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

KRTAP13-1 Gene

protein-coding   GIFtS: 40
GCID: GC21P031768

keratin associated protein 13-1
  Search for KRTAP13-1
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KRTAP13-1    

Aliases
for KRTAP13-1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Keratin Associated Protein 13-11 2
KAP13.11 2 3
High Sulfur Keratin-Associated Protein 13.12 3
KRTAP13.12 3
High Sulfur Keratin Associated Protein 13.12
Keratin-Associated Protein 13-12

External Ids:    HGNC: 189241   Entrez Gene: 1402582   Ensembl: ENSG000001983907   OMIM: 6087185   UniProtKB: Q8IUC03   
ORGUL members:         
NONCODE:n339460    

Export aliases for KRTAP13-1 gene to outside databases

Previous GC identifers: GC21P028428 GC21P030688 GC21P030690 GC21P017177


Summaries
for KRTAP13-1 gene

(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 KRTAP13-1:
Hair keratins and hair keratin-associated proteins (KAPs), such as KRTAP13-1, are the main structural proteins of hair
fibers (Rogers et al., 2002 (PubMed 12359730)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: KR131_HUMAN, Q8IUC0
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




Genomic Views
for KRTAP13-1 gene

(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_000021.8  NC_018932.1  NT_011512.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRTAP13-1 gene promoter:
         TBP   MyoD   Lmo2   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   MEF-2A   c-Myb   aMEF-2   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KRTAP13-1 promoter sequence
   Search SABiosciences Chromatin IP Primers for KRTAP13-1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP13-1


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

Entrez Gene cytogenetic band: 21q22.1   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22.1

KRTAP13-1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP13-1 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21P031768:  view genomic region     (about GC identifiers)

Start:
 31,768,392 bp from pter      End:
 31,769,140 bp from pter
Size:
 749 bases      Orientation:
 plus strand

Proteins
for KRTAP13-1 gene

(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: KR131_HUMAN, Q8IUC0 (See protein sequence)
Recommended Name: Keratin-associated protein 13-1  
Size: 172 amino acids; 18320 Da
Subunit: Interacts with hair keratins
Caution: The sequence of 1-41 of PubMed:12359730 has not been submitted
Sequence caution: Sequence=AAI13537.1; Type=Erroneous initiation; Sequence=AAI13539.1; Type=Erroneous initiation;
Secondary accessions: Q14D20 Q3LI79

Explore the universe of human proteins at neXtProt for KRTAP13-1: NX_Q8IUC0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IUC0

    • KRTAP13-1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_853630.2  
    ENSEMBL proteins: 
     ENSP00000347635  

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    Uscn Proteins for KRTAP13-1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005882intermediate filament IEA--


    KRTAP13-1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for KRTAP13-1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KRTAP13-1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007951 PMG

    Graphical View of Domain Structure for InterPro Entry Q8IUC0

    ProtoNet protein and cluster: Q8IUC0

    UniProtKB/Swiss-Prot: KR131_HUMAN, Q8IUC0
    Similarity: Belongs to the PMG family


    Function
    for KRTAP13-1 gene

    (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: KR131_HUMAN, Q8IUC0
    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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    Pathways & Interactions
    for KRTAP13-1 gene

    (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 KRTAP13-1

    Drugs & Compounds
    for KRTAP13-1 gene

    (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 KRTAP13-1
    Search CenterWatch for drugs/clinical trials and news about KRTAP13-1 / KR131 

    Transcripts
    for KRTAP13-1 gene

    (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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for KRTAP13-1 gene: 
    NM_181599.2  

    Unigene Cluster for KRTAP13-1:

    Keratin associated protein 13-1
    Hs.407653
    Unigene Representative Sequence: NM_181599
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000355459(uc002yoa.3)

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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AB096939.1 AJ457066.1 BC113536.1 BC113538.1 

