Aliases for KRTAP5-8 Gene

Aliases for KRTAP5-8 Gene

  • Keratin Associated Protein 5-8 2 3 5
  • KRTAP5.8 2 3 4
  • Ultrahigh Sulfur Keratin-Associated Protein 5.8 3 4
  • Keratin, Ultra High-Sulfur Matrix Protein B 3 4
  • Keratin-Associated Protein 5-8 3 4
  • Keratin-Associated Protein 5.8 3 4
  • UHS Keratin B 3 4
  • KRTAP5-2 2 3
  • UHS KerB 3 4
  • UHSKerB 2 3
  • Keratin, Ultrahigh Sulfur, B 3
  • UHS KERB-Like Protein 3
  • KRTAP5-8 5
  • KAP5.8 4
  • UHSKB 4

External Ids for KRTAP5-8 Gene

Previous GeneCards Identifiers for KRTAP5-8 Gene

  • GC00U913944
  • GC11P070918
  • GC11M001587
  • GC11P070927
  • GC11P071249
  • GC11P067542
  • GC11P071529

Summaries for KRTAP5-8 Gene

GeneCards Summary for KRTAP5-8 Gene

KRTAP5-8 (Keratin Associated Protein 5-8) is a Protein Coding gene. Diseases associated with KRTAP5-8 include Benign Epilepsy With Centrotemporal Spikes. Among its related pathways are Developmental Biology and Keratinization. Gene Ontology (GO) annotations related to this gene include structural constituent of epidermis. An important paralog of this gene is KRTAP5-5.

UniProtKB/Swiss-Prot Summary for KRTAP5-8 Gene

  • 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 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.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP5-8 Gene

Genomics for KRTAP5-8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRTAP5-8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J071420 Enhancer 1 Ensembl ENCODE dbSUPER 5.9 -117.3 -117349 0.6 ZNF654 IKZF1 CTCF REST TRIM22 RXRA RAD21 SMC3 PRDM10 HNF4A KRTAP5-8 ACTE1P DHCR7 HSALNG0085468 SHANK2
GH11J071487 Enhancer 0.9 Ensembl ENCODE 5.6 -49.0 -48998 2.7 IKZF1 JUND MBD2 CTBP1 ZNF217 SMARCE1 PKNOX1 BATF ZEB2 HDGF ENSG00000254682 NADSYN1 DHCR7 KRTAP5-9 KRTAP5-8 HSALNG0085476 lnc-DHCR7-1 KRTAP5-7
GH11J070760 Enhancer 0.9 Ensembl ENCODE 5.2 -777.5 -777479 1.3 ZBTB7B ZNF217 CTBP1 SMARCE1 DPF2 RAD51 TOE1 NFIB NCOA3 CREB1 KRTAP5-8 HSALNG0085445 HSALNG0085446 CTTN SHANK2
GH11J071565 Enhancer 0.6 Ensembl 4.8 +29.6 29575 4.4 ZNF217 ELF1 CTBP1 SIN3A SMARCE1 PKNOX1 FOXA1 DPF2 NFIB GLIS1 ENSG00000248903 ENSG00000286948 KRTAP5-13P lnc-KRTAP5-10-1 KRTAP5-9 KRTAP5-8 HSALNG0085481-002 KRTAP5-10 KRTAP5-11
GH11J071401 Enhancer 0.2 dbSUPER 5.9 -136.3 -136253 0.8 NADSYN1 KRTAP5-8 HSALNG0085468 ACTE1P DHCR7 SHANK2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP5-8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP5-8

Top Transcription factor binding sites by QIAGEN in the KRTAP5-8 gene promoter:
  • aMEF-2
  • AREB6
  • E47
  • MEF-2
  • MEF-2A
  • PPAR-alpha
  • RSRFC4
  • Spz1
  • Tal-1beta

Genomic Locations for KRTAP5-8 Gene

Latest Assembly
chr11:71,538,025-71,539,209
(GRCh38/hg38)
Size:
1,185 bases
Orientation:
Plus strand

Previous Assembly
chr11:71,249,071-71,250,255
(GRCh37/hg19 by Entrez Gene)
Size:
1,185 bases
Orientation:
Plus strand

chr11:71,249,071-71,250,253
(GRCh37/hg19 by Ensembl)
Size:
1,183 bases
Orientation:
Plus strand

Genomic View for KRTAP5-8 Gene

Genes around KRTAP5-8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP5-8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP5-8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP5-8 Gene

Proteins for KRTAP5-8 Gene

  • Protein details for KRTAP5-8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75690-KRA58_HUMAN
    Recommended name:
    Keratin-associated protein 5-8
    Protein Accession:
    O75690
    Secondary Accessions:
    • Q6L8G7
    • Q6UTX6

