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

KRTAP16-1 Gene

protein-coding   GIFtS: 30
GCID: GC17M039463          (predicted)

Keratin Associated Protein 16-1

  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 16-11 2
KAP16.12 3
Keratin-Associated Protein 16-12
Putative Keratin-Associated Protein 10-Like ENSP000003751472

External Ids:    HGNC: 189161   Entrez Gene: 1005057532   Ensembl: ENSG000002126577   UniProtKB: A8MUX03   

Export aliases for KRTAP16-1 gene to outside databases

Previous GC identifers: GC17U900020 GC17M039372 GC17M039837 GC17M036719


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

GeneCards Summary for KRTAP16-1 Gene: 
KRTAP16-1 (keratin associated protein 16-1) is a protein-coding gene. Diseases associated with KRTAP16-1 include fraser syndrome. An important paralog of this gene is KRTAP10-6.


(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 KRTAP16-1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KRTAP16-1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP16-1


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

KRTAP16-1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP16-1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M039463:  view genomic region     (about GC identifiers)

Start:
39,463,952 bp from pter      End:
39,465,505 bp from pter
Size:
1,554 bases      Orientation:
minus strand

1 alternative location:
Chr17+,NW_003315953 131,008-132,561     

(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: KR161_HUMAN, A8MUX0 (See protein sequence)
Recommended Name: Keratin-associated protein 16-1  
Size: 517 amino acids; 53912 Da

Explore the universe of human proteins at neXtProt for KRTAP16-1: NX_A8MUX0

Explore proteomics data for KRTAP16-1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A8MUX0

  • KRTAP16-1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KRTAP16-1 Protein Expression
    REFSEQ proteins: NP_001139654.1  
    ENSEMBL proteins: 
     ENSP00000375147  

    Human Recombinant Protein Products for KRTAP16-1: 
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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--

    KRTAP16-1 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 A8MUX0

    ProtoNet protein and cluster: A8MUX0

    UniProtKB/Swiss-Prot: KR161_HUMAN, A8MUX0
    Similarity: Belongs to the KRTAP type 16 family


    KRTAP16-1 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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KRTAP16-1 
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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 KRTAP16-1

    (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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KRTAP16-1 (KR161)

    Search CenterWatch for drugs/clinical trials and news about KRTAP16-1 / KR161

    (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,
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    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 KRTAP16-1 gene: 
    NM_001146182.1  

    Unigene Cluster for KRTAP16-1:

    Keratin associated protein 16-1
    Hs.721600
    Unigene Representative Sequence: NM_001146182
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000391352(uc021txi.1)
    miRNA
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      Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRTAP16-1

    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

    KRTAP16-1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGTTGCTGTG
    KRTAP16-1 Expression
    About this image


    See KRTAP16-1 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.721600
        SABiosciences Custom PCR Arrays for KRTAP16-1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRTAP16-1

    (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 chordates.

    Orthologs for KRTAP16-1 gene from 2/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krtap16-15
    Gm115701
    predicted gene 115701, 5 80.16(n)1
    76.28(a)1
      11 (63.33 cM)5
    1005041831  NM_001256057.11  NP_001242986.11 
     999847105 
    chicken
    (Gallus gallus)
    Aves PRR96
    Uncharacterized protein
    13(a)
    1 ↔ 1
    25(1112688-1120338)


    ENSEMBL Gene Tree for KRTAP16-1 (if available)
    TreeFam Gene Tree for KRTAP16-1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRTAP16-1 gene
    KRTAP10-62  KRTAP10-22  KRTAP10-112  KRTAP10-52  KRTAP10-92  KRTAP10-72  KRTAP10-102  KRTAP10-12  
    KRTAP10-82  KRTAP10-32  KRTAP10-42  KRTAP10-122  KRTAP29-12  
    8 SIMAP similar genes for KRTAP16-1 using alignment to 1 protein entry:     KR161_HUMAN:
    KRTAP4-1    KRTAP4-7    KRTAP10-1    KRTAP10-5    KRTAP12-2    KRTAP4-9
    KRTAP9-4    KRTAP10-11

    KRTAP16-1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for KRTAP16-1
    PGOHUM00000237390


    (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

    10/120 SNPs in KRTAP16-1 are shown (see all 120)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1164031041,2
    C,F--35231031(+) ATGCAG/TGGGGT 1 -- us2k11Minor allele frequency- T:0.08WA 118
    rs1823348981,2
    --35231032(+) TGCAGA/GGGGTG 1 -- us2k10--------
    rs1173525621,2
    F--35231033(+) GCAGGG/TGGTGG 1 -- us2k11Minor allele frequency- T:0.01EA 120
    rs1389118901,2
    --35231037(+) GGGGTA/GGATGC 1 -- us2k10--------
    rs1925706011,2
    --39463664(+) AAACTA/GCATGC 1 -- ds50010--------
    rs1161984801,2
    F--39463681(+) GAGACC/GCGAGA 1 -- ds50011Minor allele frequency- G:0.01WA 118
    rs1493484561,2
    C--39463719(+) TTAATC/TGTAGC 1 -- ds50010--------
    rs1446982921,2
    --39463720(+) TAATCA/GTAGCA 1 -- ds50010--------
    rs20742881,2
    C,F,A,H--39463730(-) TCTTGT/GCTTCT 1 -- ds500114Minor allele frequency- G:0.29NS EA NA WA CSA 767
    rs20742871,2
    C,F,O,A,H--39463819(-) CTTACC/ACCTCA 1 -- ds500116Minor allele frequency- A:0.27NA EA WA CSA 877

    HapMap Linkage Disequilibrium report for KRTAP16-1 (39463952 - 39465505 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for KRTAP16-1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv961e1CNV Complex17122850

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for KRTAP16-1

    (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 KRTAP16-1:    About MalaCards
    fraser syndrome    


    KRTAP16-1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KRTAP16-1

    Export disorders for KRTAP16-1 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 KRTAP16-1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KRTAP16-1)
        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)
    3. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)
    4. The DNA sequence of human chromosome 21. (PubMed id 10830953)1 Hattori M....Yaspo M.L. (2000)

    (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: 100505753 HGNC: 18916 Ensembl:ENSG00000212657 euGenes: HUgn100505753 ECgene: KRTAP16-1
    H-InvDB: KRTAP16-1

    (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 KRTAP16-1 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 KRTAP16-1 gene:
    Search GeneIP for patents involving KRTAP16-1

    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
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    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)
    transforming growth factor, beta 1
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