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KRT34 Gene

protein-coding   GIFtS: 47
GCID: GC17M039534

Keratin 34

(Previous names: keratin, hair, acidic, 4)
(Previous symbol: KRTHA4)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Keratin 341 2     hHa42
KRTHA41 2 3 5     Hard Keratin, Type I, 42
Keratin, Hair, Acidic, 41 2     Keratin, Type I Cuticular Ha42
Hair Keratin, Type I Ha42 3     keratin-342
K342 3     HHA43
HA42 5     HKA43
Hard Keratin Type I 41     Keratin-343
Ha-42     

External Ids:    HGNC: 64521   Entrez Gene: 38852   Ensembl: ENSG000001317377   OMIM: 6027635   UniProtKB: O760113   

Export aliases for KRT34 gene to outside databases

Previous GC identifers: GC17M036788 GC17M035298


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KRT34 Gene:
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)

GeneCards Summary for KRT34 Gene:
KRT34 (keratin 34) is a protein-coding gene. Diseases associated with KRT34 include collecting duct carcinoma, and esophageal squamous cell carcinoma. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT17.

Gene Wiki entry for KRT34 (Keratin 34) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRT34 gene promoter:
         CREB   FAC1   Spz1   Tal-1   Ik-2   Nkx2-5   Msx-1   LyF-1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT34 promoter sequence
   Search Chromatin IP Primers for KRT34

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT34


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21.2   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21.2

KRT34 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT34 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M039534:  view genomic region     (about GC identifiers)

Start:
39,533,902 bp from pter      End:
39,538,655 bp from pter
Size:
4,754 bases      Orientation:
minus strand

1 alternative location:
Chr17+,NW_003315953 57,880-62,596     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KRT34_HUMAN, O76011 (See protein sequence)
Recommended Name: Keratin, type I cuticular Ha4  
Size: 436 amino acids; 49424 Da
Miscellaneous: There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic)
Caution: It is uncertain whether Met-1 or Met-43 is the initiator
Sequence caution: Sequence=CAA76386.1; Type=Erroneous initiation;
Secondary accessions: Q8IUT8 Q8N4W2

Explore the universe of human proteins at neXtProt for KRT34: NX_O76011

Explore proteomics data for KRT34 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KRT34 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_066293.2  
    ENSEMBL proteins: 
     ENSP00000377570  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IFF1: Intermediate filaments type I, keratins (acidic)

    3 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR002957 Keratin_I

    Graphical View of Domain Structure for InterPro Entry O76011

    ProtoNet protein and cluster: O76011

    2 Blocks protein domains:
    IPB001664 Intermediate filament protein
    IPB002957 Type I keratin signature


    UniProtKB/Swiss-Prot: KRT34_HUMAN, O76011
    Similarity: Belongs to the intermediate filament family


    KRT34 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
         
    KRT34 for ontologies           About GeneDecksing


    Animal Models:
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    hsa-miR-502-5p hsa-miR-539 hsa-miR-525-5p hsa-miR-3919 hsa-miR-520a-5p
    SwitchGear 3'UTR luciferase reporter plasmidKRT34 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    cytosol3
    nucleus2
    extracellular1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005882intermediate filament IEA--

    KRT34 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KRT34
    Interactions:

        Search GeneGlobe Interaction Network for KRT34

    4 Interacting proteins for KRT34 (O760113) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG3Q927963I2D: score=2 
    PLEKHB2Q96CS73I2D: score=2 
    USP15Q9Y4E83I2D: score=2 
    YWHAGP619813I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008544epidermis development TAS9756910

    KRT34 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KRT34



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KRT34 gene: 
    NM_021013.3  

    Unigene Cluster for KRT34:

    Keratin 34
    Hs.296942  [show with all ESTs]
    Unigene Representative Sequence: BC041070
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000394001(uc002hwm.3)
    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate KRT34:
    hsa-miR-502-5p hsa-miR-539 hsa-miR-525-5p hsa-miR-3919 hsa-miR-520a-5p
    SwitchGear 3'UTR luciferase reporter plasmidKRT34 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KRT34
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    GenScript: all cDNA clones in your preferred vector: KRT34 (NM_021013)
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KRT34
      QuantiTect SYBR Green Assays in human, mouse, rat KRT34
      QuantiFast Probe-based Assays in human, mouse, rat KRT34

    Additional mRNA sequence: 

    AF086202.1 BC033252.1 BC041070.1 

    3 DOTS entries:

    DT.408285  DT.100737185  DT.91754618 

    Selected AceView cDNA sequences (see all 76):

    BM915709 AW169840 AA340065 BF197281 BC033252 NM_002279 BC009971 NM_021013 
    AJ633621 AW069789 AF086202 BM808576 NM_002277 NM_004138 BM423546 CB111679 
    BM926289 BF570391 AA326093 CB150240 BF569905 BM558305 AI078774 BM556055 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KRT34 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGCCACCACC
    KRT34 Expression
    About this image


    KRT34 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     NULL (Uncategorized)
             CD31, CD144 positive cells
    KRT34 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRT34 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.296942

    UniProtKB/Swiss-Prot: KRT34_HUMAN, O76011
    Tissue specificity: Expressed in the hair follicles

