAGTCATCAGCAACTCTGCTTCTGACCTGGGGCCTGGAGGATGTGGAGCATGTG
TTCTCTGAGGAGGATTACCACACGCTCACCAACTACAAAGCCTTCAGCCAGTTCATGAGGCCCCTAATTGCTAAGAAGAATCCTAAGATCCCAATGTCTA
AGATGATGACCATCCTTGGGGCCAAATGGAGAGAGTTCAGTGCCAACAACCCCTTCAAGGGGTCAGCAGCTGCTGTGGCGGCGGCAGCGGCAGCAGCAGC
AGCAGCTGTAGCTGAGCAGGTGTCAGCTGCTGTCTCGTCGGCCACCCCCATAGCACCCTCCGGACCCCCCGCCCTTCCACCACCCCCTGCTGCTGATATC
CAGCCCCCACCCATCCGAAGAGCCAAAACCAAAGAGGGCAAAGGTCCAGGCCATAAGAGGCGGAGTAAGAGCCCCCGAGTGCCTGATGGACGCAAGAAGC
TTCGGGGAAAGAAAATGGCACCACTCAAAATAAAACTAGGGCTTCTGGGTGGCAAGAGGAAGAAAGGAGGCTCGTATGTTTTTCAGAGCGACGAAGGTCC
TGAACCAGAGGCTGAGGAATCAGACCTGGACAGTGGCAGTGTCCACAGTGCCTCAGGCCGGCCTGATGGCCCTGTCCGCACCAAGAAACTAAAGAGAGGC
CGGCCAGGAAGGAAGAAGAAGAAGGTCCTGGGCTGTCCTGCAGTGGCCGGGGAGGAGGAGGTTGATGGCTACGAGACGGATCACCAGGATTACTGTGAGG
TGTGCCAGCAGGGTGGGGAAATTATTCTGTGTGACACCTGCCCTCGTGCCTACCACCTCGTCTGCCTTGATCCTGAGCTTGACCGGGCTCCAGAGGGCAA
ATGGAGCTGCCCTCACTGTGAGAAGGAGGGGGTCCAGTGGGAGGCCAAGGAGGAAGAAGAAGAATACGAAGAGGAGGGAGAGGAAGAAGGGGAGAAGGAG
GAGGAGGATGATCACATGGAGTACTGCCGCGTATGCAAGGACGGCGGGGAGCTCCTGTGCTGTGACGCGTGCATCTCCTCCTACCACATTCATTGTCTAA
ACCCTCCCCTGCCTGACATTCCCAATGGTGAATGGCTGTGTCCCCGATGCACATGCCCCGTGCTGAAGGGTCGAGTGCAGAAGATCCTACATTGGCGGTG
GGGGGAGCCACCTGTAGCAGTGCCAGCCCCTCAACAGGCAGATGGAAATCCAGATGTCCCACCCCCCCGTCCTCTTCAAGGCAGATCAGAGCGAGAGTTC
TTTGTCAAGTGGGTAGGACTATCCTACTGGCACTGCTCCTGGGCCAAGGAGCTTCAGCTGGAAATCTTCCATTTGGTTATGTATCGAAACTACCAGCGGA
AGAATGACATGGATGAGCCCCCACCCCTGGACTATGGCTCCGGCGAGGATGATGGGAAGAGCGACAAGCGTAAAGTGAAAGACCCGCACTATGCTGAGAT
GGAGGAGAAGTACTATCGTTTTGGCATCAAGCCAGAGTGGATGACCGTCCACCGCATCATCAACCACAGTGTGGATAAAAAGGGGAATTACCACTATCTA
GTAAAATGGAGGGACTTACCATATGACCAGTCCACGTGGGAGGAAGATGAAATGAATATCCCTGAATACGAAGAACATAAGCAAAGCTACTGGAGACACC
GAGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAGAAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGA
TCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCC
TGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGGCCACA
CAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACAC
GGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGAGGGAG
GCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATG
AGGCCCATCGACTCAAGAACAACCAGTCCAAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAA
TAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAACAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAG
GACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCG
TTCGGGTGGAGCTAAGCCCCATGCAGAAGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTC
GCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGAGTCCCCCAAACTCCCCAGTGGGGCTTAT
GAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGC
AGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGA
GGCCATCGATCGGTTTAATGCTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGCCTGGGCATCAATCTGGCCACTGCTGACACT
GTCATCATCTTTGATTCTGACTGGAACCCCCATAATGACATCCAGGCCTTTAGCCGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATGATTTACCGGT
TTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGAAAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGC
AGGCTCCATGTCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAAAACGAGGGGGAGAACAAGGAGGAGGACAGC
AGTGTGATTCATTATGACAATGAGGCCATCGCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAATGAGTATCTCA
GCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAGATTGAGGAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTA
CTGGGAGAAGCTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGCAAGCGGGTTCGCAAGCAAGTTAACTACAAT
GATGCTGCTCAGGAAGACCAAGACAACCAGTCAGAGTACTCGGTGGGTTCAGAGGAGGAGGATGAAGACTTCGATGAACGTCCTGAAGGGCGTAGACAGT
CAAAGAGGCAGCTCCGGAATGAGAAAGATAAGCCACTGCCTCCACTGCTGGCCCGAGTCGGGGGCAACATTGAGGTGCTGGGCTTCAACACCCGTCAGCG
GAAGGCTTTCCTCAATGCTGTGATGCGCTGGGGGATGCCACCACAGGATGCCTTCACCACACAGTGGCTGGTGCGGGACCTGAGGGGCAAGACTGAGAAG
GAGTTTAAGGCCTATGTGTCTTTGTTCATGCGCCATCTGTGTGAGCCTGGGGCAGACGGCTCTGAAACCTTTGCCGATGGGGTCCCTCGGGAGGGACTGA
GTCGCCAGCAGGTGTTGACCCGCATTGGAGTCATGTCTCTCGTCAAAAAGAAGGTGCAGGAGTTTGAGCACATCAATGGGCGTTGGTCAATGCCGGAACT
GATGCCTGACCCCAGCGCCGATTCTAAGCGCTCCTCCAGAGCCTCCTCTCCTACCAAAACGTCTCCCACCACTCCTGAGGCTTCTGCTACCAACAGTCCC
TGCACCTCTAAACCTGCTACTCCAGCTCCAAGTGAGAAAGGAGAAGGCATAAGGACACCTCTTGAGAAGGAGGAAGCTGAAAACCAGGAGGAAAAGCCAG
AGAAGAACAGCAGAATTGGGGAGAAGATGGAGACAGAGGCTGATGCCCCCAGCCCAGCCCCATCACTTGGGGAGCGGCTGGAGCCAAGGAAGATTCCTCT
AGAGGATGAGGTGCCAGGGGTGCCTGGAGAGATGGAGCCTGAACCTGGGTACCGTGGGGACAGAGAGAAGTCAGCCACAGAGTCGACGCCAGGAGAAAGG
GGGGAGGAGAAGCCGTTGGATGGACAGGAACACAGGGAGAGGCCGGAGGGGGAAACAGGGGATTTGGGCAAGAGAGAAGATGTAAAAGGTGACCGGGAGC
TTCGACCAGGGCCTCGAGATGAGCCACGGTCCAATGGGCGACGAGAGGAAAAGACAGAGAAGCCCCGGTTCATGTTCAATATCGCCGATGGTGGCTTCAC
AGAGCTTCACACACTGTGGCAGAATGAGGAACGGGCAGCTATTTCCTCGGGGAAACTCAATGAGATCTGGCACAGAAGACATGACTATTGGCTTCTGGCT
GGGATTGTCCTCCATGGCTATGCACGGTGGCAGGACATCCAGAATGATGCTCAATTTGCCATTATCAACGAGCCATTTAAAACTGAAGCCAATAAGGGGA
ACTTTCTGGAGATGAAAAATAAGTTCCTGGCCCGGAGGTTCAAGCTCCTGGAGCAGGCGCTGGTGATTGAGGAGCAGCTGCGGCGGGCGGCCTACCTGAA
CCTGTCGCAGGAGCCGGCGCACCCCGCCATGGCCCTCCACGCCCGCTTCGCCGAGGCCGAGTGCCTGGCCGAGAGCCACCAGCACCTCTCCAAGGAGTCG
CTGGCGGGGAACAAGCCGGCCAACGCCGTCCTGCACAAGGTTCTGAACCAGCTGGAGGAGTTGCTGAGCGACATGAAGGCGGACGTGACCCGCCTGCCAG
CCACGCTGTCCCGAATACCCCCCATCGCAGCCCGCCTTCAGATGTCCGAGCGCAGCATCCTCAGCCGGCTGGCCAGCAAGGGCACGGAGCCTCACCCCAC
