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Aliases for KRTAP6-3 Gene

Aliases for KRTAP6-3 Gene

  • Keratin Associated Protein 6-3 2 3 5
  • KAP6.3 3 4
  • Keratin-Associated Protein 6-3 3

External Ids for KRTAP6-3 Gene

Previous GeneCards Identifiers for KRTAP6-3 Gene

  • GC21U900018
  • GC21P030886
  • GC21P030887
  • GC21P031964
  • GC21P017373

Summaries for KRTAP6-3 Gene

GeneCards Summary for KRTAP6-3 Gene

KRTAP6-3 (Keratin Associated Protein 6-3) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology.

UniProtKB/Swiss-Prot for KRTAP6-3 Gene

  • In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (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 KRTAP6-3 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 KRTAP6-3 Gene

Genomics for KRTAP6-3 Gene

Regulatory Elements for KRTAP6-3 Gene

Enhancers for KRTAP6-3 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
GH21H030893 0.3 FANTOM5 1.4 +301.2 301213 0 KRTAP21-3 KRTAP19-4 KRTAP6-3 KRTAP13-4 KRTAP15-1 GC21M030894 GC21P030894
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRTAP6-3 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP6-3 Gene

Chromosome:
21
Start:
30,592,440 bp from pter
End:
30,593,075 bp from pter
Size:
636 bases
Orientation:
Plus strand

Genomic View for KRTAP6-3 Gene

Genes around KRTAP6-3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP6-3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP6-3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP6-3 Gene

Proteins for KRTAP6-3 Gene

  • Protein details for KRTAP6-3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3LI67-KRA63_HUMAN
    Recommended name:
    Keratin-associated protein 6-3
    Protein Accession:
    Q3LI67
    Secondary Accessions:
    • A4IF26

    Protein attributes for KRTAP6-3 Gene

    Size:
    103 amino acids
    Molecular mass:
    10409 Da
    Quaternary structure:
    • Interacts with hair keratins.
    SequenceCaution:
    • Sequence=BAE46366.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KRTAP6-3 Gene

Post-translational modifications for KRTAP6-3 Gene

No Post-translational modifications

Other Protein References for KRTAP6-3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP6-3 Gene

Domains & Families for KRTAP6-3 Gene

Gene Families for KRTAP6-3 Gene

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

Protein Domains for KRTAP6-3 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP6-3 Gene

Graphical View of Domain Structure for InterPro Entry

Q3LI67

UniProtKB/Swiss-Prot:

KRA63_HUMAN :
  • Belongs to the KRTAP type 6 family.
Family:
  • Belongs to the KRTAP type 6 family.
genes like me logo Genes that share domains with KRTAP6-3: view

Function for KRTAP6-3 Gene

Molecular function for KRTAP6-3 Gene

UniProtKB/Swiss-Prot Function:
In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (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 for KRTAP6-3 Gene

GenomeRNAi human phenotypes for KRTAP6-3:
genes like me logo Genes that share phenotypes with KRTAP6-3: view

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for KRTAP6-3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 KRTAP6-3 Gene

Localization for KRTAP6-3 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 KRTAP6-3 gene
Compartment Confidence
cytosol 4
extracellular 3
cytoskeleton 3
plasma membrane 1

Gene Ontology (GO) - Cellular Components for KRTAP6-3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with KRTAP6-3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP6-3 Gene

Pathways & Interactions for KRTAP6-3 Gene

SuperPathways for KRTAP6-3 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP6-3: view

Pathways by source for KRTAP6-3 Gene

2 Reactome pathways for KRTAP6-3 Gene

Interacting Proteins for KRTAP6-3 Gene

Gene Ontology (GO) - Biological Process for KRTAP6-3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP6-3: view

No data available for SIGNOR curated interactions for KRTAP6-3 Gene

Drugs & Compounds for KRTAP6-3 Gene

No Compound Related Data Available

Transcripts for KRTAP6-3 Gene

mRNA/cDNA for KRTAP6-3 Gene

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

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for KRTAP6-3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP6-3 Gene

No ASD Table

Relevant External Links for KRTAP6-3 Gene

GeneLoc Exon Structure for
KRTAP6-3
ECgene alternative splicing isoforms for
KRTAP6-3

Expression for KRTAP6-3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTAP6-3 Gene

SOURCE GeneReport for Unigene cluster for KRTAP6-3 Gene:

Hs.553691

Evidence on tissue expression from TISSUES for KRTAP6-3 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP6-3: 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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP6-3 Gene

Orthologs for KRTAP6-3 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for KRTAP6-3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP6-3 34
  • 95 (a)
OneToOne
Species where no ortholog for KRTAP6-3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KRTAP6-3 Gene

ENSEMBL:
Gene Tree for KRTAP6-3 (if available)
TreeFam:
Gene Tree for KRTAP6-3 (if available)

Paralogs for KRTAP6-3 Gene

No data available for Paralogs for KRTAP6-3 Gene

Variants for KRTAP6-3 Gene

Sequence variations from dbSNP and Humsavar for KRTAP6-3 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000996787 -- 30,591,383(+) AATTA(C/T)TAGTC upstream-variant-2KB
rs1001292211 -- 30,590,687(+) GATTA(A/G)CTTCT upstream-variant-2KB
rs1002849561 -- 30,591,770(+) GATTA(C/T)TCTAC upstream-variant-2KB
rs1002962558 -- 30,592,063(+) TAGAC(-/TAAT)TAATA upstream-variant-2KB
rs1004299521 -- 30,592,303(+) GTAAG(A/G)GCCAG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KRTAP6-3 Gene

Variant ID Type Subtype PubMed ID
esv2762105 CNV gain 21179565
nsv1057467 CNV gain 25217958
nsv587354 CNV gain 21841781

Variation tolerance for KRTAP6-3 Gene

Gene Damage Index Score: 2.77; 47.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP6-3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP6-3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP6-3 Gene

Disorders for KRTAP6-3 Gene

Relevant External Links for KRTAP6-3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP6-3

No disorders were found for KRTAP6-3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP6-3 Gene

Publications for KRTAP6-3 Gene

  1. Characterization of a first domain of human high glycine-tyrosine and high sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1. (PMID: 12359730) Rogers MA … Schweizer J (The Journal of biological chemistry 2002) 2 3 60
  2. 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
  3. 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 KRTAP6-3 Gene

Sources for KRTAP6-3 Gene

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