KRTAP1-1 Gene
protein-coding GIFtS: 43
GCID: GC17M039196
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|
keratin associated protein 1-1
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Aliases
for KRTAP1-1 gene
(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 1-11 2 | | Keratin-Associated Protein 1.62 3 | | KAP1.11 2 3 5 | | Keratin-Associated Protein 1.72 3 | | KAP1.62 3 5 | | KRTAP1.12 3 | | KAP1.72 3 5 | | KRTAP1A2 | | HB2A1 2 | | HKAP1.71 | | KAP1.1A1 2 | | Keratin Associated Protein 1.72 | | KAP1.1B1 2 | | Keratin Associated Protein 1A2 | | High Sulfur Keratin-Associated Protein 1.12 3 | | Keratin-Associated Protein 1-12 | | Keratin-Associated Protein 1.12 3 | | B2A3 |
Export aliases for KRTAP1-1 gene to outside databasesPrevious GC identifers: GC17M038698 GC17M041372 GC17M039105 GC17M039569 GC17M036452 GC17M034991 |
Summaries
for KRTAP1-1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for KRTAP1-1:
This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratinintermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique,family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according toamino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is amember of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. (provided by RefSeq,Jul 2008)
UniProtKB/Swiss-Prot: KRA11_HUMAN, Q07627Function: 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 resistanthair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. Thematrix proteins include the high-sulfur and high-glycine-tyrosine keratins
|
Genomic Views
for KRTAP1-1 gene
(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
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010783.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the KRTAP1-1 gene promoter:
AhR HEN1 AML1a c-Myb E47 Arnt FOXL1
Other transcription factors
Search SABiosciences Chromatin IP Primers for KRTAP1-1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP1-1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q12 Ensembl cytogenetic band: 17q21.2 HGNC cytogenetic band: 17q21.2KRTAP1-1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M039196: view genomic region
(about GC identifiers)
Start:
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39,196,811 bp from pter |
End:
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39,197,713 bp from pter |
Size:
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903 bases |
Orientation:
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minus strand |
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Proteins
for KRTAP1-1 gene
(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: KRA11_HUMAN, Q07627 (See
protein sequence)Recommended Name: Keratin-associated protein 1-1 Size: 177 amino acids; 18235 Da
Subunit: Interacts with hair keratins (By similarity)
Secondary accessions: A6NC32 Q96S60 Q96S67Explore the universe of human proteins at neXtProt for KRTAP1-1: NX_Q07627
KRTAP1-1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_112229.1
ENSEMBL proteins: ENSP00000305975
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005576 | extracellular region |
NAS | -- | | GO:0045095 | keratin filament |
IEA | -- |
KRTAP1-1 for ontologies About GeneDecksing
KRTAP1-1 Antibody Products:
Assay Products for KRTAP1-1: |
Protein
Domains /
Families
for KRTAP1-1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KRTAP1-1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q07627ProtoNet protein and cluster: Q07627 UniProtKB/Swiss-Prot: KRA11_HUMAN, Q07627Similarity: Belongs to the KRTAP type 1 family |
Function
for KRTAP1-1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: KRA11_HUMAN, Q07627Function: 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 resistanthair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. Thematrix proteins include the high-sulfur and high-glycine-tyrosine keratins
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRTAP1-1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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1 GenomeRNAi human phenotype for KRTAP1-1:
|
Pathways & Interactions
for KRTAP1-1 gene
(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 KRTAP1-1
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008150 | biological_process |
ND | -- |
KRTAP1-1 for ontologies About GeneDecksing
|
Drugs & Compounds
for KRTAP1-1 gene(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 Tocris compounds for KRTAP1-1
Search CenterWatch for drugs/clinical trials and news about KRTAP1-1 / KRA11
|
Transcripts
for KRTAP1-1 gene(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,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for KRTAP1-1 gene: NM_030967.2 Unigene Cluster for KRTAP1-1: Keratin associated protein 1-1 Hs.247934 Unigene Representative Sequence: NM_0309671 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000306271(uc002hvw.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRTAP1-1
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRTAP1-1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: KRTAP1-1 (NM_030967) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KRTAP1-1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRTAP1-1 |
Additional cDNA sequence: AB052868.1 AB052934.1 AB055057.1 AJ406926.1 BC069321.1 BC069450.1 BC105069.1 BC105071.1 1 DOTS entry: DT.91673281 3 AceView cDNA sequences: AB052934 AB055057 AB052868
GeneLoc Exon Structure
|
Expression
for KRTAP1-1 gene
(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
| KRTAP1-1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCTGCTGCC
About this image
See KRTAP1-1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KRTAP1-1
SOURCE GeneReport for Unigene cluster: Hs.247934
UniProtKB/Swiss-Prot: KRA11_HUMAN, Q07627Tissue specificity: Expressed in the middle/upper portions of the hair cortex, in the region termed the keratogenouszone
SABiosciences Custom PCR Arrays for KRTAP1-1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KRTAP1-1
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat KRTAP1-1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRTAP1-1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRTAP1-1 |
Orthologs
for KRTAP1-1 gene
(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 human and mouse.
