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KRT34 keratin 34 [ Homo sapiens (human) ]

Gene ID: 3885, updated on 7-Apr-2024

Summary

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Official Symbol
KRT34provided by HGNC
Official Full Name
keratin 34provided by HGNC
Primary source
HGNC:HGNC:6452
See related
Ensembl:ENSG00000131737 MIM:602763; AllianceGenome:HGNC:6452
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
HA4; K34; Ha-4; hHa4; KRTHA4
Summary
The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See KRT34 in Genome Data Viewer
Location:
17q21.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (41377669..41383816, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42233202..42239349, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39533921..39538558, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39520859-39521360 Neighboring gene keratin 33B Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:39537551-39538750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39549785-39550286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39550287-39550786 Neighboring gene keratin 31 Neighboring gene uncharacterized LOC100505782 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:39559942-39561141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39567789-39568290 Neighboring gene keratin 41, pseudogene

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. Expression of cytokeratin 34βE12 is a good indicator of tumor progression in esophageal squamous cell carcinoma. Ono M, et al. Biomed Res, 2012 Jun. PMID 22790218
  2. Evaluation of role of alpha-methyl acyl-coenzyme A racemase/P504S and high molecular weight cytokeratin in diagnosing prostatic lesions. Jain D, et al. J Cancer Res Ther, 2017 Jan-Mar. PMID 28508828
  3. Keratin 34betaE12/keratin7 expression is a prognostic factor of cancer-specific and overall survival in patients with early stage non-small cell lung cancer. Pøhl M, et al. Acta Oncol, 2016. PMID 26057535
  4. Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough. Pereira R, et al. Adv Med Sci, 2020 Mar. PMID 31835165
  5. Diagnostic Value of ERG in Prostate Needle Biopsies Containing Minute Cancer Foci. Bachurska SY, et al. Folia Med (Plovdiv), 2017 Mar 1. PMID 28384107

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough.
    Title: Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough.
  2. As an adjunct to biopsy, AMACR and HMWCK have value for resolving diagnostically challenging cases
    Title: Evaluation of role of alpha-methyl acyl-coenzyme A racemase/P504S and high molecular weight cytokeratin in diagnosing prostatic lesions.
  3. 95 of the prostate carcinoma biopsies demonstrated lack of cytokeratin 34betaE12 expression and only 3 cases showed weak patchy staining.
    Title: Diagnostic Value of ERG in Prostate Needle Biopsies Containing Minute Cancer Foci.
  4. Keratin 34betaE12/K7 expression is a prognostic parameter in resected early stage NSCLC that allows identification of high-risk NSCLC patients with poor cancer-specific and overall survival
    Title: Keratin 34betaE12/keratin7 expression is a prognostic factor of cancer-specific and overall survival in patients with early stage non-small cell lung cancer.
  5. CK34betaE12 expression is a good indicator of lymph node metastasis, depth of tumor invasion, and differentiation in case of Esophageal squamous cell carcinoma (ESCC).
    Title: Expression of cytokeratin 34βE12 is a good indicator of tumor progression in esophageal squamous cell carcinoma.
  6. Overexpressed in recurrent superficial urothelial carcinoma.
    Title: Cytokeratin 20, 34betaE12 and overexpression of HER-2/neu in urine cytology as predictors of recurrences in superficial urothelial carcinoma.
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

Pathways from PubChem

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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 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 epidermis development TAS
Traceable Author Statement
more info
 PubMed 
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 extracellular space HDA PubMed 
located_in intermediate filament IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
keratin, type I cuticular Ha4
Names
hair keratin, type I Ha4
hard keratin, type I, 4
keratin 34, type I
keratin, hair, acidic, 4

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_012291.1 RefSeqGene

    Range
    5079..9716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001386014.1 → NP_001372943.1  keratin, type I cuticular Ha4

    Status: REVIEWED

    Source sequence(s)
    AC003958
    Consensus CDS
    CCDS11390.2
    UniProtKB/Swiss-Prot
    O76011, Q8IUT8, Q8N4W2
    UniProtKB/TrEMBL
    A0A140TA69
    Related
    ENSP00000377570.3, ENST00000394001.3
    Conserved Domains (1) summary
    pfam00038
    Location:55 → 366
    Filament; Intermediate filament protein

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
    41377669..41383816 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524793.3 → XP_011523095.1  keratin, type I cuticular Ha4 isoform X1

    UniProtKB/TrEMBL
    A0A140TA69
    Conserved Domains (1) summary
    pfam00038
    Location:73 → 384
    Filament; Intermediate filament protein

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791801.1 Reference GRCh38.p14 PATCHES

    Range
    317573..323720 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333198.1 → XP_054189173.1  keratin, type I cuticular Ha4 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315953.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    57958..62596
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    42233202..42239349 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316040.1 → XP_054172015.1  keratin, type I cuticular Ha4 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_021013.3: Suppressed sequence

    Description
    NM_021013.3: This RefSeq was removed because currently there is support for the transcript but not for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O76011.3 GenPept UniProtKB/Swiss-Prot:O76011

Gene LinkOut

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

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