KRTAP5-1 Gene
protein-coding GIFtS: 35
GCID: GC11M001605
|
|
keratin associated protein 5-1(Previous names: keratin, cuticle, ultrahigh sulphur 1-like ) (Previous symbol: KRN1L)
| |
Aliases for KRTAP5-1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
| This gene clusters with an RNA gene Subcategory (RNA class): lncRNA
Quality score for the ORGUL clustered with this gene is 3
| Aliases |
|---|
| Keratin Associated Protein 5-11 2 | | Keratin-Associated Protein 5.12 3 | | KRN1L1 2 3 5 | | Ultrahigh Sulfur Keratin-Associated Protein 5.12 3 | | KRTAP5.11 2 3 | | Keratin-Associated Protein 5-12 | | Keratin, Cuticle, Ultrahigh Sulphur 1-Like1 3 | | KAP5.13 |
| External Ids: | HGNC: 235961 | Entrez Gene: 3872642 | Ensembl: ENSG000002058697 | OMIM: 1480225 | UniProtKB: Q6L8H43 |
|---|
| | ORGUL members: | |
|---|
| NONCODE:n342745 | |
Export aliases for KRTAP5-1 gene to outside databasesPrevious GC identifers: GC00U913937 GC11U900626 GC11M001562 GC11M001398
Summaries for KRTAP5-1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: KRA51_HUMAN, Q6L8H4Function: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix,consisting of hair keratin-associated protein (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 KRTAP5-1 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_000011.9 NC_018922.1 NT_009237.18
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the KRTAP5-1 gene promoter: HOXA9 HOXA9B Elk-1 Meis-1b FOXL1 MEF-2A AREB6 PPAR-alpha aMEF-2 Meis-1 Other transcription factors
Search SABiosciences Chromatin IP Primers for KRTAP5-1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP5-1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 11p15.5 Ensembl cytogenetic band: 11p15.5 HGNC cytogenetic band: 11p15.5KRTAP5-1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11M001605: view genomic region
(about GC identifiers)
Start:
|
1,605,572 bp from pter |
End:
|
1,606,513 bp from pter |
Size:
|
942 bases |
Orientation:
|
minus strand |
|
Proteins for KRTAP5-1 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: KRA51_HUMAN, Q6L8H4 (See
protein sequence)Recommended Name: Keratin-associated protein 5-1 Size: 278 amino acids; 24194 Da
Subunit: Interacts with hair keratinsExplore the universe of human proteins at neXtProt for KRTAP5-1: NX_Q6L8H4
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6L8H4 KRTAP5-1 Protein expression data from MOPED and PaxDb: About this image 
 REFSEQ proteins: NP_001005922.1 ENSEMBL proteins: ENSP00000371606 Human Recombinant Protein Products for KRTAP5-1:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0045095 | keratin filament |
IEA | -- |
KRTAP5-1 for ontologies About GeneDecksing
KRTAP5-1 Antibody Products: Assay Products for KRTAP5-1: |
Protein
Domains / Families for KRTAP5-1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KRTAP5-1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q6L8H4ProtoNet protein and cluster: Q6L8H4 1 Blocks protein family: IPB001007 von Willebrand factor
UniProtKB/Swiss-Prot: KRA51_HUMAN, Q6L8H4Similarity: Belongs to the KRTAP type 5 family |
Function for KRTAP5-1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Molecular Function: UniProtKB/Swiss-Prot Summary: KRA51_HUMAN, Q6L8H4Function: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix,consisting of hair keratin-associated protein (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 keratinsAnimal Models:
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRTAP5-1 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRTAP5-1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: KRTAP5-1 (NM_001005922) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KRTAP5-1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRTAP5-1  |
|
Pathways & Interactions for KRTAP5-1 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 KRTAP5-1
|
Drugs & Compounds for KRTAP5-1 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 KRTAP5-1 Search CenterWatch for drugs/clinical trials and news about KRTAP5-1 / KRA51 
|
Transcripts for KRTAP5-1 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,
Sirion Biotech,
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 KRTAP5-1 gene: NM_001005922.1 Unigene Cluster for KRTAP5-1: Keratin associated protein 5-1 Hs.632147 Unigene Representative Sequence: AB1260701 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000382171(uc001ltu.1)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRTAP5-1 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRTAP5-1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: KRTAP5-1 (NM_001005922) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KRTAP5-1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRTAP5-1  |
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KRTAP5-1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat KRTAP5-1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRTAP5-1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRTAP5-1 |
Additional cDNA sequence: AB126070.1 2 DOTS entries: DT.102822430 DT.95202950 GeneLoc Exon Structure
|
Expression for KRTAP5-1 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
| KRTAP5-1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GCCAGGCATT
 About this image See KRTAP5-1 Protein Expression from SPIRE MOPED and PaxDB SOURCE GeneReport for Unigene cluster: Hs.632147
UniProtKB/Swiss-Prot: KRA51_HUMAN, Q6L8H4Tissue specificity: Expressed in hair root but not in skin. Expressed also in lung, pancreas, ovary, testis SABiosciences Custom PCR Arrays for KRTAP5-1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KRTAP5-1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat KRTAP5-1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRTAP5-1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRTAP5-1 |
Orthologs for KRTAP5-1 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 eukaryotes.
