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KRTAP3-2 Gene

protein-coding   GIFtS: 40
GCID: GC17M039155

Keratin Associated Protein 3-2

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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 3-21 2     KRTAP3.22 3
High Sulfur Keratin-Associated Protein 3.22 3     Keratin Associated Protein 3.22
Keratin-Associated Protein 3.22 3     Keratin-Associated Protein 3-22
KAP3.22 3     

External Ids:    HGNC: 167791   Entrez Gene: 838972   Ensembl: ENSG000002129007   UniProtKB: Q9BYR73   

Export aliases for KRTAP3-2 gene to outside databases

Previous GC identifers: GC17M038655 GC17M041331 GC17M039064 GC17M039528 GC17P9W0128 GC17M036408 GC17M034950


(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 KRTAP3-2 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 high sulfur KAP family and the gene is localized to a cluster of KAPs at
17q12-q21. (provided by RefSeq, Jul 2008)

GeneCards Summary for KRTAP3-2 Gene:
KRTAP3-2 (keratin associated protein 3-2) is a protein-coding gene. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRTAP3-3.

UniProtKB/Swiss-Prot: KRA32_HUMAN, Q9BYR7
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_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRTAP3-2 gene promoter:
         TBP   Nkx2-2   IRF-1   LCR-F1   FOXL1   HEN1   FOXJ2 (long isoform)   LHX3a/Lhx3a   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRTAP3-2 promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRTAP3-2


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

KRTAP3-2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP3-2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M039155:  view genomic region     (about GC identifiers)

Start:
39,155,445 bp from pter      End:
39,156,138 bp from pter
Size:
694 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, 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: KRA32_HUMAN, Q9BYR7 (See protein sequence)
Recommended Name: Keratin-associated protein 3-2  
Size: 98 amino acids; 10407 Da
Subunit: Interacts with hair keratins

Explore the universe of human proteins at neXtProt for KRTAP3-2: NX_Q9BYR7

Explore proteomics data for KRTAP3-2 at MOPED


See KRTAP3-2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_114165.1  
ENSEMBL proteins: 
 ENSP00000375429  

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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:
 IPR007659 Keratin_matx

Graphical View of Domain Structure for InterPro Entry Q9BYR7

ProtoNet protein and cluster: Q9BYR7

1 Blocks protein domain: IPB007659 Keratin

UniProtKB/Swiss-Prot: KRA32_HUMAN, Q9BYR7
Similarity: Belongs to the KRTAP type 3 family


Find genes that share domains with KRTAP3-2           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: KRA32_HUMAN, Q9BYR7
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

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005198structural molecule activity IEA--
GO:0005515protein binding IPI--
     
Find genes that share ontologies with KRTAP3-2           About GenesLikeMe


Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for KRTAP3-2

miRNA
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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
extracellular3
cytoskeleton2
cytosol1
mitochondrion1
nucleus1
peroxisome1

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

GO IDQualified GO termEvidencePubMed IDs
GO:0045095keratin 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 KRTAP3-2
Interactions:

    Search GeneGlobe Interaction Network for KRTAP3-2

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

3 Interacting proteins for KRTAP3-2 (Q9BYR71, 2, 3 ENSP000003754294) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
TRIP13Q156452, 3, ENSP000001663454MINT-68255 I2D: score=5 STRING: ENSP00000166345
KRTAP4-12Q9BQ662, 3, ENSP000003775824MINT-68059 I2D: score=5 STRING: ENSP00000377582
Hoxa1P090221EBI-751260,EBI-3957603
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(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 Small Molecules at EMD Millipore
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  Browse compounds at ApexBio 

Browse Tocris compounds for KRTAP3-2 (KRA32)



(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 KRTAP3-2 gene: 
NM_031959.2  

Unigene Cluster for KRTAP3-2:

Keratin associated protein 3-2
Hs.307026  [show with all ESTs]
Unigene Representative Sequence: AJ406932
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000391587(uc002hvs.3)
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Additional mRNA sequence: 

AJ406932.1 BC034582.1 

1 DOTS entry:

DT.92065437 

7 AceView cDNA sequences:

BC034582 BM782507 BE887504 BX280406 NM_031959 AA663356 AJ406932 

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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KRTAP3-2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
KRTAP3-2 Expression
About this image

KRTAP3-2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KRTAP3-2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.307026
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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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This gene was present in the common ancestor of human and mouse.

Orthologs for KRTAP3-2 gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Krtap3-25 keratin associated protein 3-2   --   11 (62.92 cM) 99555823 


ENSEMBL Gene Tree for KRTAP3-2 (if available)
TreeFam Gene Tree for KRTAP3-2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for KRTAP3-2 gene
KRTAP3-32  KRTAP3-12  
2 SIMAP similar genes for KRTAP3-2 using alignment to 1 protein entry:     KRA32_HUMAN:
KRTAP3-3    KRTAP3-1

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(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 KRTAP3-2 (see all 104)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1475627881,2
--39155034(+) AGGTTC/TTATGA 1 -- ds50010--------
rs99102191,2
C,F,H--39155122(+) ACTTTG/CAGAAT 1 -- ds500112Minor allele frequency- C:0.35NA WA CSA 158
rs99085751,2
C,F,A--39155138(+) ATAACA/G/TCTTAA 1 -- ds50018NA WA CSA 152
rs1482291371,2
--39155155(+) ATTTTC/TTCTTA 1 -- ds50010--------
rs1892669141,2
--39155160(+) TTCTTA/GTCCAT 1 -- ds50010--------
rs178430071,2
C,F,H--39155221(+) AATAAA/GTGTTG 1 -- ds500126Minor allele frequency- G:0.16NA NS EA CSA 2958
rs1808904921,2
--39155312(+) AAGCCA/TTGTTA 1 -- ds50010--------
rs798643571,2
C--39155350(+) CCAAT-/AGAGTCT 1 -- ds50010--------
rs99115111,2
C,F--39155352(+) AATAGG/AGTCTT 1 -- ds50014Minor allele frequency- A:0.43WA NA CSA 7
rs178430061,2
C,F--39155398(+) TTTTTA/GAAATG 1 -- ds50013Minor allele frequency- G:0.15NA 142

HapMap Linkage Disequilibrium report for KRTAP3-2 (39155445 - 39156138 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for KRTAP3-2:    About this table    
Variant IDTypeSubtypePubMed ID
esv2190143CNV Deletion18987734
esv2666089CNV Deletion23128226
esv28462CNV Loss19812545
nsv908230CNV Loss21882294
nsv9550CNV Loss18304495

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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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Find genes that share disorders with KRTAP3-2           About GenesLikeMe

Genetic Association Database (GAD): KRTAP3-2

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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 KRTAP3-2 gene integrated from 10 sources:
(articles sorted by number of sources associating them with KRTAP3-2)
    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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  3. Protein interactions of the transcription factor Hoxa1. (PubMed id 23088713)1 Lambert B....Rezsohazy R. (BMC Dev. Biol. 2012)
  4. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
  5. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
  6. 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)

(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: 83897 HGNC: 16779 AceView: KRTAP3-2.1 Ensembl:ENSG00000212900 euGenes: HUgn83897
ECgene: KRTAP3-2 H-InvDB: KRTAP3-2

(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 KRTAP3-2 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 KRTAP3-2 gene:
Search GeneIP for patents involving KRTAP3-2

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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