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2025-05-12 01:39:44, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001256282 1807 bp mRNA linear PRI 15-JUL-2013
DEFINITION Homo sapiens keratin 8 (KRT8), transcript variant 1, mRNA.
ACCESSION NM_001256282
VERSION NM_001256282.1 GI:372466571
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1807)
AUTHORS Fortier,A.M., Asselin,E. and Cadrin,M.
TITLE Keratin 8 and 18 loss in epithelial cancer cells increases
collective cell migration and cisplatin sensitivity through
claudin1 up-regulation
JOURNAL J. Biol. Chem. 288 (16), 11555-11571 (2013)
PUBMED 23449973
REMARK GeneRIF: K8/18 expression can influence the phenotype of epithelial
cancer cells at a transcriptional level and supports the hypothesis
that keratins play an active role in cancer progression.
REFERENCE 2 (bases 1 to 1807)
AUTHORS Mathew,J., Loranger,A., Gilbert,S., Faure,R. and Marceau,N.
TITLE Keratin 8/18 regulation of glucose metabolism in normal versus
cancerous hepatic cells through differential modulation of
hexokinase status and insulin signaling
JOURNAL Exp. Cell Res. 319 (4), 474-486 (2013)
PUBMED 23164509
REMARK GeneRIF: A key K8/K18 regulation of glucose metabolism in normal
and cancerous hepatic cells through differential modulations of
mitochondrial hexokinase status and insulin-mediated signaling.
REFERENCE 3 (bases 1 to 1807)
AUTHORS Snider,N.T., Leonard,J.M., Kwan,R., Griggs,N.W., Rui,L. and
Omary,M.B.
TITLE Glucose and SIRT2 reciprocally mediate the regulation of keratin 8
by lysine acetylation
JOURNAL J. Cell Biol. 200 (3), 241-247 (2013)
PUBMED 23358244
REMARK GeneRIF: K8 acetylation at Lys-207, a highly conserved residue
among type II keratins, is up-regulated upon hyperglycemia and
down-regulated by SIRT2.
REFERENCE 4 (bases 1 to 1807)
AUTHORS Iyer,S.V., Dange,P.P., Alam,H., Sawant,S.S., Ingle,A.D.,
Borges,A.M., Shirsat,N.V., Dalal,S.N. and Vaidya,M.M.
TITLE Understanding the role of keratins 8 and 18 in neoplastic potential
of breast cancer derived cell lines
JOURNAL PLoS ONE 8 (1), E53532 (2013)
PUBMED 23341946
REMARK GeneRIF: These results indicate the role of K8/18 in modulating
invasion in breast cancer.
REFERENCE 5 (bases 1 to 1807)
AUTHORS Wang,Y., Zhu,J.F., Liu,Y.Y. and Han,G.P.
TITLE An analysis of cyclin D1, cytokeratin 5/6 and cytokeratin 8/18
expression in breast papillomas and papillary carcinomas
JOURNAL Diagn Pathol 8, 8 (2013)
PUBMED 23327593
REMARK GeneRIF: Report keratin 8 expression in breast papillomas and
papillary carcinoma.
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 1807)
AUTHORS Ljubimov,A.V., Bartek,J., Couchman,J.R., Kapuller,L.L.,
Veselov,V.V., Kovarik,J., Perevoshchikov,A.G. and Krutovskikh,V.A.
TITLE Distribution of individual components of basement membrane in human
colon polyps and adenocarcinomas as revealed by monoclonal
antibodies
JOURNAL Int. J. Cancer 50 (4), 562-566 (1992)
PUBMED 1371500
REFERENCE 7 (bases 1 to 1807)
AUTHORS Waseem,A., Alexander,C.M., Steel,J.B. and Lane,E.B.
TITLE Embryonic simple epithelial keratins 8 and 18: chromosomal location
emphasizes difference from other keratin pairs
JOURNAL New Biol. 2 (5), 464-478 (1990)
PUBMED 1705144
REFERENCE 8 (bases 1 to 1807)
AUTHORS Yamamoto,R., Kao,L.C., McKnight,C.E. and Strauss,J.F. III.
TITLE Cloning and sequence of cDNA for human placental cytokeratin 8.
Regulation of the mRNA in trophoblastic cells by cAMP
JOURNAL Mol. Endocrinol. 4 (3), 370-374 (1990)
PUBMED 1692965
REFERENCE 9 (bases 1 to 1807)
AUTHORS Smedts,F., Ramaekers,F., Robben,H., Pruszczynski,M., van Muijen,G.,
Lane,B., Leigh,I. and Vooijs,P.
TITLE Changing patterns of keratin expression during progression of
cervical intraepithelial neoplasia
JOURNAL Am. J. Pathol. 136 (3), 657-668 (1990)
PUBMED 1690513
REFERENCE 10 (bases 1 to 1807)
AUTHORS Krauss,S. and Franke,W.W.
