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Aliases for KRTAP5-6 Gene

Aliases for KRTAP5-6 Gene

  • Keratin Associated Protein 5-6 2 3 5
  • Ultrahigh Sulfur Keratin-Associated Protein 5.6 3 4
  • Keratin-Associated Protein 5.6 3 4
  • KRTAP5.6 3 4
  • KAP5.6 4

External Ids for KRTAP5-6 Gene

Previous GeneCards Identifiers for KRTAP5-6 Gene

  • GC00U913941
  • GC11P001675
  • GC11P001509

Summaries for KRTAP5-6 Gene

GeneCards Summary for KRTAP5-6 Gene

KRTAP5-6 (Keratin Associated Protein 5-6) is a Protein Coding gene.

UniProtKB/Swiss-Prot for KRTAP5-6 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 KRTAP5-6 Gene

Genomics for KRTAP5-6 Gene

Regulatory Elements for KRTAP5-6 Gene

Enhancers for KRTAP5-6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KRTAP5-6 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP5-6 Gene

Chromosome:
11
Start:
1,697,195 bp from pter
End:
1,697,755 bp from pter
Size:
561 bases
Orientation:
Plus strand

Genomic View for KRTAP5-6 Gene

Genes around KRTAP5-6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP5-6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP5-6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP5-6 Gene

Proteins for KRTAP5-6 Gene

  • Protein details for KRTAP5-6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6L8G9-KRA56_HUMAN
    Recommended name:
    Keratin-associated protein 5-6
    Protein Accession:
    Q6L8G9
    Secondary Accessions:
    • A1L452

    Protein attributes for KRTAP5-6 Gene

    Size:
    129 amino acids
    Molecular mass:
    11784 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP5-6 Gene

Proteomics data for KRTAP5-6 Gene at MOPED

Post-translational modifications for KRTAP5-6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP5-6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP5-6 Gene

Domains & Families for KRTAP5-6 Gene

Gene Families for KRTAP5-6 Gene

Protein Domains for KRTAP5-6 Gene

Suggested Antigen Peptide Sequences for KRTAP5-6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6L8G9

UniProtKB/Swiss-Prot:

KRA56_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 KRTAP5-6: view

Function for KRTAP5-6 Gene

Molecular function for KRTAP5-6 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 KRTAP5-6: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP5-6 Gene

Localization for KRTAP5-6 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP5-6 Gene COMPARTMENTS Subcellular localization image for KRTAP5-6 gene
Compartment Confidence
cytoskeleton 3
extracellular 3
cytosol 1
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KRTAP5-6 Gene

Pathways & Interactions for KRTAP5-6 Gene

SuperPathways for KRTAP5-6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KRTAP5-6 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KRTAP5-6 Gene

Drugs & Compounds for KRTAP5-6 Gene

No Compound Related Data Available

Transcripts for KRTAP5-6 Gene

mRNA/cDNA for KRTAP5-6 Gene

(1) REFSEQ mRNAs :
(1) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP5-6 Gene

No ASD Table

Relevant External Links for KRTAP5-6 Gene

GeneLoc Exon Structure for
KRTAP5-6
ECgene alternative splicing isoforms for
KRTAP5-6

Expression for KRTAP5-6 Gene

mRNA expression in normal human tissues for KRTAP5-6 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP5-6 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x33.7) and Liver (x13.0).

SOURCE GeneReport for Unigene cluster for KRTAP5-6 Gene Hs.534863

mRNA Expression by UniProt/SwissProt for KRTAP5-6 Gene

Q6L8G9-KRA56_HUMAN
Tissue specificity: Expressed in hair root and not in skin. Expressed also in liver and skeletal muscle.
genes like me logo Genes that share expression patterns with KRTAP5-6: 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 KRTAP5-6 Gene

Orthologs for KRTAP5-6 Gene

Evolution for KRTAP5-6 Gene

ENSEMBL:
Gene Tree for KRTAP5-6 (if available)
TreeFam:
Gene Tree for KRTAP5-6 (if available)

No data available for Orthologs for KRTAP5-6 Gene

Paralogs for KRTAP5-6 Gene

No data available for Paralogs for KRTAP5-6 Gene

Variants for KRTAP5-6 Gene

Sequence variations from dbSNP and Humsavar for KRTAP5-6 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs58645950 - 1,697,262(+) TGGCT(G/T)CTCTG reference, missense
rs557220 -- 1,698,072(-) TCTCA(G/T)GTCCT downstream-variant-500B
rs112180394 -- 1,696,476(+) GGGTT(A/G)AATAG upstream-variant-2KB
rs72850929 -- 1,695,515(+) TCTGC(C/T)GGTTC upstream-variant-2KB
rs113153385 -- 1,697,445(+) CTCCA(A/G)AGGGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KRTAP5-6 Gene

Variant ID Type Subtype PubMed ID
dgv980n71 CNV Loss 21882294
nsv896727 CNV Gain 21882294
nsv896728 CNV Gain 21882294
nsv832049 CNV Loss 17160897
nsv896729 CNV Loss 21882294
nsv896730 CNV Loss 21882294
nsv896731 CNV Loss 21882294
nsv896732 CNV Loss 21882294

Variation tolerance for KRTAP5-6 Gene

Residual Variation Intolerance Score: 52.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.47; 82.09% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for KRTAP5-6 Gene

Disorders for KRTAP5-6 Gene

Relevant External Links for KRTAP5-6

Genetic Association Database (GAD)
KRTAP5-6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP5-6

No disorders were found for KRTAP5-6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP5-6 Gene

Publications for KRTAP5-6 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
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for KRTAP5-6 Gene

Sources for KRTAP5-6 Gene

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