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KRT83 keratin 83 [ Homo sapiens (human) ]

Gene ID: 3889, updated on 7-Apr-2024

Summary

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Official Symbol
KRT83provided by HGNC
Official Full Name
keratin 83provided by HGNC
Primary source
HGNC:HGNC:6460
See related
Ensembl:ENSG00000170523 MIM:602765; AllianceGenome:HGNC:6460
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; EKVP5; MNLIX; 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]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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Location:
12q13.13
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52314301..52321398, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52278221..52285323, complement)
105.20220307 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 86 Neighboring gene keratin 81 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52698416-52698916 Neighboring gene uncharacterized LOC124902935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52740941-52741440 Neighboring gene keratin 89, pseudogene Neighboring gene keratin 85

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. Shah K, et al. J Med Genet, 2017 Mar. PMID 27965375
  2. The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins. Langbein L, et al. J Biol Chem, 2001 Sep 14. PMID 11445569
  3. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. van Steensel MA, et al. J Med Genet, 2005 Mar. PMID 15744029, Free PMC Article
  4. Novel KRT83 and KRT86 mutations associated with monilethrix. van Steensel M, et al. Exp Dermatol, 2015 Mar. PMID 25557232
  5. Keratins of the human hair follicle. Langbein L, et al. Int Rev Cytol, 2005. PMID 15797458

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Our findings indicate that at least some cases of autosomal recessive Progressive symmetric erythrokeratoderma (PSEK)and autosomal dominant monilethrix are allelic, respectively resulting from loss-of-function and missense mutations in the KRT83 gene
    Title: Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix.
  2. Novel mutations causing monilethrix are reported in KRT81, KRT83, and KRT86.
    Title: Novel KRT83 and KRT86 mutations associated with monilethrix.
  3. A heterozygous missense mutation in hHb3 causing the substitution of a glutamic acid by a lysine at position 407 in the helix termination motif defines this particular residue as a trichocyte keratin mutational hotspot associated with monilethrix.
    Title: A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.
  4. The KRTHB3 expression uniformly occurred in the midcortex region.
    Title: Keratins of the human hair follicle.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Beaded hair
MedGen: C0546966 OMIM: 158000 GeneReviews: Not available
Compare labs
Erythrokeratodermia variabilis et progressiva 5
MedGen: C4540331 OMIM: 617756 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC141663

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 epidermis development TAS
Traceable Author Statement
more info
 PubMed 
involved_in hair cycle IDA
Inferred from Direct Assay
more info
 PubMed 
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

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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

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_008352.1 RefSeqGene

    Range
    5001..12098
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1302

mRNA and Protein(s)

  1. NM_002282.3 → NP_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
    A1A4S9, B2RC21, P78385, Q6NT21, Q9NSB3
    UniProtKB/TrEMBL
    A0JNT2
    Related
    ENSP00000293670.3, ENST00000293670.3
    Conserved Domains (4) summary
    pfam00038
    Location:110 → 421
    Filament; Intermediate filament protein
    pfam16208
    Location:4 → 107
    Keratin_2_head; Keratin type II head
    cl12013
    Location:235 → 425
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    cl23720
    Location:320 → 388
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    52314301..52321398 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    52278221..52285323 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P78385.2 GenPept UniProtKB/Swiss-Prot:P78385

Gene LinkOut

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