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Aliases for KRTAP25-1 Gene

Aliases for KRTAP25-1 Gene

  • Keratin Associated Protein 25-1 2 3 5
  • KAP25.1 3 4
  • Keratin-Associated Protein 25-1 3

External Ids for KRTAP25-1 Gene

Previous GeneCards Identifiers for KRTAP25-1 Gene

  • GC21U900252
  • GC21M030584
  • GC21M031661
  • GC21M017070

Summaries for KRTAP25-1 Gene

GeneCards Summary for KRTAP25-1 Gene

KRTAP25-1 (Keratin Associated Protein 25-1) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology.

UniProtKB/Swiss-Prot for KRTAP25-1 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 (By similarity).

Additional gene information for KRTAP25-1 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 KRTAP25-1 Gene

Genomics for KRTAP25-1 Gene

GeneHancer (GH) Regulatory Elements for KRTAP25-1 Gene

Promoters and enhancers for KRTAP25-1 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
GH21I030289 Promoter 0.6 EPDnew 550.8 -0.1 -80 0.1 PKNOX1 KRTAP25-1 KRTAP26-1
GH21I030233 Enhancer 0.3 ENCODE 10.7 +55.1 55101 2.4 CEBPG LINC00307 KRTAP24-1 KRTAP25-1 CLDN17 CLDN8 GC21M030264
GH21I030088 Enhancer 0.2 FANTOM5 7.3 +201.1 201072 0.4 ENSG00000259981 KRTAP23-1 KRTAP19-7 KRTAP27-1 KRTAP15-1 KRTAP13-3 KRTAP25-1 KRTAP19-4 KRTAP19-2 KRTAP19-6
GH21I030060 Enhancer 0.3 FANTOM5 4.3 +229.1 229061 0.2 KRTAP13-4 KRTAP19-2 KRTAP25-1 KRTAP23-1 ENSG00000259981 GRIK1
GH21I029848 Enhancer 0.2 FANTOM5 2.1 +440.9 440872 0.3 KRTAP27-1 KRTAP23-1 KRTAP25-1 GC21P029844 GRIK1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KRTAP25-1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for KRTAP25-1 Gene

Genomic Locations for KRTAP25-1 Gene
chr21:30,289,145-30,289,514
(GRCh38/hg38)
Size:
370 bases
Orientation:
Minus strand
chr21:31,661,463-31,661,832
(GRCh37/hg19)

Genomic View for KRTAP25-1 Gene

Genes around KRTAP25-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP25-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP25-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP25-1 Gene

Proteins for KRTAP25-1 Gene

  • Protein details for KRTAP25-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3LHN0-KR251_HUMAN
    Recommended name:
    Keratin-associated protein 25-1
    Protein Accession:
    Q3LHN0

    Protein attributes for KRTAP25-1 Gene

    Size:
    102 amino acids
    Molecular mass:
    11738 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP25-1 Gene

Post-translational modifications for KRTAP25-1 Gene

No Post-translational modifications

Other Protein References for KRTAP25-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP25-1 Gene

Domains & Families for KRTAP25-1 Gene

Gene Families for KRTAP25-1 Gene

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

Protein Domains for KRTAP25-1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP25-1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3LHN0

UniProtKB/Swiss-Prot:

KR251_HUMAN :
  • Belongs to the PMG family.
Family:
  • Belongs to the PMG family.
genes like me logo Genes that share domains with KRTAP25-1: view

Function for KRTAP25-1 Gene

Molecular function for KRTAP25-1 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 (By similarity).

Phenotypes for KRTAP25-1 Gene

GenomeRNAi human phenotypes for KRTAP25-1:
genes like me logo Genes that share phenotypes with KRTAP25-1: view

Animal Model Products

Clone Products

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 KRTAP25-1 Gene

Localization for KRTAP25-1 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 KRTAP25-1 gene
Compartment Confidence
cytosol 5
cytoskeleton 3
plasma membrane 2
extracellular 2
nucleus 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KRTAP25-1 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 KRTAP25-1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP25-1 Gene

Pathways & Interactions for KRTAP25-1 Gene

SuperPathways for KRTAP25-1 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP25-1: view

Pathways by source for KRTAP25-1 Gene

2 Reactome pathways for KRTAP25-1 Gene

Interacting Proteins for KRTAP25-1 Gene

Gene Ontology (GO) - Biological Process for KRTAP25-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP25-1: view

No data available for SIGNOR curated interactions for KRTAP25-1 Gene

Drugs & Compounds for KRTAP25-1 Gene

No Compound Related Data Available

Transcripts for KRTAP25-1 Gene

mRNA/cDNA for KRTAP25-1 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP25-1 Gene

No ASD Table

Relevant External Links for KRTAP25-1 Gene

GeneLoc Exon Structure for
KRTAP25-1
ECgene alternative splicing isoforms for
KRTAP25-1

Expression for KRTAP25-1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTAP25-1 Gene

SOURCE GeneReport for Unigene cluster for KRTAP25-1 Gene:

Hs.580882

Evidence on tissue expression from TISSUES for KRTAP25-1 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with KRTAP25-1: 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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP25-1 Gene

Orthologs for KRTAP25-1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP25-1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC100613330 33
  • 98.37 (n)
KRTAP25-1 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC102153645 33
  • 73.2 (n)
KRTAP25-1 34
  • 25 (a)
OneToOne
Species where no ortholog for KRTAP25-1 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)
  • 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 KRTAP25-1 Gene

ENSEMBL:
Gene Tree for KRTAP25-1 (if available)
TreeFam:
Gene Tree for KRTAP25-1 (if available)

Paralogs for KRTAP25-1 Gene

No data available for Paralogs for KRTAP25-1 Gene

Variants for KRTAP25-1 Gene

Sequence variations from dbSNP and Humsavar for KRTAP25-1 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1000267576 -- 30,290,935(-) T/G upstream_transcript_variant
rs1002442366 -- 30,290,494(-) A/G upstream_transcript_variant
rs1002652327 -- 30,290,789(-) G/A upstream_transcript_variant
rs1003523764 -- 30,288,905(-) T/C downstream_transcript_variant
rs1005407482 -- 30,289,811(-) G/A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KRTAP25-1 Gene

Variant ID Type Subtype PubMed ID
nsv587354 CNV gain 21841781
nsv587355 CNV loss 21841781
nsv834076 CNV gain 17160897

Variation tolerance for KRTAP25-1 Gene

Gene Damage Index Score: 0.34; 7.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP25-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP25-1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP25-1 Gene

Disorders for KRTAP25-1 Gene

Additional Disease Information for KRTAP25-1

No disorders were found for KRTAP25-1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP25-1 Gene

Publications for KRTAP25-1 Gene

  1. Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study. (PMID: 17903306) Newton-Cheh C … Larson MG (BMC medical genetics 2007) 44 58
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 58

Products for KRTAP25-1 Gene

Sources for KRTAP25-1 Gene

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