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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

Regulatory Elements for KRTAP12-4 Gene

Enhancers for KRTAP12-4 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
GH21H045589 1.8 FANTOM5 Ensembl ENCODE 14.6 -936.8 -936786 3 HDGF PKNOX1 ARNT YBX1 ZNF2 ZBTB7B ZNF143 ZNF207 ZNF548 SP3 ENSG00000228137 MCM3AP DIP2A MCM3AP-AS1 UBE2G2 POFUT2 COL6A1 ENSG00000215447 ENSG00000227438 COL6A2
GH21H045508 0.9 dbSUPER 14.6 -854.4 -854366 0 ZNF493 INSM2 GLI4 RARA YY1 ZNF366 ZNF354C EGR2 REST ZNF645 UBE2G2 COL6A1 MCM3AP DIP2A ENSG00000228137 ENSG00000228235 KRTAP10-12 KRTAP12-4 KRTAP10-5 KRTAP12-1
GH21H045134 1.4 Ensembl ENCODE dbSUPER 5.4 -482.2 -482234 4 HDGF PKNOX1 ARNT ZNF2 ZNF143 ATF7 RUNX3 DEK REST SMARCA4 SSR4P1 ADARB1 ENSG00000228355 MTCO1P3 LINC00334 LINC00205 LINC00315 KRTAP12-4 LOC105372835 GC21M045516
GH21H044003 0.5 dbSUPER 14.6 +650.4 650408 1 ZNF121 PKNOX1 SCRT2 ZNF645 PWP2 KRTAP10-3 KRTAP10-6 KRTAP12-4 KRTAP12-1 KRTAP10-5 KRTAP10-9 KRTAP10-12 MRPL51P2 C21orf33
GH21H044567 0.5 ENCODE 10.7 +88.1 88067 0 FOSL1 JUNB FOXJ2 KRTAP10-1 TSPEAR-AS2 KRTAP12-3 IMMTP1 KRTAP12-1 KRTAP12-4 KRTAP10-4 KRTAP10-3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Genomic Location for KRTAP12-4 Gene

Chromosome:
21
Start:
44,654,213 bp from pter
End:
44,654,659 bp from pter
Size:
447 bases
Orientation:
Minus strand

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

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for KRTAP12-4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 :

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for KRTAP12-4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 Sequence Context AA Info Type
rs1002764602 -- 44,654,461(+) GGATA(A/C)CCCAC intron-variant, reference, missense
rs1003206995 -- 44,654,695(+) CCAGG(C/T)TACCG intron-variant, upstream-variant-2KB
rs1007053549 -- 44,654,315(+) CTATA(G/T)ACCAG intron-variant, reference, synonymous-codon
rs1011285651 -- 44,654,384(+) ACAGG(A/C)TTGCA intron-variant, reference, missense
rs1012792991 -- 44,654,730(+) CATCT(A/T)CCTCG intron-variant, upstream-variant-2KB

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)

Relevant External Links 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

Relevant External Links for KRTAP12-4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. 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 60
  2. 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 60
  3. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4 60
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 60
  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 60

Products for KRTAP12-4 Gene

Sources for KRTAP12-4 Gene

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