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    KRT34 keratin 34 [ Homo sapiens (human) ]

    Gene ID: 3885, updated on 2-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (41377669..41383816, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42233202..42239349, complement)
    RS_2024_09 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 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. The complement of native alpha-keratin polypeptides of hair-forming cells: a subset of eight polypeptides that differ from epithelial cytokeratins. Heid HW, et al. Differentiation, 1986. PMID 2431943
    5. 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

    See all (29) 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_2024_08

    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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