Free for academic non-profit institutions. Other users need a Commercial license

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
  • Keratin-Associated Protein 5-6 3
  • 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. Among its related pathways are Keratinization and Developmental Biology.

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.

Additional gene information for KRTAP5-6 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 KRTAP5-6 Gene

Genomics for KRTAP5-6 Gene

Regulatory Elements for KRTAP5-6 Gene

Enhancers for KRTAP5-6 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
GH11H001770 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +74.8 74754 3.8 HDGF PKNOX1 ATF1 ARNT SIN3A ZBTB7B GATA2 FOS ATF7 MCM3 TSPAN4 SNORA52 PIDD1 IFITM10 TNNI2 ENSG00000255142 SYT8 KRTAP5-6 LOC100505570 FAM99B
GH11H002139 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +448.9 448945 13 ELF3 RB1 BATF RAD21 ZEB1 GLIS2 SCRT2 ZNF143 FOS RUNX3 TSSC4 ENSG00000199550 CD81 LSP1 LOC100505570 KRTAP5-6 FAM99B KRTAP5-5 IGF2 TH
GH11H001977 1.3 ENCODE dbSUPER 11 +283.8 283837 7.5 PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B DMAP1 SP5 ZHX2 MXD4 MRPL23-AS1 TSSC4 LSP1 KRTAP5-6 FAM99B LOC100505570 GC11P001986 GC11P001973
GH11H001768 1 ENCODE dbSUPER 11.1 +71.8 71816 0.9 TFAP4 ZNF687 NFIB NR4A1 ZNF592 E2F1 NFIC GATA3 MAFF ZNF318 SYT8 TNNI2 KRTAP5-6 FAM99B LOC100505570 CTSD LOC105376517
GH11H001730 0.5 FANTOM5 20.7 +33.5 33480 0.4 TARDBP MNT KRTAP5-6 ENSG00000235027 KRTAP5-1 CTSD ENSG00000229512 ENSG00000250644 KRTAP5-5 LOC100505570 FAM99B KRTAP5-3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Genomic Locations for KRTAP5-6 Gene

Genomic Locations for KRTAP5-6 Gene
chr11:1,697,195-1,697,755
(GRCh38/hg38)
Size:
561 bases
Orientation:
Plus strand
chr11:1,718,425-1,718,985
(GRCh37/hg19)

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

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

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

Protein Domains for KRTAP5-6 Gene

Blocks:
InterPro:
ProtoNet:

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.

Phenotypes From GWAS Catalog for KRTAP5-6 Gene

Gene Ontology (GO) - Molecular Function for KRTAP5-6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRTAP5-6: view
genes like me logo Genes that share phenotypes with KRTAP5-6: view

Animal Model Products

CRISPR Products

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

Localization for KRTAP5-6 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 KRTAP5-6 gene
Compartment Confidence
cytosol 5
extracellular 3
cytoskeleton 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KRTAP5-6 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 KRTAP5-6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP5-6 Gene

Pathways & Interactions for KRTAP5-6 Gene

SuperPathways for KRTAP5-6 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP5-6: view

Pathways by source for KRTAP5-6 Gene

2 Reactome pathways for KRTAP5-6 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP5-6: view

No data available for 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 :

CRISPR Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for KRTAP5-6 Gene

  • Skin(4)
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 , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
rs1000452667 -- 1,696,875(+) TGTTA(C/T)GGCAG upstream-variant-2KB
rs1001241191 -- 1,698,019(+) TCCTC(C/G)CCAGG downstream-variant-500B
rs1001962787 -- 1,695,206(+) TCAGC(A/C)TTGGG upstream-variant-2KB
rs1004269404 -- 1,698,050(+) TCTCT(A/C)TCAGT downstream-variant-500B
rs1005856681 -- 1,696,282(+) CCTAT(C/T)CTGAT upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv2761643 CNV gain 21179565
nsv832049 CNV loss 17160897

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)

Relevant External Links for KRTAP5-6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP5-6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 (Biochemical and biophysical research communications 2004) 2 3 4 60
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 60
  4. 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 60

Products for KRTAP5-6 Gene

Sources for KRTAP5-6 Gene

Content
Loading form....