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

KRTAP3-1 Gene

protein-coding   GIFtS: 35
GCID: GC17M039164

Keratin Associated Protein 3-1

  Search for KRTAP3-1
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 3-11 2
High Sulfur Keratin-Associated Protein 3.12 3
Keratin-Associated Protein 3.12 3
KAP3.12 3
KRTAP3.12 3
Keratin-Associated Protein 3-12

External Ids:    HGNC: 167781   Entrez Gene: 838962   Ensembl: ENSG000002129017   UniProtKB: Q9BYR83   

Export aliases for KRTAP3-1 gene to outside databases

Previous GC identifers: GC17M038665 GC17M041340 GC17M039073 GC17M039538 GC17M039539 GC17P9W0119 GC17M036419 GC17M034959


(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 KRTAP3-1 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 KRTAP3-1 Gene: 
KRTAP3-1 (keratin associated protein 3-1) is a protein-coding gene. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRTAP3-2.

UniProtKB/Swiss-Prot: KRA31_HUMAN, Q9BYR8
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 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:
   SABiosciences Regulatory transcription factor binding sites in the KRTAP3-1 gene promoter:
         TBP   Nkx2-2   Pax-6   LCR-F1   FOXL1   HEN1   POU2F1   FOXJ2 (long isoform)   POU2F1a   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRTAP3-1 promoter sequence
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP3-1


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

KRTAP3-1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP3-1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M039164:  view genomic region     (about GC identifiers)

Start:
39,164,773 bp from pter      End:
39,175,576 bp from pter
Size:
10,804 bases      Orientation:
minus strand

(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: KRA31_HUMAN, Q9BYR8 (See protein sequence)
Recommended Name: Keratin-associated protein 3-1  
Size: 98 amino acids; 10539 Da
Subunit: Interacts with hair keratins
Secondary accessions: Q14DM4

Explore the universe of human proteins at neXtProt for KRTAP3-1: NX_Q9BYR8

Explore proteomics data for KRTAP3-1 at MOPED 

KRTAP3-1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

KRTAP3-1 Protein Expression

REFSEQ proteins: NP_114164.1  
ENSEMBL proteins: 
 ENSP00000375430  

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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--

KRTAP3-1 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:
 IPR007659 Keratin_matx

Graphical View of Domain Structure for InterPro Entry Q9BYR8

ProtoNet protein and cluster: Q9BYR8

1 Blocks protein domain: IPB007659 Keratin

UniProtKB/Swiss-Prot: KRA31_HUMAN, Q9BYR8
Similarity: Belongs to the KRTAP type 3 family


KRTAP3-1 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

Molecular Function:

     UniProtKB/Swiss-Prot Summary: KRA31_HUMAN, Q9BYR8
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): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005198structural molecule activity IEA--
     
KRTAP3-1 for ontologies           About GeneDecksing


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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 KRTAP3-1

(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
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Browse Tocris compounds for KRTAP3-1 (KRA31)

Search CenterWatch for drugs/clinical trials and news about KRTAP3-1 / KRA31

(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 KRTAP3-1 gene: 
NM_031958.1  

Unigene Cluster for KRTAP3-1:

Keratin associated protein 3-1
Hs.307027  [show with all ESTs]
Unigene Representative Sequence: AJ406931
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000581033 ENST00000391588(uc002hvt.1)
miRNA
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Additional mRNA sequence: 

AJ406931.1 BC113077.1 BC113078.1 

1 DOTS entry:

DT.92416266 

5 AceView cDNA sequences:

AJ406931 NM_031958 BG182681 BF435995 BF435318 

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

KRTAP3-1 expression in normal human tissues (normalized intensities)      KRTAP3-1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGATCAGCCT
KRTAP3-1 Expression
About this image


KRTAP3-1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/3 selected tissues (see all 3) fully expand
 
 Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
         Muscle Progenitor Cells Mandibular Arch Muscles
 
 Blood (Hematopoietic System)
         cd49a+ cells   
 
 Amnion (Extraembryonic Tissues)
         amniotic fluid   

See KRTAP3-1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KRTAP3-1

SOURCE GeneReport for Unigene cluster: Hs.307027
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRTAP3-1

(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 human and mouse.

Orthologs for KRTAP3-1 gene from 1/7 species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Krtap3-11 , 5 keratin associated protein 3-11, 5 86.73(n)1
86.73(a)1
  11 (62.92 cM)5
694731  NM_023511.11  NP_076000.11 
 995660275 


ENSEMBL Gene Tree for KRTAP3-1 (if available)
TreeFam Gene Tree for KRTAP3-1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for KRTAP3-1 gene
KRTAP3-22  KRTAP3-32  
2 SIMAP similar genes for KRTAP3-1 using alignment to 1 protein entry:     KRA31_HUMAN:
KRTAP3-2    KRTAP3-3

KRTAP3-1 for paralogs           About GeneDecksing


3 Pseudogenes.org Pseudogenes for KRTAP3-1
PGOHUM00000248671 PGOHUM00000237072 PGOHUM00000262630


(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

10/95 SNPs in KRTAP3-1 are shown (see all 95)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1840388561,2
--34959172(+) GATATG/TATATG 1 -- ds50010--------
rs1467263991,2
--34959237(+) AGCCCC/TATTTG 1 -- ds50010--------
rs1488952921,2
--34959260(+) ATACTA/CGATAA 1 -- ds50010--------
rs1436114191,2
--34959296(+) TGTTTC/TGGAAG 1 -- ds50010--------
rs1887720711,2
--39164349(+) TCAGAG/TGACTG 1 -- ds50010--------
rs798308351,2
C--39164353(+) ATGACC/TGTGAG 1 -- ds50011Minor allele frequency- T:0.50NA 2
rs177276571,2
C,F--39164438(+) AATCAA/GTGTCA 1 -- ds50013Minor allele frequency- G:0.01NA 130
rs1815370451,2
--39164481(+) AAACAG/TTCTGT 1 -- ds50010--------
rs1134449891,2
F--39164554(+) AAATAC/TCTGTT 1 -- ds50011Minor allele frequency- T:0.50CSA 2
rs1869274841,2
--39164589(+) ACTACC/GACATT 1 -- ds50010--------

HapMap Linkage Disequilibrium report for KRTAP3-1 (39164773 - 39175576 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for KRTAP3-1:    About this table     
Variant IDTypeSubtypePubMed ID
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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
  --

(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 KRTAP3-1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KRTAP3-1)
    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. (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. (2004)
  3. 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)

(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: 83896 HGNC: 16778 AceView: KRTAP3-1.1 Ensembl:ENSG00000212901 euGenes: HUgn83896
ECgene: KRTAP3-1 H-InvDB: KRTAP3-1

(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 KRTAP3-1 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 KRTAP3-1 gene:
Search GeneIP for patents involving KRTAP3-1

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
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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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transforming growth factor, beta 1
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