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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KRT31 Gene

protein-coding   GIFtS: 51
GCID: GC17M039549

Keratin 31

(Previous names: keratin, hair, acidic, 1)
(Previous symbol: KRTHA1)
  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)
About This Section

Aliases
Keratin 311 2     hHa12
KRTHA11 2 3 5     Hard Keratin, Type I, 12
Hair Keratin, Type I Ha12 3     Keratin, Hair, Acidic,12
K312 3     Keratin, Type I Cuticular Ha12
HA12 5     keratin-312
Hard Keratin Type I 11     HHA13
Keratin, Hair, Acidic, 11     HKA13
Ha-12     Keratin-313

External Ids:    HGNC: 64481   Entrez Gene: 38812   Ensembl: ENSG000000947967   OMIM: 6010775   UniProtKB: Q153233   

Export aliases for KRT31 gene to outside databases

Previous GC identifers: GC17M036804 GC17M035313


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KRT31 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 KRT31 Gene: 
KRT31 (keratin 31) is a protein-coding gene. Diseases associated with KRT31 include nodular basal cell carcinoma, and skin pilomatrix carcinoma. GO annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is KRT34.

Gene Wiki entry for KRT31 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRT31 gene promoter:
         Tal-1   Bach2   Nkx2-5   Meis-1b   E47   FAC1   c-Myb   Meis-1a   MRF-2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT31 promoter sequence
   Search SABiosciences Chromatin IP Primers for KRT31

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT31


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

KRT31 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT31 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M039549:  view genomic region     (about GC identifiers)

Start:
39,549,976 bp from pter      End:
39,553,844 bp from pter
Size:
3,869 bases      Orientation:
minus strand

1 alternative location:
Chr17+,NW_003315953 35,369-39,237     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: K1H1_HUMAN, Q15323 (See protein sequence)
Recommended Name: Keratin, type I cuticular Ha1  
Size: 416 amino acids; 47237 Da
Miscellaneous: There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic)
Secondary accessions: Q9UE12

Explore the universe of human proteins at neXtProt for KRT31: NX_Q15323

Explore proteomics data for KRT31 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15323

  • KRT31 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KRT31 Protein Expression
    REFSEQ proteins: NP_002268.2  
    ENSEMBL proteins: 
     ENSP00000251645  

    Human Recombinant Protein Products for KRT31: 
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    Cloud-Clone Corp. Proteins for KRT31 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005882intermediate filament IEA--

    KRT31 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for KRT31


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

    4 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR016044 F
     IPR002957 Keratin_I

    Graphical View of Domain Structure for InterPro Entry Q15323

    ProtoNet protein and cluster: Q15323

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


    UniProtKB/Swiss-Prot: K1H1_HUMAN, Q15323
    Similarity: Belongs to the intermediate filament family


    KRT31 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200structural constituent of cytoskeleton TAS9405442
         
    KRT31 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KRT31:
     Decreased Hepatitis C virus re 

    Animal Models:
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    hsa-miR-502-5p hsa-miR-4268
    SwitchGear 3'UTR luciferase reporter plasmidKRT31 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KRT31

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/32 Interacting proteins for KRT31 (Q153232, 3 ENSP000002516454) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATN1P542592, 3, ENSP000003490764MINT-2860302 I2D: score=3 STRING: ENSP00000349076
    DLG3Q927963, ENSP000003634804I2D: score=2 STRING: ENSP00000363480
    DNPEPQ9ULA03, ENSP000002730754I2D: score=2 STRING: ENSP00000273075
    TWF2Q6IBS03, ENSP000003039084I2D: score=2 STRING: ENSP00000303908
    CDK12Q9NYV43, ENSP000003988804I2D: score=1 STRING: ENSP00000398880
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008544epidermis development TAS7578244

    KRT31 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KRT31 (K1H1)

    Search CenterWatch for drugs/clinical trials and news about KRT31 / K1H1

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KRT31 gene: 
    NM_002277.2  

    Unigene Cluster for KRT31:

    Keratin 31
    Hs.41696  [show with all ESTs]
    Unigene Representative Sequence: NM_002277
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000251645(uc002hwn.3 uc010cxn.3)
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate KRT31:
    hsa-miR-502-5p hsa-miR-4268
    SwitchGear 3'UTR luciferase reporter plasmidKRT31 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT31

    Additional mRNA sequence: 

    AK313419.1 BC114468.1 X86570.1 

    4 DOTS entries:

    DT.209056  DT.100737185  DT.91754618  DT.120922651 

    24/76 AceView cDNA sequences (see all 76):

    NM_002277 BC033252 BC009971 BM808576 AW069789 AW169840 NM_002279 NM_004138 
    NM_021013 AJ633621 AF086202 AA340065 BM915709 BF197281 BF570391 BQ184057 
    BM913326 BM423546 BF569905 BM913106 BX114001 W49755 BM926289 BM557279 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KRT31 expression in normal human tissues (normalized intensities)      KRT31 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGGAGTTG
    KRT31 Expression
    About this image


    KRT31 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Hair (Integumentary System)    fully expand to see all 3 entries
             Fetal Medulla Cells Hair Shaft

