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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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   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 Chromatin IP Primers for KRT31

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp, and/or others.)
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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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KRT31 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002268.2  
    ENSEMBL proteins: 
     ENSP00000251645  

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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 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,
    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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity ----
    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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    miRNA
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    2 qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat KRT31

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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
    cytoskeleton4
    cytosol3
    mitochondrion2
    extracellular1
    nucleus1
    peroxisome1

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

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

    KRT31 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 KRT31
    Interactions:

        Search GeneGlobe Interaction Network for KRT31

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

    Selected 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:    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, 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 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,
    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 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 qRT-PCR 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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      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 

    Selected AceView cDNA sequences (see all 76):

    NM_021013 AW069789 BC009971 AJ633621 AF086202 AW169840 BM915709 BC033252 
    NM_004138 BF197281 NM_002277 NM_002279 BM808576 AA340065 BM557279 BM913106 
    BM423546 BX114001 BM556172 BQ184057 BF569905 BC069135 BM913326 BM558305 

    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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    KRT31 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Epithelial Cells
             Fetal Medulla Cells Hair Shaft
     
     Hair (Integumentary System)    fully expand to see all 4 entries
             Fetal Medulla Cells Hair Shaft
    KRT31 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRT31 Protein Expression

    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

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

    Orthologs for KRT31 gene from Selected 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)
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    Paralogs for KRT31 gene
    KRT342  KRT172  KRT162  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 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), 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 KRT31 (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing 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.)
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    OMIM gene information: 601077    OMIM disorders: --

    5 diseases for KRT31:    
    About MalaCards
    nodular basal cell carcinoma    skin pilomatrix carcinoma    basal cell carcinoma    ataxia
    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)
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    PubMed articles for KRT31 gene, integrated from 10 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. (Biochim. Biophys. Acta 1995)
    2. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (J. Cell Biol. 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. (J. Biol. Chem. 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. (J. Invest. Dermatol. 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. (J. Biol. Chem. 1999)
    6. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    7. Proteomic analysis of integrin-associated complexes identifies RCC2 as a dual regulator of Rac1 and Arf6. (PubMed id 19738201)1 Humphries J.D....Humphries M.J. (Sci Signal 2009)
    8. Defining the human deubiquitinating enzyme interaction landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (Cell 2009)
    9. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M....Figeys D. (Mol. Syst. Biol. 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. (Cell 2006)

    (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: 3881 HGNC: 6448 AceView: KRTHA_ Ensembl:ENSG00000094796 euGenes: HUgn3881
    ECgene: KRT31 H-InvDB: KRT31

    (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 KRT31 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 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, 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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