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    KRT83 keratin 83 [ Homo sapiens (human) ]

    Gene ID: 3889, updated on 10-Dec-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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    See KRT83 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 (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_000012.12Genomic 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. 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
    2. 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
    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. Sequences and differential expression of three novel human type-II hair keratins. Rogers MA, et al. Differentiation, 1997 Feb. PMID 9084137

    See all (28) 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)

    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_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
      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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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