KRT81 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
KRT81
Official Name
keratin 81 [Source:HGNC Symbol;Acc:HGNC:6458]
Ensembl ID
ENSG00000205426
Bio databases IDs NCBI: 3887 Ensembl: ENSG00000205426
Aliases keratin 81, hard keratin type II 1
Synonyms ghHb1, ghHkb1, HB1, hHAKB2-1, K81, keratin 81, KRTHB1, MLN137
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KRT81 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • protein binding
  • Intermediate filament protein

Pathways

Biological processes and signaling networks where the KRT81 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • monilethrix
  • androgenic alopecia
  • uterine serous papillary cancer
regulated by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cell periphery
  • filamentous network
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human KRT81 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • keratinization
  • intermediate filament organization

Cellular Component

Where in the cell the gene product is active
  • extracellular space
  • keratin filament
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • structural constituent of epidermis
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.