KRTAP4-8 Gene
protein-coding GIFtS: 34
GCID: GC17M039253 (predicted)
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keratin associated protein 4-8
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Aliases
for KRTAP4-8 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 4-81 2 | | KRTAP4.82 3 | | KAP4.81 2 3 | | Keratin Associated Protein 4.82 | | Keratin-Associated Protein 4.82 3 | | Keratin-Associated Protein 4-82 | | Ultrahigh Sulfur Keratin-Associated Protein 4.82 3 | | |
Export aliases for KRTAP4-8 gene to outside databasesPrevious GC identifers: GC17U990249 GC17M039626 GC17M036527 GC17P036494 GC17M036507 |
Summaries
for KRTAP4-8 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: KRA48_HUMAN, Q9BYQ9Function: 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 KRTAP4-8 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 KRTAP4-8 gene promoter:
Max1 AML1a FOXC1 Sp1 MyoD Nkx2-5
Other transcription factors
Search SABiosciences Chromatin IP Primers for KRTAP4-8
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP4-8 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q21.2 Ensembl cytogenetic band: 17q21.2 HGNC cytogenetic band: 17q12-q21KRTAP4-8 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 GC17M039253: view genomic region
(about GC identifiers)
Start:
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39,253,233 bp from pter |
End:
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39,254,393 bp from pter |
Size:
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1,161 bases |
Orientation:
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minus strand |
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Proteins
for KRTAP4-8 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: KRA48_HUMAN, Q9BYQ9 (See
protein sequence)Recommended Name: Keratin-associated protein 4-8 Size: 185 amino acids; 19627 Da
Subunit: Interacts with hair keratins
Miscellaneous: The sequence shown corresponds to allele KAP4.8-v1
Secondary accessions: A8MSH3Explore the universe of human proteins at neXtProt for KRTAP4-8: NX_Q9BYQ9
KRTAP4-8 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_114166.1
ENSEMBL proteins: ENSP00000328444
Human Recombinant Protein Products:
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 | -- |
KRTAP4-8 for ontologies About GeneDecksing
KRTAP4-8 Antibody Products:
Assay Products for KRTAP4-8: |
Protein
Domains /
Families
for KRTAP4-8 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KRTAP4-8 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9BYQ9ProtoNet protein and cluster: Q9BYQ9 1 Blocks protein family: IPB001368 TNFR/CD27/30/40/95 cysteine-rich region
UniProtKB/Swiss-Prot: KRA48_HUMAN, Q9BYQ9Similarity: Belongs to the KRTAP type 4 family |
Function
for KRTAP4-8 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: KRA48_HUMAN, Q9BYQ9Function: 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
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 KRTAP4-8
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRTAP4-8
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: KRTAP4-8 (NM_031960) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KRTAP4-8 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat KRTAP4-8 |
|
Pathways & Interactions
for KRTAP4-8 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 KRTAP4-8
|
Drugs & Compounds
for KRTAP4-8 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 KRTAP4-8
Search CenterWatch for drugs/clinical trials and news about KRTAP4-8 / KRA48
|
Transcripts
for KRTAP4-8 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 KRTAP4-8 gene: NM_031960.2 Unigene Cluster for KRTAP4-8: Keratin associated protein 4-8 Hs.307019 Unigene Representative Sequence: NM_0319601 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000333822(uc010wfo.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRTAP4-8
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRTAP4-8
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: KRTAP4-8 (NM_031960) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KRTAP4-8 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat KRTAP4-8 |
Additional cDNA sequence: AJ406940.1
GeneLoc Exon Structure
|
Expression
for KRTAP4-8 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
| KRTAP4-8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCACCAAATA
About this image
See KRTAP4-8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KRTAP4-8
SOURCE GeneReport for Unigene cluster: Hs.307019
UniProtKB/Swiss-Prot: KRA48_HUMAN, Q9BYQ9Tissue specificity: Expressed in the hair follicles
SABiosciences Custom PCR Arrays for KRTAP4-8
Primer
Products: | | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat KRTAP4-8 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRTAP4-8 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRTAP4-8 |
Orthologs
for KRTAP4-8 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 KRTAP4-8 gene from 4/11 species (see all 11) About this table
ENSEMBL Gene Tree for KRTAP4-8 (if available)
TreeFam Gene Tree for KRTAP4-8 (if available) |
Paralogs
for KRTAP4-8 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for KRTAP4-8 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 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
- KRTAP10-52 KRTAP12-12 KRTAP5-82 KRTAP2-32 KRTAP9-82 KRTAP4-62 KRTAP10-42 KRTAP4-32
11 SIMAP similar genes for KRTAP4-8 using alignment to 2 protein entries: KRA48_HUMAN (see all proteins):KRTAP4-11 KRTAP4-7 KRTAP4-5 KRTAP4-9 KRTAP4-6 KRTAP4-4
KRTAP4-16P KRTAP4-3 KRTAP4-12 KRTAP4-2 KRTAP4-1
KRTAP4-8 for paralogs About GeneDecksing
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Genomic Variants
for KRTAP4-8 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
|
UniProtKB/Swiss-Prot: KRA48_HUMAN, Q9BYQ9Polymorphism: Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in thesequence encoding cysteine-rich repeat segments
| 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 KRTAP4-8 (39253233 - 39254393 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for KRTAP4-8
1 CNV: 67194
Human Gene Mutation Database (HGMD): KRTAP4-8
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KRTAP4-8 |
|
Disorders
/ Diseases
for KRTAP4-8 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
|
KRTAP4-8 for disorders About GeneDecksing
1  disease for KRTAP4-8: About MalaCardsfraser syndrome
Export disorders for KRTAP4-8 gene to outside databases
|
Publications
for KRTAP4-8 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 KRTAP4-8 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KRTAP4-8) | |  | 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)
- DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)1, 2 Zody M.C.... Nusbaum C. (2006)
- Size polymorphisms in the human ultrahigh sulfur hair keratin- associated protein 4, KAP4, gene family. (PubMed id 15955084)2 Kariya N.... Ito M. (2005)
- The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)
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External Searches for KRTAP4-8 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing KRTAP4-8 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KRTAP4-8 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KRTAP4-8 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 KRTAP4-8 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for KRTAP4-8 gene:
Search GeneIP for patents involving KRTAP4-8
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KRTAP4-8 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 KRTAP4-8 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KRTAP4-8 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP4-8 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRTAP4-8 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRTAP4-8 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRTAP4-8 |
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 | | | KRTAP4-8 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | | Search ThermoFisher Antibodies for KRTAP4-8 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat KRTAP4-8 |
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