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

KRTAP5-7 Gene

protein-coding   GIFtS: 32
GCID: GC11P071238

Keratin Associated Protein 5-7

  Search for KRTAP5-7
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 Associated Protein 5-71 2     KRTAP5-32
Keratin-Associated Protein 5-32 3     Keratin-Associated Protein 5-72
Keratin-Associated Protein 5.32 3     KAP5-73
Keratin-Associated Protein 5.72 3     KAP5.33
Ultrahigh Sulfur Keratin-Associated Protein 5.72 3     KRTAP5.33
KRTAP5.72 3     

External Ids:    HGNC: 236021   Entrez Gene: 4400502   Ensembl: ENSG000002444117   UniProtKB: Q6L8G83   

Export aliases for KRTAP5-7 gene to outside databases

Previous GC identifers: GC00U913943 GC11P070919 GC11P067531


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

GeneCards Summary for KRTAP5-7 Gene: 
KRTAP5-7 (keratin associated protein 5-7) is a protein-coding gene.

UniProtKB/Swiss-Prot: KRA57_HUMAN, Q6L8G8
Function: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix,
consisting of hair keratin-associated protein (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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRTAP5-7 gene promoter:
         PPAR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRTAP5-7 promoter sequence
   Search SABiosciences Chromatin IP Primers for KRTAP5-7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP5-7


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

Entrez Gene cytogenetic band: 11q13.4   Ensembl cytogenetic band:  11q13.4   HGNC cytogenetic band: 11q13.4

KRTAP5-7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP5-7 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P071238:  view genomic region     (about GC identifiers)

Start:
71,238,313 bp from pter      End:
71,239,210 bp from pter
Size:
898 bases      Orientation:
plus strand

(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: KRA57_HUMAN, Q6L8G8 (See protein sequence)
Recommended Name: Keratin-associated protein 5-7  
Size: 165 amino acids; 15150 Da
Subunit: Interacts with hair keratins
Secondary accessions: B2RNM3 Q701N5

Explore the universe of human proteins at neXtProt for KRTAP5-7: NX_Q6L8G8

Explore proteomics data for KRTAP5-7 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6L8G8

  • KRTAP5-7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KRTAP5-7 Protein Expression
    REFSEQ proteins: NP_001012521.1  
    ENSEMBL proteins: 
     ENSP00000417330  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045095keratin filament IEA--

    KRTAP5-7 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KRTAP: Keratin associated proteins

    1 InterPro protein domain:
     IPR002494 Keratin-assoc

    Graphical View of Domain Structure for InterPro Entry Q6L8G8

    ProtoNet protein and cluster: Q6L8G8

    UniProtKB/Swiss-Prot: KRA57_HUMAN, Q6L8G8
    Similarity: Belongs to the KRTAP type 5 family


    KRTAP5-7 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KRA57_HUMAN, Q6L8G8
    Function: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix,
    consisting of hair keratin-associated protein (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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    (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 KRTAP5-7

    (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 KRTAP5-7 (KRA57)

    Search CenterWatch for drugs/clinical trials and news about KRTAP5-7 / KRA57

    (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,
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    About This Section

    REFSEQ mRNAs for KRTAP5-7 gene: 
    NM_001012503.1  

    Unigene Cluster for KRTAP5-7:

    Keratin associated protein 5-7
    Hs.710675  [show with all ESTs]
    Unigene Representative Sequence: AJ628243
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000398536(uc001oqq.1)
    miRNA
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    Additional mRNA sequence: 

    AB126076.1 AJ628243.1 BC136967.1 BC136968.1 

    1 DOTS entry:

    DT.102825017 

    24/263 AceView cDNA sequences (see all 263):

    AW009517 NM_018161 BG272124 AI678027 AI921634 BX283748 BQ719229 AI927502 
    AA857884 AJ628243 BC015237 AI658748 BM728592 BU684632 AI471222 BQ008472 
    BE158957 AK097946 CA444605 BG289242 BI908307 BF514939 AW134868 AI560989 

    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

    KRTAP5-7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCGACAAACT
    KRTAP5-7 Expression
    About this image


    See KRTAP5-7 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.710675

    UniProtKB/Swiss-Prot: KRA57_HUMAN, Q6L8G8
    Tissue specificity: Expressed in hair root but not in skin

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRTAP5-7

    (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 KRTAP5-7 gene from 1/4 species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    zebrafish
    (Danio rerio)
    Actinopterygii --
    CABZ01056821.26
    Uncharacterized protein
    19(a)
    18(a)
    many ↔ many
    many ↔ many
    23(41555122-41555796)
    23(41563198-41563920)
            Species with no ortholog for KRTAP5-7

    ENSEMBL Gene Tree for KRTAP5-7 (if available)
    TreeFam Gene Tree for KRTAP5-7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/118 SNPs in KRTAP5-7 are shown (see all 118)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1381623961,2
    --71236372(+) GCATGG/TCCATG 1 -- us2k10--------
    rs1437398631,2
    --71236455(+) TTAGCA/GTGACT 1 -- us2k10--------
    rs1440283041,2
    C--71236634(+) TTGGAA/GCACTG 1 -- us2k10--------
    rs108982341,2
    C,F,A,H--71236684(+) AAAAGA/GCCCCA 1 -- us2k19Minor allele frequency- G:0.31NS EA CSA WA NA 767
    rs49450131,2
    C,F,A,H--71236763(+) aggtgT/Cgtaga 1 -- us2k126Minor allele frequency- C:0.12NS EA NA WA CSA 1732
    rs49440801,2
    C,F,H--71236928(+) ccacaT/Cagagt 1 -- us2k113Minor allele frequency- C:0.11NA WA CSA EA 378
    rs1127941431,2
    C,F--71236944(+) CTGGGG/ACATTG 1 -- us2k12Minor allele frequency- A:0.05CSA WA 120
    rs112340301,2
    C,A--71236967(+) GTGGGG/AAGGAG 1 -- us2k15Minor allele frequency- A:0.32CSA WA NA EA 361
    rs1117772531,2
    C--71237018(+) AGCTTA/GCATCT 1 -- us2k10--------
    rs1862462921,2
    --71237082(+) GGTGCA/GAACCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KRTAP5-7 (71238313 - 71239210 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for KRTAP5-7:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2674144CNV Deletion23128226
    esv2744750CNV Deletion23290073
    nsv897896CNV Gain21882294
    dgv1217n71CNV Gain21882294

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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
      --

    (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 KRTAP5-7 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KRTAP5-7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of two novel clusters of ultrahigh-sulfur keratin- associated protein genes on human chromosome 11. (PubMed id 15144888)1, 2, 3 Yahagi S....Shimizu N. (2004)
    2. 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. (2004)
    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. (2002)

    (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: 440050 HGNC: 23602 AceView: NADSYN1 Ensembl:ENSG00000244411 euGenes: HUgn440050
    ECgene: KRTAP5-7 H-InvDB: KRTAP5-7

    (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 KRTAP5-7 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 KRTAP5-7 gene:
    Search GeneIP for patents involving KRTAP5-7

    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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