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KRT81 keratin 81 [ Homo sapiens (human) ]

Gene ID: 3887, updated on 5-Feb-2017
Official Symbol
KRT81provided by HGNC
Official Full Name
keratin 81provided by HGNC
Primary source
HGNC:HGNC:6458
See related
Ensembl:ENSG00000205426 MIM:602153; Vega:OTTHUMG00000167574
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; 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. [provided by RefSeq, Jul 2008]
Orthologs
Location:
12q13.13
Exon count:
9
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (52285913..52291515, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52679697..52685299, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 7 Neighboring gene keratin 87 pseudogene Neighboring gene keratin 88 pseudogene Neighboring gene keratin 86 Neighboring gene keratin 83 Neighboring gene keratin 89 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Keratinization, organism-specific biosystem (from REACTOME)
    Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cornification TAS
Traceable Author Statement
more info
 
keratinization TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
keratin filament IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
keratin, type II cuticular Hb1
Names
K81
MLN 137
ghHb1
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

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
    5001..10603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002281.3NP_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
    Related
    ENSP00000369349, OTTHUMP00000236200, ENST00000327741, OTTHUMT00000395128
    Conserved Domains (4) summary
    pfam00038
    Location:105416
    Filament; Intermediate filament protein
    pfam16208
    Location:6102
    Keratin_2_head; Keratin type II head
    cl09111
    Location:225340
    Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    cl23720
    Location:315383
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

    Range
    52285913..52291515 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    52646345..52651950 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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