KRT31

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

KRT31
Identifiers
Aliases	KRT31, HA1, Ha-1, KRTHA1, hHa1, keratin 31
External IDs	OMIM: 601077 MGI: 1309991 HomoloGene: 74433 GeneCards: KRT31
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 100,023,634 bp[2] End 100,029,868 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • structural constituent of cytoskeleton • GO:0001948 protein binding • structural molecule activity Cellular component • extracellular exosome • intermediate filament • extracellular • 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: 100.02 – 100.03 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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 17q12-q21 and have the same direction of transcription.[7]

Model organisms

Model organisms have been used in the study of KRT31 function. A conditional knockout mouse line called Krt31^{tm1e(KOMP)Wtsi} was generated at the Wellcome Trust Sanger Institute.[8] Male and female animals underwent a standardized phenotypic screen[9] to determine the effects of deletion.[10][11][12][13] Additional screens performed: - In-depth immunological phenotyping[14]

Krt31 knockout mouse phenotype

Characteristic	Phenotype
All data available at.[9][14]
Haematology 6 Weeks	Normal
Insulin	Normal
Homozygous viability at P14	Normal
Homozygous Fertility	Normal
Body weight	Normal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Abnormal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Normal
Heart weight	Normal
Salmonella infection	Normal
Cytotoxic T Cell Function	Normal
Spleen Immunophenotyping	Normal
Mesenteric Lymph Node Immunophenotyping	Normal
Bone Marrow Immunophenotyping	Normal
Epidermal Immune Composition	Normal
Influenza Challenge	Normal

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".
8. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
9. "International Mouse Phenotyping Consortium".
10. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
11. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
12. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
13. White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
14. "Infection and Immunity Immunophenotyping (3i) Consortium".

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.
• 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.