KRT83 keratin 83 [Homo sapiens (human)] - Gene

Summary

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

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 (52314301..52321398, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (52278221..52285323, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (52708085..52715182, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Novel mutations causing monilethrix are reported in KRT81, KRT83, and KRT86.
Title: Novel KRT83 and KRT86 mutations associated with monilethrix.
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.
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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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G64253 (e-PCR)
- UniSTS:166973

NoName (e-PCR)
- UniSTS:481658

D12S270 (e-PCR)
- UniSTS:148103

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 more info	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

NG_008352.1 RefSeqGene

Range

5001..12098

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1302

mRNA and Protein(s)

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)