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KRTAP15-1 Gene

protein-coding   GIFtS: 37
GCID: GC21P031812

Keratin Associated Protein 15-1

  Search for KRTAP15-1
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 Associated Protein 15-11 2
KAP15.12 3
Keratin-Associated Protein 15-12

External Ids:    HGNC: 189271   Entrez Gene: 2549502   Ensembl: ENSG000001869707   UniProtKB: Q3LI763   

Export aliases for KRTAP15-1 gene to outside databases

Previous GC identifers: GC21P028473 GC21U900075 GC21P030733 GC21P030734 GC21P017221


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KRTAP15-1 Gene:
KRTAP15-1 (keratin associated protein 15-1) is a protein-coding gene. An important paralog of this gene is KRTAP13-2.

UniProtKB/Swiss-Prot: KR151_HUMAN, Q3LI76
Function: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix,
consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and
resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair
keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins




(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_000021.9  NC_018932.2  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRTAP15-1 gene promoter:
         Bach1   RFX1   AML1a   Lmo2   Nkx2-5   POU6F1 (c2)   HNF-3beta   S8   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRTAP15-1 promoter sequence
   Search Chromatin IP Primers for KRTAP15-1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRTAP15-1


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

Entrez Gene cytogenetic band: 21q22.1   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22.1

KRTAP15-1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP15-1 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21P031812:  view genomic region     (about GC identifiers)

Start:
31,812,597 bp from pter      End:
31,813,098 bp from pter
Size:
502 bases      Orientation:
plus strand

(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: KR151_HUMAN, Q3LI76 (See protein sequence)
Recommended Name: Keratin-associated protein 15-1  
Size: 137 amino acids; 14979 Da
Subunit: Interacts with hair keratins (By similarity)
Secondary accessions: Q2M3F4

Explore the universe of human proteins at neXtProt for KRTAP15-1: NX_Q3LI76

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • REFSEQ proteins: NP_853654.1  
    ENSEMBL proteins: 
     ENSP00000334866  

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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:
    KRTAP: Keratin associated proteins

    1 InterPro protein domain:
     IPR007951 KRTAP_PMG

    Graphical View of Domain Structure for InterPro Entry Q3LI76

    ProtoNet protein and cluster: Q3LI76

    UniProtKB/Swiss-Prot: KR151_HUMAN, Q3LI76
    Similarity: Belongs to the PMG family


    KRTAP15-1 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KR151_HUMAN, Q3LI76
    Function: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix,
    consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and
    resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair
    keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins

    Animal Models:

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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
    extracellular2
    cytosol1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    KRTAP15-1 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 KRTAP15-1
    Interactions:

        Search GeneGlobe Interaction Network for KRTAP15-1

    (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
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    Browse Tocris compounds for KRTAP15-1 (KR151)



    (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 KRTAP15-1 gene: 
    NM_181623.1  

    Unigene Cluster for KRTAP15-1:

    Keratin associated protein 15-1
    Hs.553654
    Unigene Representative Sequence: AB096942
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000334067(uc002yod.3)
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      QuantiFast Probe-based Assays in human, mouse, rat KRTAP15-1

    Additional mRNA sequence: 

    AB096942.1 BC104925.1 BC104927.1 

    1 DOTS entry:

    DT.100698570 

    1 AceView cDNA sequence:

    NM_181623 

    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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    KRTAP15-1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTATTTCTG
    KRTAP15-1 Expression
    About this image

    KRTAP15-1 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

    SOURCE GeneReport for Unigene cluster: Hs.553654
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    In Situ
    Assay Products:
     

     
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    (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 KRTAP15-1 gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krtap151 , 5 keratin associated protein 151, 5 71.08(n)1
    54.41(a)1
      16 (51.41 cM)5
    265601  NM_013713.11  NP_038741.11 
     888290095 


    ENSEMBL Gene Tree for KRTAP15-1 (if available)
    TreeFam Gene Tree for KRTAP15-1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KRTAP15-1 gene
    KRTAP13-22  KRTAP13-42  KRTAP13-12  KRTAP13-32  
    3 SIMAP similar genes for KRTAP15-1 using alignment to 1 protein entry:     KR151_HUMAN:
    KRTAP13-1    KRTAP13-2    KRTAP13-3

    KRTAP15-1 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 KRTAP15-1 (see all 87)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1464554631,2
    --31810681(+) AAGATC/TTGGAA 1 -- us2k10--------
    rs1135232201,2
    C,F--31810723(+) TGAGAG/AGCCTA 1 -- us2k11Minor allele frequency- A:0.00CSA 1
    rs28328711,2
    C,F,O,H--31810776(+) GTTACC/TTAATA 1 -- us2k1 tfbs314Minor allele frequency- T:0.47NA NS EA WA CSA 806
    rs1180941681,2
    F--31810835(+) ATAAAG/TTCTAC 1 -- us2k11Minor allele frequency- T:0.01NA 120
    rs1837365251,2
    --31810874(+) CCAGCC/TTCCTG 1 -- us2k10--------
    rs777099001,2
    C,F--31810904(+) ACAACA/GTCCTA 1 -- us2k11Minor allele frequency- G:0.05WA 118
    rs1866973181,2
    --31810908(+) CATCCC/TAATTA 1 -- us2k10--------
    rs1117704451,2
    C--31810966(+) AACTCG/ATTTTA 1 -- us2k11Minor allele frequency- A:0.00CSA 1
    rs1855585951,2
    --31811079(+) AGATGA/GATGTC 1 -- us2k10--------
    rs1906076971,2
    --31811131(+) CATCCA/GTGCCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KRTAP15-1 (31812597 - 31813098 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for KRTAP15-1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657178CNV Deletion23128226

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KRTAP15-1
    DNA2.0 Custom Variant and Variant Library Synthesis for KRTAP15-1

    (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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      --

    (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 KRTAP15-1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with KRTAP15-1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Characterization of a first domain of human high glycine-tyrosine and high sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1. (PubMed id 12359730)1, 3 Rogers M.A....Schweizer J. (J. Biol. Chem. 2002)
    3. 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)
    4. (PubMed id )2 

    (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: 254950 HGNC: 18927 AceView: KRTAP15-1 Ensembl:ENSG00000186970 euGenes: HUgn254950
    ECgene: KRTAP15-1 H-InvDB: KRTAP15-1

    (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 KRTAP15-1 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 KRTAP15-1 gene:
    Search GeneIP for patents involving KRTAP15-1

    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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