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
  • Keratin-Associated Protein 5.11 3 4
  • KRTAP5.11 3 4
  • 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 and Keratinization.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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:
  • c-Myb
  • Elk-1
  • FOXO3b
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • TBP
  • TFIID

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)
Size:
21,499 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

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:
  • Ultrahigh sulfur keratin-associated protein 5.11 (KR511_HUMAN)

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.

Phenotypes From GWAS Catalog for KRTAP5-11 Gene

genes like me logo Genes that share phenotypes with KRTAP5-11: view

Animal Model Products

CRISPR Products

Clone 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
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 4
cytoskeleton 2

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

PathCards logo

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 to gene/alias where relevant :

CRISPR Products

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)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP5-11: view image

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
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)

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 56
  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 56

Products for KRTAP5-11 Gene

Sources for KRTAP5-11 Gene