ACCGGCCTACCCGCCGGGTCCCTACGCTACACCTCCGGGGTACGGGGCGGCCTTCAGCGCCGCACCCGTAGGGGCCCTGGCCGCCGCAGGCGCCAATTAC
AGCCAGATGCCTGCAGGGTCCTTCATCACAGCCGCCACCAACGGCCCTCCAGTGCTTGTGAAGAAGGAGAAGGAAATGGTGGGGGCATTGGTGTCAGACG
GGCTGGATCGGAAGGAGCCCCGAGCCGGGGAGGTGATCTGTATAGACGACTGActggatcccaggcctgcccttcacccaggccccgtccccgaggccga
cccccagctcaagcgctggggcctgctgccagccctccaccttccccaccccttgggccatcactgggctaggaacccctttgcccctctctgcagctcc
tctcttcaagaagggccctttgtctttctccactcccacacacctttcccaccaagccttgaagactgtgctggtgagaagaagtctgggtgggagatgg
ctggcagggtcttccaagtaccttcctcccacactgccaagtatacacaacttcccagtaaatggttgtggggaggaaagaggtggagcctccccagccg
tttccctgcagaatcagctctgtctcatgtggaagtggagaatcagccttgcctggcctttaggaacttttgtggggaagagagctttgaagagaggagg
gggactttagagagggatgaaaatgagccctgggagggaggaagggacgaggaggggtggctgcatgttaccgtcccctacctctccccacgtggagggt
ggagcagttatgagggaggaagtcaactgctgttcagcctcagaataaaggtgccgttcactggctcagttacctcctgtgtaccggcatcttgtgttgg
gaatgttcccccctccctagggaccaaggaccacccctacaaaaagagtaatggttgggtgatactccctcaagccaaagaggagctccccaacctgttc
tagggacccaggtaacctagaagggtgggagagaatacaatgggccagatgtggtggaagcccagctctggggctcaggttcctggaagacttctactac
cctccctcctcaaggcctggatacagactaaatttgtataagtcaggcaggggacctagtcagggtcttgggagctaccttgtcgttgggaccagagcaa
aatagtggagggcaggctagggaaatgtgggcacatcccccctcccaggaggggccggggagagtggcagtttgcatggcgaaccccccacttcctcttt
gctgccccttcactttcttgctgcccctttcccagtctctcttcacacccactcctggtctgtcctgatcccctcttctgtatcaggtttattggttgta
catataaattatactttcctttctg
mRNA variant
# of clones
5' completeness evidence
3' completeness evidence
coordinateson gene
coordinateson genome
validated polyA
4047 to27953
7792169 to7816075
contains about . There is an in frame stop in the 5'UTR 30 bp before the Met.
contains about
followed by the polyA. The standard AATAAA polyadenylation signal does not occur, but the variant TATAAA is seen about 23 bp before the polyA.
Validated poly A sites
Position on the gene
Position on the mRNA
Number of supporting accessions
Poly-A signal
Distance to poly-A site
bp 6771 on .b
bp 7325 on .b
Proteinquality
Exonsin CDS
Completenessand uniqueness
Extends from
coordinateson mRNA
minimal set ofsupporting clones
CHDCT2 (NUC038) domain, CHDNT (NUC034) domain, 'chromo' (CHRromatin Organisation MOdifier) domain, Domain of Unknown Function (DUF1086), Domain of Unknown Function (DUF1087), Helicase conserved C-terminal domain, PHD-finger, PHD-finger, SNF2 family N-terminal domain, coiled coil stretch, leucine zipper domain
Met (ATG) to Stop
151 to 6153
Upstream uORF
Sequences of exons and introns are available by clicking on the lengths in column 3. Red corresponds to exons or introns specific of mRNA variant bAug10.
