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KRTAP4-6 Gene

protein-coding   GIFtS: 34
GCID: GC17M039295

Keratin Associated Protein 4-6

(Previous name: keratin associated protein 4-15)
(Previous symbol: KRTAP4-15)
  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)
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Aliases
Keratin Associated Protein 4-61 2     KRTAP4.152 3
KRTAP4-151 2 3     KAP4.62
Keratin Associated Protein 4-151 2     Keratin-Associated Protein 4-62
Keratin-Associated Protein 4.62 3     KRTAP4.63
Ultrahigh Sulfur Keratin-Associated Protein 4.152 3     Keratin-Associated Protein 4-153
KAP4.152 3     Keratin-Associated Protein 4.153

External Ids:    HGNC: 189091   Entrez Gene: 818712   Ensembl: ENSG000001980907   UniProtKB: Q9BYQ53   

Export aliases for KRTAP4-6 gene to outside databases

Previous GC identifers: GC17U990273 GC17M036550 GC17M035070


(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 KRTAP4-6 Gene:
KRTAP4-6 (keratin associated protein 4-6) is a protein-coding gene. Diseases associated with KRTAP4-6 include fraser syndrome. An important paralog of this gene is KRTAP9-3.

UniProtKB/Swiss-Prot: KRA46_HUMAN, Q9BYQ5
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_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Search for regulatory transcription factor binding sites for KRTAP4-6
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KRTAP4-6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRTAP4-6


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

KRTAP4-6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP4-6 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M039295:  view genomic region     (about GC identifiers)

Start:
39,295,685 bp from pter      End:
39,296,739 bp from pter
Size:
1,055 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for KRTAP4-6

(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: KRA46_HUMAN, Q9BYQ5 (See protein sequence)
Recommended Name: Keratin-associated protein 4-6  
Size: 201 amino acids; 21435 Da
Subunit: Interacts with hair keratins
Miscellaneous: Allele shown is KAP4.15
Sequence caution: Sequence=CAC27577.1; Type=Erroneous translation; Note=Wrong choice of frame;
Secondary accessions: Q9BYR1

Explore the universe of human proteins at neXtProt for KRTAP4-6: NX_Q9BYQ5

Explore proteomics data for KRTAP4-6 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KRTAP4-6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_112238.1  
    ENSEMBL proteins: 
     ENSP00000328270  

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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:
     IPR002494 Keratin-assoc

    Graphical View of Domain Structure for InterPro Entry Q9BYQ5

    ProtoNet protein and cluster: Q9BYQ5

    UniProtKB/Swiss-Prot: KRA46_HUMAN, Q9BYQ5
    Similarity: Belongs to the KRTAP type 4 family


    KRTAP4-6 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: KRA46_HUMAN, Q9BYQ5
    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
    extracellular3
    cytoskeleton2
    cytosol1
    nucleus1

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

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

    KRTAP4-6 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 KRTAP4-6
    Interactions:

        Search GeneGlobe Interaction Network for KRTAP4-6

    (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 KRTAP4-6 (KRA46)



    (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 KRTAP4-6 gene: 
    NM_030976.1  

    Unigene Cluster for KRTAP4-6:

    Keratin associated protein 4-6
    Hs.307014
    Unigene Representative Sequence: NM_030976
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000345847(uc010cxk.2)
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    Additional mRNA sequence: 

    AJ406938.1 AJ406945.1 

    1 DOTS entry:

    DT.91665614 

    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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    KRTAP4-6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KRTAP4-6 Expression
    About this image

    KRTAP4-6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRTAP4-6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.307014

    UniProtKB/Swiss-Prot: KRA46_HUMAN, Q9BYQ5
    Tissue specificity: Expressed in the hair follicles

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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 KRTAP4-6 gene from Selected species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm115635 predicted gene 11563   --   11 (63.00 cM) 99657949 


    ENSEMBL Gene Tree for KRTAP4-6 (if available)
    TreeFam Gene Tree for KRTAP4-6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KRTAP4-6 gene
    KRTAP9-32  KRTAP4-42  KRTAP9-12  KRTAP9-62  KRTAP4-72  KRTAP4-52  KRTAP4-22  KRTAP9-42  
    KRTAP4-12  KRTAP9-72  KRTAP4-92  KRTAP4-122  KRTAP9-92  KRTAP4-82  KRTAP9-22  KRTAP4-16P2  
    KRTAP9-82  KRTAP4-32  KRTAP4-112  
    10 SIMAP similar genes for KRTAP4-6 using alignment to 1 protein entry:     KRA46_HUMAN:
    KRTAP4-12    KRTAP4-7    KRTAP4-11    KRTAP4-9    KRTAP4-5    KRTAP4-2
    KRTAP4-8    KRTAP4-3    KRTAP4-4    KRTAP4-16P

    KRTAP4-6 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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    KRA46_HUMAN, Q9BYQ5: Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in
    the sequence encoding cysteine-rich repeat segments


    Selected SNPs for KRTAP4-6 (see all 114)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs793761151,2
    C,F--39295224(+) TAATGG/AATGGA 1 -- int11Minor allele frequency- A:0.06WA 118
    rs1479423891,2
    --39295243(+) TAAAGA/CAGCTG 1 -- int10--------
    rs99107501,2
    C,F--39295258(+) TGTGAT/AAAATT 1 -- int12Minor allele frequency- A:0.14WA 120
    rs9040971,2
    C,F,H--39295283(-) GGTTTA/TTCCAT 1 -- int112Minor allele frequency- T:0.12NA EA NS WA 788
    rs1824322901,2
    --39295358(+) GGATCA/GGGGGC 1 -- int10--------
    rs1456696151,2
    --39295363(+) GGGGGC/TCATGG 1 -- int10--------
    rs99025611,2
    C,F,A,H--39295384(+) GAAACG/AGAAAA 1 -- int111Minor allele frequency- A:0.43NA WA CSA EA 377
    rs1871368211,2
    --39295410(+) GAGGAA/GTGAGA 1 -- int10--------
    rs3698203091,2
    C--39295462(+) TAGCTG/TTGGGA 1 -- int10--------
    rs2020485481,2
    --39295551(+) TTGCC-/TTTTTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for KRTAP4-6 (39295685 - 39296739 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for KRTAP4-6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715916CNV Deletion23290073
    nsv908232CNV Loss21882294
    nsv833446CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
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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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    1 disease for KRTAP4-6:    
    About MalaCards
    fraser syndrome


    KRTAP4-6 for disorders           About GeneDecksing


    Export disorders for KRTAP4-6 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 KRTAP4-6 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with KRTAP4-6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Size polymorphisms in the human ultrahigh sulfur hair keratin- associated protein 4, KAP4, gene family. (PubMed id 15955084)1, 2 Kariya N.... Ito M. (J. Invest. Dermatol. 2005)
    2. 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 Rogers M.A....Schweizer J. (J. Biol. Chem. 2001)
    3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 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: 81871 HGNC: 18909 Ensembl:ENSG00000198090 euGenes: HUgn81871 ECgene: KRTAP4-6
    H-InvDB: KRTAP4-6

    (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 KRTAP4-6 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 KRTAP4-6 gene:
    Search GeneIP for patents involving KRTAP4-6

    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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