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

KRTAP9-1 Gene

protein-coding   GIFtS: 28
GCID: GC17P039344          (predicted)

Keratin Associated Protein 9-1

(Previous name: keratin associated protein 9-like 3)
(Previous symbol: KRTAP9L3)
  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 9-11 2     Keratin-Associated Protein 9-12
KRTAP9L31 2     Putative Keratin-Associated Protein 9-2-Like 32
Keratin Associated Protein 9-Like 31 2     KRTAP9.13
KAP9.12 3     

External Ids:    HGNC: 189121   Entrez Gene: 7283182   Ensembl: ENSG000002405427   UniProtKB: A8MXZ33   

Export aliases for KRTAP9-1 gene to outside databases

Previous GC identifers: GC17U900021 GC17P036598 GC17P039346 GC17P035121


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

GeneCards Summary for KRTAP9-1 Gene: 
KRTAP9-1 (keratin associated protein 9-1) is a protein-coding gene. Diseases associated with KRTAP9-1 include fraser syndrome. An important paralog of this gene is KRTAP9-3.

UniProtKB/Swiss-Prot: KRA91_HUMAN, A8MXZ3
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 (By similarity)




(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_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for KRTAP9-1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KRTAP9-1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP9-1


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

KRTAP9-1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP9-1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P039344:  view genomic region     (about GC identifiers)

Start:
39,344,697 bp from pter      End:
39,346,891 bp from pter
Size:
2,195 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: KRA91_HUMAN, A8MXZ3 (See protein sequence)
Recommended Name: Keratin-associated protein 9-1  
Size: 250 amino acids; 26333 Da
Subunit: Interacts with hair keratins (By similarity)

Explore the universe of human proteins at neXtProt for KRTAP9-1: NX_A8MXZ3

Explore proteomics data for KRTAP9-1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A8MXZ3

  • KRTAP9-1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KRTAP9-1 Protein Expression
    REFSEQ proteins: NP_001177389.1  
    ENSEMBL proteins: 
     ENSP00000381488   ENSP00000366952   ENSP00000325023  

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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--

    KRTAP9-1 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 A8MXZ3

    ProtoNet protein and cluster: A8MXZ3

    UniProtKB/Swiss-Prot: KRA91_HUMAN, A8MXZ3
    Similarity: Belongs to the KRTAP type 9 family


    KRTAP9-1 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: KRA91_HUMAN, A8MXZ3
    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 (By similarity)

    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 KRTAP9-1

    (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
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    Browse Tocris compounds for KRTAP9-1 (KRA91)

    Search CenterWatch for drugs/clinical trials and news about KRTAP9-1 / KRA91

    (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 KRTAP9-1 gene: 
    NM_001190460.1  

    Unigene Cluster for KRTAP9-1:

    Keratin associated protein 9-1
    Hs.727478
    Unigene Representative Sequence: NM_001190460
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000398470(uc021txf.1) ENST00000377723 ENST00000318329
    miRNA
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    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

    KRTAP9-1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KRTAP9-1 Expression
    About this image


    See KRTAP9-1 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.727478
        SABiosciences Custom PCR Arrays for KRTAP9-1
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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

    This gene was present in the common ancestor of animals.

    Orthologs for KRTAP9-1 gene from 3/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krtap9-51 , 5 keratin associated protein 9-51, 5 68.76(n)1
    60.25(a)1
      11 (63.29 cM)5
    4352861  NM_001085527.11  NP_001078996.11 
     999484755 
    zebrafish
    (Danio rerio)
    Actinopterygii --
    CABZ01056821.26
    Uncharacterized protein
    22(a)
    15(a)
    many ↔ many
    many ↔ many
    23(41555122-41555796)
    23(41563198-41563920)
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0065241 AGAP006524-PA 50.15(n)
    43.36(a)
      1277121  XM_316557.4  XP_316557.4 


    ENSEMBL Gene Tree for KRTAP9-1 (if available)
    TreeFam Gene Tree for KRTAP9-1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRTAP9-1 gene
    KRTAP9-32  KRTAP4-42  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  
    KRTAP4-62  KRTAP4-112  KRTAP4-32  
    10 SIMAP similar genes for KRTAP9-1 using alignment to 3 protein entries:     KRA91_HUMAN (see all proteins):
    KRTAP9-2    KRTAP9-7    KRTAP9-9    KRTAP9-3    KRTAP9-4    KRTAP9-8
    KRTAP4-16P    KRTAP4-2    KRTAP4-1    KRTAP12-4

    KRTAP9-1 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

    10/99 SNPs in KRTAP9-1 are shown (see all 99)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1892271411,2
    --35119163(+) CATCTC/TTACTA 1 -- us2k10--------
    rs1923200271,2
    --35119263(+) GAAGCA/GGGGGT 1 -- us2k10--------
    rs2388251,2
    F--35119265(-) caaccA/Cccgct 1 -- us2k10--------
    rs1178562001,2
    C,F--35119322(+) TAAGAC/TTCTAT 1 -- us2k11Minor allele frequency- T:0.07NA 120
    rs1834732861,2
    --35119375(+) ATTCAA/GTAATC 1 -- us2k10--------
    rs1495286651,2
    --35119395(+) TTCCCA/GCTATG 1 -- us2k10--------
    rs1460235171,2
    --35119409(+) CAAACC/TCATTC 1 -- us2k10--------
    rs1882071801,2
    --35119499(+) ACCAGA/GTCATT 1 -- us2k10--------
    rs1810869691,2
    --35119680(+) AGTGAA/GAATAA 1 -- us2k10--------
    rs1840873751,2
    --35119684(+) AAAATA/TAGAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KRTAP9-1 (39344697 - 39346891 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for KRTAP9-1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv908232CNV Loss21882294
    nsv833446CNV Gain17160897
    dgv961e1CNV Complex17122850

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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 KRTAP9-1:    About MalaCards
    fraser syndrome    


    KRTAP9-1 for disorders           About GeneDecksing


    Export disorders for KRTAP9-1 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 KRTAP9-1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KRTAP9-1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)1, 2 Zody M.C.... Nusbaum C. (2006)
    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 Rogers M.A....Schweizer J. (2001)

    (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: 728318 HGNC: 18912 Ensembl:ENSG00000240542 euGenes: HUgn728318 ECgene: KRTAP9-1
    H-InvDB: KRTAP9-1

    (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 KRTAP9-1 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 KRTAP9-1 gene:
    Search GeneIP for patents involving KRTAP9-1

    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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    transforming growth factor, beta 1
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