in variant
Length& DNA
Coordinateson mRNA
Coordinateson gene
Coordinateson genome
Supportingclones
From tissue (# clones)
Alternative exon 1
4047 to 4296
7792169 to 7792418
Alternative intron 1 [gt-ag]
250 to 251
4297 to 4859
7792419 to 7792981
251 to 363
4860 to 4972
7792982 to 7793094
brain (1), fetal brain (1), insulinoma (1), pancreas (1)
Intron 2 [gt-ag]
363 to 364
4973 to 5766
7793095 to 7793888
brain (1), fetal brain (1), insulinoma (1), nervous tumor (1) and 2 other tissues
Alternative exon 3
364 to 534
5767 to 5937
7793889 to 7794059
brain (1), fetal brain (1)
Intron 3 [gt-ag]
534 to 535
5938 to 6135
7794060 to 7794257
brain (1), fetal brain (1), thymus (1), uterus (1)
535 to 659
6136 to 6260
7794258 to 7794382
brain (1), fetal brain (1), thymus (1), uterus (1)
Intron 4 [gt-ag]
659 to 660
6261 to 8481
7794383 to 7796603
brain (1), embryonic stem cells, embryoid bodiesderived from H1, H7 and H9 cells (1), fetal brain (1), thymus (1) and 2 other tissues
660 to 943
8482 to 8765
7796604 to 7796887
embryonic stem cells, embryoid bodiesderived from H1, H7 and H9 cells (1), thymus (1)
Intron 5 [gt-ag]
943 to 944
8766 to 9000
7796888 to 7797122
amygdala (1), brain (1), embryonic stem cells, embryoid bodiesderived from H1, H7 and H9 cells (1), eye (1) and 7 other tissues
Alternative exon 6
944 to 1074
9001 to 9131
7797123 to 7797253
amygdala (1), brain (1), embryonic stem cells, embryoid bodiesderived from H1, H7 and H9 cells (1), eye (1) and 7 other tissues
Alternative intron 6 [gt-ag]
1074 to 1075
9132 to 9310
7797254 to 7797432
prostate normal (2)
Alternative exon 7
1075 to 1225
9311 to 9461
7797433 to 7797583
prostate normal (2)
Alternative intron 7 [gt-ag]
1225 to 1226
9462 to 9610
7797584 to 7797732
amygdala (2), epidermoid carcinoma, cell line (2), lung (2), marrow (2) and 10 other tissues
Alternative exon 8
1226 to 1419
9611 to 9804
7797733 to 7797926
epidermoid carcinoma, cell line (2), lung (2), amygdala (1), eye (1) and 6 other tissues
Alternative intron 8 [gt-ag]
1419 to 1420
9805 to 10112
7797927 to 7798234
prostate (3), epidermoid carcinoma, cell line (2), lung (2), t-lymphocytes (2) and 7 other tissues
Alternative exon 9
1420 to 1653
10113 to 10346
7798235 to 7798468
epidermoid carcinoma, cell line (2), lung (2), amygdala (1), eye (1) and 5 other tissues
Intron 9 [gt-ag]
1653 to 1654
10347 to 10534
7798469 to 7798656
amygdala (2), epidermoid carcinoma, cell line (2), lung (2), eye (1) and 7 other tissues
1654 to 1857
10535 to 10738
7798657 to 7798860
epidermoid carcinoma, cell line (2), lung (2), amygdala (1), nervous normal (1) and 5 other tissues
Intron 10 [gt-ag]
1857 to 1858
10739 to 12278
7798861 to 7800400
epidermoid carcinoma, cell line (2), lung (2), t-lymphocytes (2), amygdala (1) and 10 other tissues
1858 to 2069
12279 to 12490
7800401 to 7800612
t-lymphocytes (2), colon ins (1), head neck (1), lung tumor (1) and 4 other tissues
Alternative intron 11 [gt-ag]
2069 to 2070
12491 to 13166
7800613 to 7801288
lung tumor (2), lymph (2), lymphoma, cell line (2), t-lymphocytes (2) and 6 other tissues
Alternative exon 12
2070 to 2201
13167 to 13298
7801289 to 7801420
lymph (2), lymphoma, cell line (2), colon ins (1), lung tumor (1) and 4 other tissues
Alternative intron 12 [gt-ag]
2201 to 2202
13299 to 13691
7801421 to 7801813
lymph (2), lymphoma, cell line (2), colon ins (1), hippocampus (1) and 5 other tissues
2202 to 2301
13692 to 13791
7801814 to 7801913
lymph (2), lymphoma, cell line (2), hippocampus (1), lung tumor (1) and 3 other tissues
Intron 13 [gt-ag]
2301 to 2302
13792 to 14206
7801914 to 7802328
lymph (2), lymphoma, cell line (2), head neck (1), hippocampus (1) and 5 other tissues
2302 to 2493
14207 to 14398
7802329 to 7802520
lymph (2), lymphoma, cell line (2), head neck (1), hippocampus (1) and 3 other tissues
Intron 14 [gt-ag]
2493 to 2494
14399 to 14538
7802521 to 7802660
lymph (2), lymphoma, cell line (2), head neck (1), hippocampus (1) and 4 other tissues
2494 to 2694
14539 to 14739
7802661 to 7802861
