Homo sapiens keratin 81 (KRT81), mRNA.
| RefSeq Version | NM_002281.3, 169790852 |
| Length | 1926 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens keratin 81 (KRT81), mRNA. |
| Product | keratin, type II cuticular Hb1 |
| Comment | Summary: The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the bull length of the gene. The extent of this transcript is supported by transcript alignments. |
| RefSeq | NP_002272.2 |
| CDS | 51..1568 | Exon (1) | 1..419 | Exon (2) | 1..419 | Exon (3) | 420..628 | Exon (4) | 629..689 | Exon (5) | 690..785 | Exon (6) | 786..950 | Exon (7) | 951..1076 | Exon (8) | 1077..1297 | Exon (9) | 1298..1329 | Exon (10) | 1330..1910 |
| Translation | MTCGSGFGGRAFSCISACGPRPGRCCITAAPYRGISCYRGLTGGFGSHSVCGGFRAGSCG
RSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKSLNSRFAAF
IDKVRFLEQQNKLLETKLQFYQNRECCQSNLEPLFEGYIETLRREAECVEADSGRLASEL
NHVQEVLEGYKKKYEEEVSLRATAENEFVALKKDVDCAYLRKSDLEANVEALIQEIDFLR
RLYEEEILILQSHISDTSVVVKLDNSRDLNMDCIIAEIKAQYDDIVTRSRAEAESWYRSK
CEEMKATVIRHGETLRRTKEEINELNRMIQRLTAEVENAKCQNSKLEAAVAQSEQQGEAA
LSDARCKLAELEGALQKAKQDMACLIREYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEG
IGAVNVCVSSSRGGVVCGDLCVSGSRPVTGSVCSAPCNGNVAVSTGLCAPCGQLNTTCGG
GSCGVGSCGISSLGVGSCGSSCRKC
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| Position | Chain | Variation | Link |
| complement(87) | - | t, g | dbSNP:79897879 |
| complement(110) | - | g, c | dbSNP:75660643 |
| 204 | + | c, g | dbSNP:2071588 |
| 247 | + | a, g | dbSNP:57242951 |
| 398 | + | a, g | dbSNP:58580222 |
| 466 | + | a, c | dbSNP:58717266 |
| 686 | + | a, g | dbSNP:79398941 |
| complement(711) | - | g, c | dbSNP:111866984 |
| complement(793) | - | c, a | dbSNP:6580873 |
| complement(952) | - | t, c | dbSNP:113592710 |
| complement(971) | - | t, c | dbSNP:75798653 |
| complement(996) | - | g, a | dbSNP:4761786 |
| 1019 | + | c, t | dbSNP:3187034 |
| complement(1040) | - | t, c | dbSNP:7300801 |
| complement(1048) | - | g, a | dbSNP:34187924 |
| complement(1048) | - | g, a | dbSNP:75304109 |
| complement(1103) | - | g, a | dbSNP:4761784 |
| complement(1127) | - | t, c | dbSNP:4761856 |
| 1127 | + | a, g | dbSNP:11552017 |
| 1254 | + | a, g | dbSNP:56821304 |
| complement(1277) | - | g, c | dbSNP:111382015 |
| 1287 | + | a, g | dbSNP:57419521 |
| complement(1417) | - | g, a | dbSNP:114447073 |
| complement(1435) | - | g, a | dbSNP:74095618 |
| complement(1503) | - | t, c | dbSNP:115355093 |
| 1599 | + | a, c, g, t | dbSNP:3657 |
| 1670 | + | c, g | dbSNP:3660 |
| complement(1704) | - | t, g | dbSNP:114671668 |
| Gene Symbol | KRT81 |
| Gene Synonym | ghHkb1; Hb-1; HB1; hHAKB2-1; KRTHB1; MLN137 |
| Chromosome | 12 |
| Locus Map | 12q13 |
| All Transcripts | NM_002281 |
| Title | Transcriptional activation of a subset of hair keratin genes by the NF-kappaB effector p65/RelA . |
| Author | Gilon,M., Sher,N., Cohen,S. and Gat,U. |
| Journal | Differentiation 76 (5), 518-530 (2008) |
| Title | New consensus nomenclature for mammalian keratins . |
| Author | Schweizer,J., Bowden,P.E., Coulombe,P.A., Langbein,L., Lane,E.B., Magin,T.M., Maltais,L., Omary,M.B., Parry,D.A., Rogers,M.A. and Wright,M.W. |
| Journal | J. Cell Biol. 174 (2), 169-174 (2006) |
| Title | Keratins of the human hair follicle . |
| Author | Langbein,L. and Schweizer,J. |
| Journal | Int. Rev. Cytol. 243, 1-78 (2005) |
| Title | Functional proteomics mapping of a human signaling pathway . |
| Author | Colland,F., Jacq,X., Trouplin,V., Mougin,C., Groizeleau,C., Hamburger,A., Meil,A., Wojcik,J., Legrain,P. and Gauthier,J.M. |
| Journal | Genome Res. 14 (7), 1324-1332 (2004) |
| Title | Upregulation of the truncated basic hair keratin 1(hHb1-DeltaN) in carcinoma cells by Epstein-Barr virus (EBV) . |
| Author | Nishikawa,J., Kiss,C., Imai,S., Takada,K., Okita,K., Klein,G. and Szekely,L. |
| Journal | Int. J. Cancer 107 (4), 597-602 (2003) |
| Title | A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1 . |
| Author | Winter,H., Labreze,C., Chapalain,V., Surleve-Bazeille,J.E., Mercier,M., Rogers,M.A., Taieb,A. and Schweizer,J. |
| Journal | J. Invest. Dermatol. 111 (1), 169-172 (1998) |
| Title | Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle . |
| Author | Bowden,P.E., Hainey,S.D., Parker,G., Jones,D.O., Zimonjic,D., Popescu,N. and Hodgins,M.B. |
| Journal | J. Invest. Dermatol. 110 (2), 158-164 (1998) |
| Title | A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix . |
| Author | Winter,H., Rogers,M.A., Gebhardt,M., Wollina,U., Boxall,L., Chitayat,D., Babul-Hirji,R., Stevens,H.P., Zlotogorski,A. and Schweizer,J. |
| Journal | Hum. Genet. 101 (2), 165-169 (1997) |
| Title | Sequence data and chromosomal localization of human type I and type . |
| Author | Rogers,M.A., Nischt,R., Korge,B., Krieg,T., Fink,T.M., Lichter,P., Winter,H. and Schweizer,J. |
| Journal | Exp. Cell Res. 220 (2), 357-362 (1995) |
| Title | Sequence and expression of human hair keratin genes . |
| Author | Bowden,P.E., Hainey,S., Parker,G. and Hodgins,M.B. |
| Journal | J. Dermatol. Sci. 7 SUPPL, S152-S163 (1994) |
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