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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
  • 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

GeneHancer (GH) Regulatory Elements for KRTAP5-6 Gene

Promoters and enhancers for KRTAP5-6 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
GH11J002139 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.6 +448.9 448944 13 ELF3 RB1 MZF1 BATF ZNF48 RAD21 ZEB1 ZNF335 GLIS2 SCRT2 IGF2 INS-IGF2 TSSC4 ENSG00000199550 CD81 LSP1 LOC100505570 KRTAP5-6 FAM99B KRTAP5-5
GH11J001770 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +74.8 74753 3.8 HDGF PKNOX1 CLOCK ATF1 ARNT NEUROD1 SIN3A ZBTB7B ARID2 ZFP91 SNORA52 TSPAN4 PIDD1 IFITM10 TNNI2 ENSG00000255142 SYT8 KRTAP5-6 LOC100505570 FAM99B
GH11J001977 Enhancer 1.2 ENCODE dbSUPER 11 +283.8 283837 7.5 PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B DMAP1 SP5 NFYC ZHX2 MRPL23-AS1 TSSC4 LSP1 KRTAP5-6 FAM99B LOC100505570 GC11P001986 GC11P001973 MRPL23
GH11J001768 Enhancer 0.9 ENCODE dbSUPER 11.1 +71.8 71815 0.9 NCOA3 ZNF687 TFAP4 NFIB DACH1 ZNF592 E2F1 GATA3 NFIC MAFF SYT8 TNNI2 KRTAP5-6 FAM99B LOC100505570 CTSD LOC105376517
GH11J002001 Enhancer 0.9 Ensembl ENCODE 10.9 +305.0 305044 1.7 CTCF RB1 EBF1 RAD21 CC2D1A ZNF335 ARID2 VEZF1 ZNF143 SMC3 H19 TNNI2 SYT8 KRTAP5-6 FAM99B LOC100505570 PIR50683 MRPL23
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

Top Transcription factor binding sites by QIAGEN in the KRTAP5-6 gene promoter:
  • FOXO1a
  • FOXO1
  • FOXD1
  • POU2F1a
  • POU2F1
  • FOXO4
  • Chx10
  • Arnt
  • AhR
  • S8

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)
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

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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP5-6

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

Unigene Clusters for KRTAP5-6 Gene

Keratin associated protein 5-6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP5-6

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 Variation AA Info Type
rs1000452667 -- 1,696,875(+) T/C upstream_transcript_variant
rs1001241191 -- 1,698,019(+) C/G downstream_transcript_variant
rs1001962787 -- 1,695,206(+) A/C upstream_transcript_variant
rs1004269404 -- 1,698,050(+) C/A downstream_transcript_variant
rs1005856681 -- 1,696,282(+) T/C upstream_transcript_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 58
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  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 58
  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 58

Products for KRTAP5-6 Gene

Sources for KRTAP5-6 Gene

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