    1 DOTS entry:

    DT.100014148 

    2 AceView cDNA sequences:

    NM_181599 AJ457066 

    GeneLoc Exon Structure


    Expression
    for KRTAP13-1 gene

    (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

    KRTAP13-1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACAGAAAGA

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

    KRTAP13-1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbStylopodMesenchymal Condensate CellsBone, Cartilage
    LimbStylopod Synovial JointInterzone CellsCartilage
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    BoneZeugopod Long BoneBone
    LimbAutopodLimb
    LimbStylopodLimb
    LimbStylopod Synovial JointLimb
    LimbZeugopodLimb
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See KRTAP13-1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KRTAP13-1

    SOURCE GeneReport for Unigene cluster: Hs.407653

    UniProtKB/Swiss-Prot: KR131_HUMAN, Q8IUC0
    Tissue specificity: Weak expression seen in the late matrix and entire cortex area of the hair follicle

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    In Situ
    Assay Products:     
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for KRTAP13-1

    Orthologs
    for KRTAP13-1 gene

    (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 KRTAP13-1 (if available)
    TreeFam Gene Tree for KRTAP13-1 (if available) 

    Paralogs
    for KRTAP13-1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRTAP13-1 gene
    KRTAP13-22  KRTAP13-42  KRTAP13-32  KRTAP15-12  
    4 SIMAP similar genes for KRTAP13-1 using alignment to 1 protein entry:     KR131_HUMAN:
    KRTAP13-2    KRTAP13-3    KRTAP13-4    KRTAP15-1

    KRTAP13-1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for KRTAP13-1
    PGOHUM00000239063


    Genomic Variants
    for KRTAP13-1 gene

    (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

    10/71 NCBI SNPs in KRTAP13-1 are shown (see all 71)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 21 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1477474481,2
    		--31766449(+) ATCCGA/GAGAGC 1 -- us2k10--------
    rs1424888841,2
    		--31766486(+) GTCCCC/TAGGGT 1 -- us2k10--------
    rs1433655921,2
    		--31766693(+) GCTAAG/TTTTTT 1 -- us2k10--------
    rs1511664541,2
    		--31766710(+) TTAGTA/GAAGAC 1 -- us2k10--------
    rs1832890291,2
    		--31766737(+) AGCCAA/GGATGG 1 -- us2k10--------
    rs1882881271,2
    		--31766746(+) GGTCTC/TTATCT 1 -- us2k10--------
    rs1911326231,2
    		--31766771(+) CCGCCC/TGCCTC 1 -- us2k10--------
    rs99766991,2
    		C,--31766821(+) cccccG/CgccCA 1 -- us2k12Minor allele frequency- C:0.15WA 120
    rs1829768221,2
    		--31766983(+) GACAAA/GAGGCG 1 -- us2k10--------
    rs10040441,2
    		C,F,O,A,H,--31766987(+) AGAGGT/CGCACA 1 -- us2k130Minor allele frequency- C:0.27NS EA NA WA CSA 2739

    HapMap Linkage Disequilibrium report for KRTAP13-1 (31768392 - 31769140 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for KRTAP13-1: --

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    Disorders / Diseases
    for KRTAP13-1 gene

    (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
    KRTAP13-1 for disorders           About MalaCards

    KRTAP13-1 for disorders           About GeneDecksing

    OMIM gene information: 608718    OMIM disorders: --


    Export disorders for KRTAP13-1 gene to outside databases

    Publications
    for KRTAP13-1 gene

    (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 KRTAP13-1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KRTAP13-1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a first domain of human high glycine-tyrosine and high sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1. (PubMed id 12359730)1, 2, 3 Rogers M.A....Schweizer J. (2002)
    2. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    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)

    External Searches for KRTAP13-1 gene

    (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)

    Genome Databases showing KRTAP13-1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 140258 HGNC: 18924 AceView: KRTAP13-1 Ensembl:ENSG00000198390 euGenes: HUgn140258
    ECgene: KRTAP13-1 H-InvDB: KRTAP13-1

    Other Databases showing KRTAP13-1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing KRTAP13-1 gene

    (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 KRTAP13-1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for KRTAP13-1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for KRTAP13-1 gene:
    Search GeneIP for patents involving KRTAP13-1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for KRTAP13-1 gene

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    About This Section

     
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