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KRTAP8-1 Gene

protein-coding   GIFtS: 38
GCID: GC21M032185

Keratin Associated Protein 8-1

  Search for KRTAP8-1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Keratin Associated Protein 8-11 2
High Glycine-Tyrosine Keratin-Associated Protein 8.12 3
KAP8.12 3
Keratin-Associated Protein 8-12
KRTAP8.13

External Ids:    HGNC: 189351   Entrez Gene: 3378792   Ensembl: ENSG000001836407   UniProtKB: Q8IUC23   

Export aliases for KRTAP8-1 gene to outside databases

Previous GC identifers: GC21U900011 GC21M031105 GC21M031106 GC21M017593


(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 KRTAP8-1 Gene:
KRTAP8-1 (keratin associated protein 8-1) is a protein-coding gene.

UniProtKB/Swiss-Prot: KRA81_HUMAN, Q8IUC2
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_000021.9  NC_018932.2  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRTAP8-1 gene promoter:
         RFX1   ISGF-3   AML1a   AP-1   Pax-6   Chx10   Ik-3   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRTAP8-1 promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRTAP8-1


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

Entrez Gene cytogenetic band: 21q22.1   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22.1

KRTAP8-1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP8-1 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M032185:  view genomic region     (about GC identifiers)

Start:
32,185,015 bp from pter      End:
32,185,570 bp from pter
Size:
556 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: KRA81_HUMAN, Q8IUC2 (See protein sequence)
Recommended Name: Keratin-associated protein 8-1  
Size: 63 amino acids; 6826 Da
Subunit: Interacts with hair keratins
Secondary accessions: Q3LI57

Explore the universe of human proteins at neXtProt for KRTAP8-1: NX_Q8IUC2

Explore proteomics data for KRTAP8-1 at MOPED


See KRTAP8-1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_787053.1  
ENSEMBL proteins: 
 ENSP00000332805  

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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:
 IPR021743 KRTAP_type6/8/16/19/20

Graphical View of Domain Structure for InterPro Entry Q8IUC2

ProtoNet protein and cluster: Q8IUC2

UniProtKB/Swiss-Prot: KRA81_HUMAN, Q8IUC2
Similarity: Belongs to the KRTAP type 8 family


KRTAP8-1 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: KRA81_HUMAN, Q8IUC2
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

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
cytoskeleton3
extracellular3
cytosol1
mitochondrion1

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005882intermediate filament IEA--

KRTAP8-1 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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Interactions:

    Search GeneGlobe Interaction Network for KRTAP8-1

(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 Tocris compounds for KRTAP8-1 (KRA81)



(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 KRTAP8-1 gene: 
NM_175857.3  

Unigene Cluster for KRTAP8-1:

Keratin associated protein 8-1
Hs.407655  [show with all ESTs]
Unigene Representative Sequence: NM_175857
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000329621(uc002you.3)
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Additional mRNA sequence: 

AB096961.1 AJ457064.1 BC130397.1 BC133033.1 

1 DOTS entry:

DT.99927092 

2 AceView cDNA sequences:

NM_175857 AJ457064 

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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KRTAP8-1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GATATGTCTA
KRTAP8-1 Expression
About this image


KRTAP8-1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Epithelial Cells
         Fetal Matrix Cells Hair Follicle
 
 Hair (Integumentary System)
         Fetal Matrix Cells Hair Follicle
KRTAP8-1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KRTAP8-1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.407655

UniProtKB/Swiss-Prot: KRA81_HUMAN, Q8IUC2
Tissue specificity: Is essentially restricted to only one vertical half of the hair forming compartment and in
beard hairs is absent from the central medulla

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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 KRTAP8-1 gene from Selected species (see all 4)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Krtap8-15 keratin associated protein 8-1   --   16 (51.42 cM) 89487374 


ENSEMBL Gene Tree for KRTAP8-1 (if available)
TreeFam Gene Tree for KRTAP8-1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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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 KRTAP8-1 (see all 70)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1410189411,2
--32184613(+) GGGCAC/TGGCAC 1 -- int10--------
rs1824248801,2
--32184619(+) GGCACC/TTTAGT 1 -- int10--------
rs1867077581,2
--32184723(+) CTTGCA/GGAGGA 1 -- int10--------
rs1498276041,2
--32184755(+) GGGGAC/TCCCGA 1 -- int10--------
rs99850171,2
C,F,A,H--32184901(+) TTTCTC/GGCTGT 1 -- int117Minor allele frequency- G:0.36NS EA WA NA CSA 793
rs1423600531,2
C--32184947(+) CCCCC-/AACCAC 1 -- int10--------
rs130526141,2
C,F,A,H--32184951(+) CCACCC/ACCCAT 1 -- int19Minor allele frequency- A:0.25EA NS WA NA CSA 169
rs1840258421,2
--32184952(+) CACCAA/CCCATG 1 -- int10--------
rs1159254521,2
F--32184956(+) ACCCAT/AGTAAC 1 -- int11Minor allele frequency- A:0.11WA 118
rs28331011,2
C,F,O,A,H--32185088(+) TCATGA/GAAAAT 1 -- ut3128Minor allele frequency- N:0.00NA EA NS WA CSA 2579

HapMap Linkage Disequilibrium report for KRTAP8-1 (32185015 - 32185570 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for KRTAP8-1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv459237CNV Gain19166990
nsv834077CNV Gain17160897

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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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  --

(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 KRTAP8-1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with KRTAP8-1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Characterization of a first domain of human high glycine-tyrosine and high sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1. (PubMed id 12359730)1, 2, 3 Rogers M.A....Schweizer J. (J. Biol. Chem. 2002)
  2. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M.... Yaspo M.-L. (Nature 2000)
  3. Bidirectional binding property of high glycine-tyrosine keratin-associated protein contributes to the mechanical strength and shape of hair. (PubMed id 23791804)1 Matsunaga R....Tsumoto K. (J. Struct. Biol. 2013)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  5. A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. (PubMed id 15028290)2 Shibuya K....Shimizu N. (Genomics 2004)
  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: 337879 HGNC: 18935 AceView: KRTAP8-1 Ensembl:ENSG00000183640 euGenes: HUgn337879
ECgene: KRTAP8-1 H-InvDB: KRTAP8-1

(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 KRTAP8-1 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 KRTAP8-1 gene:
Search GeneIP for patents involving KRTAP8-1

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
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRTAP8-1
 SwitchGear 3'UTR luciferase reporter plasmids for KRTAP8-1
 SwitchGear Promoter luciferase reporter plasmids for KRTAP8-1
 Search ThermoFisher Antibodies for KRTAP8-1
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRTAP8-1
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KRTAP8-1
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KRTAP8-1
 LSBio Antibodies in human, mouse, rat for KRTAP8-1
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
 Browse compounds at ApexBio
       
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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