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Aliases for KRTAP5-4 Gene

Aliases for KRTAP5-4 Gene

  • Keratin Associated Protein 5-4 2 3 5
  • Ultrahigh Sulfur Keratin-Associated Protein 5.4 3 4
  • Keratin-Associated Protein 5.4 3 4
  • KRTAP5.4 3 4
  • KAP5.4 4

External Ids for KRTAP5-4 Gene

Previous GeneCards Identifiers for KRTAP5-4 Gene

  • GC00U913940
  • GC11U900659
  • GC11M001586
  • GC11M001642
  • GC11M001406
  • GC11M001606
  • GC11M001620

Summaries for KRTAP5-4 Gene

GeneCards Summary for KRTAP5-4 Gene

KRTAP5-4 (Keratin Associated Protein 5-4) is a Protein Coding gene.

UniProtKB/Swiss-Prot for KRTAP5-4 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 KRTAP5-4 Gene

Genomics for KRTAP5-4 Gene

Regulatory Elements for KRTAP5-4 Gene

Genomic Location for KRTAP5-4 Gene

Chromosome:
11
Start:
97,515 bp from pter
End:
98,873 bp from pter
Size:
1,359 bases
Orientation:
Minus strand

Genomic View for KRTAP5-4 Gene

Genes around KRTAP5-4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for KRTAP5-4 Gene

Proteins for KRTAP5-4 Gene

  • Protein details for KRTAP5-4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6L8H1-KRA54_HUMAN
    Recommended name:
    Keratin-associated protein 5-4
    Protein Accession:
    Q6L8H1

    Protein attributes for KRTAP5-4 Gene

    Size:
    288 amino acids
    Molecular mass:
    25249 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP5-4 Gene

Proteomics data for KRTAP5-4 Gene at MOPED

Post-translational modifications for KRTAP5-4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP5-4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP5-4 Gene

Domains & Families for KRTAP5-4 Gene

Gene Families for KRTAP5-4 Gene

Protein Domains for KRTAP5-4 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP5-4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6L8H1

UniProtKB/Swiss-Prot:

KRA54_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 KRTAP5-4: view

Function for KRTAP5-4 Gene

Molecular function for KRTAP5-4 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.

Phenotypes for KRTAP5-4 Gene

genes like me logo Genes that share phenotypes with KRTAP5-4: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP5-4 Gene

Localization for KRTAP5-4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP5-4 Gene COMPARTMENTS Subcellular localization image for KRTAP5-4 gene
Compartment Confidence
cytoskeleton 2
extracellular 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KRTAP5-4 Gene

Pathways & Interactions for KRTAP5-4 Gene

SuperPathways for KRTAP5-4 Gene

No Data Available

Interacting Proteins for KRTAP5-4 Gene

Gene Ontology (GO) - Biological Process for KRTAP5-4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KRTAP5-4 Gene

Drugs & Compounds for KRTAP5-4 Gene

No Compound Related Data Available

Transcripts for KRTAP5-4 Gene

mRNA/cDNA for KRTAP5-4 Gene

(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP5-4 Gene

No ASD Table

Relevant External Links for KRTAP5-4 Gene

GeneLoc Exon Structure for
KRTAP5-4
ECgene alternative splicing isoforms for
KRTAP5-4

Expression for KRTAP5-4 Gene

mRNA expression in normal human tissues for KRTAP5-4 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP5-4 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x46.9).

Protein differential expression in normal tissues from HIPED for KRTAP5-4 Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRTAP5-4 Gene



SOURCE GeneReport for Unigene cluster for KRTAP5-4 Gene Hs.539087

mRNA Expression by UniProt/SwissProt for KRTAP5-4 Gene

Q6L8H1-KRA54_HUMAN
Tissue specificity: Restricted to hair root, not detected in any other tissues.
genes like me logo Genes that share expression patterns with KRTAP5-4: view

Protein tissue co-expression partners for KRTAP5-4 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for KRTAP5-4 Gene

Orthologs for KRTAP5-4 Gene

Evolution for KRTAP5-4 Gene

ENSEMBL:
Gene Tree for KRTAP5-4 (if available)
TreeFam:
Gene Tree for KRTAP5-4 (if available)

No data available for Orthologs for KRTAP5-4 Gene

Paralogs for KRTAP5-4 Gene

No data available for Paralogs for KRTAP5-4 Gene

Variants for KRTAP5-4 Gene

Sequence variations from dbSNP and Humsavar for KRTAP5-4 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1686789 -- 1,621,852(-) GGGCT(A/G)TGGCT reference, missense
rs1715357 -- 1,621,845(-) GGCTC(C/T)TGTGG reference, synonymous-codon
rs2451389 -- 1,623,954(-) TCGCA(C/G)GGCTG upstream-variant-2KB
rs2451390 -- 1,623,885(-) AGTGT(C/G)CCCAT upstream-variant-2KB
rs2460459 -- 1,623,959(-) GCCTC(G/T)CGCAG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KRTAP5-4 Gene

Variant ID Type Subtype PubMed ID
dgv968n71 CNV Loss 21882294
dgv979n71 CNV Loss 21882294
dgv980n71 CNV Loss 21882294
nsv467643 CNV Loss 19166990
dgv981n71 CNV Loss 21882294
nsv467644 CNV Loss 19166990
esv2743947 CNV Deletion 23290073

Variation tolerance for KRTAP5-4 Gene

Gene Damage Index Score: 3.76; 57.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP5-4 Gene

HapMap Linkage Disequilibrium report
KRTAP5-4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP5-4 Gene

Disorders for KRTAP5-4 Gene

Relevant External Links for KRTAP5-4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP5-4

No disorders were found for KRTAP5-4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP5-4 Gene

Publications for KRTAP5-4 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 67

Products for KRTAP5-4 Gene

Sources for KRTAP5-4 Gene

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