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT34

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for KRT34 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt341 , 5 keratin 341, 5 87.59(n)1
    87.24(a)1
      11 (63.38 cM)5
    166721  NM_027563.31  NP_081839.11 
     1000373475 


    ENSEMBL Gene Tree for KRT34 (if available)
    TreeFam Gene Tree for KRT34 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KRT34 gene
    KRT172  KRT162  KRT312  KRT252  KRT392  KRT402  KRT202  KRT372  
    KRT272  KRT322  KRT382  KRT362  KRT192  KRT282  KRT142  KRT132  
    KRT262  KRT102  KRT122  KRT352  KRT152  KRT242  KRT92  KRT33B2  
    KRT33A2  
    Selected SIMAP similar genes for KRT34 using alignment to 2 protein entries:     KRT34_HUMAN (see all proteins) (see all similar genes):
    KRT31    KRT33B    KRT33A    KRT19    KRT35    KRT36
    KRT15    KRT37    KRTHA7    KRT16    KRT14    KRT32
    KRT38    JUP    KRT20    keratin    KRT39    KRT13

    KRT34 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KRT34 (see all 276)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs104911301,2
    C,F,H--35297526(-) GTTTCC/TTGAAC 2 -- ut31 ese313Minor allele frequency- T:0.04NS EA NA 784
    rs762493221,2
    C,F--35297987(+) ATTCTC/TAGTGG 1 -- int11Minor allele frequency- T:0.04WA 118
    rs7571021,2
    C,F,O,H--35298445(-) CAGGAG/AACCTC 1 -- int131Minor allele frequency- A:0.15MN NA NS EA WA 3506
    rs713833941,2
    C--35299656(+) AATTGC/TTGTCC 1 -- int13Minor allele frequency- T:0.12NA WA 122
    rs169667541,2
    C,F,H--35301412(+) GCAATA/CGTAGG 1 -- int113Minor allele frequency- C:0.01NA NS EA WA 1352
    rs352624431,2
    C,F--35302395(+) TTCCTC/TACCCA 1 -- us2k13Minor allele frequency- T:0.05NA 124
    rs1154001011,2
    C,F--35303172(-) GAGACT/CATAGT 1 -- us2k11Minor allele frequency- C:0.05WA 118
    rs10516021,2
    C,F,H--39534036(-) ACTTAA/C/G/
            
    GGTGT
    3 -- ut31 ese330NS MN NA EA CSA WA 2766
    rs1493441431,2
    C--39534363(+) TGCCAC/GTAGCA 2 T S mis11Minor allele frequency- G:0.00NA 4552
    rs1161165041,2
    C,F--39534366(+) CACTAG/ACATTG 2 /A /V mis12Minor allele frequency- A:0.00WA NA 4670

    HapMap Linkage Disequilibrium report for KRT34 (39533902 - 39538655 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KRT34 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509656CNV Insertion20534489
    nsv2052CNV Insertion18451855
    nsv513753CNV Insertion21212237
    nsv483014CNV Loss15286789
    nsv525048CNV Gain19592680
    nsv499238CNV Gain21111241
    nsv9554CNV Gain18304495
    nsv817764CNV Gain17921354
    esv24006CNV Gain19812545
    dgv526n67CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602763    OMIM disorders: --

    5 diseases for KRT34:    
    About MalaCards
    collecting duct carcinoma    esophageal squamous cell carcinoma    esophagitis    squamous cell carcinoma
    endotheliitis


    KRT34 for disorders           About GeneDecksing


    Export disorders for KRT34 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KRT34 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with KRT34)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a 190-kilobase pair domain of human type I hair keratin genes. (PubMed id 9756910)1, 2, 3 Rogers M.A.... Schweizer J. (J. Biol. Chem. 1998)
    2. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (J. Cell Biol. 2006)
    3. The complement of native alpha-keratin polypeptides of hair-forming cells: a subset of eight polypeptides that differ from epithelial cytokeratins. (PubMed id 2431943)1, 3 Heid H.W....Franke W.W. ( research in biological diversity 1986)
    4. Expression of cytokeratin 34I^E12 is a good indicator of tumor progression in esophageal squamous cell carcinoma. (PubMed id 22790218)1 Ono M....Igarashi Y. (Biomed. Res. 2012)
    5. Defining the human deubiquitinating enzyme interaction landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (Cell 2009)
    6. Charting the molecular network of the drug target Bcr-Abl. (PubMed id 19380743)1 Brehme M....Superti-Furga G. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    7. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M....Figeys D. (Mol. Syst. Biol. 2007)
    8. Cytokeratin 20, 34betaE12 and overexpression of HER-2/neu in urine cytology as predictors of recurrences in superficial urothelial carcinoma. (PubMed id 16286979)1 Raica M....CArmpean A.M. (Rom J Morphol Embryol 2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3885 HGNC: 6452 AceView: KRTHA_ Ensembl:ENSG00000131737 euGenes: HUgn3885
    ECgene: KRT34 H-InvDB: KRT34

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KRT34 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KRT34 gene:
    Search GeneIP for patents involving KRT34

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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