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Aliases for KRTAP24-1 Gene

Aliases for KRTAP24-1 Gene

  • Keratin Associated Protein 24-1 2 3 5
  • KAP24.1 3 4
  • Keratin-Associated Protein 24-1 3

External Ids for KRTAP24-1 Gene

Previous GeneCards Identifiers for KRTAP24-1 Gene

  • GC21M030578
  • GC21M031653
  • GC21M017063

Summaries for KRTAP24-1 Gene

GeneCards Summary for KRTAP24-1 Gene

KRTAP24-1 (Keratin Associated Protein 24-1) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include structural molecule activity.

UniProtKB/Swiss-Prot for KRTAP24-1 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.

Additional gene information for KRTAP24-1 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 KRTAP24-1 Gene

Genomics for KRTAP24-1 Gene

GeneHancer (GH) Regulatory Elements for KRTAP24-1 Gene

Promoters and enhancers for KRTAP24-1 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
GH21I030282 Promoter 0.5 EPDnew 550.8 0.0 -12 0.1 KRTAP24-1 KRTAP25-1
GH21I030233 Enhancer 0.3 ENCODE 10.9 +48.5 48545 2.4 CEBPG LINC00307 KRTAP24-1 KRTAP25-1 CLDN17 CLDN8 GC21M030264
GH21I030271 Enhancer 0.2 ENCODE 0.4 +11.3 11257 1.3 RPL8P2 CLDN8 KRTAP24-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KRTAP24-1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KRTAP24-1 gene promoter:

Genomic Locations for KRTAP24-1 Gene

Genomic Locations for KRTAP24-1 Gene
chr21:30,281,309-30,282,958
(GRCh38/hg38)
Size:
1,650 bases
Orientation:
Minus strand
chr21:31,653,627-31,655,276
(GRCh37/hg19)

Genomic View for KRTAP24-1 Gene

Genes around KRTAP24-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP24-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP24-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP24-1 Gene

Proteins for KRTAP24-1 Gene

  • Protein details for KRTAP24-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3LI83-KR241_HUMAN
    Recommended name:
    Keratin-associated protein 24-1
    Protein Accession:
    Q3LI83
    Secondary Accessions:
    • Q1XDX0

    Protein attributes for KRTAP24-1 Gene

    Size:
    254 amino acids
    Molecular mass:
    27719 Da
    Quaternary structure:
    • Interacts with hair keratins.
    Miscellaneous:
    • Has a low cysteine content when compared to the majority of known KAP family members. Possesses several C-terminal tyrosine-containing tandem decameric repeat structures.

neXtProt entry for KRTAP24-1 Gene

Post-translational modifications for KRTAP24-1 Gene

No Post-translational modifications

Other Protein References for KRTAP24-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP24-1 Gene

Domains & Families for KRTAP24-1 Gene

Gene Families for KRTAP24-1 Gene

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

Protein Domains for KRTAP24-1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP24-1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3LI83

UniProtKB/Swiss-Prot:

KR241_HUMAN :
  • Belongs to the PMG family.
Family:
  • Belongs to the PMG family.
genes like me logo Genes that share domains with KRTAP24-1: view

Function for KRTAP24-1 Gene

Molecular function for KRTAP24-1 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 KRTAP24-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
genes like me logo Genes that share ontologies with KRTAP24-1: view

Phenotypes for KRTAP24-1 Gene

GenomeRNAi human phenotypes for KRTAP24-1:
genes like me logo Genes that share phenotypes with KRTAP24-1: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP24-1 Gene

Localization for KRTAP24-1 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 KRTAP24-1 gene
Compartment Confidence
cytosol 5
cytoskeleton 2
nucleus 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KRTAP24-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP24-1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP24-1 Gene

Pathways & Interactions for KRTAP24-1 Gene

SuperPathways for KRTAP24-1 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP24-1: view

Pathways by source for KRTAP24-1 Gene

2 Reactome pathways for KRTAP24-1 Gene

Interacting Proteins for KRTAP24-1 Gene

Gene Ontology (GO) - Biological Process for KRTAP24-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP24-1: view

No data available for SIGNOR curated interactions for KRTAP24-1 Gene

Drugs & Compounds for KRTAP24-1 Gene

No Compound Related Data Available

Transcripts for KRTAP24-1 Gene

mRNA/cDNA for KRTAP24-1 Gene

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

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP24-1 Gene

No ASD Table

Relevant External Links for KRTAP24-1 Gene

GeneLoc Exon Structure for
KRTAP24-1
ECgene alternative splicing isoforms for
KRTAP24-1

Expression for KRTAP24-1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTAP24-1 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP24-1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x46.1) and Skin - Sun Exposed (Lower leg) (x5.7).

Protein differential expression in normal tissues from HIPED for KRTAP24-1 Gene

This gene is overexpressed in Hair follicle (66.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRTAP24-1 Gene



Protein tissue co-expression partners for KRTAP24-1 Gene

SOURCE GeneReport for Unigene cluster for KRTAP24-1 Gene:

Hs.580883

mRNA Expression by UniProt/SwissProt for KRTAP24-1 Gene:

Q3LI83-KR241_HUMAN
Tissue specificity: Specific expression in the middle/upper hair cuticle.

Evidence on tissue expression from TISSUES for KRTAP24-1 Gene

  • Skin(4.3)
genes like me logo Genes that share expression patterns with KRTAP24-1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP24-1 Gene

Orthologs for KRTAP24-1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP24-1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP24-1 33 34
  • 98.29 (n)
dog
(Canis familiaris)
Mammalia KRTAP24-1 33 34
  • 81.16 (n)
cow
(Bos Taurus)
Mammalia KRTAP24-1 33 34
  • 79.13 (n)
rat
(Rattus norvegicus)
Mammalia Krtap24-1 33
  • 70.97 (n)
mouse
(Mus musculus)
Mammalia Krtap24-1 33 16 34
  • 70.7 (n)
Species where no ortholog for KRTAP24-1 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 KRTAP24-1 Gene

ENSEMBL:
Gene Tree for KRTAP24-1 (if available)
TreeFam:
Gene Tree for KRTAP24-1 (if available)

Paralogs for KRTAP24-1 Gene

No data available for Paralogs for KRTAP24-1 Gene

Variants for KRTAP24-1 Gene

Sequence variations from dbSNP and Humsavar for KRTAP24-1 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1002802655 -- 30,281,290(-) G/A downstream_transcript_variant
rs1002891246 -- 30,283,179(-) A/C upstream_transcript_variant
rs1003182482 -- 30,281,548(-) C/T 3_prime_UTR_variant
rs1004527050 -- 30,281,477(-) T/G 3_prime_UTR_variant
rs1006549910 -- 30,280,948(-) A/G downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KRTAP24-1 Gene

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

Variation tolerance for KRTAP24-1 Gene

Residual Variation Intolerance Score: 82.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.33; 63.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP24-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP24-1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP24-1 Gene

Disorders for KRTAP24-1 Gene

Additional Disease Information for KRTAP24-1

No disorders were found for KRTAP24-1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP24-1 Gene

Publications for KRTAP24-1 Gene

  1. Characterization of human KAP24.1, a cuticular hair keratin-associated protein with unusual amino-acid composition and repeat structure. (PMID: 17235325) Rogers MA … Schweizer J (The Journal of investigative dermatology 2007) 3 4 58
  2. Human hair keratin-associated proteins (KAPs). (PMID: 16939781) Rogers MA … Schweizer J (International review of cytology 2006) 3 58

Products for KRTAP24-1 Gene

Sources for KRTAP24-1 Gene

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