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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 Keratinization and 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.

Additional gene information for KRTAP5-11 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 KRTAP5-11 Gene

Genomics for KRTAP5-11 Gene

GeneHancer (GH) Regulatory Elements for KRTAP5-11 Gene

Promoters and enhancers for KRTAP5-11 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I071582 Promoter 0.5 EPDnew 550.3 +20.4 20436 0.1 KRTAP5-11 KRTAP5-14P OR7E87P
GH11I071693 Enhancer 0.5 FANTOM5 2.1 -89.9 -89860 0.1 MITF CBFA2T2 MLLT1 KDM1A MGA PIR57181 KRTAP5-11 FOLR1 ENSG00000254972 LOC645544
GH11I071606 Enhancer 0.3 Ensembl 0.8 -4.7 -4653 2.2 EZH2 FOLR3 KRTAP5-11 UNC93B6 OR7E4P
GH11I071587 Enhancer 0.6 ENCODE 0.4 +14.8 14819 1.3 CTCF SOX13 PKNOX1 RB1 HLF TRIM22 ZEB2 ATF2 CTBP1 ZNF143 KRTAP5-10 OR7E87P KRTAP5-14P KRTAP5-11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

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

Top Transcription factor binding sites by QIAGEN in the KRTAP5-11 gene promoter:

Genomic Locations for KRTAP5-11 Gene

Genomic Locations for KRTAP5-11 Gene
chr11:71,579,714-71,603,353
(GRCh38/hg38)
Size:
23,640 bases
Orientation:
Minus strand
chr11:71,292,901-71,314,399
(GRCh37/hg19)

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

No Post-translational modifications

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

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

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

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 KRTAP5-11 Gene

Localization for KRTAP5-11 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 KRTAP5-11 gene
Compartment Confidence
cytosol 5
extracellular 3
cytoskeleton 2
nucleus 1

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
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 and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP5-11 Gene

Pathways & Interactions for KRTAP5-11 Gene

SuperPathways for KRTAP5-11 Gene

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

Pathways by source for KRTAP5-11 Gene

2 Reactome pathways for KRTAP5-11 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP5-11: view

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

Drugs & Compounds for KRTAP5-11 Gene

No Compound Related Data Available

Transcripts for KRTAP5-11 Gene

mRNA/cDNA for KRTAP5-11 Gene

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

Unigene Clusters for KRTAP5-11 Gene

Keratin associated protein 5-11:
Representative Sequences:

Clone Products

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 CGAP 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.

Evidence on tissue expression from TISSUES for KRTAP5-11 Gene

  • Skin(4)
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 , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 Variation AA Info Type
rs1000959594 -- 71,584,619(-) G/A/T upstream_transcript_variant
rs1002154553 -- 71,583,731(-) T/G upstream_transcript_variant
rs1002826040 -- 71,581,652(-) C/T downstream_transcript_variant
rs1004155997 -- 71,584,265(-) C/G upstream_transcript_variant
rs1005229488 -- 71,583,559(-) C/T upstream_transcript_variant

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

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

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)

Additional Variant Information 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

Additional Disease Information for 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 (Biochemical and biophysical research communications 2004) 2 3 4 58
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for KRTAP5-11 Gene

Sources for KRTAP5-11 Gene

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