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KRTAP27-1 Gene

protein-coding   GIFtS: 32
GCID: GC21M031709

Keratin Associated Protein 27-1

  Search for KRTAP27-1
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 27-11 2
Keratin-Associated Protein 27-12
KAP27.13

External Ids:    HGNC: 338641   Entrez Gene: 6438122   Ensembl: ENSG000002061077   UniProtKB: Q3LI813   

Export aliases for KRTAP27-1 gene to outside databases

Previous GC identifers: GC21M030632 GC21M017118


(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 KRTAP27-1 Gene:
KRTAP27-1 (keratin associated protein 27-1) is a protein-coding gene.

UniProtKB/Swiss-Prot: KR271_HUMAN, Q3LI81
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 KRTAP27-1 gene promoter:
         Nkx3-1   TBP   Nkx3-1 v4   Pax-6   Nkx3-1 v1   Evi-1   Nkx3-1 v2   TFIID   STAT3   Nkx3-1 v3   
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRTAP27-1


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

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

KRTAP27-1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP27-1 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M031709:  view genomic region     (about GC identifiers)

Start:
31,709,331 bp from pter      End:
31,710,012 bp from pter
Size:
682 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: KR271_HUMAN, Q3LI81 (See protein sequence)
Recommended Name: Keratin-associated protein 27-1  
Size: 207 amino acids; 22345 Da
Subunit: Interacts with hair keratins (By similarity)

Explore the universe of human proteins at neXtProt for KRTAP27-1: NX_Q3LI81

Explore proteomics data for KRTAP27-1 at MOPED


See KRTAP27-1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001071179.1  
ENSEMBL proteins: 
 ENSP00000372286  

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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:
 IPR007951 KRTAP_PMG

Graphical View of Domain Structure for InterPro Entry Q3LI81

ProtoNet protein and cluster: Q3LI81

UniProtKB/Swiss-Prot: KR271_HUMAN, Q3LI81
Similarity: Belongs to the PMG family


KRTAP27-1 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: KR271_HUMAN, Q3LI81
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
extracellular2
nucleus2
cytosol1
peroxisome1

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

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

KRTAP27-1 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:

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(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 KRTAP27-1 (KR271)



(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 KRTAP27-1 gene: 
NM_001077711.1  

Unigene Cluster for KRTAP27-1:

Keratin associated protein 27-1
Hs.580881
Unigene Representative Sequence: AB096937
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000382835(uc002ynx.1)
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Additional mRNA sequence: AB096937.1 

1 DOTS entry:

DT.121130407 

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: GCACTAATCC

KRTAP27-1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KRTAP27-1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.580881
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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 KRTAP27-1 gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Krtap27-11 , 5 keratin associated protein 27-11, 5 70.79(n)1
53.47(a)1
  16 (51.39 cM)5
2399331  NM_001163105.11  NP_001156577.11 
 886710465 


ENSEMBL Gene Tree for KRTAP27-1 (if available)
TreeFam Gene Tree for KRTAP27-1 (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 KRTAP27-1 (see all 100)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs22125061,2
C,F,O,H--31708878(+) GTTGTG/TGTTCT 1 -- ds500122Minor allele frequency- T:0.13NA NS EA WA 2491
rs563634001,2
C--31708890(+) ATGTTA/GTTAAC 1 -- ds50012Minor allele frequency- G:0.10WA 120
rs749444221,2
C,F--31708964(+) GTTTGG/ATTCCA 1 -- ds50011Minor allele frequency- A:0.03NA 120
rs1474901111,2
--31709021(+) AGATCA/CAATGC 1 -- ds50010--------
rs1398528141,2
C--31709111(+) TCTTAC/TTGCTT 1 -- ds50010--------
rs757250481,2
F--31709166(+) TCCAAG/CCCCAG 1 -- ds50011Minor allele frequency- C:0.50CSA 2
rs757436491,2
C,F--31709261(+) CTAACA/GAACAC 1 -- ds50012Minor allele frequency- G:0.09CSA WA 119
rs1511156101,2
C--31709358(+) CTACAG/TATCTT 1 -- ut310--------
rs1830273341,2
C--31709394(+) CAGTAA/GCACAG 2 A V mis10--------
rs1859070891,2
C--31709395(+) AGTAAC/TACAGC 2 I V mis10--------

HapMap Linkage Disequilibrium report for KRTAP27-1 (31709331 - 31710012 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for KRTAP27-1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv834076CNV Gain17160897

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, 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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  --

(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: 643812 HGNC: 33864 Ensembl:ENSG00000206107 euGenes: HUgn643812 ECgene: KRTAP27-1
H-InvDB: KRTAP27-1

(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 KRTAP27-1 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 KRTAP27-1 gene:
Search GeneIP for patents involving KRTAP27-1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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