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KRTAP13-4 Gene

protein-coding   GIFtS: 33
GCID: GC21P031802

Keratin Associated Protein 13-4

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(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 13-41 2
KAP13.42 3
Keratin-Associated Protein 13-42

External Ids:    HGNC: 189261   Entrez Gene: 2848272   Ensembl: ENSG000001869717   UniProtKB: Q3LI773   

Export aliases for KRTAP13-4 gene to outside databases

Previous GC identifers: GC21P028458 GC21U900072 GC21P030723 GC21P030724 GC21P017211


(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 KRTAP13-4 Gene:
KRTAP13-4 (keratin associated protein 13-4) is a protein-coding gene. An important paralog of this gene is KRTAP13-2.

UniProtKB/Swiss-Prot: KR134_HUMAN, Q3LI77
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 at NCBI GenBank:
NC_000021.8  NC_018932.2  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRTAP13-4 gene promoter:
         Bach1   RFX1   S8   AML1a   Lmo2   Nkx2-5   HNF-3beta   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRTAP13-4 promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRTAP13-4


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

KRTAP13-4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP13-4 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21P031802:  view genomic region     (about GC identifiers)

Start:
31,802,572 bp from pter      End:
31,803,216 bp from pter
Size:
645 bases      Orientation:
plus strand

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KR134_HUMAN, Q3LI77 (See protein sequence)
Recommended Name: Keratin-associated protein 13-4  
Size: 160 amino acids; 17755 Da
Subunit: Interacts with hair keratins
Secondary accessions: A2RRL3

Explore the universe of human proteins at neXtProt for KRTAP13-4: NX_Q3LI77

Explore proteomics data for KRTAP13-4 at MOPED


See KRTAP13-4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_853631.1  
ENSEMBL proteins: 
 ENSP00000334834  

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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:
 IPR007951 KRTAP_PMG

Graphical View of Domain Structure for InterPro Entry Q3LI77

ProtoNet protein and cluster: Q3LI77

UniProtKB/Swiss-Prot: KR134_HUMAN, Q3LI77
Similarity: Belongs to the PMG family


Find genes that share domains with KRTAP13-4           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: KR134_HUMAN, Q3LI77
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
cytoskeleton3
extracellular2
cytosol1
mitochondrion1
nucleus1
peroxisome1

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

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

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(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 KRTAP13-4
Interactions:

    Search GeneGlobe Interaction Network for KRTAP13-4

(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 Tocris compounds for KRTAP13-4 (KR134)



(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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for KRTAP13-4 gene: 
NM_181600.1  

Unigene Cluster for KRTAP13-4:

Keratin associated protein 13-4
Hs.553677
Unigene Representative Sequence: AB096941
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000334068(uc011acw.2)
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Additional mRNA sequence: 

AB096941.1 BC131691.1 

1 DOTS entry:

DT.100698573 

1 AceView cDNA sequence:

NM_181600 

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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KRTAP13-4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
KRTAP13-4 Expression
About this image

KRTAP13-4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KRTAP13-4 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.553677
    Custom PCR Arrays for KRTAP13-4
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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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  --

ENSEMBL Gene Tree for KRTAP13-4 (if available)
TreeFam Gene Tree for KRTAP13-4 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for KRTAP13-4 gene
KRTAP13-22  KRTAP13-12  KRTAP13-32  KRTAP15-12  
3 SIMAP similar genes for KRTAP13-4 using alignment to 1 protein entry:     KR134_HUMAN:
KRTAP13-1    KRTAP13-2    KRTAP13-3

Find genes that share paralogs with KRTAP13-4           About GenesLikeMe



(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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Selected SNPs for KRTAP13-4 (see all 88)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs610124121,2
C,F--31800759(+) TAACTG/AGTTCA 1 -- us2k13Minor allele frequency- A:0.13WA 122
rs1135756811,2
C,F--31800787(+) AAGGAG/ACCTGG 1 -- us2k12Minor allele frequency- A:0.02CSA WA 119
rs28328621,2
C,F,O,H--31800863(+) ACTCAC/TAAGTT 1 -- us2k115Minor allele frequency- T:0.48NA NS EA WA CSA 927
rs1491957261,2
--31800873(+) TTTGTA/GTTCAA 1 -- us2k10--------
rs1814570691,2
--31801137(+) TTATTA/GTTGTA 1 -- us2k10--------
rs1842199451,2
--31801185(+) ACCATG/TACAGT 1 -- us2k10--------
rs1895411331,2
C--31801350(+) CAAACA/GCATGA 1 -- us2k10--------
rs1810862721,2
--31801414(+) AAGCAC/TAGAAA 1 -- us2k10--------
rs1420916951,2
--31801519(+) GGGAAC/TAAAGA 1 -- us2k10--------
rs1858704331,2
--31801629(+) AGAAGA/GTAGAA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for KRTAP13-4 (31802572 - 31803216 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for KRTAP13-4: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing KRTAP13-4
DNA2.0 Custom Variant and Variant Library Synthesis for KRTAP13-4

(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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  --

(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 KRTAP13-4 gene integrated from 10 sources:
(articles sorted by number of sources associating them with KRTAP13-4)
    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, 3 Rogers M.A....Schweizer J. (J. Biol. Chem. 2002)
  2. Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters. (PubMed id 20494980)1 Warnatz H.J....Yaspo M.L. (Nucleic Acids Res. 2010)
  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. (Genome Res. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  5. (PubMed id )2 

(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: 284827 HGNC: 18926 AceView: KRTAP13-4 Ensembl:ENSG00000186971 euGenes: HUgn284827
ECgene: KRTAP13-4 H-InvDB: KRTAP13-4

(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 KRTAP13-4 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 KRTAP13-4 gene:
Search GeneIP for patents involving KRTAP13-4

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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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 antibodies-online proteins for KRTAP13-4 (2 products)
       
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