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Aliases for KRTAP5-8 Gene

Aliases for KRTAP5-8 Gene

  • Keratin Associated Protein 5-8 2 3 5
  • 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
  • UHS Keratin B 3 4
  • KRTAP5.8 3 4
  • UHS KerB 3 4
  • Keratin-Associated Protein 5-8 3
  • Keratin, Ultrahigh Sulfur, B 3
  • UHS KERB-Like Protein 3
  • KRTAP5-2 3
  • UHSKerB 3
  • 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. GO annotations related to this gene include structural constituent of epidermis.

UniProtKB/Swiss-Prot 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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP5-8 Gene

Genomics for KRTAP5-8 Gene

Regulatory Elements for KRTAP5-8 Gene

Enhancers for KRTAP5-8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

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

Genomic Location for KRTAP5-8 Gene

Chromosome:
11
Start:
71,538,025 bp from pter
End:
71,539,207 bp from pter
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

Protein Domains for KRTAP5-8 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP5-8 Gene

GenScript: Design optimal peptide antigens:

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: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 Model Products

CRISPR Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for KRTAP5-8 Gene COMPARTMENTS Subcellular localization image for KRTAP5-8 gene
Compartment Confidence
extracellular 3
cytoskeleton 2
cytosol 1
mitochondrion 1
nucleus 1

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

GO ID Qualified GO term Evidence PubMed IDs
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 for KRTAP5-8 Gene

Pathways & Interactions for KRTAP5-8 Gene

SuperPathways for KRTAP5-8 Gene

No Data Available

Interacting Proteins for KRTAP5-8 Gene

Selected Interacting proteins: O75690-KRA58_HUMAN for KRTAP5-8 Gene via IID

Symbol External ID(s) Details
COL9A1

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

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

No data available for Pathways by source and 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 :
(3) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KRTAP5-8 Gene

Keratin associated protein 5-8:
Representative Sequences:

CRISPR Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
KRTAP5-8

Expression for KRTAP5-8 Gene

mRNA expression in normal human tissues 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).

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.
genes like me logo Genes that share expression patterns with KRTAP5-8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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)

No data available for Orthologs for KRTAP5-8 Gene

Paralogs for KRTAP5-8 Gene

No data available for Paralogs for KRTAP5-8 Gene

Variants for KRTAP5-8 Gene

Sequence variations from dbSNP and Humsavar for KRTAP5-8 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs55921335 - 71,538,137(+) CTAGC(C/T)GCTGT reference, missense
rs34533010 -- 71,539,658(+) TACCA(-/G)GGGGC downstream-variant-500B
rs35686148 -- 71,536,470(+) GTCTC(-/A)AAAAA upstream-variant-2KB
rs36028680 -- 71,536,470(+) GTCTC(-/AA)AAAAA upstream-variant-2KB
rs150454341 -- 71,537,861(+) ATGGC(A/G)GCTCA upstream-variant-2KB

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)

Relevant External Links for KRTAP5-8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP5-8

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

Disorders for KRTAP5-8 Gene

Relevant External Links for KRTAP5-8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP5-8

No disorders were found for KRTAP5-8 Gene.

No data available for MalaCards , 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. (Biochem. Biophys. Res. Commun. 2004) 2 3 4 65
  2. Genomic organization and promoter characterization of two human UHS keratin genes. (PMID: 10023043) Perez C. … Egly J.-M. (Gene 1999) 3 4 65

Products for KRTAP5-8 Gene

Sources for KRTAP5-8 Gene

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