    Protein attributes for KRTAP5-8 Gene

    Size:
    187 amino acids
    Molecular mass:
    17519 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KRTAP5-8 Gene

Post-translational modifications for KRTAP5-8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP5-8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP5-8 Gene

Domains & Families for KRTAP5-8 Gene

Gene Families for KRTAP5-8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KRTAP5-8 Gene

InterPro:
Blocks:
  • von Willebrand factor, type C

Suggested Antigen Peptide Sequences for KRTAP5-8 Gene

GenScript: Design optimal peptide antigens:
  • Ultrahigh sulfur keratin-associated protein 5.8 (KRA58_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75690

UniProtKB/Swiss-Prot:

KRA58_HUMAN :
  • Belongs to the KRTAP type 5 family.
Family:
  • Belongs to the KRTAP type 5 family.
genes like me logo Genes that share domains with KRTAP5-8: view

Function for KRTAP5-8 Gene

Molecular function for KRTAP5-8 Gene

UniProtKB/Swiss-Prot Function:
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 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.

Gene Ontology (GO) - Molecular Function for KRTAP5-8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0030280 structural constituent of epidermis NAS 10023043
genes like me logo Genes that share ontologies with KRTAP5-8: view
genes like me logo Genes that share phenotypes with KRTAP5-8: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP5-8

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP5-8 Gene

Localization for KRTAP5-8 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRTAP5-8 gene
Compartment Confidence
cytosol 4
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for KRTAP5-8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP5-8: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP5-8 Gene

Pathways & Interactions for KRTAP5-8 Gene

PathCards logo

SuperPathways for KRTAP5-8 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP5-8: view

Pathways by source for KRTAP5-8 Gene

2 Reactome pathways for KRTAP5-8 Gene

Gene Ontology (GO) - Biological Process for KRTAP5-8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP5-8: view

No data available for SIGNOR curated interactions for KRTAP5-8 Gene

Drugs & Compounds for KRTAP5-8 Gene

No Compound Related Data Available

Transcripts for KRTAP5-8 Gene

mRNA/cDNA for KRTAP5-8 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP5-8

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP5-8 Gene

No ASD Table

Relevant External Links for KRTAP5-8 Gene

GeneLoc Exon Structure for
KRTAP5-8

Expression for KRTAP5-8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP5-8 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP5-8 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x32.9).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP5-8

SOURCE GeneReport for Unigene cluster for KRTAP5-8 Gene:

Hs.445245

mRNA Expression by UniProt/SwissProt for KRTAP5-8 Gene:

O75690-KRA58_HUMAN
Tissue specificity: Restricted to hair root, not detected in any other tissues. Expressed in cuticle layers of differentiating hair follicles.

Evidence on tissue expression from TISSUES for KRTAP5-8 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP5-8: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP5-8 Gene

Orthologs for KRTAP5-8 Gene

Evolution for KRTAP5-8 Gene

ENSEMBL:
Gene Tree for KRTAP5-8 (if available)
TreeFam:
Gene Tree for KRTAP5-8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP5-8: view image
Alliance of Genome Resources:
Additional Orthologs for KRTAP5-8

No data available for Orthologs for KRTAP5-8 Gene

Paralogs for KRTAP5-8 Gene

Variants for KRTAP5-8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP5-8 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs55921335 -- p.Cys28Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRTAP5-8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KRTAP5-8 Gene

Variant ID Type Subtype PubMed ID
esv2744750 CNV deletion 23290073
esv2744751 CNV deletion 23290073
esv3626779 CNV loss 21293372
esv3626780 CNV gain 21293372
esv3626781 CNV gain 21293372
esv3626782 CNV gain 21293372
nsv555402 CNV gain 21841781

Variation tolerance for KRTAP5-8 Gene

Residual Variation Intolerance Score: 90.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.26; 98.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP5-8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP5-8
Leiden Open Variation Database (LOVD)
KRTAP5-8

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP5-8 Gene

Disorders for KRTAP5-8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRTAP5-8 Gene - From: COP

Disorder Aliases PubMed IDs
benign epilepsy with centrotemporal spikes
  • bcects
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KRTAP5-8

genes like me logo Genes that share disorders with KRTAP5-8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTAP5-8 Gene

Publications for KRTAP5-8 Gene

  1. Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11. (PMID: 15144888) Yahagi S … Shimizu N (Biochemical and biophysical research communications 2004) 2 3 4
  2. Genomic organization and promoter characterization of two human UHS keratin genes. (PMID: 10023043) Perez C … Egly JM (Gene 1999) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for KRTAP5-8 Gene

Sources for KRTAP5-8 Gene