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

KRTAP10-7 Gene

protein-coding   GIFtS: 35
GCID: GC21P046020

Keratin Associated Protein 10-7


(Previous symbol: KRTAP18-7)
  See related disease
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 10-71 2     Keratin-Associated Protein 10-72
KRTAP18-71 2 3     KAP18-73
High Sulfur Keratin-Associated Protein 10.72 3     KRTAP10.73
Keratin-Associated Protein 18.72 3     KRTAP18.73
KAP10.72 3     Keratin-Associated Protein 10.73
KAP18.72     Keratin-Associated Protein 18-73
Keratin Associated Protein 18-72     

External Ids:    HGNC: 229701   Entrez Gene: 3866752   Ensembl: ENSG000002054417   UniProtKB: P604093   

Export aliases for KRTAP10-7 gene to outside databases

Previous GC identifers: GC21U900091 GC21P044844 GC21P031394


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

GeneCards Summary for KRTAP10-7 Gene: 
KRTAP10-7 (keratin associated protein 10-7) is a protein-coding gene. Diseases associated with KRTAP10-7 include fraser syndrome. An important paralog of this gene is KRTAP10-6.

UniProtKB/Swiss-Prot: KR107_HUMAN, P60409
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000021.8  NT_011515.12  NC_018932.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRTAP10-7 gene promoter:
         TBP   Olf-1   MyoD   AP-4   CUTL1   Roaz   SEF-1 (1)   Meis-1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRTAP10-7 promoter sequence
   Search SABiosciences Chromatin IP Primers for KRTAP10-7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP10-7


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

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3

KRTAP10-7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP10-7 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21P046020:  view genomic region     (about GC identifiers)

Start:
46,020,497 bp from pter      End:
46,022,091 bp from pter
Size:
1,595 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: KR107_HUMAN, P60409 (See protein sequence)
Recommended Name: Keratin-associated protein 10-7  
Size: 375 amino acids; 37816 Da
Subunit: Interacts with hair keratins
Secondary accessions: Q0VDJ8 Q70LJ2
Alternative splicing: 2 isoforms:  P60409-1   P60409-2   

Explore the universe of human proteins at neXtProt for KRTAP10-7: NX_P60409

Explore proteomics data for KRTAP10-7 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P60409

  • KRTAP10-7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KRTAP10-7 Protein Expression
    REFSEQ proteins: NP_941962.1  
    ENSEMBL proteins: 
     ENSP00000369445  

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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--

    KRTAP10-7 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 P60409

    ProtoNet protein and cluster: P60409

    UniProtKB/Swiss-Prot: KR107_HUMAN, P60409
    Similarity: Belongs to the KRTAP type 10 family


    KRTAP10-7 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: KR107_HUMAN, P60409
    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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    (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 KRTAP10-7

    (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 KRTAP10-7 (KR107)

    Search CenterWatch for drugs/clinical trials and news about KRTAP10-7 / KR107

    (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 KRTAP10-7 gene: 
    NM_198689.2  

    Unigene Cluster for KRTAP10-7:

    Keratin associated protein 10-7
    Hs.473999
    Unigene Representative Sequence: NM_198689
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000380102
    miRNA
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    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRTAP10-7
    Clone
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    OriGene clones in human, mouse for KRTAP10-7 (see all 5)
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    GenScript: all cDNA clones in your preferred vector: KRTAP10-7 (NM_198689)
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                         Customized lentivirus expression plasmids for stable overexpression of KRTAP10-7 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRTAP10-7

    Additional mRNA sequence: 

    AB076354.1 AJ566385.1 BC119643.2 

    1 DOTS entry:

    DT.101978797 

    3 AceView cDNA sequences:

    NM_198689 AB076354 AJ566385 

    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

    KRTAP10-7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KRTAP10-7 Expression
    About this image


    See KRTAP10-7 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.473999

    UniProtKB/Swiss-Prot: KR107_HUMAN, P60409
    Tissue specificity: Restricted to a narrow region of the hair fiber cuticle, lying approximately 20 cell layers
    above the apex of the dermal papilla of the hair root; not detected in any other tissues

        SABiosciences Custom PCR Arrays for KRTAP10-7
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRTAP10-7

    (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 animals.

