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KRT81 keratin 81 [ Homo sapiens (human) ]

Gene ID: 3887, updated on 10-Dec-2024

Summary

Official Symbol
KRT81provided by HGNC
Official Full Name
keratin 81provided by HGNC
Primary source
HGNC:HGNC:6458
See related
Ensembl:ENSG00000205426 MIM:602153; AllianceGenome:HGNC:6458
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HB1; K81; Hb-1; KRTHB1; MLN137; ghHkb1; hHAKB2-1
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]
Annotation information
Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Expression
Biased expression in placenta (RPKM 1.1), salivary gland (RPKM 0.5) and 13 other tissues See more
Orthologs
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Genomic context

See KRT81 in Genome Data Viewer
Location:
12q13.13
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52285913..52291534, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52249832..52255457, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52679697..52685318, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52645720-52646220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52646221-52646721 Neighboring gene keratin 87, pseudogene Neighboring gene keratin 88, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:52673861-52675060 Neighboring gene keratin 86 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52698416-52698916 Neighboring gene uncharacterized LOC124902935 Neighboring gene keratin 83

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural constituent of skin epidermis IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in intermediate filament organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in keratinization IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular space HDA PubMed 
is_active_in keratin filament IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
keratin, type II cuticular Hb1
Names
hair keratin K2.9
hard keratin, type II, 1
keratin 81, type II
keratin, hair, basic, 1
metastatic lymph node 137 gene protein
type II hair keratin Hb1
type-II keratin Kb21

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008184.1 RefSeqGene

    Range
    4982..10603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002281.4NP_002272.2  keratin, type II cuticular Hb1

    See identical proteins and their annotated locations for NP_002272.2

    Status: REVIEWED

    Source sequence(s)
    AC121757, X81420
    Consensus CDS
    CCDS31805.1
    UniProtKB/Swiss-Prot
    Q14533, Q14846, Q16274, Q17R48, Q8WU52, Q9BR74
    UniProtKB/TrEMBL
    A8K872, B4DN72
    Related
    ENSP00000369349.4, ENST00000327741.9
    Conserved Domains (2) summary
    pfam00038
    Location:105416
    Filament; Intermediate filament protein
    pfam16208
    Location:1102
    Keratin_2_head; Keratin type II head

RNA

  1. NR_190103.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    CP068266

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    52285913..52291534 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    52249832..52255457 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)