KRTAP20-3 Gene (Protein Coding)

Keratin Associated Protein 20-3

GC21P030642
GIFtS:
21

Aliases for KRTAP20-3 Gene

Aliases for KRTAP20-3 Gene

  • Keratin Associated Protein 20-3 2 3 5
  • Keratin Associated Protein 19 Pseudogene 4 2 3
  • Keratin-Associated Protein 20-3 3 4
  • KAP20.3 3 4
  • KRTAP19P4 3
  • KAP19D 3

External Ids for KRTAP20-3 Gene

Previous HGNC Symbols for KRTAP20-3 Gene

  • KRTAP19P4

Previous GeneCards Identifiers for KRTAP20-3 Gene

  • GC21P030938
  • GC21P032015
  • GC21P017423

Summaries for KRTAP20-3 Gene

GeneCards Summary for KRTAP20-3 Gene

KRTAP20-3 (Keratin Associated Protein 20-3) is a Protein Coding gene. Diseases associated with KRTAP20-3 include Three M Syndrome 1.

UniProtKB/Swiss-Prot Summary for KRTAP20-3 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 KRTAP20-3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP20-3 Gene

Genomics for KRTAP20-3 Gene

GeneHancer (GH) Regulatory Elements for KRTAP20-3 Gene


Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP20-3

Top Transcription factor binding sites by QIAGEN in the KRTAP20-3 gene promoter:
  • Evi-1
  • GATA-1
  • Nkx2-2
  • Pbx1a
  • POU2F1
  • POU2F1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RFX1

Genomic Locations for KRTAP20-3 Gene

Genomic Locations for KRTAP20-3 Gene
chr21:30,642,864-30,643,136
(GRCh38/hg38)
Size:
273 bases
Orientation:
Plus strand
chr21:32,015,183-32,015,455
(GRCh37/hg19)
Size:
273 bases
Orientation:
Plus strand

Genomic View for KRTAP20-3 Gene

Genes around KRTAP20-3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP20-3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP20-3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KRTAP20-3 Gene

Proteins for KRTAP20-3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for KRTAP20-3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3LI60-KR203_HUMAN
    Recommended name:
    Keratin-associated protein 20-3
    Protein Accession:
    Q3LI60

    Protein attributes for KRTAP20-3 Gene

    Size:
    44 amino acids
    Molecular mass:
    4909 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP20-3 Gene

Post-translational modifications for KRTAP20-3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP20-3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP20-3 Gene

Domains & Families for KRTAP20-3 Gene

Gene Families for KRTAP20-3 Gene

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

Protein Domains for KRTAP20-3 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP20-3 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-associated protein 20-3 (KR203_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3LI60

UniProtKB/Swiss-Prot:

KR203_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 KRTAP20-3: view

Function for KRTAP20-3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for KRTAP20-3 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 From GWAS Catalog for KRTAP20-3 Gene

Animal Model Products

CRISPR Products

Clone 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 KRTAP20-3 Gene

Localization for KRTAP20-3 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 KRTAP20-3 gene
Compartment Confidence
extracellular 3
cytoskeleton 3
cytosol 1
nucleus 0

Gene Ontology (GO) - Cellular Components for KRTAP20-3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with KRTAP20-3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP20-3 Gene

Pathways & Interactions for KRTAP20-3 Gene

PathCards logo

SuperPathways for KRTAP20-3 Gene

No Data Available

Interacting Proteins for KRTAP20-3 Gene

;

Gene Ontology (GO) - Biological Process for KRTAP20-3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KRTAP20-3 Gene

Drugs & Compounds for KRTAP20-3 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for KRTAP20-3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KRTAP20-3 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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP20-3 Gene

No ASD Table

Relevant External Links for KRTAP20-3 Gene

GeneLoc Exon Structure for
KRTAP20-3

Expression for KRTAP20-3 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP20-3 Gene

mRNA expression in normal human tissues for KRTAP20-3 Gene
mRNA expression by GTEx for KRTAP20-3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP20-3

SOURCE GeneReport for Unigene cluster for KRTAP20-3 Gene:

Hs.580878

Evidence on tissue expression from TISSUES for KRTAP20-3 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP20-3: 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 KRTAP20-3 Gene

Orthologs for KRTAP20-3 Gene

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

Orthologs for KRTAP20-3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia KRTAP20-3 31
  • 100 (a)
 OneToOne
Species where no ortholog for KRTAP20-3 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 KRTAP20-3 Gene

ENSEMBL:
Gene Tree for KRTAP20-3 (if available)
TreeFam:
Gene Tree for KRTAP20-3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP20-3: view image

Paralogs for KRTAP20-3 Gene

No data available for Paralogs for KRTAP20-3 Gene

Variants for KRTAP20-3 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Additional dbSNP identifiers (rs#s) for KRTAP20-3 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRTAP20-3 Gene

Variant ID Type Subtype PubMed ID
nsv1057467 CNV gain 25217958

Variation tolerance for KRTAP20-3 Gene

Gene Damage Index Score: 0.03; 0.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP20-3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP20-3

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 KRTAP20-3 Gene

Disorders for KRTAP20-3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRTAP20-3 Gene - From: DISEASES

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

Additional Disease Information for KRTAP20-3

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KRTAP20-3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTAP20-3 Gene

Publications for KRTAP20-3 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) 3 54
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 54

ExternalLinks

View latest publications for KRTAP20-3 gene in Mastermind

Products for KRTAP20-3 Gene

Sources for KRTAP20-3 Gene