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

KRTAP9-6 Gene

protein-coding   GIFtS: 22
GCID: GC17P039421          (predicted)

keratin associated protein 9-6

(Previous name: keratin associated protein 9-like 2 )
(Previous symbol: KRTAP9L2)
 Explore 1 disease affiliated with
KRTAP9-6 via our new
 Human Malady Compendium 
Biological research products
for KRTAP9-6
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Keratin Associated Protein 9-61 2     KRTAP9.62 3
KAP9.61 2 3     Keratin-Associated Protein 9-62
KRTAP9L21 2     Putative Keratin-Associated Protein 9-2-Like 22
Keratin Associated Protein 9-Like 21 2     

External Ids:    HGNC: 189141   Entrez Gene: 1005076082   Ensembl: ENSG000002126597   UniProtKB: A8MVA23   

Export aliases for KRTAP9-6 gene to outside databases

Previous GC identifers: GC17U990265 GC17P036676


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: KRA96_HUMAN, A8MVA2
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 (By similarity)




(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
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for KRTAP9-6
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KRTAP9-6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP9-6


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

Entrez Gene cytogenetic band: 17q12-q21   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q12-q21

KRTAP9-6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP9-6 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P039421:  view genomic region     (about GC identifiers)

Start:
39,421,591 bp from pter      End:
39,422,893 bp from pter
Size:
1,303 bases      Orientation:
plus strand

(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: KRA96_HUMAN, A8MVA2 (See protein sequence)
Recommended Name: Keratin-associated protein 9-6  
Size: 160 amino acids; 16800 Da
Subunit: Interacts with hair keratins (By similarity)

Explore the universe of human proteins at neXtProt for KRTAP9-6: NX_A8MVA2

KRTAP9-6 Protein expression data from MOPED and PaxDb:    About this image 
KRTAP9-6 Protein Expression

ENSEMBL proteins: 
 ENSP00000375150  

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Uscn Proteins for KRTAP9-6

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--

KRTAP9-6 for ontologies           About GeneDecksing



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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

KRTAP9-6 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR002494 Keratin-assoc

Graphical View of Domain Structure for InterPro Entry A8MVA2

ProtoNet protein and cluster: A8MVA2

UniProtKB/Swiss-Prot: KRA96_HUMAN, A8MVA2
Similarity: Belongs to the KRTAP type 9 family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: KRA96_HUMAN, A8MVA2
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 (By similarity)

Animal Models:

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(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 KRTAP9-6

(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 KRTAP9-6
Search CenterWatch for drugs/clinical trials and news about KRTAP9-6 / KRA96 

(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

1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000391355

miRNA
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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

KRTAP9-6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
KRTAP9-6 Expression
About this image
See KRTAP9-6 Protein Expression from SPIRE MOPED and PaxDB    SABiosciences Custom PCR Arrays for KRTAP9-6

Primer
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In Situ
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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)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for KRTAP9-6 gene from 4/9 species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves --
--
7(a)
possible ortholog
25(1245309-1247390)
fruit fly
(Drosophila melanogaster)
Insecta CG427586
Pif26
PFTAIRE-interacting factor 2
21(a)
17(a)
possible ortholog
possible ortholog
3L(14560540-14561233)
3R(2374758-2375705)
worm
(Caenorhabditis elegans)
Secernentea pqn-906
pqn-916
(see all 22)
Prion-like-(Q/N-rich)-domain-bearing protein famil...
Prion-like-(Q/N-rich)-domain-bearing protein famil...
(see all 22)
9(a)
9(a)
(see all 22)
possible ortholog
possible ortholog
(see all 22)
IV(15289869-15291230)
IV(15291875-15293411)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G206356
uncharacterized protein
8(a)
possible ortholog
5(6979213-6981935)


