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KRTAP4-5 Gene

protein-coding   GIFtS: 41
GCID: GC17M039305

Keratin Associated Protein 4-5

  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)
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Aliases
Keratin Associated Protein 4-51 2
Keratin-Associated Protein 4.52 3
Ultrahigh Sulfur Keratin-Associated Protein 4.52 3
KAP4.52 3
KRTAP4.52 3
Keratin-Associated Protein 4-52

External Ids:    HGNC: 188991   Entrez Gene: 852892   Ensembl: ENSG000001982717   UniProtKB: Q9BYR23   

Export aliases for KRTAP4-5 gene to outside databases

Previous GC identifers: GC17M038890 GC17M041409 GC17M039213 GC17M039678 GC17M036559 GC17M035082


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KRTAP4-5 Gene:
This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin
intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have
unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families
according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs.
This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at
17q12-q21. (provided by RefSeq, Jul 2008)

GeneCards Summary for KRTAP4-5 Gene:
KRTAP4-5 (keratin associated protein 4-5) is a protein-coding gene. Diseases associated with KRTAP4-5 include fraser syndrome. An important paralog of this gene is KRTAP9-3.

UniProtKB/Swiss-Prot: KRA45_HUMAN, Q9BYR2
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:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRTAP4-5 gene promoter:
         POU2F1   COMP1   POU2F1a   MyoD   FOXD1   AP-4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRTAP4-5 promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRTAP4-5


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

KRTAP4-5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP4-5 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M039305:  view genomic region     (about GC identifiers)

Start:
39,305,176 bp from pter      End:
39,306,054 bp from pter
Size:
879 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KRA45_HUMAN, Q9BYR2 (See protein sequence)
Recommended Name: Keratin-associated protein 4-5  
Size: 181 amino acids; 19363 Da
Subunit: Interacts with hair keratins

Explore the universe of human proteins at neXtProt for KRTAP4-5: NX_Q9BYR2

Explore proteomics data for KRTAP4-5 at MOPED


See KRTAP4-5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_149445.3  
ENSEMBL proteins: 
 ENSP00000340546  

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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:
 IPR002494 Keratin-assoc

Graphical View of Domain Structure for InterPro Entry Q9BYR2

ProtoNet protein and cluster: Q9BYR2

2 Blocks protein domains:
IPB001007 von Willebrand factor
IPB001368 TNFR/CD27/30/40/95 cysteine-rich region


UniProtKB/Swiss-Prot: KRA45_HUMAN, Q9BYR2
Similarity: Belongs to the KRTAP type 4 family


KRTAP4-5 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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: KRA45_HUMAN, Q9BYR2
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

Phenotypes:
     1 GenomeRNAi human phenotype for KRTAP4-5:

 Increased gamma-H2AX phosphory 

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
cytoskeleton2
cytosol2
extracellular2
nucleus1

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

GO IDQualified GO termEvidencePubMed IDs
GO:0045095keratin filament IEA--

KRTAP4-5 for ontologies           About GeneDecksing


(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 KRTAP4-5
Interactions:

    Search GeneGlobe Interaction Network for KRTAP4-5

(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 drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for KRTAP4-5 (KRA45)



(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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for KRTAP4-5 gene: 
NM_033188.3  

Unigene Cluster for KRTAP4-5:

Keratin associated protein 4-5
Hs.514863
Unigene Representative Sequence: AJ406937
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000343246(uc002hwb.3)
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Additional mRNA sequence: AJ406937.1 

1 DOTS entry:

DT.91993501 

2 AceView cDNA sequences:

NM_033188 AJ406937 

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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KRTAP4-5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TATTAATAAA
KRTAP4-5 Expression
About this image

KRTAP4-5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KRTAP4-5 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.514863

UniProtKB/Swiss-Prot: KRA45_HUMAN, Q9BYR2
Tissue specificity: Expressed in the hair follicles

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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 KRTAP4-5 (if available)
TreeFam Gene Tree for KRTAP4-5 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for KRTAP4-5 gene
KRTAP9-32  KRTAP4-42  KRTAP9-12  KRTAP9-62  KRTAP4-72  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 KRTAP4-5 using alignment to 1 protein entry:     KRA45_HUMAN:
KRTAP4-8    KRTAP4-11    KRTAP4-12    KRTAP4-6    KRTAP4-16P    KRTAP4-7
KRTAP4-9    KRTAP4-2    KRTAP4-1    KRTAP9-4

KRTAP4-5 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), 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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Polymorphic Variants from UniProtKB/Swiss-Prot
KRA45_HUMAN, Q9BYR2: Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in
the sequence encoding cysteine-rich repeat segments. The sequence shown is that of allele KAP4.5-v1


Selected SNPs for KRTAP4-5 (see all 108)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1503052311,2
--39304682(+) AACACA/GCCCAA 1 -- ds50010--------
rs1379744631,2
C--39304793(+) TGCTGC/GGATTG 1 -- ds50010--------
rs1894992651,2
--39304980(+) ACTTGC/TCCCAT 1 -- ds50010--------
rs1490701341,2
C--39305034(+) GAACAC/TGAATC 1 -- ds50010--------
rs1164295061,2
C,F--39305075(+) GCATTT/GGAAGA 1 -- ds50011Minor allele frequency- G:0.02WA 118
rs40579221,2
C--39305114(+) TAAAG-/ACACACA 1 -- ds50011Minor allele frequency- AC:0.00NA 2
rs1431627611,2
C--39305137(+) ACACA-/CGCACAA 1 -- ds50010--------
rs1437627651,2
--39305171(+) GATTTC/GAATAT 1 -- ds50010--------
rs2007492421,2
C--39305191(+) GGCTGG/TTTATT 1 -- ut310--------
rs174915031,2
C,F,H--39305257(+) AAGACA/CCTGCT 1 -- ut3115Minor allele frequency- C:0.04NA NS EA 1440

HapMap Linkage Disequilibrium report for KRTAP4-5 (39305176 - 39306054 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for KRTAP4-5:    About this table    
Variant IDTypeSubtypePubMed ID
esv2715916CNV Deletion23290073
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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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1 disease for KRTAP4-5:    
About MalaCards
fraser syndrome


KRTAP4-5 for disorders           About GeneDecksing

Genetic Association Database (GAD): KRTAP4-5
Human Genome Epidemiology (HuGE) Navigator: KRTAP4-5 (1 document)

Export disorders for KRTAP4-5 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)
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PubMed articles for KRTAP4-5 gene integrated from 10 sources:
(articles sorted by number of sources associating them with KRTAP4-5)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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, 2, 3 Rogers M.A....Schweizer J. (J. Biol. Chem. 2001)
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
  4. Size polymorphisms in the human ultrahigh sulfur hair keratin- associated protein 4, KAP4, gene family. (PubMed id 15955084)2 Kariya N.... Ito M. (J. Invest. Dermatol. 2005)

(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: 85289 HGNC: 18899 AceView: KRTAP4-5 Ensembl:ENSG00000198271 euGenes: HUgn85289
ECgene: KRTAP4-5 H-InvDB: KRTAP4-5

(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 KRTAP4-5 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 KRTAP4-5 gene:
Search GeneIP for patents involving KRTAP4-5

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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