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KRTAP7-1 Gene

protein-coding   GIFtS: 29
GCID: GC21M032201

Keratin Associated Protein 7-1 (Gene/Pseudogene)

(Previous name: keratin associated protein 7-1)
  Search for KRTAP7-1
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 7-1 (Gene/Pseudogene)1 2
High Tyrosine-Glycine Keratin-Associated Protein 7.12 3
KAP7.12 3
Keratin Associated Protein 7-11
Keratin-Associated Protein 7-12
KRTAP7.13

External Ids:    HGNC: 189341   Entrez Gene: 3378782   Ensembl: ENSG000001845867   UniProtKB: Q8IUC33   

Export aliases for KRTAP7-1 gene to outside databases

Previous GC identifers: GC21U900010 GC21M031122 GC21M017610


(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 KRTAP7-1 Gene:
KRTAP7-1 (keratin associated protein 7-1 (gene/pseudogene)) is a protein-coding gene.

UniProtKB/Swiss-Prot: KRA71_HUMAN, Q8IUC3
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 KRTAP7-1 gene promoter:
         LHX3b/Lhx3b   AML1a   FOXO3   GATA-1   FOXO3b   FOXL1   LHX3a/Lhx3a   FOXO3a   RSRFC4   Hlf   
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRTAP7-1


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

KRTAP7-1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP7-1 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M032201:  view genomic region     (about GC identifiers)

Start:
32,201,357 bp from pter      End:
32,202,078 bp from pter
Size:
722 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for KRTAP7-1

(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: KRA71_HUMAN, Q8IUC3 (See protein sequence)
Recommended Name: Keratin-associated protein 7-1  
Size: 87 amino acids; 9288 Da
Subunit: Interacts with hair keratins
Caution: The sequence of 1-36 of PubMed:12359730 has not been submitted
Secondary accessions: Q3LI56

Explore the universe of human proteins at neXtProt for KRTAP7-1: NX_Q8IUC3

REFSEQ proteins: NP_853637.2  

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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:
 IPR020184 KRTAP7

Graphical View of Domain Structure for InterPro Entry Q8IUC3

ProtoNet protein and cluster: Q8IUC3

UniProtKB/Swiss-Prot: KRA71_HUMAN, Q8IUC3
Similarity: Belongs to the KRTAP type 7 family


KRTAP7-1 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: KRA71_HUMAN, Q8IUC3
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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Gene Ontology (GO): 1 cellular component term:    About this table

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

KRTAP7-1 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 KRTAP7-1

(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 KRTAP7-1 (KRA71)



(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 KRTAP7-1 gene: 
NM_181606.2  

Unigene Cluster for KRTAP7-1:

Keratin associated protein 7-1 (gene/pseudogene)
Hs.407656
Unigene Representative Sequence: NM_181606
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000452750(processed_transcript)
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Additional mRNA sequence: 

AB096962.1 AJ457063.1 

1 DOTS entry:

DT.99927091 

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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KRTAP7-1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TATTATTAGC
KRTAP7-1 Expression
About this image

KRTAP7-1 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.407656

UniProtKB/Swiss-Prot: KRA71_HUMAN, Q8IUC3
Tissue specificity: Expressed in the upper portion of the hair cortex

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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)
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This gene was present in the common ancestor of human and mouse.

Orthologs for KRTAP7-1 gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Krtap7-11 , 5 keratin associated protein 7-11, 5 82.95(n)1
80.23(a)1
  16 (51.42 cM)5
713631  NM_027771.11  NP_082047.11 
 895077045 


ENSEMBL Gene Tree for KRTAP7-1 (if available)
TreeFam Gene Tree for KRTAP7-1 (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 KRTAP7-1 (see all 56)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs119105861,2
C,F,H--17609801(+) AAATCT/ATAGGA 1 -- int110Minor allele frequency- A:0.10NS EA NA WA 1286
rs28331171,2
C,F,O,H--17609864(+) ACAACA/CTGAGG 1 -- int138Minor allele frequency- N:0.00NA EA NS WA CSA 3424
rs1881004381,2
C--17609875(+) GGTTCA/CAATCT 1 -- int10--------
rs1499294971,2
--17609941(+) CTTGTC/TACTAA 1 -- int10--------
rs2015608681,2
C--17609955(+) AAGAG-/AAAAAG 1 -- int10--------
rs1914430871,2
--17610027(+) ACGCCA/GACAAT 1 -- int10--------
rs1450151341,2
--17610067(+) TTTCCA/GGGGAG 1 -- int10--------
rs1821749711,2
--17610073(+) GGGAGG/TTTTTT 1 -- int10--------
rs1879624291,2
--17610108(+) AAAAAA/TTGGTT 1 -- int10--------
rs752067471,2
C--17610183(+) TACGGG/TTTTAA 1 -- int12Minor allele frequency- T:0.07CSA WA 120

HapMap Linkage Disequilibrium report for KRTAP7-1 (32201357 - 32202078 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for KRTAP7-1:    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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KRTAP7-1 for disorders           About GeneDecksing

Genetic Association Database (GAD): KRTAP7-1

Export disorders for KRTAP7-1 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 KRTAP7-1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with KRTAP7-1)
    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. Whole genome association scan for genetic polymorphisms influencing information processing speed. (PubMed id 21130836)4 Luciano M....Deary I.J. (Biol Psychol 2011)

(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: 337878 HGNC: 18934 Ensembl:ENSG00000184586 euGenes: HUgn337878 ECgene: KRTAP7-1
H-InvDB: KRTAP7-1

(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 KRTAP7-1 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 KRTAP7-1 gene:
Search GeneIP for patents involving KRTAP7-1

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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The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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