KRT81

KRT81
Identifiers
AliasesKRT81, HB1, Hb-1, KRTHB1, MLN137, ghHkb1, hHAKB2-1, keratin 81, K81
External IDsOMIM: 602153; MGI: 1928858; HomoloGene: 55645; GeneCards: KRT81; OMA:KRT81 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for KRT81
Genomic location for KRT81
Band12q13.13Start52,285,913 bp[1]
End52,291,534 bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for KRT81
Genomic location for KRT81
Band15 F2|15 56.9 cMStart101,356,942 bp[2]
End101,361,632 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • hair follicle

  • placenta

  • mammary gland

  • breast

  • amniotic fluid

  • right coronary artery

  • bone

  • superior frontal gyrus

  • mouth

  • salivary gland
Top expressed in
  • lip

  • right ventricle

  • hair follicle

  • skin of back

  • skin of abdomen

  • motor neuron

  • sternocleidomastoid muscle

  • upper arm

  • medial ganglionic eminence

  • tracheobronchial tree
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • protein binding
  • structural molecule activity
Cellular component
  • intermediate filament
  • keratin filament
  • extracellular space
  • cytosol
Biological process
  • keratinization
  • cornification
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3887

64818

Ensembl

ENSG00000205426

ENSMUSG00000067615

UniProt

Q14533

Q9ERE2

RefSeq (mRNA)

NM_002281

NM_001166157

RefSeq (protein)

NP_002272

NP_001159629

Location (UCSC)Chr 12: 52.29 – 52.29 MbChr 15: 101.36 – 101.36 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Keratin, type II cuticular Hb1 is a protein that in humans is encoded by the KRT81 gene.[5][6][7]

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.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000205426 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000067615 – 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. ^ Rogers MA, Nischt R, Korge B, Krieg T, Fink TM, Lichter P, Winter H, Schweizer J (Nov 1995). "Sequence data and chromosomal localization of human type I and type II hair keratin genes". Exp Cell Res. 220 (2): 357–62. doi:10.1006/excr.1995.1326. PMID 7556444.
  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". J Cell Biol. 174 (2): 169–74. doi:10.1083/jcb.200603161. PMC 2064177. PMID 16831889.
  7. ^ a b "Entrez Gene: KRT81 keratin 81".

Further reading

  • Coulombe PA, Omary MB (2002). "'Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments". Curr. Opin. Cell Biol. 14 (1): 110–22. doi:10.1016/S0955-0674(01)00301-5. PMID 11792552.
  • Langbein L, Schweizer J (2005). "Keratins of the human hair follicle". Int. Rev. Cytol. International Review of Cytology. 243: 1–78. doi:10.1016/S0074-7696(05)43001-6. ISBN 9780123646477. PMID 15797458.
  • Tomasetto C, Régnier C, Moog-Lutz C, et al. (1996). "Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17". Genomics. 28 (3): 367–76. doi:10.1006/geno.1995.1163. PMID 7490069.
  • Bowden PE, Hainey S, Parker G, Hodgins MB (1995). "Sequence and expression of human hair keratin genes". J. Dermatol. Sci. 7 Suppl: S152–63. doi:10.1016/0923-1811(94)90046-9. PMID 7528047.
  • Winter H, Rogers MA, Gebhardt M, et al. (1998). "A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix". Hum. Genet. 101 (2): 165–9. doi:10.1007/s004390050607. PMID 9402962. S2CID 20555394.
  • Bowden PE, Hainey SD, Parker G, et al. (1998). "Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle". J. Invest. Dermatol. 110 (2): 158–64. doi:10.1046/j.1523-1747.1998.00097.x. PMID 9457912.
  • Winter H, Labrèze C, Chapalain V, et al. (1998). "A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1". J. Invest. Dermatol. 111 (1): 169–72. doi:10.1046/j.1523-1747.1998.00234.x. PMID 9665406.
  • Rogers MA, Winter H, Langbein L, et al. (2000). "Characterization of a 300 kbp region of human DNA containing the type II hair keratin gene domain". J. Invest. Dermatol. 114 (3): 464–72. doi:10.1046/j.1523-1747.2000.00910.x. PMID 10692104.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Nishikawa J, Kiss C, Imai S, et al. (2003). "Upregulation of the truncated basic hair keratin 1(hHb1-DeltaN) in carcinoma cells by Epstein-Barr virus (EBV)". Int. J. Cancer. 107 (4): 597–602. doi:10.1002/ijc.11289. PMID 14520698. S2CID 2569578.
  • Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
  • v
  • t
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Human
Microfilaments
and ABPs
Myofilament
Actins
Myosins
Other
Other
Intermediate
filaments
Type 1/2
(Keratin,
Cytokeratin)
Epithelial keratins
(soft alpha-keratins)
Hair keratins
(hard alpha-keratins)
Ungrouped alpha
Not alpha
Type 3
Type 4
Type 5
Microtubules
and MAPs
Tubulins
MAPs
Kinesins
Dyneins
Microtubule organising proteins
Microtubule severing proteins
Other
Catenins
Membrane
Other
Nonhuman
See also: cytoskeletal defects


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