hippocampus (1), lymph (1), lymphoma, cell line (1), muscle (1)
Intron 15 [gt-ag]
2694 to 2695
14740 to 15091
7802862 to 7803213
brain (1), hippocampus (1), lymph (1), lymphoma, cell line (1) and 2 other tissues
2695 to 2832
15092 to 15229
7803214 to 7803351
brain (1), lymph (1), lymphoma, cell line (1), muscle (1)
Intron 16 [gt-ag]
2832 to 2833
15230 to 15485
7803352 to 7803607
brain (1), lymph (1), lymphoma, cell line (1), muscle (1) and 2 other tissues
Alternative exon 17
2833 to 2954
15486 to 15607
7803608 to 7803729
brain (1), lymph (1), lymphoma, cell line (1), muscle (1) and 2 other tissues
Intron 17 [gt-ag]
2954 to 2955
15608 to 15753
7803730 to 7803875
brain (3), cerebellum (2), lung tumor (2), embryonic stem cells, dmso-treated H9 cellline (1) and 7 other tissues
Alternative exon 18
2955 to 3128
15754 to 15927
7803876 to 7804049
brain (2), cerebellum (2), lung tumor (2), embryonic stem cells, dmso-treated H9 cellline (1) and 4 other tissues
Intron 18 [gt-ag]
3128 to 3129
15928 to 16047
7804050 to 7804169
lung tumor (3), brain (2), cerebellum (2), lymph (2) and 11 other tissues
Alternative exon 19
3129 to 3270
16048 to 16189
7804170 to 7804311
brain (2), cerebellum (2), lymph (2), bocio tumor (1) and 10 other tissues
Intron 19 [gt-ag]
3270 to 3271
16190 to 16439
7804312 to 7804561
brain (5), amygdala (3), cerebellum (3), hippocampus (3) and 17 other tissues
3271 to 3402
16440 to 16571
7804562 to 7804693
brain (5), amygdala (3), cerebellum (3), hippocampus (3) and 13 other tissues
Intron 20 [gt-ag]
3402 to 3403
16572 to 17805
7804694 to 7805927
brain (5), amygdala (3), cerebellum (3), hippocampus (3) and 16 other tissues
Alternative exon 21
3403 to 3520
17806 to 17923
7805928 to 7806045
amygdala (3), brain (3), hippocampus (3), uterus (3) and 13 other tissues
Intron 21 [gt-ag]
3520 to 3521
17924 to 18132
7806046 to 7806254
hippocampus (4), amygdala (3), brain (3), tongue, tumor tissue (3) and 14 other tissues
3521 to 3645
18133 to 18257
7806255 to 7806379
amygdala (3), brain (3), hippocampus (3), tongue, tumor tissue (3) and 12 other tissues
Intron 22 [gt-ag]
3645 to 3646
18258 to 18467
7806380 to 7806589
brain (4), amygdala (3), hippocampus (3), tongue, tumor tissue (3) and 18 other tissues
Alternative exon 23
3646 to 3877
18468 to 18699
7806590 to 7806821
tongue, tumor tissue (3), embryonic stem cells, embryoid bodiesderived from H1, H7 and H9 cells (2), lung (2), uterus (2) and 12 other tissues
Alternative intron 23 [gt-ag]
3877 to 3878
18700 to 19020
7806822 to 7807142
thymus (6), testis (4), tongue, tumor tissue (4), brain (3) and 28 other tissues
Alternative exon 24
3878 to 4044
19021 to 19187
7807143 to 7807309
thymus (7), testis (4), brain (3), nervous normal (3) and 19 other tissues
Alternative intron 24 [gt-ag]
4044 to 4045
19188 to 19637
7807310 to 7807759
thymus (7), brain (5), testis (5), breast (3) and 23 other tissues
Alternative exon 25
4045 to 4222
19638 to 19815
7807760 to 7807937
thymus (7), brain (3), testis (3), tongue, tumor tissue (3) and 21 other tissues
Intron 25 [gt-ag]
4222 to 4223
19816 to 20295
7807938 to 7808417
thymus (8), brain (6), testis (4), cerebellum (3) and 34 other tissues
Alternative exon 26
4223 to 4288
20296 to 20361
7808418 to 7808483
thymus (7), brain (5), testis (4), lung (3) and 28 other tissues
Alternative intron 26 [gt-ag]
4288 to 4289
20362 to 20816
7808484 to 7808938
thymus (7), brain (6), testis (5), cerebellum (3) and 29 other tissues
Alternative exon 27
4289 to 4374
20817 to 20902
7808939 to 7809024
brain (5), testis (4), thymus (4), cerebellum (3) and 26 other tissues
Alternative intron 27 [gt-ag]
4374 to 4375
20903 to 21051
7809025 to 7809173
brain (7), testis (4), thymus (4), cerebellum (3) and 26 other tissues
Alternative exon 28
4375 to 4508
21052 to 21185
7809174 to 7809307
brain (6), testis (4), cerebellum (3), adenocarcinoma, cell line (2) and 24 other tissues
Alternative intron 28 [gt-ag]
4508 to 4509
21186 to 21748
7809308 to 7809870
brain (6), testis (4), adenocarcinoma, cell line (3), cerebellum (3) and 26 other tissues