    Orthologs for KRTAP10-7 gene from 1/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    fruit fly
    (Drosophila melanogaster)
    Insecta Pif26
    CG341676
    --
    44(a)
    26(a)
    1 ↔ many
    possible ortholog
    3R(2374758-2375705)
    2L(16002981-16003641)
            Species with no ortholog for KRTAP10-7

    ENSEMBL Gene Tree for KRTAP10-7 (if available)
    TreeFam Gene Tree for KRTAP10-7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRTAP10-7 gene
    KRTAP10-61 2  KRTAP10-22  KRTAP10-112  KRTAP10-52  KRTAP10-92  KRTAP10-102  KRTAP16-12  KRTAP10-12  
    KRTAP10-82  KRTAP10-32  KRTAP10-42  KRTAP10-122  KRTAP29-12  
    13 SIMAP similar genes for KRTAP10-7 using alignment to 1 protein entry:     KR107_HUMAN:
    KRTAP10-6    KRTAP10-4    KRTAP10-3    KRTAP2.1B    KRTAP10-1    KRTAP10-11
    KRTAP10-9    KRTAP10-5    KRTAP10-2    KRTAP18.9s    KRTAP10-12    KRTAP10-8
    KRTAP12-2

    KRTAP10-7 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

    10/191 SNPs in KRTAP10-7 are shown (see all 191)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0478554
    ----see VAR_0478552 T A mis40--------
    VAR_0478544
    ----see VAR_0478542 S T mis40--------
    VAR_0478524
    ----see VAR_0478522 M V mis40--------
    VAR_0478534
    ----see VAR_0478532 Q K mis40--------
    rs3924511,2
    C,F,H--36517445(+) CTTCCG/ACCGCT 1 -- us2k121Minor allele frequency- A:0.17MN NS EA NA WA CSA 1392
    rs4175381,2
    C,F,H--36517727(+) ttcatA/Ttttca 1 -- us2k1 tfbs314Minor allele frequency- T:0.17NS EA NA WA CSA 643
    rs1510392301,2
    --36517800(+) TTAAAC/GATGTC 1 -- us2k10--------
    rs27420671,2
    C,A--36517971(+) CCATTT/CTCTCT 1 -- us2k1 trp32Minor allele frequency- C:0.25WA NA 4
    rs587745281,2
    C--36518008(+) CTCTC-/AATGTA
            
    CTTCC
    1 -- us2k11Minor allele frequency- AATGTA:0.00CSA 2
    rs48187241,2
    C,H--36518023(+) CATCCC/TGTAGG 1 -- us2k12Minor allele frequency- T:0.00NA 6

    HapMap Linkage Disequilibrium report for KRTAP10-7 (46020497 - 46022091 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for KRTAP10-7 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2660233CNV Deletion23128226
    esv2723674CNV Deletion23290073
    esv2751931CNV Loss17911159
    nsv913953CNV Loss21882294
    nsv913952CNV Loss21882294
    nsv913943CNV Loss21882294
    esv33817CNV Loss17666407
    nsv913948CNV Loss21882294
    nsv913946CNV Gain21882294
    nsv913950CNV Gain21882294

    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
    2 diseases for KRTAP10-7:    About MalaCards
    fraser syndrome    


    KRTAP10-7 for disorders           About GeneDecksing


    Export disorders for KRTAP10-7 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 KRTAP10-7 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KRTAP10-7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hair keratin associated proteins: characterization of a second high sulfur KAP gene domain on human chromosome 21. (PubMed id 14962103)1, 2 Rogers M.A....Schweizer J. (2004)
    2. A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. (PubMed id 15028290)1, 2 Shibuya K....Shimizu N. (2004)
    3. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
    4. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    5. The diploid genome sequence of an individual human. (PubMed id 17803354)1 Levy S....Venter J.C. (2007)
    6. 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)
    7. 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 Rogers M.A....Schweizer J. (2002)
    8. 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: 386675 HGNC: 22970 AceView: KRTAP10-7 Ensembl:ENSG00000205441 euGenes: HUgn386675
    ECgene: KRTAP10-7 H-InvDB: KRTAP10-7

    (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 KRTAP10-7 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 KRTAP10-7 gene:
    Search GeneIP for patents involving KRTAP10-7

    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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    (GIFtS: 73)
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