TITLE Organization and sequence of the human gene encoding cytokeratin 8
JOURNAL Gene 86 (2), 241-249 (1990)
PUBMED 1691124
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AK310257.1, BC008200.1 and
CX166336.1.
Summary: This gene is a member of the type II keratin family
clustered on the long arm of chromosome 12. Type I and type II
keratins heteropolymerize to form intermediate-sized filaments in
the cytoplasm of epithelial cells. The product of this gene
typically dimerizes with keratin 18 to form an intermediate
filament in simple single-layered epithelial cells. This protein
plays a role in maintaining cellular structural integrity and also
functions in signal transduction and cellular differentiation.
Mutations in this gene cause cryptogenic cirrhosis. Alternatively
spliced transcript variants have been found for this gene.
[provided by RefSeq, Jan 2012].
Transcript Variant: This variant (1) encodes the longer isoform
(1).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AK310257.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-1687 AK310257.1 1-1687
1688-1793 BC008200.1 1302-1407
1794-1807 CX166336.1 767-780
FEATURES Location/Qualifiers
source 1..1807
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12q13"
gene 1..1807
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/note="keratin 8"
/db_xref="GeneID:3856"
/db_xref="HGNC:6446"
/db_xref="MIM:148060"
exon 1..58
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/inference="alignment:Splign:1.39.8"
CDS 21..1556
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/note="isoform 1 is encoded by transcript variant 1;
keratin, type II cytoskeletal 8; cytokeratin 8;
cytokeratin-8; type-II keratin Kb8"
/codon_start=1
/product="keratin, type II cytoskeletal 8 isoform 1"
/protein_id="NP_001243211.1"
/db_xref="GI:372466572"
/db_xref="CCDS:CCDS58234.1"
/db_xref="GeneID:3856"
/db_xref="HGNC:6446"
/db_xref="MIM:148060"
/translation="
MNGVSWSQDLQEGISAWFGPPASTPASTMSIRVTQKSYKVSTSGPRAFSSRSYTSGPGSRISSSSFSRVGSSNFRGGLGGGYGGASGMGGITAVTVNQSLLSPLVLEVDPNIQAVRTQEKEQIKTLNNKFASFIDKVRFLEQQNKMLETKWSLLQQQKTARSNMDNMFESYINNLRRQLETLGQEKLKLEAELGNMQGLVEDFKNKYEDEINKRTEMENEFVLIKKDVDEAYMNKVELESRLEGLTDEINFLRQLYEEEIRELQSQISDTSVVLSMDNSRSLDMDSIIAEVKAQYEDIANRSRAEAESMYQIKYEELQSLAGKHGDDLRRTKTEISEMNRNISRLQAEIEGLKGQRASLEAAIADAEQRGELAIKDANAKLSELEAALQRAKQDMARQLREYQELMNVKLALDIEIATYRKLLEGEESRLESGMQNMSIHTKTTSGYAGGLSSAYGGLTSPGLSYSLGSSFGSGAGSSSFSRTSSSRAVVVKKIETRDGKLVSESSDVLPK
"
misc_feature 372..1283
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/note="Intermediate filament protein; Region: Filament;
pfam00038"
/db_xref="CDD:200948"
exon 59..428
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/inference="alignment:Splign:1.39.8"
variation 83..84
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="c"
/replace="t"
/db_xref="dbSNP:11554493"
variation 101
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="c"
/replace="t"
/db_xref="dbSNP:1065306"
variation 156
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="c"
/replace="t"
/db_xref="dbSNP:11554484"
variation 215
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="c"
/replace="t"
/db_xref="dbSNP:11554498"
variation 224
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="a"
/replace="g"
/db_xref="dbSNP:11554488"
variation 355
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="c"
/replace="t"
/db_xref="dbSNP:11554494"
variation 368
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="c"
/replace="t"
/db_xref="dbSNP:11554492"
variation 371
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="c"
/replace="t"
/db_xref="dbSNP:11554497"
exon 429..637
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/inference="alignment:Splign:1.39.8"
exon 638..698
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/inference="alignment:Splign:1.39.8"
exon 699..794
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/inference="alignment:Splign:1.39.8"
exon 795..1085
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/inference="alignment:Splign:1.39.8"
variation 813
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="c"
/replace="t"
/db_xref="dbSNP:11554490"
variation 909
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="g"
/replace="t"
/db_xref="dbSNP:11554280"
variation 940
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="a"
/replace="g"
/db_xref="dbSNP:11554499"
variation 951
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="c"
/replace="t"
/db_xref="dbSNP:11554487"
variation 1028
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="a"
/replace="t"
/db_xref="dbSNP:1065311"
variation 1060
