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KRT40 keratin 40 [ Homo sapiens (human) ]

Gene ID: 125115, updated on 7-Apr-2024

Summary

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Official Symbol
KRT40provided by HGNC
Official Full Name
keratin 40provided by HGNC
Primary source
HGNC:HGNC:26707
See related
Ensembl:ENSG00000204889 MIM:616679; AllianceGenome:HGNC:26707
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
K40; KA36; CK-40
Summary
This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See KRT40 in Genome Data Viewer
Location:
17q21.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (40977715..40987135, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (41842176..41851600, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39133967..39143387, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985072 Neighboring gene keratin 23 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:39109689-39110888 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:39112787-39113986 Neighboring gene keratin 39 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:39136258-39136859 Neighboring gene keratin associated protein 3-3 Neighboring gene keratin associated protein 3-2

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. Novel type I hair keratins K39 and K40 are the last to be expressed in differentiation of the hair: completion of the human hair keratin catalog. Langbein L, et al. J Invest Dermatol, 2007 Jun. PMID 17301834
  2. The human type I keratin gene family: characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain. Rogers MA, et al. Differentiation, 2004 Dec. PMID 15617563
  3. Comprehensive analysis of keratin gene clusters in humans and rodents. Hesse M, et al. Eur J Cell Biol, 2004 Feb. PMID 15085952
  4. New consensus nomenclature for mammalian keratins. Schweizer J, et al. J Cell Biol, 2006 Jul 17. PMID 16831889, Free PMC Article
  5. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. Chen S, et al. Nat Genet, 2018 Jul. PMID 29892012, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. KRT39 and KRT40 expression patterns complete sequential expression of the 16 hair keratins in the human hair follicle
    Title: Novel type I hair keratins K39 and K40 are the last to be expressed in differentiation of the hair: completion of the human hair keratin catalog.
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

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

  • FLJ36600

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural molecule activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in epithelial cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intermediate filament organization IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in intermediate filament IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
keratin, type I cytoskeletal 40
Names
cytokeratin-40
keratin 40, type I
type I hair keratin KA36

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_012412.1 RefSeqGene

    Range
    7810..14421
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001385217.1 → NP_001372146.1  keratin, type I cytoskeletal 40

    Status: REVIEWED

    Source sequence(s)
    AC007455
    Consensus CDS
    CCDS42320.1
    UniProtKB/Swiss-Prot
    Q6A162, Q6IFU5
    UniProtKB/TrEMBL
    B7ZM39
    Related
    ENSP00000506768.1, ENST00000684280.1
    Conserved Domains (1) summary
    pfam00038
    Location:88 → 399
    Filament; Intermediate filament protein

  2. NM_001389244.1 → NP_001376173.1  keratin, type I cytoskeletal 40

    Status: REVIEWED

    Source sequence(s)
    AC007455
    Consensus CDS
    CCDS42320.1
    UniProtKB/Swiss-Prot
    Q6A162, Q6IFU5
    UniProtKB/TrEMBL
    B7ZM39
    Related
    ENSP00000366984.4, ENST00000377755.9
    Conserved Domains (1) summary
    pfam00038
    Location:88 → 399
    Filament; Intermediate filament protein

  3. NM_182497.4 → NP_872303.2  keratin, type I cytoskeletal 40

    See identical proteins and their annotated locations for NP_872303.2

    Status: REVIEWED

    Source sequence(s)
    AC007455
    Consensus CDS
    CCDS42320.1
    UniProtKB/Swiss-Prot
    Q6A162, Q6IFU5
    UniProtKB/TrEMBL
    B7ZM39
    Related
    ENSP00000381500.2, ENST00000398486.2
    Conserved Domains (1) summary
    pfam00038
    Location:88 → 399
    Filament; Intermediate filament protein

RNA

  1. NR_163403.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007455

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    40977715..40987135 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524339.3 → XP_011522641.3  keratin, type I cytoskeletal 40 isoform X1

    UniProtKB/TrEMBL
    G3V1C2
    Related
    ENSP00000434458.1, ENST00000461923.5

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003871091.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    127110..136534 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329708.1 → XP_054185683.1  keratin, type I cytoskeletal 40 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    41842176..41851600 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315075.1 → XP_054171050.1  keratin, type I cytoskeletal 40 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6A162.2 GenPept UniProtKB/Swiss-Prot:Q6A162

Gene LinkOut

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