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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
  • Keratin-Associated Protein 5-4 3
  • 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. Diseases associated with KRTAP5-4 include Intestinal Benign Neoplasm. Among its related pathways are Keratinization and Developmental Biology.

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.

Additional gene information for KRTAP5-4 Gene

No data available for Entrez Gene Summary , CIViC 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

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

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

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

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for KRTAP5-4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 KRTAP5-4 gene
Compartment Confidence
cytosol 4
cytoskeleton 2
plasma membrane 1
extracellular 1

Gene Ontology (GO) - Cellular Components for KRTAP5-4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP5-4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP5-4 Gene

Pathways & Interactions for KRTAP5-4 Gene

SuperPathways for KRTAP5-4 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP5-4: view

Pathways by source for KRTAP5-4 Gene

2 Reactome pathways for KRTAP5-4 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP5-4: view

No data available for 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

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

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for KRTAP5-4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners 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.

Evidence on tissue expression from TISSUES for KRTAP5-4 Gene

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
rs1002216026 -- 1,623,471(+) GGGCG(C/T)GGTGG upstream-variant-2KB
rs1003213810 -- 1,623,523(+) AGAAT(A/G)GCGTG upstream-variant-2KB
rs1004262125 -- 1,623,031(+) GTGGA(A/G)CTTGC upstream-variant-2KB
rs1004374768 -- 1,623,451(+) AATAC(-/A)AAAAA upstream-variant-2KB
rs1004489764 -- 1,622,903(+) CATCC(C/T)GGCTA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv1554n54 CNV loss 21841781
esv2743947 CNV deletion 23290073
esv2761643 CNV gain 21179565
esv3579241 CNV loss 25503493
nsv1051627 CNV gain 25217958
nsv467643 CNV loss 19166990
nsv467644 CNV loss 19166990
nsv552999 CNV gain 21841781
nsv553000 CNV gain 21841781
nsv553002 CNV loss 21841781

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

Human Gene Mutation Database (HGMD)
KRTAP5-4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP5-4

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

Disorders for KRTAP5-4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRTAP5-4 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
intestinal benign neoplasm
  • intestinal tumors
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KRTAP5-4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP5-4
genes like me logo Genes that share disorders with KRTAP5-4: view

No data available for 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 (Biochemical and biophysical research communications 2004) 2 3 4 60

Products for KRTAP5-4 Gene

Sources for KRTAP5-4 Gene

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