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

KRT31 Gene

protein-coding   GIFtS: 50
GCID: GC17M039549

keratin 31

(Previous names: keratin, hair, acidic, 1 )
(Previous symbol: KRTHA1)
 Explore 6 diseases affiliated with
KRT31 via our new
 Human Malady Compendium 
Biological research products
for KRT31
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Keratin 311 2     Hard Keratin, Type I, 12
KRTHA11 2 3 5     Keratin, Hair, Acidic,12
Ha-11 2     Keratin, Type I Cuticular Ha12
Hair Keratin, Type I Ha12 3     Keratin-313
K312 3     HHA13
HA12 5     HKA13
Keratin, Hair, Acidic, 11     Keratin-313
HHa11     

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:
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)

Gene Wiki entry for KRT31


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
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: 17q12-q21   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q12-q21

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+,PATCHES 39,495,068-39,498,936     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15323

  • KRT31 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002268.2  
    ENSEMBL proteins: 
     ENSP00000251645  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: KRT31
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    Browse ProSpec Recombinant Proteins
    Uscn 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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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    KRT31 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry Q15323

    ProtoNet protein and cluster: Q15323

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


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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    hsa-miR-502-5p hsa-miR-4268
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    Inhib. RNA
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    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


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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, 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
    Search CenterWatch for drugs/clinical trials and news about KRT31 / K1H1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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 cDNA 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):

    BF197281 AW069789 BM915709 AJ633621 BC009971 BM808576 NM_021013 AA340065 
    AW169840 NM_004138 BC033252 NM_002279 NM_002277 AF086202 AA326093 BM423546 
    BM809363 BM915177 AW206500 BM915230 CB150240 BM556055 AI131081 X82634 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTGGAGTTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    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:
     

     
    Search Advanced Cell Diagnostics for 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 chordates.

    Orthologs for KRT31 gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia B6Z1W3_ANOCA6
    B6Z1W2_ANOCA6
    Keratin aHA1
    48(a)
    41(a)
    many ↔ many
    many ↔ many
    6(70606275-70614367)
    6(70591466-70598937)
    zebrafish
    (Danio rerio)
    Actinopterygii si:rp71-1n18.16
    cyt16
    (see all 15)
    type I cytokeratin, enveloping layer
    (see all 15)
    42(a)
    39(a)
    (see all 15)
    many ↔ many
    many ↔ many
    (see all 15)
    22(11885419-11889710)
    19(5986623-5988852)


    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  KRT2222  ENSG000002640582  KRT352  KRT392  KRT402  BFSP22  KRT372  
    KRT322  KRT382  KRT362  KRT33B2  KRT33A2  
    18/37 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, UniProtKB, 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

    10/163 NCBI SNPs in KRT31 are shown (see all 163    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
    rs129469571,2
    C,F,--35313256(+) ATAGGG/AACTGC 1 -- ds50014Minor allele frequency- A:0.10NA WA 124
    rs728281651,2
    C,--35313345(+) TCCCCC/TGAGGC 1 -- ds50010--------
    rs739834111,2
    C,--35313491(+) AATGAC/TATTTA 1 -- ut311Minor allele frequency- T:0.50WA 2
    rs1129658601,2
    F--35313568(+) AGACCC/TCCAGG 1 -- ut312Minor allele frequency- T:0.50CSA 4
    rs46402421,2
    H--35315590(+) AAGTTT/AGCTTG 1 -- int14Minor allele frequency- A:0.00NS EA 410
    rs1133926751,2
    --35315654(+) GCTGTC/GAGGAC 1 -- int11Minor allele frequency- G:0.00CSA 1
    rs802691621,2
    F,--35315755(+) CCCCTC/TCCAAG 1 -- int11Minor allele frequency- T:0.03NA 120
    rs803537101,2
    C,F,--35316023(+) CTTATC/TTCTCT 1 -- int11Minor allele frequency- T:0.02WA 118
    rs1116646691,2
    F--35316417(+) TTTCCC/ACTTTC 1 -- int12Minor allele frequency- A:0.50CSA 4

    HapMap Linkage Disequilibrium report for KRT31 (39549976 - 39553844 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for KRT31
         3 CNVs: 0205 35457 4036
    Human Gene Mutation Database (HGMD): KRT31

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    KRT31 for disorders           About GeneDecksing

    OMIM gene information: 601077    OMIM disorders: --

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

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

    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 18):
    (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. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
    8. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M.... Figeys D. (2007)
    9. 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)
    10. On the regulation of hair keratin expression: lessons from studies in pilomatricomas. (PubMed id 15140206)1 Cribier B....Schweizer J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    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

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     OriGene Antibodies for KRT31   OriGene shRNA RFP for KRT31  
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     KRT31 Proteins, Antibodies, CLIAs, and ELISAs
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     Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for KRT31
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT31
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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