ENSEMBL Gene Tree for KRTAP9-6 (if available)
TreeFam Gene Tree for KRTAP9-6 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for KRTAP9-6 gene
KRTAP4-42  KRTAP10-22  KRTAP9-32  KRTAP10-112  KRTAP5-102  KRTAP4-72  KRTAP1-12  KRTAP10-12  
KRTAP5-42  KRTAP1-42  KRTAP9-72  KRTAP4-12  KRTAP4-122  KRTAP10-32  KRTAP9-92  KRTAP10-122  
KRTAP5-22  KRTAP2-22  KRTAP12-32  KRTAP5-72  KRTAP10-102  KRTAP10-82  KRTAP16-12  KRTAP9-22  
KRTAP12-42  KRTAP5-12  KRTAP4-16P2  KRTAP5-32  KRTAP1-52  KRTAP4-112  KRTAP2-42  KRTAP10-62  
KRTAP9-12  KRTAP1-32  KRTAP10-72  KRTAP4-52  KRTAP2-12  KRTAP4-22  KRTAP9-42  KRTAP4-92  
KRTAP5-52  KRTAP5-62  KRTAP12-22  KRTAP29-12  KRTAP5-112  KRTAP10-92  KRTAP5-92  KRTAP10-52  
KRTAP4-82  KRTAP12-12  KRTAP5-82  KRTAP2-32  KRTAP9-82  KRTAP4-62  KRTAP10-42  KRTAP4-32  
8 SIMAP similar genes for KRTAP9-6 using alignment to 2 protein entries:     KRA96_HUMAN (see all proteins):
KRTAP9-2    KRTAP9-7    KRTAP9-9    KRTAP9-8    KRTAP9-3    KRTAP9-4
KRTAP9-1    KRTAP4-1

KRTAP9-6 for paralogs           About GeneDecksing



(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 KRTAP9-6 are shown (see all 71    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs770187051,2
C--35183290(+) GTTTCC/TGCCAG 1 -- us2k12Minor allele frequency- T:0.03NA 122
rs609544131,2
F--35184235(+) AATTTG/ACACTC 1 -- us2k11Minor allele frequency- A:0.06WA 118
rs98961171,2
C,F,A,H--35184913(+) CACCAG/TGAACT 1 -- us2k16Minor allele frequency- T:0.13NS NA WA 626
rs780408791,2
F--35185108(+) AACAAC/TTGTAA 1 -- us2k11Minor allele frequency- T:0.03WA 118
rs129383741,2
C,F,A--35185400(+) GCCTTG/ACTGCC 2 /Y /C mis16Minor allele frequency- A:0.27NA WA CSA 11
rs129386921,2
C,F,A--35185505(+) CTGCTG/ACCAGC 2 /Y /C mis13Minor allele frequency- A:0.33NA 6
rs768702871,2
F--35186125(+) AACTTT/CACTGA 1 -- ds50011Minor allele frequency- C:0.16WA 118
rs1887055421,2
--39419759(+) CTGATG/TGGTCT 1 -- us2k10--------
rs560479421,2
C,F--39419792(+) CCATTC/GTCCAA 1 -- us2k110Minor allele frequency- G:0.43WA NA CSA EA 371
rs1928140221,2
--39420017(+) TGCATA/GTAGAG 1 -- us2k10--------

HapMap Linkage Disequilibrium report for KRTAP9-6 (39421591 - 39422893 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for KRTAP9-6: --

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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.)
About This Section

KRTAP9-6 for disorders           About GeneDecksing

1 disease for KRTAP9-6:    About MalaCards
fraser syndrome


Export disorders for KRTAP9-6 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)
About This Section

PubMed articles for KRTAP9-6 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KRTAP9-6)
    Utopia: connect your pdf to the dynamic
world of online information

  1. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)1, 2 Zody M.C.... Nusbaum C. (2006)
  2. 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 Rogers M.A....Schweizer J. (2001)

(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: 100507608 HGNC: 18914 Ensembl:ENSG00000212659 euGenes: HUgn100507608 ECgene: KRTAP9-6
H-InvDB: KRTAP9-6

(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 KRTAP9-6 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 KRTAP9-6 gene:
Search GeneIP for patents involving KRTAP9-6

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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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)
About This Section

 
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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VWF
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von Willebrand factor
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