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

Aliases for KRTAP20-4 Gene

Aliases for KRTAP20-4 Gene

  • Keratin Associated Protein 20-4 2 3 5
  • KAP20.4 3 4
  • Putative Keratin-Associated Protein 20-4 3

External Ids for KRTAP20-4 Gene

Previous GeneCards Identifiers for KRTAP20-4 Gene

  • GC21P030915
  • GC21U900303
  • GC21P031992
  • GC21P017401

Summaries for KRTAP20-4 Gene

GeneCards Summary for KRTAP20-4 Gene

KRTAP20-4 (Keratin Associated Protein 20-4) is a Protein Coding gene.

UniProtKB/Swiss-Prot for KRTAP20-4 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 (By similarity).

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP20-4 Gene

Genomics for KRTAP20-4 Gene

Regulatory Elements for KRTAP20-4 Gene

Enhancers for KRTAP20-4 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
GH21G030716 0.7 ENCODE 9.7 +97.7 97671 2.7 PKNOX1 BACH1 BMI1 FOS RELB IKZF2 TCF7L2 MTA2 JUNB TRIM22 KRTAP20-4 KRTAP21-3 KRTAP20-3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRTAP20-4 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP20-4 Gene

Chromosome:
21
Start:
30,620,627 bp from pter
End:
30,620,850 bp from pter
Size:
224 bases
Orientation:
Plus strand

Genomic View for KRTAP20-4 Gene

Genes around KRTAP20-4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP20-4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP20-4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP20-4 Gene

Proteins for KRTAP20-4 Gene

  • Protein details for KRTAP20-4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3LI62-KR204_HUMAN
    Recommended name:
    Putative keratin-associated protein 20-4
    Protein Accession:
    Q3LI62

    Protein attributes for KRTAP20-4 Gene

    Size:
    44 amino acids
    Molecular mass:
    4623 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP20-4 Gene

Post-translational modifications for KRTAP20-4 Gene

No Post-translational modifications

Other Protein References for KRTAP20-4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP20-4 Gene

Domains & Families for KRTAP20-4 Gene

Gene Families for KRTAP20-4 Gene

Protein Domains for KRTAP20-4 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP20-4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3LI62

UniProtKB/Swiss-Prot:

KR204_HUMAN :
  • Belongs to the KRTAP type 20 family.
Family:
  • Belongs to the KRTAP type 20 family.
genes like me logo Genes that share domains with KRTAP20-4: view

Function for KRTAP20-4 Gene

Molecular function for KRTAP20-4 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 (By similarity).

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP20-4 Gene

Localization for KRTAP20-4 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 KRTAP20-4 gene
Compartment Confidence
extracellular 3
cytoskeleton 3
plasma membrane 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP20-4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with KRTAP20-4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP20-4 Gene

Pathways & Interactions for KRTAP20-4 Gene

SuperPathways for KRTAP20-4 Gene

No Data Available

Interacting Proteins for KRTAP20-4 Gene

Gene Ontology (GO) - Biological Process for KRTAP20-4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KRTAP20-4 Gene

Drugs & Compounds for KRTAP20-4 Gene

No Compound Related Data Available

Transcripts for KRTAP20-4 Gene

mRNA/cDNA for KRTAP20-4 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP20-4 Gene

No ASD Table

Relevant External Links for KRTAP20-4 Gene

GeneLoc Exon Structure for
KRTAP20-4
ECgene alternative splicing isoforms for
KRTAP20-4

Expression for KRTAP20-4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTAP20-4 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP20-4 Gene

This gene is overexpressed in Testis (x53.0).

SOURCE GeneReport for Unigene cluster for KRTAP20-4 Gene:

Hs.580879

Evidence on tissue expression from TISSUES for KRTAP20-4 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP20-4: 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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP20-4 Gene

Orthologs for KRTAP20-4 Gene

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

Orthologs for KRTAP20-4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP20-4 35
  • 100 (a)
OneToOne
Species where no ortholog for KRTAP20-4 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 KRTAP20-4 Gene

ENSEMBL:
Gene Tree for KRTAP20-4 (if available)
TreeFam:
Gene Tree for KRTAP20-4 (if available)

Paralogs for KRTAP20-4 Gene

No data available for Paralogs for KRTAP20-4 Gene

Variants for KRTAP20-4 Gene

Sequence variations from dbSNP and Humsavar for KRTAP20-4 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000768502 -- 30,621,193(+) GCTGC(C/T)TTTCA downstream-variant-500B
rs1001759968 -- 30,619,245(+) AACTT(C/T)ATCAC upstream-variant-2KB
rs1002982367 -- 30,620,848(+) ACTCC(C/T)CCAGC nc-transcript-variant
rs1003220781 -- 30,619,625(+) AATAA(C/T)AACAT upstream-variant-2KB
rs1003294954 -- 30,621,124(+) TCATA(C/T)TCAGG downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for KRTAP20-4 Gene

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

Variation tolerance for KRTAP20-4 Gene

Gene Damage Index Score: 0.00; 0.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP20-4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP20-4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP20-4 Gene

Disorders for KRTAP20-4 Gene

Relevant External Links for KRTAP20-4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP20-4

No disorders were found for KRTAP20-4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP20-4 Gene

Publications for KRTAP20-4 Gene

  1. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 3 64

Products for KRTAP20-4 Gene

Sources for KRTAP20-4 Gene

Content
Loading form....