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Aliases for KRTAP23-1 Gene

Aliases for KRTAP23-1 Gene

  • Keratin Associated Protein 23-1 2 3 5
  • KAP23.1 3 4
  • Keratin-Associated Protein 23-1 3

External Ids for KRTAP23-1 Gene

Previous GeneCards Identifiers for KRTAP23-1 Gene

  • GC00U906261
  • GC21U900098
  • GC21M030641
  • GC21M030642
  • GC21M031720
  • GC21M017129

Summaries for KRTAP23-1 Gene

GeneCards Summary for KRTAP23-1 Gene

KRTAP23-1 (Keratin Associated Protein 23-1) is a Protein Coding gene. Among its related pathways are Developmental Biology.

UniProtKB/Swiss-Prot for KRTAP23-1 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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP23-1 Gene

Genomics for KRTAP23-1 Gene

Regulatory Elements for KRTAP23-1 Gene

Enhancers for KRTAP23-1 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
GH21F030088 0.3 FANTOM5 11 +260.2 260168 0.4 KRTAP23-1 KRTAP19-7 KRTAP27-1 KRTAP15-1 KRTAP13-3 KRTAP25-1 KRTAP19-4 KRTAP19-2 KRTAP19-6 KRTAP13-4
GH21F029848 1.1 FANTOM5 5.5 +500.0 499968 0.3 SOX5 SOX13 MTA2 TBX21 OSR2 IKZF1 NBN WT1 KRTAP27-1 KRTAP23-1 KRTAP25-1 GC21P029844 GRIK1
GH21F030060 0.3 FANTOM5 1.6 +288.2 288156 0.2 KRTAP13-4 KRTAP19-2 KRTAP25-1 KRTAP23-1 ENSG00000259981 GRIK1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KRTAP23-1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP23-1 Gene

Chromosome:
21
Start:
30,348,399 bp from pter
End:
30,348,609 bp from pter
Size:
211 bases
Orientation:
Minus strand

Genomic View for KRTAP23-1 Gene

Genes around KRTAP23-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP23-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP23-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP23-1 Gene

Proteins for KRTAP23-1 Gene

  • Protein details for KRTAP23-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A1A580-KR231_HUMAN
    Recommended name:
    Keratin-associated protein 23-1
    Protein Accession:
    A1A580

    Protein attributes for KRTAP23-1 Gene

    Size:
    65 amino acids
    Molecular mass:
    6892 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP23-1 Gene

Post-translational modifications for KRTAP23-1 Gene

No Post-translational modifications

Other Protein References for KRTAP23-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP23-1 Gene

Domains & Families for KRTAP23-1 Gene

Gene Families for KRTAP23-1 Gene

Protein Domains for KRTAP23-1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP23-1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KRTAP23-1: view

No data available for UniProtKB/Swiss-Prot for KRTAP23-1 Gene

Function for KRTAP23-1 Gene

Molecular function for KRTAP23-1 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.

Gene Ontology (GO) - Molecular Function for KRTAP23-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRTAP23-1: view
genes like me logo Genes that share phenotypes with KRTAP23-1: view

Animal Model Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP23-1 Gene

Localization for KRTAP23-1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP23-1 Gene COMPARTMENTS Subcellular localization image for KRTAP23-1 gene
Compartment Confidence
cytoskeleton 3
extracellular 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP23-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with KRTAP23-1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP23-1 Gene

Pathways & Interactions for KRTAP23-1 Gene

SuperPathways for KRTAP23-1 Gene

SuperPathway Contained pathways
1 Developmental Biology
genes like me logo Genes that share pathways with KRTAP23-1: view

Pathways by source for KRTAP23-1 Gene

1 Reactome pathway for KRTAP23-1 Gene

Interacting Proteins for KRTAP23-1 Gene

Gene Ontology (GO) - Biological Process for KRTAP23-1 Gene

None

No data available for SIGNOR curated interactions for KRTAP23-1 Gene

Transcripts for KRTAP23-1 Gene

mRNA/cDNA for KRTAP23-1 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP23-1 Gene

No ASD Table

Relevant External Links for KRTAP23-1 Gene

GeneLoc Exon Structure for
KRTAP23-1
ECgene alternative splicing isoforms for
KRTAP23-1

Expression for KRTAP23-1 Gene

mRNA expression in normal human tissues for KRTAP23-1 Gene

SOURCE GeneReport for Unigene cluster for KRTAP23-1 Gene:

Hs.553688
genes like me logo Genes that share expression patterns with KRTAP23-1: 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 and mRNA Expression by UniProt/SwissProt for KRTAP23-1 Gene

Orthologs for KRTAP23-1 Gene

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

Orthologs for KRTAP23-1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP23-1 35
  • 94 (a)
OneToOne
Species where no ortholog for KRTAP23-1 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 KRTAP23-1 Gene

ENSEMBL:
Gene Tree for KRTAP23-1 (if available)
TreeFam:
Gene Tree for KRTAP23-1 (if available)

Paralogs for KRTAP23-1 Gene

No data available for Paralogs for KRTAP23-1 Gene

Variants for KRTAP23-1 Gene

Sequence variations from dbSNP and Humsavar for KRTAP23-1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs111410483 -- 30,348,155(+) ATATG(C/T)TGGGT downstream-variant-500B
rs111437307 -- 30,348,883(+) CTCTT(-/TC)TCTCT upstream-variant-2KB
rs113884026 -- 30,350,334(+) ATAAA(C/T)AGGTT upstream-variant-2KB
rs116784429 -- 30,350,164(+) TGCAT(C/G/T)GCTCA upstream-variant-2KB
rs11702081 -- 30,348,882(+) TCTCT(C/T)TCTCT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KRTAP23-1 Gene

Variant ID Type Subtype PubMed ID
nsv1057467 CNV gain 25217958
nsv587354 CNV gain 21841781
nsv834076 CNV gain 17160897

Variation tolerance for KRTAP23-1 Gene

Residual Variation Intolerance Score: 79.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.15; 3.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP23-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP23-1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP23-1 Gene

Disorders for KRTAP23-1 Gene

Relevant External Links for KRTAP23-1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP23-1

No disorders were found for KRTAP23-1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP23-1 Gene

Publications for KRTAP23-1 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 M.A. … Schweizer J. (J. Biol. Chem. 2002) 2 3 64
  2. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3 64
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64

Products for KRTAP23-1 Gene

Sources for KRTAP23-1 Gene

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