Reference Gene
| Gene name | Alias | Species | Exons | Type | Paralogs | EC number | OMIM |
|---|---|---|---|---|---|---|---|
| KRT81 keratin 81 | HB1 , K81 , Hb-1 , KRTHB1 , MLN137 , ghHkb1 , hHAKB2-1 | Homo sapiens | 9 | protein-coding | KRT8 , KRT6C , KRT6B , KRT6A , KRT80 , KRT74 , KRT71 , KRT72 , KRT73 , KRT77 , KRT78 , KRT4 , KRT79 , KRT76 , KRT3 , KRT2 , KRT1 , KRT75 , KRT5 , KRT85 , KRT86 , KRT83 , KRT84 , KRT82 , KRT7 | 602153 |
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. Some human genome assemblies (example T2T-CHM13) have a non-coding version of the gene due to the presence of a SNP that introduces a premature stop codon after codon 281. [provided by RefSeq, Jan 2024]
GeneOntology
Gene Loss events - KRT81 (4 results)
| GL_ID | Species | Order | Gene Loss Mechanism | Loss Type | Lineage Specific | Citation |
|---|---|---|---|---|---|---|
| GL_0EWRYW | Neophocaena asiaeorientalis asiaeorientalis | Artiodactyla | Other | Full | No | 10.1186/s12983-017-0225-x |
| GL_JJONDF | Balaenoptera acutorostrata | Artiodactyla | Other | Full | No | 10.1186/s12983-017-0225-x |
| GL_JPT8GC | Balaena mysticetus | Artiodactyla | Other | Full | No | 10.1186/s12983-017-0225-x |
| GL_M5RZNE | Lipotes vexillifer | Artiodactyla | Gene deletion | Full | No | 10.1186/s12983-017-0225-x |