4509 to 4653
21749 to 21893
7809871 to 7810015
adenocarcinoma, cell line (3), brain (3), liver (3), testis (3) and 22 other tissues
Intron 29 [gt-ag]
4653 to 4654
21894 to 22064
7810016 to 7810186
brain (5), lymph (4), lymphoma, cell line (4), testis (4) and 26 other tissues
Alternative exon 30
4654 to 4816
22065 to 22227
7810187 to 7810349
brain (4), lymph (4), lymphoma, cell line (4), testis (4) and 21 other tissues
Intron 30 [gt-ag]
4816 to 4817
22228 to 22321
7810350 to 7810443
brain (5), pancreas (5), lymph (4), lymphoma, cell line (4) and 26 other tissues
Alternative exon 31
4817 to 4938
22322 to 22443
7810444 to 7810565
pancreas (5), brain (4), lung (3), lymph (3) and 23 other tissues
Intron 31 [gt-ag]
4938 to 4939
22444 to 22548
7810566 to 7810670
pancreas (5), brain (4), testis (4), embryonal carcinoma, cell line (3) and 25 other tissues
Alternative exon 32
4939 to 5074
22549 to 22684
7810671 to 7810806
pancreas (5), brain (4), testis (4), embryonal carcinoma, cell line (3) and 23 other tissues
Alternative intron 32 [gt-ag]
5074 to 5075
22685 to 22796
7810807 to 7810918
pancreas (5), brain (3), lymph (3), lymphoma, cell line (3) and 18 other tissues
Alternative exon 33
5075 to 5176
22797 to 22898
7810919 to 7811020
pancreas (5), lymph (3), lymphoma, cell line (3), purified pancreatic islet (3) and 15 other tissues
Alternative intron 33 [gt-ag]
5176 to 5177
22899 to 23089
7811021 to 7811211
pancreas (5), lymph (3), lymphoma, cell line (3), purified pancreatic islet (3) and 15 other tissues
Alternative exon 34
5177 to 5302
23090 to 23215
7811212 to 7811337
embryonal carcinoma, cell line (3), lymph (3), lymphoma, cell line (3), testis (3) and 19 other tissues
Alternative intron 34 [gt-ag]
5302 to 5303
23216 to 23597
7811338 to 7811719
testis (7), embryonal carcinoma, cell line (6), brain (4), lung (4) and 36 other tissues
Alternative exon 35
5303 to 5411
23598 to 23706
7811720 to 7811828
testis (7), embryonal carcinoma, cell line (6), lung (4), astrocytoma grade IV, cell line (2) and 32 other tissues
Alternative intron 35 [gt-ag]
5411 to 5412
23707 to 23892
7811829 to 7812014
testis (7), embryonal carcinoma, cell line (6), lung (4), brain (3) and 33 other tissues
Alternative exon 36
5412 to 5544
23893 to 24025
7812015 to 7812147
testis (7), embryonal carcinoma, cell line (6), brain (3), lung (3) and 33 other tissues
Intron 36 [gt-ag]
5544 to 5545
24026 to 24338
7812148 to 7812460
testis (6), embryonal carcinoma, cell line (5), brain (3), lung (3) and 35 other tissues
Alternative exon 37
5545 to 5740
24339 to 24534
7812461 to 7812656
testis (3), whole embryo, mainly head (3), embryonal carcinoma, cell line (2), lung (2) and 15 other tissues
Alternative intron 37 [gt-ag]
5740 to 5741
24535 to 25623
7812657 to 7813745
testis (4), embryonal carcinoma, cell line (3), whole embryo, mainly head (3), tongue, tumor tissue (2) and 16 other tissues
Alternative exon 38
5741 to 5904
25624 to 25787
7813746 to 7813909
brain (3), testis (3), whole embryo, mainly head (3), astrocytoma grade IV, cell line (2) and 21 other tissues
Alternative intron 38 [gt-ag]
5904 to 5905
25788 to 26042
7813910 to 7814164
brain (6), lung (4), testis (4), epidermoid carcinoma, cell line (3) and 31 other tissues
Alternative exon 39
5905 to 6031
26043 to 26169
7814165 to 7814291
testis (4), brain (3), embryonal carcinoma, cell line (2), epidermoid carcinoma, cell line (2) and 24 other tissues
Intron 39 [gt-ag]
6031 to 6032
26170 to 26659
7814292 to 7814781
testis (4), brain (3), embryonal carcinoma, cell line (2), epidermoid carcinoma, cell line (2) and 25 other tissues
Alternative exon 40
6032 to 7325
26660 to 27953
7814782 to 7816075
The protein sequence is predicted from the mRNA confirmation of the protein's existence and extent will require more protein sequence data. We annotate here the sequence derived from the genome, although the best path through the available clones differs from it in 1 position, which may be SNPs, sequencing errors, or mutations (link to the ).
