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KRT74 keratin 74 [ Homo sapiens (human) ]

Gene ID: 121391, updated on 7-Apr-2024

Summary

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Official Symbol
KRT74provided by HGNC
Official Full Name
keratin 74provided by HGNC
Primary source
HGNC:HGNC:28929
See related
Ensembl:ENSG00000170484 MIM:608248; AllianceGenome:HGNC:28929
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
ADWH; ECTD7; HTSS2; HYPT3; KRT5C; K6IRS4; KRT6IRS4
Summary
Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.[provided by RefSeq, Jun 2009]
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 (52565782..52573843, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52530378..52538439, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52959566..52967627, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52916085-52917050 Neighboring gene keratin 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52941449-52941950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52941951-52942450 Neighboring gene keratin 71 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29072 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29100 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29110 Neighboring gene keratin 72 Neighboring gene KRT73 antisense RNA 1 Neighboring gene keratin 73

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. Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. Raykova D, et al. PLoS One, 2014. PMID 24714551, Free PMC Article
  2. Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. Wasif N, et al. Hum Genet, 2011 Apr. PMID 21188418
  3. K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle. Langbein L, et al. J Invest Dermatol, 2003 Apr. PMID 12648212
  4. Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Shimomura Y, et al. Am J Hum Genet, 2010 Apr 9. PMID 20346438, Free PMC Article
  5. Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18. Hesse M, et al. J Cell Sci, 2001 Jul. PMID 11683385

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These observations show for the first time that homozygosity for a KRT74 missense variant may be associated with autosomal recessive pure hair and nail ectodermal dysplasia.
    Title: Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
  2. Data provide evidence implicating that the KRT74 gene in the pathogenesis of autosomal dominant hair loss disorders.
    Title: Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. Single Nucleotide Polymorphisms in KRT74 gene is associated with woolly hair.
    Title: Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene variants associated with ischemic stroke: the cardiovascular health study.
  6. report on the cloning of two novel human type II keratin cDNAs, K6irs3 and K6irs4, which were specifically expressed in the inner root sheath of the hair follicle
    Title: K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial 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
Autosomal dominant wooly hair
MedGen: C1860238 OMIM: 194300 GeneReviews: Not available
Compare labs
Ectodermal dysplasia 7, hair/nail type
MedGen: C3554117 OMIM: 614929 GeneReviews: Not available
Compare labs
Hypotrichosis 3
MedGen: C3151432 OMIM: 613981 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables keratin filament binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 intermediate filament cytoskeleton organization 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 cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome 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 cytoskeletal 74
Names
CK-74
K5C
K74
cytokeratin-74
keratin 5c
keratin 6 irs4
keratin 74, type II
type II inner root sheath-specific keratin-K6irs4
type-II keratin Kb37

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_012321.1 RefSeqGene

    Range
    4983..13044
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_175053.4 → NP_778223.2  keratin, type II cytoskeletal 74

    See identical proteins and their annotated locations for NP_778223.2

    Status: REVIEWED

    Source sequence(s)
    AC055715, AI092341, AJ508777
    Consensus CDS
    CCDS8832.1
    UniProtKB/Swiss-Prot
    B5MD61, Q7RTS7, Q86Y45
    UniProtKB/TrEMBL
    F8W1S1
    Related
    ENSP00000307240.2, ENST00000305620.3
    Conserved Domains (3) summary
    pfam00038
    Location:139 → 452
    Filament; Intermediate filament protein
    pfam04100
    Location:361 → 424
    Vps53_N; Vps53-like, N-terminal
    pfam16208
    Location:15 → 136
    Keratin_2_head; Keratin type II head

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
    52565782..52573843 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    52530378..52538439 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7RTS7.2 GenPept UniProtKB/Swiss-Prot:Q7RTS7

Gene LinkOut

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