KRT31

KRT31
Identifiers
Aliases	KRT31, HA1, Ha-1, KRTHA1, hHa1, keratin 31
External IDs	OMIM: 601077; MGI: 1309991; HomoloGene: 74433; GeneCards: KRT31; OMA:KRT31 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q21.2 Start 41,393,721 bp[1] End 41,397,608 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 D|11 63.37 cM Start 99,914,460 bp[2] End 99,920,694 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Cerebellum cerebellar cortex cerebellar hemisphere right hemisphere of cerebellum skin of abdomen testicle skin of leg muscle of thigh mucosa of esophagus anterior cingulate cortex Top expressed in lip hair filiform papilla outer root sheath of hair follicle ankle joint embryo cortex of hair skin of back skin of abdomen dermis More reference expression data BioGPS More reference expression data
Gene ontology Molecular function structural constituent of cytoskeleton protein binding structural molecule activity Cellular component extracellular exosome intermediate filament extracellular space cytosol Biological process epidermis development cytoskeleton organization keratinization cornification Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3881 16671 Ensembl ENSG00000094796 ENSG00000262993 ENSMUSG00000057723 UniProt Q15323 Q61897 RefSeq (mRNA) NM_002277 NM_013570 RefSeq (protein) NP_002268 NP_038598 Location (UCSC) Chr 17: 41.39 – 41.4 Mb Chr 11: 99.91 – 99.92 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Keratin, type I cuticular Ha1 is a protein that in humans is encoded by the KRT31 gene.[5][6][7]

Function

The protein encoded by this gene is a member of the keratin gene family. As a Type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q21.2 and have the same direction of transcription.[7]

References

1. ENSG00000262993 GRCh38: Ensembl release 89: ENSG00000094796, ENSG00000262993 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000057723 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Fink P, Rogers MA, Korge B, Winter H, Schweizer J (Oct 1995). "A cDNA encoding the human type I hair keratin hHal". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1264 (1): 12–4. doi:10.1016/0167-4781(95)00122-w. PMID 7578244.
6. Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW (Jul 2006). "New consensus nomenclature for mammalian keratins". The Journal of Cell Biology. 174 (2): 169–74. doi:10.1083/jcb.200603161. PMC 2064177. PMID 16831889.
7. "Entrez Gene: KRT31 keratin 31".

Further reading

• Yu J, Yu DW, Checkla DM, Freedberg IM, Bertolino AP (Jul 1993). "Human hair keratins". The Journal of Investigative Dermatology. 101 (1 Suppl): 56S – 59S. doi:10.1111/1523-1747.ep12362635. PMID 7686952.
• Dhouailly D, Xu C, Manabe M, Schermer A, Sun TT (Mar 1989). "Expression of hair-related keratins in a soft epithelium: subpopulations of human and mouse dorsal tongue keratinocytes express keratin markers for hair-, skin- and esophageal-types of differentiation". Experimental Cell Research. 181 (1): 141–58. doi:10.1016/0014-4827(89)90189-4. PMID 2465162.
• Bowden PE, Hainey S, Parker G, Hodgins MB (Jul 1994). "Sequence and expression of human hair keratin genes". Journal of Dermatological Science. 7 Suppl: S152-63. doi:10.1016/0923-1811(94)90046-9. PMID 7528047.
• Winter H, Hofmann I, Langbein L, Rogers MA, Schweizer J (Dec 1997). "A splice site mutation in the gene of the human type I hair keratin hHa1 results in the expression of a tailless keratin isoform". The Journal of Biological Chemistry. 272 (51): 32345–52. doi:10.1074/jbc.272.51.32345. PMID 9405442.
• Bowden PE, Hainey SD, Parker G, Jones DO, Zimonjic D, Popescu N, Hodgins MB (Feb 1998). "Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle". The Journal of Investigative Dermatology. 110 (2): 158–64. doi:10.1046/j.1523-1747.1998.00097.x. PMID 9457912.
• Rogers MA, Winter H, Wolf C, Heck M, Schweizer J (Oct 1998). "Characterization of a 190-kilobase pair domain of human type I hair keratin genes". The Journal of Biological Chemistry. 273 (41): 26683–91. doi:10.1074/jbc.273.41.26683. PMID 9756910.
• Langbein L, Rogers MA, Winter H, Praetzel S, Beckhaus U, Rackwitz HR, Schweizer J (Jul 1999). "The catalog of human hair keratins. I. Expression of the nine type I members in the hair follicle". The Journal of Biological Chemistry. 274 (28): 19874–84. doi:10.1074/jbc.274.28.19874. PMID 10391933.
• Cribier B, Peltre B, Grosshans E, Langbein L, Schweizer J (May 2004). "On the regulation of hair keratin expression: lessons from studies in pilomatricomas". The Journal of Investigative Dermatology. 122 (5): 1078–83. doi:10.1111/j.0022-202X.2004.22513.x. PMID 15140206.
• Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (May 2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.
• Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.