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KRTAP9-1 Gene

protein-coding   GIFtS: 26
GCID: GC17P039344          (predicted)

Keratin Associated Protein 9-1

(Previous name: keratin associated protein 9-like 3)
(Previous symbol: KRTAP9L3)
  See related diseases
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 9-11 2     Keratin-Associated Protein 9-12
KRTAP9L31 2     Putative Keratin-Associated Protein 9-2-Like 32
Keratin Associated Protein 9-Like 31 2     KRTAP9.13
KAP9.12 3     

External Ids:    HGNC: 189121   Entrez Gene: 7283182   Ensembl: ENSG000002405427   UniProtKB: A8MXZ33   

Export aliases for KRTAP9-1 gene to outside databases

Previous GC identifers: GC17U900021 GC17P036598 GC17P039346 GC17P035121


(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 KRTAP9-1 Gene:
KRTAP9-1 (keratin associated protein 9-1) is a protein-coding gene. Diseases associated with KRTAP9-1 include fraser syndrome, and malaria. An important paralog of this gene is KRTAP9-3.

UniProtKB/Swiss-Prot: KRA91_HUMAN, A8MXZ3
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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for KRTAP9-1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KRTAP9-1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRTAP9-1


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

KRTAP9-1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP9-1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P039344:  view genomic region     (about GC identifiers)

Start:
39,344,697 bp from pter      End:
39,346,891 bp from pter
Size:
2,195 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, 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KRA91_HUMAN, A8MXZ3 (See protein sequence)
Recommended Name: Keratin-associated protein 9-1  
Size: 250 amino acids; 26333 Da
Subunit: Interacts with hair keratins (By similarity)

Explore the universe of human proteins at neXtProt for KRTAP9-1: NX_A8MXZ3

Explore proteomics data for KRTAP9-1 at MOPED


See KRTAP9-1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001177389.1  
ENSEMBL proteins: 
 ENSP00000381488   ENSP00000366952   ENSP00000325023  

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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 A8MXZ3

ProtoNet protein and cluster: A8MXZ3

UniProtKB/Swiss-Prot: KRA91_HUMAN, A8MXZ3
Similarity: Belongs to the KRTAP type 9 family


KRTAP9-1 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,
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: KRA91_HUMAN, A8MXZ3
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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(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
peroxisome1

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

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

KRTAP9-1 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 KRTAP9-1
Interactions:

    Search GeneGlobe Interaction Network for KRTAP9-1

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

Selected Interacting proteins for KRTAP9-1 (ENSP000003814884) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
InteractantInteraction Details
GeneCardExternal ID(s)
KCNK6ENSP000002633724STRING: ENSP00000263372
ADAMTSL4ENSP000002716434STRING: ENSP00000271643
BMPERENSP000002971614STRING: ENSP00000297161
CRIM1ENSP000002805274STRING: ENSP00000280527
PAPLNENSP000003453954STRING: ENSP00000345395
About this table

(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 Tocris compounds for KRTAP9-1 (KRA91)



(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,
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 KRTAP9-1 gene: 
NM_001190460.1  

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000398470(uc021txf.1) ENST00000377723 ENST00000318329
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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™, 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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See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

KRTAP9-1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KRTAP9-1 Protein Expression
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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 KRTAP9-1 gene from Selected species (see all 4)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Krtap9-51 , 5 keratin associated protein 9-51, 5 68.71(n)1
57.65(a)1
  11 (63.29 cM)5
4352861  NM_001085527.11  NP_001078996.11 
 999484755 


ENSEMBL Gene Tree for KRTAP9-1 (if available)
TreeFam Gene Tree for KRTAP9-1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for KRTAP9-1 gene
KRTAP9-32  KRTAP4-42  KRTAP9-62  KRTAP4-72  KRTAP4-52  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 KRTAP9-1 using alignment to 3 protein entries:     KRA91_HUMAN (see all proteins):
KRTAP9-2    KRTAP9-7    KRTAP9-9    KRTAP9-3    KRTAP9-4    KRTAP9-8
KRTAP4-16P    KRTAP4-2    KRTAP4-1    KRTAP12-4

KRTAP9-1 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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Selected SNPs for KRTAP9-1 (see all 99)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1892271411,2
--35119163(+) CATCTC/TTACTA 1 -- us2k10--------
rs1923200271,2
--35119263(+) GAAGCA/GGGGGT 1 -- us2k10--------
rs2388251,2
F--35119265(-) caaccA/Cccgct 1 -- us2k10--------
rs1178562001,2
C,F--35119322(+) TAAGAC/TTCTAT 1 -- us2k11Minor allele frequency- T:0.07NA 120
rs1834732861,2
--35119375(+) ATTCAA/GTAATC 1 -- us2k10--------
rs1495286651,2
--35119395(+) TTCCCA/GCTATG 1 -- us2k10--------
rs1460235171,2
--35119409(+) CAAACC/TCATTC 1 -- us2k10--------
rs1882071801,2
--35119499(+) ACCAGA/GTCATT 1 -- us2k10--------
rs1810869691,2
--35119680(+) AGTGAA/GAATAA 1 -- us2k10--------
rs1840873751,2
--35119684(+) AAAATA/TAGAAA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for KRTAP9-1 (39344697 - 39346891 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for KRTAP9-1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv908232CNV Loss21882294
nsv833446CNV Gain17160897
dgv961e1CNV Complex17122850

Site Specific Mutation Identification with PCR Assays
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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.)
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2 diseases for KRTAP9-1:    About MalaCards
fraser syndrome    malaria


KRTAP9-1 for disorders           About GeneDecksing


Export disorders for KRTAP9-1 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 KRTAP9-1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with KRTAP9-1)
    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. (Nature 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. (J. Biol. Chem. 2001)

(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: 728318 HGNC: 18912 Ensembl:ENSG00000240542 euGenes: HUgn728318 ECgene: KRTAP9-1
H-InvDB: KRTAP9-1

(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 KRTAP9-1 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 KRTAP9-1 gene:
Search GeneIP for patents involving KRTAP9-1

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, 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
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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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