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="c"
/replace="t"
/db_xref="dbSNP:11554486"
variation 1062
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="g"
/replace="t"
/db_xref="dbSNP:11554483"
exon 1086..1306
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/inference="alignment:Splign:1.39.8"
variation 1103
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="c"
/replace="t"
/db_xref="dbSNP:7750"
variation 1179
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="a"
/replace="g"
/db_xref="dbSNP:57626370"
variation 1208
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="c"
/replace="g"
/db_xref="dbSNP:1065362"
exon 1307..1365
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/inference="alignment:Splign:1.39.8"
STS 1311..1717
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/standard_name="GDB:277179"
/db_xref="UniSTS:156366"
exon 1366..1797
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/inference="alignment:Splign:1.39.8"
STS 1369..1786
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/standard_name="KRT8_7288"
/db_xref="UniSTS:466264"
variation 1462
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="g"
/replace="t"
/db_xref="dbSNP:11554491"
STS 1494..1729
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/standard_name="D17S1697"
/db_xref="UniSTS:153850"
STS 1496..1743
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/standard_name="RH79790"
/db_xref="UniSTS:88364"
STS 1510..1635
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/standard_name="RH47175"
/db_xref="UniSTS:57916"
variation 1654
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
/replace="a"
/replace="c"
/db_xref="dbSNP:1065710"
polyA_signal 1768..1773
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
polyA_site 1797
/gene="KRT8"
/gene_synonym="CARD2; CK-8; CK8; CYK8; K2C8; K8; KO"
ORIGIN
attcagcaaatgtttgcggaatgaatggggtgagctggagccaggacctgcaggaagggatctccgcctggttcggcccgcctgcctccactcctgcctctaccatgtccatcagggtgacccagaagtcctacaaggtgtccacctctggcccccgggccttcagcagccgctcctacacgagtgggcccggttcccgcatcagctcctcgagcttctcccgagtgggcagcagcaactttcgcggtggcctgggcggcggctatggtggggccagcggcatgggaggcatcaccgcagttacggtcaaccagagcctgctgagcccccttgtcctggaggtggaccccaacatccaggccgtgcgcacccaggagaaggagcagatcaagaccctcaacaacaagtttgcctccttcatagacaaggtacggttcctggagcagcagaacaagatgctggagaccaagtggagcctcctgcagcagcagaagacggctcgaagcaacatggacaacatgttcgagagctacatcaacaaccttaggcggcagctggagactctgggccaggagaagctgaagctggaggcggagcttggcaacatgcaggggctggtggaggacttcaagaacaagtatgaggatgagatcaataagcgtacagagatggagaacgaatttgtcctcatcaagaaggatgtggatgaagcttacatgaacaaggtagagctggagtctcgcctggaagggctgaccgacgagatcaacttcctcaggcagctatatgaagaggagatccgggagctgcagtcccagatctcggacacatctgtggtgctgtccatggacaacagccgctccctggacatggacagcatcattgctgaggtcaaggcacagtacgaggatattgccaaccgcagccgggctgaggctgagagcatgtaccagatcaagtatgaggagctgcagagcctggctgggaagcacggggatgacctgcggcgcacaaagactgagatctctgagatgaaccggaacatcagccggctccaggctgagattgagggcctcaaaggccagagggcttccctggaggccgccattgcagatgccgagcagcgtggagagctggccattaaggatgccaacgccaagttgtccgagctggaggccgccctgcagcgggccaagcaggacatggcgcggcagctgcgtgagtaccaggagctgatgaacgtcaagctggccctggacatcgagatcgccacctacaggaagctgctggagggcgaggagagccggctggagtctgggatgcagaacatgagtattcatacgaagaccaccagcggctatgcaggtggtctgagctcggcctatgggggcctcacaagccccggcctcagctacagcctgggctccagctttggctctggcgcgggctccagctccttcagccgcaccagctcctccagggccgtggttgtgaagaagatcgagacacgtgatgggaagctggtgtctgagtcctctgacgtcctgcccaagtgaacagctgcggcagcccctcccagcctacccctcctgcgctgccccagagcctgggaaggaggccgctatgcagggtagcactgggaacaggagacccacctgaggctcagccctagccctcagcccacctggggagtttactacctggggaccccccttgcccatgcctccagctacaaaacaattcaattgctttttttttttggtccaaaataaaacctcagctagctctgccaatgtcaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:3856 -> Molecular function: GO:0005198 [structural molecule activity] evidence: NAS
GeneID:3856 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:3856 -> Molecular function: GO:0097110 [scaffold protein binding] evidence: IPI
GeneID:3856 -> Biological process: GO:0007010 [cytoskeleton organization] evidence: NAS
GeneID:3856 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA
GeneID:3856 -> Cellular component: GO:0005654 [nucleoplasm] evidence: IEA
GeneID:3856 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:3856 -> Cellular component: GO:0005882 [intermediate filament] evidence: IDA
GeneID:3856 -> Cellular component: GO:0005882 [intermediate filament] evidence: NAS
GeneID:3856 -> Cellular component: GO:0016363 [nuclear matrix] evidence: IEA
GeneID:3856 -> Cellular component: GO:0045095 [keratin filament] evidence: IEA
by
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