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Aliases for KRTAP5-11 Gene

Aliases for KRTAP5-11 Gene

  • Keratin Associated Protein 5-11 2 3 5
  • Ultrahigh Sulfur Keratin-Associated Protein 5.11 3 4
  • Keratin-Associated Protein 5.11 3 4
  • KRTAP5.11 3 4
  • Keratin-Associated Protein 5-11 3
  • Keratin Associated Protein 5-5 3
  • KRTAP5-5 3
  • KRTAP5-6 3
  • KAP5.11 4

External Ids for KRTAP5-11 Gene

Previous GeneCards Identifiers for KRTAP5-11 Gene

  • GC00U913948
  • GC11U900627
  • GC11M070971
  • GC11M071291
  • GC11M067586
  • GC11M071297

Summaries for KRTAP5-11 Gene

GeneCards Summary for KRTAP5-11 Gene

KRTAP5-11 (Keratin Associated Protein 5-11) is a Protein Coding gene. Among its related pathways are Developmental Biology.

UniProtKB/Swiss-Prot for KRTAP5-11 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 KRTAP5-11 Gene

Genomics for KRTAP5-11 Gene

Regulatory Elements for KRTAP5-11 Gene

Enhancers for KRTAP5-11 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
GH11F071693 0.3 FANTOM5 2.1 -89.9 -89860 0.1 ZFHX2 RAD51 KDM1A MLLT1 MGA EGR2 KRTAP5-11 FOLR1 PIR57181 ENSG00000254972
GH11F071606 1.1 Ensembl 0.8 -4.7 -4653 2.2 CTCF EZH2 FOLR3 KRTAP5-11 OR7E4P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KRTAP5-11 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP5-11 Gene

Chromosome:
11
Start:
71,579,714 bp from pter
End:
71,603,353 bp from pter
Size:
23,640 bases
Orientation:
Minus strand

Genomic View for KRTAP5-11 Gene

Genes around KRTAP5-11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP5-11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP5-11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP5-11 Gene

Proteins for KRTAP5-11 Gene

  • Protein details for KRTAP5-11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6L8G4-KR511_HUMAN
    Recommended name:
    Keratin-associated protein 5-11
    Protein Accession:
    Q6L8G4

    Protein attributes for KRTAP5-11 Gene

    Size:
    156 amino acids
    Molecular mass:
    14610 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP5-11 Gene

Post-translational modifications for KRTAP5-11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP5-11 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP5-11 Gene

Domains & Families for KRTAP5-11 Gene

Gene Families for KRTAP5-11 Gene

Protein Domains for KRTAP5-11 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP5-11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6L8G4

UniProtKB/Swiss-Prot:

KR511_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 KRTAP5-11: view

Function for KRTAP5-11 Gene

Molecular function for KRTAP5-11 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 KRTAP5-11: view

Animal Model Products

Clone Products

Flow Cytometry 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 KRTAP5-11 Gene

Localization for KRTAP5-11 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP5-11 Gene COMPARTMENTS Subcellular localization image for KRTAP5-11 gene
Compartment Confidence
extracellular 3
cytoskeleton 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP5-11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP5-11: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP5-11 Gene

Pathways & Interactions for KRTAP5-11 Gene

SuperPathways for KRTAP5-11 Gene

SuperPathway Contained pathways
1 Developmental Biology
genes like me logo Genes that share pathways with KRTAP5-11: view

Pathways by source for KRTAP5-11 Gene

1 Reactome pathway for KRTAP5-11 Gene

Interacting Proteins for KRTAP5-11 Gene

Gene Ontology (GO) - Biological Process for KRTAP5-11 Gene

None

No data available for SIGNOR curated interactions for KRTAP5-11 Gene

Transcripts for KRTAP5-11 Gene

mRNA/cDNA for KRTAP5-11 Gene

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

Unigene Clusters for KRTAP5-11 Gene

Keratin associated protein 5-11:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP5-11 Gene

No ASD Table

Relevant External Links for KRTAP5-11 Gene

GeneLoc Exon Structure for
KRTAP5-11
ECgene alternative splicing isoforms for
KRTAP5-11

Expression for KRTAP5-11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP5-11 Gene

mRNA expression in normal human tissues for KRTAP5-11 Gene

SOURCE GeneReport for Unigene cluster for KRTAP5-11 Gene:

Hs.679617

mRNA Expression by UniProt/SwissProt for KRTAP5-11 Gene:

Q6L8G4-KR511_HUMAN
Tissue specificity: Restricted to hair root, not detected in any other tissues.
genes like me logo Genes that share expression patterns with KRTAP5-11: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KRTAP5-11 Gene

Orthologs for KRTAP5-11 Gene

Evolution for KRTAP5-11 Gene

ENSEMBL:
Gene Tree for KRTAP5-11 (if available)
TreeFam:
Gene Tree for KRTAP5-11 (if available)

No data available for Orthologs for KRTAP5-11 Gene

Paralogs for KRTAP5-11 Gene

No data available for Paralogs for KRTAP5-11 Gene

Variants for KRTAP5-11 Gene

Sequence variations from dbSNP and Humsavar for KRTAP5-11 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs10751118 -- 71,583,780(+) cccca(C/G)caatg upstream-variant-2KB
rs10751119 -- 71,583,949(+) CTCCT(A/T)CCTTA upstream-variant-2KB
rs10898344 -- 71,581,415(+) AAGCC(C/G)TTGAC downstream-variant-500B
rs10898347 -- 71,583,756(+) ataat(C/T)caaac upstream-variant-2KB
rs111291969 -- 71,581,583(+) TGCTT(A/G)GCTGG downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for KRTAP5-11 Gene

Variant ID Type Subtype PubMed ID
dgv1222n100 CNV gain 25217958
esv3892025 CNV gain 25118596
nsv1043207 CNV gain 25217958
nsv825988 CNV loss 20364138

Variation tolerance for KRTAP5-11 Gene

Residual Variation Intolerance Score: 54.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.52; 29.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP5-11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP5-11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP5-11 Gene

Disorders for KRTAP5-11 Gene

Relevant External Links for KRTAP5-11

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP5-11

No disorders were found for KRTAP5-11 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP5-11 Gene

Publications for KRTAP5-11 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 64
  2. 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 64

Products for KRTAP5-11 Gene

Sources for KRTAP5-11 Gene

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