Aliases for KRTAP20-4 Gene

Aliases for KRTAP20-4 Gene

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

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. Diseases associated with KRTAP20-4 include Three M Syndrome 1.

UniProtKB/Swiss-Prot Summary 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).

Additional gene information for KRTAP20-4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP20-4 Gene

Genomics for KRTAP20-4 Gene

GeneHancer (GH) Regulatory Elements for KRTAP20-4 Gene

Promoters and enhancers for KRTAP20-4 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
GH21J030716 Enhancer 0.9 Ensembl ENCODE 9.7 +97.7 97671 2.7 JUND EP300 TRIM22 BCL11A FOS ARNT MEF2B BATF IRF4 IKZF1 KRTAP21-3 KRTAP20-4 HSALNG0132601 LOC105372773 FJ601684-286
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP20-4

Top Transcription factor binding sites by QIAGEN in the KRTAP20-4 gene promoter:
  • CBF-C
  • CP1A
  • CP1C
  • Evi-1
  • NF-Y
  • NF-YA
  • NF-YB
  • POU3F2
  • Sox5
  • SRY

Genomic Locations for KRTAP20-4 Gene

Genomic Locations for KRTAP20-4 Gene
chr21:30,620,627-30,620,850
(GRCh38/hg38)
Size:
224 bases
Orientation:
Plus strand
chr21:31,992,946-31,993,169
(GRCh37/hg19)
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

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

Protein Domains for KRTAP20-4 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP20-4 Gene

GenScript: Design optimal peptide antigens:
  • Putative keratin-associated protein 20-4 (KR204_HUMAN)

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

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
cytoskeleton 3
extracellular 2
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 and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP20-4 Gene

Pathways & Interactions for KRTAP20-4 Gene

PathCards logo

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 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for KRTAP20-4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP20-4

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 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP20-4: view image

Paralogs for KRTAP20-4 Gene

No data available for Paralogs for KRTAP20-4 Gene

Variants for KRTAP20-4 Gene

Additional dbSNP identifiers (rs#s) for KRTAP20-4 Gene

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)

Additional Variant Information 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 and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP20-4 Gene

Disorders for KRTAP20-4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRTAP20-4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
three m syndrome 1
  • 3m1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KRTAP20-4

genes like me logo Genes that share disorders with KRTAP20-4: view

No data available for 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 … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 54

Products for KRTAP20-4 Gene

Sources for KRTAP20-4 Gene