1 minor protein, annotated here (uORF , in pale blue or yellow) can conceptually be deduced from this mRNA sequence and might possibly be translated in vivo.
The complete protein encoded between the first Met (atg) and the stop codon contains
residues. The calculated molecular weight of the protein is 226.6 kDa, its isoelectric point 7.3.
PSORT II analysis, (K. Nakai) trained on yeast data predicts that the subcellular location of this protein is most likely in the nucleus (43%) or in the cytoplasm (30%). Less likely possibilities are in the cytoskeleton (8%) or secreted (4%) or in vesicles of the secretory system (4%) or in the plasma membrane (4%) or in the mitochondria (4%).
The following domains were found:
Possible nuclear localization
Possible nuclear localization
Possible nuclear localization
KRGPKKQKENKPGKPRK
Possible nuclear localization
Possible nuclear localization
KKQKENKPGKPRKRKKR
Possible nuclear localization
Possible nuclear localization
Possible nuclear localization
Possible nuclear localization
Possible nuclear localization
Possible nuclear localization
Possible nuclear localization
101 to 117
Possible nuclear localization
RKRRRKHREKKEKKTKR
102 to 118
Possible nuclear localization
KRRRKHREKKEKKTKRR
103 to 119
Possible nuclear localization
RRRKHREKKEKKTKRRK
104 to 120
Possible nuclear localization
RRKHREKKEKKTKRRKK
105 to 121
Possible nuclear localization
RKHREKKEKKTKRRKKG
116 to 119
Possible nuclear localization
117 to 120
Possible nuclear localization
138 to 139
253 to 259
Possible nuclear localization
254 to 260
Possible nuclear localization
256 to 272
Possible nuclear localization
RRAKTKEGKGPGHKRRS
266 to 272
Possible nuclear localization
268 to 271
Possible nuclear localization
269 to 285
Possible nuclear localization
KRRSKSPRVPDGRKKLR
270 to 286
Possible nuclear localization
RRSKSPRVPDGRKKLRG
278 to 284
Possible nuclear localization
302 to 305
Possible nuclear localization
341 to 347
Possible nuclear localization
352 to 358
Possible nuclear localization
354 to 357
Possible nuclear localization
355 to 358
Possible nuclear localization
695 to 701
Possible nuclear localization
699 to 702
Possible nuclear localization
700 to 703
Possible nuclear localization
908 to 929
LLLTGTPLQNNLEELFHLLNFL
954 to 970
Possible nuclear localization
KKLHDLLGPHMLRRLKA
1286 to 1313
KVAQYVVREEDKIEEIEREIIKQEENVD
1785 to 1812
LEMKNKFLARRFKLLEQALVIEEQLRRA
Pfam analysis () run on Jan 31, 2011, shows a significant hit to the
from 147 to 201, with score 133 and E = 8.23671e-38.
other genes /, / in the database also contain this motif
There are also 2 significant hits to the .
from 381 to 426, with score 71 and E = 1.25154e-22 and.
from 458 to 503, with score 64 and E = 1.25154e-22.
other genes in the database also contain this motif
There is also a significant hit to the
from 631 to 683, with score 53 and E = 3.86473e-15.
other genes in the database also contain this motif
There is also a significant hit to the
from 739 to 1035, with score 368 and E = 1.4.
other genes in the database also contain this motif
There is also a significant hit to the
from 1095 to 1174, with score 97 and E = 1.51981e-27.
other genes in the database also contain this motif
There is also a significant hit to the
from 1293 to 1357, with score 111 and E = 1.26236e-30.