Orthologs for KRTAP5-1 gene from 4/10 species (see all 10) About this table
ENSEMBL Gene Tree for KRTAP5-1 (if available) TreeFam Gene Tree for KRTAP5-1 (if available)  |
Paralogs for KRTAP5-1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for KRTAP5-1 gene
- KRTAP4-42 KRTAP10-22 KRTAP9-32 KRTAP10-112 KRTAP5-102 KRTAP9-62 KRTAP4-72 KRTAP1-12
- KRTAP10-12 KRTAP5-42 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 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
KRTAP5-1 for paralogs About GeneDecksing
|
Genomic Variants for KRTAP5-1 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
|  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KRTAP5-1 |
|
Disorders
/ Diseases for KRTAP5-1 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
|
KRTAP5-1 for disorders About GeneDecksing
OMIM gene information: 148022
OMIM disorders: --
1 disease for KRTAP5-1: About MalaCardsepidermolytic hyperkeratosis Export disorders for KRTAP5-1 gene to outside databases
|
Publications for KRTAP5-1 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 KRTAP5-1 gene integrated from 9 sources: (articles sorted by number of sources associating them with KRTAP5-1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Identification of two novel clusters of ultrahigh-sulfur keratin- associated protein genes on human chromosome 11. (PubMed id 15144888)1, 2, 3 Yahagi S....Shimizu N. (2004)
- Runx1 transcription factor is involved in the regulation of KAP5 gene expression in human hair follicles. (PubMed id 16442267)1 Soma T....Kishimoto J. (2006)
- Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients. (PubMed id 12234709)1 Sun X.K....Zhu X.J. (2002)
|
External Searches for KRTAP5-1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing KRTAP5-1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KRTAP5-1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KRTAP5-1 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 KRTAP5-1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for KRTAP5-1 gene: Search GeneIP for patents involving KRTAP5-1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for KRTAP5-1 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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory) About This Section
|
 | |
 | |
 |
| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for KRTAP5-1 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KRTAP5-1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KRTAP5-1 | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for KRTAP5-1 | | Browse 3'-UTR reporter clones for miRNA target validation | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRTAP5-1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRTAP5-1 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for KRTAP5-1 | | OriGene Custom Protein Services for KRTAP5-1 | | OriGene Custom Immunoassay Development | | |
| |  |
 |
| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KRTAP5-1 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KRTAP5-1 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP5-1 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRTAP5-1 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRTAP5-1 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRTAP5-1 |
| |
 |  |  |  | |
| | | |  |  |  |  | | | | |
 |
 |
 |
 | | KRTAP5-1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  |  | | | Search ThermoFisher Antibodies for KRTAP5-1 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRTAP5-1 |
| |  | |
|
|
|
GeneCards Homepage -
Last full update: 18 Mar 2013 -
Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013
View Random Gene
|
Category
|
|
|
von Willebrand factor
|
| GIFtS Group |
|
Developed at the Crown Human Genome Center,
Department of Molecular Genetics,
the Weizmann Institute of Science
Copyright © 1996-2013
, Weizmann Institute of Science. All Rights Reserved.
hostname: 356980-web2.xennexinc.com
index build: 106 solr: 1.4
|