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Aliases for KRTAP12-4 Gene

Aliases for KRTAP12-4 Gene

  • Keratin Associated Protein 12-4 2 3 5
  • High Sulfur Keratin-Associated Protein 12.4 3 4
  • KRTAP12.4 3 4
  • Keratin-Associated Protein 12-4 3
  • Keratin-Associated Protein 12.4 4
  • KAP12.4 4

External Ids for KRTAP12-4 Gene

Previous GeneCards Identifiers for KRTAP12-4 Gene

  • GC00U914013
  • GC21M044930
  • GC21M044898
  • GC21M046075
  • GC21M031448
  • GC21M046164
  • GC21M046387
  • GC21M046546
  • GC21M046733

Summaries for KRTAP12-4 Gene

GeneCards Summary for KRTAP12-4 Gene

KRTAP12-4 (Keratin Associated Protein 12-4) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology.

UniProtKB/Swiss-Prot for KRTAP12-4 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.

Additional gene information for KRTAP12-4 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 KRTAP12-4 Gene

Genomics for KRTAP12-4 Gene

GeneHancer (GH) Regulatory Elements for KRTAP12-4 Gene

Promoters and enhancers for KRTAP12-4 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
GH21I044653 Enhancer 0.3 ENCODE 550.8 +0.3 292 1.3 ZIC2 KRTAP12-4 GC21P044648 GC21M045668 TSPEAR
GH21I045134 Enhancer 1.3 Ensembl ENCODE dbSUPER 5.4 -482.2 -482234 4.8 HDGF PKNOX1 ARNT ZNF2 ARID2 ZNF143 ATF7 RUNX3 DEK REST SSR4P1 ADARB1 ENSG00000228355 MTCO1P3 LINC00334 LINC00205 LINC00315 KRTAP12-4 LOC105372835 GC21M045667
GH21I044567 Enhancer 0.4 ENCODE 10.7 +88.1 88066 0.2 FOSL1 JUNB KRTAP10-1 TSPEAR-AS2 KRTAP12-3 IMMTP1 KRTAP12-1 KRTAP12-4 KRTAP10-3 KRTAP10-4 TSPEAR
GH21I044853 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 2.7 -200.1 -200064 2.4 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT ZNF766 CBX5 E2F8 ZNF263 REST PTTG1IP SUMO3 UBE2G2 LINC01424 POFUT2 TRAPPC10 KRTAP12-4 PIR60294 GC21P044820
GH21I044656 Promoter/Enhancer 1.1 EPDnew FANTOM5 ENCODE 2.4 -3.5 -3500 2.9 KLF1 KLF17 SETDB1 KRTAP12-3 KRTAP10-1 KRTAP12-1 IMMTP1 KRTAP10-2 KRTAP10-12 KRTAP10-10 KRTAP12-4 GC21M045668 TSPEAR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KRTAP12-4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KRTAP12-4 gene promoter:

Genomic Locations for KRTAP12-4 Gene

Genomic Locations for KRTAP12-4 Gene
chr21:44,654,213-44,654,659
(GRCh38/hg38)
Size:
447 bases
Orientation:
Minus strand
chr21:46,074,130-46,074,576
(GRCh37/hg19)

Genomic View for KRTAP12-4 Gene

Genes around KRTAP12-4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP12-4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP12-4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP12-4 Gene

Proteins for KRTAP12-4 Gene

  • Protein details for KRTAP12-4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P60329-KR124_HUMAN
    Recommended name:
    Keratin-associated protein 12-4
    Protein Accession:
    P60329
    Secondary Accessions:
    • Q08AF5

    Protein attributes for KRTAP12-4 Gene

    Size:
    112 amino acids
    Molecular mass:
    11433 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP12-4 Gene

Post-translational modifications for KRTAP12-4 Gene

No Post-translational modifications

Other Protein References for KRTAP12-4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP12-4 Gene

Domains & Families for KRTAP12-4 Gene

Gene Families for KRTAP12-4 Gene

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

Protein Domains for KRTAP12-4 Gene

Suggested Antigen Peptide Sequences for KRTAP12-4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P60329

UniProtKB/Swiss-Prot:

KR124_HUMAN :
  • Belongs to the KRTAP type 12 family.
Family:
  • Belongs to the KRTAP type 12 family.
genes like me logo Genes that share domains with KRTAP12-4: view

Function for KRTAP12-4 Gene

Molecular function for KRTAP12-4 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.