Orthologs for KRTAP1-1 gene from 1/3 species (see all 3) About this table
ENSEMBL Gene Tree for KRTAP1-1 (if available)
TreeFam Gene Tree for KRTAP1-1 (if available) |
Paralogs
for KRTAP1-1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for KRTAP1-1 gene
- KRTAP4-42 KRTAP10-22 KRTAP9-32 KRTAP10-112 KRTAP5-102 KRTAP9-62 KRTAP4-72 KRTAP5-42
- KRTAP10-12 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 KRTAP4-82
- KRTAP10-52 KRTAP12-12 KRTAP5-82 KRTAP2-32 KRTAP9-82 KRTAP4-62 KRTAP10-42 KRTAP4-32
3 SIMAP similar genes for KRTAP1-1 using alignment to 1 protein entry: KRA11_HUMAN:KRTAP1-3 KRTAP1-4 KRTAP1-5
KRTAP1-1 for paralogs About GeneDecksing
|
Genomic Variants
for KRTAP1-1 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KRTAP1-1 (39196811 - 39197713 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for KRTAP1-1
1 CNV: 102455
1 Indel: 45542
Human Gene Mutation Database (HGMD): KRTAP1-1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KRTAP1-1 |
|
Disorders
/ Diseases
for KRTAP1-1 gene
(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
|
KRTAP1-1 for disorders About GeneDecksing
OMIM gene information: 608819
OMIM disorders: --
3  diseases for KRTAP1-1: About MalaCardscommon cold choroiditis choroid cancer
1 disease from the University of Copenhagen DISEASES database for KRTAP1-1:Choroid cancer Export disorders for KRTAP1-1 gene to outside databases
|
Publications
for KRTAP1-1 gene (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 KRTAP1-1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KRTAP1-1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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, 2, 3 Rogers M.A....Schweizer J. (2001)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- hKAP1.6 and hKAP1.7, two novel human high sulfur keratin-associated proteins are expressed in the hair follicle cortex. (PubMed id 11841537)1, 2 Shimomura Y.... Ito M. (2002)
- Polymorphisms in the human high sulfur hair keratin-associated protein 1, KAP1, gene family. (PubMed id 12228244)1, 2 Shimomura Y.... Ito M. (2002)
- DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
- 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. (2002)
- Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
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External Searches for KRTAP1-1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing KRTAP1-1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KRTAP1-1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KRTAP1-1 gene(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
|
| Name | Description |
| PharmGKB entry for KRTAP1-1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for KRTAP1-1 gene:
Search GeneIP for patents involving KRTAP1-1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KRTAP1-1 gene(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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, 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
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KRTAP1-1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KRTAP1-1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP1-1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRTAP1-1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRTAP1-1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRTAP1-1 |
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 | | | KRTAP1-1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | | Search ThermoFisher Antibodies for KRTAP1-1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRTAP1-1 |
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