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

KRTAP3-3 Gene

protein-coding   GIFtS: 38
GCID: GC17M039149

keratin associated protein 3-3

  Search for KRTAP3-3
in our new
 Human Malady Compendium 
Biological research products
for KRTAP3-3
    

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

Aliases
Keratin Associated Protein 3-31 2
KAP3.31 2 3
High Sulfur Keratin-Associated Protein 3.32 3
Keratin-Associated Protein 3.32 3
KRTAP3.32 3
Keratin-Associated Protein 3-32

External Ids:    HGNC: 188901   Entrez Gene: 852932   Ensembl: ENSG000002128997   UniProtKB: Q9BYR63   

Export aliases for KRTAP3-3 gene to outside databases

Previous GC identifers: GC17M038649 GC17M041325 GC17M039058 GC17M039522 GC17P9W0134 GC17M036404 GC17M034944


(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 KRTAP3-3:
This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin
intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique,
family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to
amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a
member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. (provided by RefSeq,
Jul 2008)

UniProtKB/Swiss-Prot: KRA33_HUMAN, Q9BYR6
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 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 KRTAP3-3 gene promoter:
         TBP   FOXF2   Nkx2-2   IRF-1   LCR-F1   FOXL1   HEN1   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRTAP3-3 promoter sequence
   Search SABiosciences Chromatin IP Primers for KRTAP3-3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP3-3


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

KRTAP3-3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP3-3 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M039149:  view genomic region     (about GC identifiers)

Start:
39,149,682 bp from pter      End:
39,150,385 bp from pter
Size:
704 bases      Orientation:
minus strand

(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: KRA33_HUMAN, Q9BYR6 (See protein sequence)
Recommended Name: Keratin-associated protein 3-3  
Size: 98 amino acids; 10365 Da
Subunit: Interacts with hair keratins
Secondary accessions: Q52LP0 Q6NTD4

Explore the universe of human proteins at neXtProt for KRTAP3-3: NX_Q9BYR6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BYR6

  • KRTAP3-3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_149441.1  
    ENSEMBL proteins: 
     ENSP00000375428  

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    Uscn Proteins for KRTAP3-3

    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--


    KRTAP3-3 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

    KRTAP3-3 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007659 Keratin_matx

    Graphical View of Domain Structure for InterPro Entry Q9BYR6

    ProtoNet protein and cluster: Q9BYR6

    1 Blocks protein family: IPB007659 Keratin

    UniProtKB/Swiss-Prot: KRA33_HUMAN, Q9BYR6
    Similarity: Belongs to the KRTAP type 3 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

    Function Summary:

         UniProtKB/Swiss-Prot: KRA33_HUMAN, Q9BYR6
    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

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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:0005198structural molecule activity IEA--


    KRTAP3-3 for ontologies           About GeneDecksing



    (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 KRTAP3-3

    (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
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    Browse Tocris compounds for KRTAP3-3
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    (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,
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    About This Section

    REFSEQ mRNAs for KRTAP3-3 gene: 
    NM_033185.2  

    Unigene Cluster for KRTAP3-3:

    Keratin associated protein 3-3
    Hs.662759  [show with all ESTs]
    Unigene Representative Sequence: AJ406933
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000391586(uc002hvr.1)

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    Additional cDNA sequence: 

    AJ406933.1 BC069099.1 BC069448.1 BC093845.1 BC093847.1 

    1 DOTS entry:

    DT.40315748 

    5 AceView cDNA sequences:

    NM_033185 BC069448 AA463659 BC069099 AJ406933 

    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

    KRTAP3-3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image
    See KRTAP3-3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KRTAP3-3

    SOURCE GeneReport for Unigene cluster: Hs.662759

    UniProtKB/Swiss-Prot: KRA33_HUMAN, Q9BYR6
    Tissue specificity: Localized to the upper cortex of the hair shaft

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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)
    About This Section
      --

    ENSEMBL Gene Tree for KRTAP3-3 (if available)
    TreeFam Gene Tree for KRTAP3-3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRTAP3-3 gene
    KRTAP3-22  KRTAP3-12  
    2 SIMAP similar genes for KRTAP3-3 using alignment to 1 protein entry:     KRA33_HUMAN:
    KRTAP3-2    KRTAP3-1

    KRTAP3-3 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

    10/96 NCBI SNPs in KRTAP3-3 are shown (see all 96    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs176472851,2
    C,F,--39149279(+) AAAACA/GCAGGA 1 -- ds50014Minor allele frequency- G:0.01NA 142
    rs1399858231,2
    --39149283(+) CACAGC/GACACA 1 -- ds50010--------
    rs1125226881,2
    C,--39149372(+) GATTAG/CTTTAT 1 -- ds50011Minor allele frequency- C:0.50NA 2
    rs1122498601,2
    --39149412(+) TGTTCG/AGTATT 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1391530691,2
    --39149449(+) GGGAGA/GACAAG 1 -- ds50010--------
    rs1885803811,2
    --39149483(+) ATGCCA/GATGTA 1 -- ds50010--------
    rs178430121,2
    C,F,--39149503(+) CTTACA/GTGCAA 1 -- ds50013Minor allele frequency- G:0.02NA 142
    rs1929773601,2
    --39149566(+) TCCATA/CCTGCC 1 -- ds50010--------
    rs1851240861,2
    --39149590(+) TCACTA/GATGTT 1 -- ds50010--------
    rs113260661,2
    C,--39149633(+) TTAAG-/AAACGC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for KRTAP3-3 (39149682 - 39150385 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for KRTAP3-3
         1 CNV: 43948

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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
      --

    (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 KRTAP3-3 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KRTAP3-3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a cluster of human high/ultrahigh sulfur keratin- associated protein genes embedded in the type I keratin gene domain on chromosome 17q12-21. (PubMed id 11279113)1, 2, 3 Rogers M.A....Schweizer J. (2001)
    2. 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. (2004)
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    4. 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: 85293 HGNC: 18890 AceView: KRTAP3-3.1 Ensembl:ENSG00000212899 euGenes: HUgn85293
    ECgene: KRTAP3-3 H-InvDB: KRTAP3-3

    (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 KRTAP3-3 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 KRTAP3-3 gene:
    Search GeneIP for patents involving KRTAP3-3

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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