     -- (Integumentary System)
             skin   

    See KRT31 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KRT31

    SOURCE GeneReport for Unigene cluster: Hs.41696

    UniProtKB/Swiss-Prot: K1H1_HUMAN, Q15323
    Tissue specificity: Present in scalp but not in hairless skin. Abundantly expressed in the differentiating cortex
    of growing (anagen) hair. Expression is restricted to the keratinocytes of the hair cortex and is absent from
    inner root sheath and medulla

        SABiosciences Custom PCR Arrays for KRT31
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT31

    (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)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for KRT31 gene from 1/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt311 , 5 keratin 311, 5 86.86(n)1
    89.9(a)1
      11 (63.39 cM)5
    166601  NM_010659.21  NP_034789.21 
     1000466465 


    ENSEMBL Gene Tree for KRT31 (if available)
    TreeFam Gene Tree for KRT31 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRT31 gene
    KRT342  KRT172  KRT162  KRT252  KRT392  KRT402  KRT372  KRT272  
    KRT322  KRT382  KRT362  KRT192  KRT282  KRT142  KRT132  KRT262  
    KRT102  KRT122  KRT352  KRT152  KRT242  KRT92  KRT33B2  KRT33A2  
    18/38 SIMAP similar genes for KRT31 using alignment to 1 protein entry:     K1H1_HUMAN(see all similar genes):
    type I hair keratin    KRT33A    KRT33B    KRT34    KRT36    KRT19
    KRT15    KRT32    KRT35    KRT37    KRT16    KRT13
    KRT14    KRT20    KRT38    KRTHA7    KRT10    KRT12

    KRT31 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/226 SNPs in KRT31 are shown (see all 226)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1166446901,2
    C,F--35313108(-) CTGAAC/TCTGAA 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs803537101,2
    C,F--35316023(+) CTTATC/TTCTCT 1 -- int11Minor allele frequency- T:0.02WA 118
    rs169667761,2
    C,F,H--35317615(+) ACAGTC/TCAGCC 1 -- us2k112Minor allele frequency- T:0.02NA NS EA 1194
    rs129499241,2
    C,F,H--39549632(+) AGAACA/GTGAGT 2 -- ds500110Minor allele frequency- G:0.08NS EA NA CSA WA 663
    rs728281661,2
    C--39549926(+) TACTCA/GGGTGA 2 -- ds50014Minor allele frequency- G:0.07CSA WA NA EA 360
    rs10474501,2
    C,F,O,H--39550114(-) GTAGCC/ATCCCC 2 -- ut3118Minor allele frequency- A:0.05MN NA NS EA 2404
    rs10474491,2
    C,F,A,H--39550151(-) GCCCGC/AGTAAG 2 -- ut31 ese322Minor allele frequency- A:0.12MN NA NS EA CSA WA 2650
    rs10474481,2
    C,F,A,H--39550252(-) ATGCCA/GGAGGA 2 -- ut31 ese326Minor allele frequency- G:0.10MN NA NS EA CSA WA EU 3491
    rs1846950471,2
    C--39550277(+) CGCACA/GAAGGA 4 F syn10--------
    rs1384340021,2
    C,F--39550308(+) GGCGTG/AGGGCA 4 /P /L mis12Minor allele frequency- A:0.00NA EU 5789

    HapMap Linkage Disequilibrium report for KRT31 (39549976 - 39553844 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for KRT31:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2052CNV Insertion18451855
    nsv483014CNV Loss15286789
    dgv961e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): KRT31
    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 601077    OMIM disorders: --

    4 diseases for KRT31:    About MalaCards
    nodular basal cell carcinoma    skin pilomatrix carcinoma    basal cell carcinoma    esophagitis

    2 diseases from the University of Copenhagen DISEASES database for KRT31:
    Skin pilomatrix carcinoma     Nodular basal cell carcinoma

    KRT31 for disorders           About GeneDecksing


    Export disorders for KRT31 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)
    About This Section

    PubMed articles for KRT31 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with KRT31)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A cDNA encoding the human type I hair keratin hHal. (PubMed id 7578244)1, 2, 3 Fink P.... Schweizer J. (1995)
    2. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (2006)
    3. Characterization of a 190-kilobase pair domain of human type I hair keratin genes. (PubMed id 9756910)1, 2 Rogers M.A.... Schweizer J. (1998)
    4. Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle. (PubMed id 9457912)1, 2 Bowden P.E.... Hodgins M.B. (1998)
    5. The catalog of human hair keratins. I. Expression of the nine type I members in the hair follicle. (PubMed id 10391933)1, 9 Langbein L....Schweizer J. (1999)
    6. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    7. Proteomic analysis of integrin-associated complexes i dentifies RCC2 as a dual regulator of Rac1 and Arf6. (PubMed id 19738201)1 Humphries J.D....Humphries M.J. (2009)
    8. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
    9. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M.... Figeys D. (2007)
    10. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (2006)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3881 HGNC: 6448 AceView: KRTHA_ Ensembl:ENSG00000094796 euGenes: HUgn3881
    ECgene: KRT31 H-InvDB: KRT31

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KRT31 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KRT31 gene:
    Search GeneIP for patents involving KRT31

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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