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

KRTAP5-5 Gene

protein-coding   GIFtS: 33
GCID: GC11P001609

keratin associated protein 5-5

  Search for KRTAP5-5
in our new
 Human Malady Compendium 
Biological research products
for KRTAP5-5
    

(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 5-51 2     Ultrahigh Sulfur Keratin-Associated Protein 5.52 3
KRTAP5-111 2 3     Keratin Associated Protein 5-112
KRTAP5.51 2 3     Keratin-Associated Protein 5-52
Keratin-Associated Protein 5-112 3     KAP5-113
Keratin-Associated Protein 5.112 3     KAP5.53
Keratin-Associated Protein 5.52 3     KRTAP5.113

External Ids:    HGNC: 236011   Entrez Gene: 4399152   Ensembl: ENSG000001859407   UniProtKB: Q701N23   

Export aliases for KRTAP5-5 gene to outside databases

Previous GC identifers: GC00U913942 GC11P001444


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

UniProtKB/Swiss-Prot: KRA55_HUMAN, Q701N2
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRTAP5-5 gene promoter:
         FOXC1   FOXF2   HFH-1   FOXJ2 (long isoform)   FOXD1   AP-4   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRTAP5-5 promoter sequence
   Search SABiosciences Chromatin IP Primers for KRTAP5-5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP5-5


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

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

KRTAP5-5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP5-5 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P001609:  view genomic region     (about GC identifiers)

Start:
1,651,033 bp from pter      End:
1,652,160 bp from pter
Size:
1,128 bases      Orientation:
plus 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: KRA55_HUMAN, Q701N2 (See protein sequence)
Recommended Name: Keratin-associated protein 5-5  
Size: 237 amino acids; 21409 Da
Subunit: Interacts with hair keratins
Secondary accessions: A8MWN2

Explore the universe of human proteins at neXtProt for KRTAP5-5: NX_Q701N2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q701N2

  • KRTAP5-5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001001480.2  
    ENSEMBL proteins: 
     ENSP00000382584  

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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--


    KRTAP5-5 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

    KRTAP5-5 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002494 Keratin-assoc

    Graphical View of Domain Structure for InterPro Entry Q701N2

    ProtoNet protein and cluster: Q701N2

    1 Blocks protein family: IPB001007 von Willebrand factor

    UniProtKB/Swiss-Prot: KRA55_HUMAN, Q701N2
    Similarity: Belongs to the KRTAP type 5 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: KRA55_HUMAN, Q701N2
    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

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    (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 KRTAP5-5

    (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
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for KRTAP5-5
    Search CenterWatch for drugs/clinical trials and news about KRTAP5-5 / KRA55 

    (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 KRTAP5-5 gene: 
    NM_001001480.2  

    Unigene Cluster for KRTAP5-5:

    Keratin associated protein 5-5
    Hs.653467  [show with all ESTs]
    Unigene Representative Sequence: NM_001001480
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000399676(uc001lty.3)

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    Additional cDNA sequence: AB126074.1 

    2 DOTS entries:

    DT.102930  DT.102820158 

    2 AceView cDNA sequences:

    W73092 W73243 

    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

    KRTAP5-5 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 KRTAP5-5 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.653467

    UniProtKB/Swiss-Prot: KRA55_HUMAN, Q701N2
    Tissue specificity: Restricted to hair root, not detected in any other tissues

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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for KRTAP5-5

    (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 eukaryotes.

    Orthologs for KRTAP5-5 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01056821.26
    --
    20(a)
    1 → many
    23(41563198-41563920)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG341676
    --
    31(a)
    1 → many
    2L(16002981-16003641)
    worm
    (Caenorhabditis elegans)
    Secernentea C06A1.66
    C04G6.106
    (see all 8)
    --
    26(a)
    26(a)
    (see all 8)
    many ↔ many
    many ↔ many
    (see all 8)
    II(10564115-10564618)
    II(5101976-5102638)
    rice
    (Oryza sativa)
    Liliopsida --
    keratin-associated protein 5-4, putative, expresse...
    19(a)
    1 → many
    9(16410150-16414861)


    ENSEMBL Gene Tree for KRTAP5-5 (if available)
    TreeFam Gene Tree for KRTAP5-5 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRTAP5-5 gene
    KRTAP5-31 2  KRTAP4-42  KRTAP10-22  KRTAP9-32  KRTAP10-112  KRTAP5-102  KRTAP9-62  KRTAP4-72  
    KRTAP1-12  KRTAP10-12  KRTAP5-42  KRTAP1-42  KRTAP9-72  KRTAP4-12  KRTAP4-122  KRTAP10-32  
    KRTAP9-92  KRTAP10-122  KRTAP5-22  KRTAP2-22  KRTAP12-32  KRTAP5-72  KRTAP10-102  KRTAP10-82  
    KRTAP16-12  KRTAP9-22  KRTAP12-42  KRTAP5-12  KRTAP4-16P2  KRTAP1-52  KRTAP4-112  KRTAP2-42  
    KRTAP10-62  KRTAP9-12  KRTAP1-32  KRTAP10-72  KRTAP4-52  KRTAP2-12  KRTAP4-22  KRTAP9-42  
    KRTAP4-92  KRTAP5-62  KRTAP12-22  KRTAP29-12  KRTAP5-112  KRTAP10-92  KRTAP5-92  KRTAP4-82  
    KRTAP10-52  KRTAP12-12  KRTAP5-82  KRTAP2-32  KRTAP9-82  KRTAP4-62  KRTAP10-42  KRTAP4-32  

    KRTAP5-5 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

    10/120 NCBI SNPs in KRTAP5-5 are shown (see all 120    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs757189691,2
    C,F,--1442125(+) AGTTCC/TTAATG 1 -- us2k11Minor allele frequency- T:0.02NA 120
    rs1118535031,2
    C,--1442304(+) TGGGGT/AGCCCC 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs358321891,2
    C--1442665(+) CAGGCA/GCTGGA 1 -- us2k10--------
    rs618675791,2
    --1442868(+) ACAGTC/TCCCTG 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs10213421,2
    C,F,A,H,--1443284(-) GGGTCA/GGGACC 1 -- us2k118Minor allele frequency- G:0.09NS EA NA WA CSA 1887
    rs1121815901,2
    --1443615(+) CAGCCC/TGCGGG 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs740492611,2
    C,--1443743(+) CCTCGG/ACAAGA 1 -- us2k12Minor allele frequency- A:0.04WA 120
    rs1888859721,2
    --1649108(+) AAAGTC/TTACAA 1 -- us2k10--------
    rs1907867461,2
    --1649184(+) AAATGA/GCTAGA 1 -- us2k10--------
    rs1393538111,2
    --1649194(+) ACAGGA/CGCATA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KRTAP5-5 (1651033 - 1652160 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for KRTAP5-5: --

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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 KRTAP5-5 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KRTAP5-5)
        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. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (2006)

    (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: 439915 HGNC: 23601 AceView: LOC439915 Ensembl:ENSG00000185940 euGenes: HUgn439915
    ECgene: KRTAP5-5 H-InvDB: KRTAP5-5

    (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 KRTAP5-5 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 KRTAP5-5 gene:
    Search GeneIP for patents involving KRTAP5-5

    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),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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     Regulatory tfbs in KRTAP5-5 promoter
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     KRTAP5-5 Proteins, Antibodies, CLIAs, and ELISAs
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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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