Gene Ontology (GO) - Molecular Function for KRTAP12-4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRTAP12-4: view

Phenotypes for KRTAP12-4 Gene

genes like me logo Genes that share phenotypes with KRTAP12-4: view

Clone 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 KRTAP12-4 Gene

Localization for KRTAP12-4 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 KRTAP12-4 gene
Compartment Confidence
cytosol 4
extracellular 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for KRTAP12-4 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 KRTAP12-4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP12-4 Gene

Pathways & Interactions for KRTAP12-4 Gene

SuperPathways for KRTAP12-4 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP12-4: view

Pathways by source for KRTAP12-4 Gene

2 Reactome pathways for KRTAP12-4 Gene

Gene Ontology (GO) - Biological Process for KRTAP12-4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP12-4: view

No data available for SIGNOR curated interactions for KRTAP12-4 Gene

Drugs & Compounds for KRTAP12-4 Gene

No Compound Related Data Available

Transcripts for KRTAP12-4 Gene

mRNA/cDNA for KRTAP12-4 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP12-4 Gene

No ASD Table

Relevant External Links for KRTAP12-4 Gene

GeneLoc Exon Structure for
KRTAP12-4
ECgene alternative splicing isoforms for
KRTAP12-4

Expression for KRTAP12-4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTAP12-4 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP12-4 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x48.2).

SOURCE GeneReport for Unigene cluster for KRTAP12-4 Gene:

Hs.689664

mRNA Expression by UniProt/SwissProt for KRTAP12-4 Gene:

P60329-KR124_HUMAN
Tissue specificity: Restricted to a narrow region of the hair fiber cuticle, lying approximately 20 cell layers above the apex of the dermal papilla of the hair root; not detected in any other tissues.

Evidence on tissue expression from TISSUES for KRTAP12-4 Gene

  • Skin(4)
  • Lung(2.7)
genes like me logo Genes that share expression patterns with KRTAP12-4: 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 and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP12-4 Gene

Orthologs for KRTAP12-4 Gene

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

Orthologs for KRTAP12-4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP12-4 33 34
  • 98.51 (n)
Species where no ortholog for KRTAP12-4 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 KRTAP12-4 Gene

ENSEMBL:
Gene Tree for KRTAP12-4 (if available)
TreeFam:
Gene Tree for KRTAP12-4 (if available)

Paralogs for KRTAP12-4 Gene

(4) SIMAP similar genes for KRTAP12-4 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for KRTAP12-4 Gene

genes like me logo Genes that share paralogs with KRTAP12-4: view

No data available for Paralogs for KRTAP12-4 Gene

Variants for KRTAP12-4 Gene

Sequence variations from dbSNP and Humsavar for KRTAP12-4 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1002764602 -- 44,654,461(-) C/A coding_sequence_variant, missense_variant
rs1003206995 -- 44,654,695(-) C/T upstream_transcript_variant
rs1007053549 -- 44,654,315(-) G/T coding_sequence_variant, synonymous_variant
rs1011285651 -- 44,654,384(-) C/A coding_sequence_variant, missense_variant
rs1012792991 -- 44,654,730(-) T/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KRTAP12-4 Gene

Variant ID Type Subtype PubMed ID
esv2723675 CNV deletion 23290073
esv2760705 CNV gain 21179565

Variation tolerance for KRTAP12-4 Gene

Residual Variation Intolerance Score: 47.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP12-4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP12-4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP12-4 Gene

Disorders for KRTAP12-4 Gene

Additional Disease Information for KRTAP12-4

No disorders were found for KRTAP12-4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP12-4 Gene

Publications for KRTAP12-4 Gene

  1. A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. (PMID: 15028290) Shibuya K … Shimizu N (Genomics 2004) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4 58
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  5. Hair keratin associated proteins: characterization of a second high sulfur KAP gene domain on human chromosome 21. (PMID: 14962103) Rogers MA … Schweizer J (The Journal of investigative dermatology 2004) 4 58

Products for KRTAP12-4 Gene

Sources for KRTAP12-4 Gene

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