other genes /, / in the database also contain this motif
There is also a significant hit to the
from 1363 to 1519, with score 318 and E = 1.65787e-92.
other genes /, / in the database also contain this motif
There is also a significant hit to the
from 1735 to 1907, with score 426 and E = 5.3.
other genes /, / in the database also contain this motif
BlastP analysis was run at
against the nr database on Jan 31, 2011, and identified 1052 hits with E value better than 0.001. The best hits are.
from aa to aa
blastP Hit Title [species] eValue links to GenBank
from aa to aa
34 to 2000
93 to 2059
34 to 2000
79 to 2045
34 to 2000
12 to 1977
34 to 2000
86 to 2055
72 to 2000
28 to 1959
91 to 2046
72 to 2000
22 to 1945
34 to 2000
112 to 2047
34 to 2000
86 to 2021
72 to 2000
28 to 1925
72 to 2000
27 to 1924
43 to 2000
169 to 2000
169 to 2000
36 to 2000
209 to 2131
43 to 1960
34 to 2000
28 to 1910
35 to 1799
34 to 1794
1958 to 2000
1804 to 1846
34 to 1518
24 to 1508
1602 to 2000
1520 to 1916
134 to 1910
136 to 1867
134 to 1910
134 to 1913
134 to 1910
136 to 1904
134 to 1910
136 to 1904
134 to 1910
108 to 1876
The closest mouse gene, according to BlastP, is the AceView gene
The closest C.elegans genes, according to BlastP, are the AceView/WormGenes
(e=0.0), which may contain interesting functional annotation.
The closest A.thaliana gene, according to BlastP, is the AceView gene
(e=0.0), which may contain interesting functional annotation.
Based on TaxBlast (BlastP E < .001) related proteins are found in the following organism(s):
Eukaryota 1028 hits.
--Mycetozoa 3 hits.
----Dictyostelium discoideum 2 hits.
----Other Mycetozoa 1 hit.
--Viridiplantae 129 hits.
----Arabidopsis thaliana 19 hits, best hit: .
----Other Viridiplantae 110 hits.
--Fungi Metazoa group 884 hits.
----Fungi 58 hits.
------Saccharomyces cerevisiae 8 hits, best hit: .
------Schizosaccharomyces pombe 7 hits, best hit: .
------Other Fungi 43 hits.
----Metazoa 826 hits.
------Bilateria 811 hits.
--------Pseudocoelomata 45 hits.
----------Caenorhabditis elegans 18 hits, best hit: .
----------Other Pseudocoelomata 27 hits.
--------Protostomia 219 hits.
----------Panarthropoda 219 hits.
------------Drosophila melanogaster 41 hits, best hit: .
------------Other Panarthropoda 178 hits.
--------Deuterostomia 528 hits.
----------Echinodermata 6 hits.
----------Chordata 522 hits.
------------Teleoste 21 hits.
--------------Danio rerio 21 hits, best hit: .
------------Amphibia 20 hits.
--------------Xenopus laevis 6 hits, best hit: .
--------------Other Amphibia 14 hits.
------------Amniota 472 hits.
--------------Mammalia 446 hits.
----------------Eutheria 430 hits.
------------------Mus musculus 55 hits, best hit: .
------------------Rattus norvegicus 41 hits, best hit: .
------------------Homo sapiens 110 hits, best hit: .
------------------Other Eutheria 224 hits.
----------------Other Mammalia 16 hits.
--------------Other Amniota 26 hits.
------------Other Chordata 9 hits.
--------Other Bilateria 19 hits.
------Other Metazoa 15 hits.
--Other Eukaryota 12 hits
You may access from the top of the page or from here the
and other annotated mRNAs: , , , , , , , , , , , , , , , , , ,
, , , , , , , , , , , , , , , , , , ,
To mine knowledge about the gene, please click the 'Gene Summary' or the 'Function, regulation, related genes ' tab at the top of the page. The
page includes all we learnt about the gene, functional annotations of neighboring genes, maps, links to other sites and the bibliography. The
page includes Diseases (D), Pathways, GO annotations, conserved domains (C), interactions (I) reference into function, and pointers to all genes with the same functional annotation.
To compare alternative variants, their summarized annotations, predicted proteins, introns and exons, or to access any sequence, click the
tab. To see a specific mRNA variant diagram, sequence and annotation, click the variant name in the
tab. To examine expression data from all cDNAs clustered in this gene by AceView, click the .
If you know more about this gene, or found errors, please
your knowledge. Thank you !}