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KRT83 keratin 83 [ Homo sapiens (human) ]

Gene ID: 3889, updated on 9-Jul-2017
Official Symbol
KRT83provided by HGNC
Official Full Name
keratin 83provided by HGNC
Primary source
HGNC:HGNC:6460
See related
Ensembl:ENSG00000170523 MIM:602765; Vega:OTTHUMG00000169632
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
HB3; Hb-3; KRTHB3
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 KRTHB1 and KRTHB6, is found primarily in the hair cortex. [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 (52314301..52321398, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52708085..52715182, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 88 pseudogene Neighboring gene keratin 86 Neighboring gene keratin 81 Neighboring gene keratin 89 pseudogene Neighboring gene keratin 85

  • 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 Jun 15 11:32:44 2016
  • 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

Clone Names

  • MGC141663

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
aging IDA
Inferred from Direct Assay
more info
PubMed 
cornification TAS
Traceable Author Statement
more info
 
epidermis development TAS
Traceable Author Statement
more info
PubMed 
hair cycle IDA
Inferred from Direct Assay
more info
PubMed 
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 Hb3
Names
K83
hHb3
hair keratin K2.10
hard keratin, type II, 3
keratin 83, type II
keratin, hair, basic, 3
type II hair keratin Hb3
type-II keratin Kb23

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_008352.1 RefSeqGene

    Range
    5001..12098
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002282.3NP_002273.3  keratin, type II cuticular Hb3

    See identical proteins and their annotated locations for NP_002273.3

    Status: REVIEWED

    Source sequence(s)
    AC121757, BC069546
    Consensus CDS
    CCDS8823.1
    UniProtKB/Swiss-Prot
    P78385
    Related
    ENSP00000293670.3, OTTHUMP00000241740, ENST00000293670.3, OTTHUMT00000405182
    Conserved Domains (4) summary
    pfam00038
    Location:110421
    Filament; Intermediate filament protein
    pfam16208
    Location:4107
    Keratin_2_head; Keratin type II head
    cl12013
    Location:235425
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    cl23720
    Location:320388
    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
    52314301..52321398 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    52674734..52681831 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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