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Aliases for KRTAP10-12 Gene

Aliases for KRTAP10-12 Gene

  • Keratin Associated Protein 10-12 2 3 5
  • High Sulfur Keratin-Associated Protein 10.12 3 4
  • Keratin-Associated Protein 18-12 3 4
  • KRTAP18-12 3 4
  • KRTAP18.12 3 4
  • KAP10.12 3 4
  • Keratin Associated Protein 18-12 2
  • Keratin-Associated Protein 10-12 3
  • Keratin-Associated Protein 10.12 4
  • Keratin-Associated Protein 18.12 4
  • KRTAP10.12 4
  • KAP18-12 4

External Ids for KRTAP10-12 Gene

Previous HGNC Symbols for KRTAP10-12 Gene

  • KRTAP18-12

Previous GeneCards Identifiers for KRTAP10-12 Gene

  • GC21P044942
  • GC21P046117
  • GC21P031491

Summaries for KRTAP10-12 Gene

GeneCards Summary for KRTAP10-12 Gene

KRTAP10-12 (Keratin Associated Protein 10-12) is a Protein Coding gene. Among its related pathways are Developmental Biology. An important paralog of this gene is KRTAP10-4.

UniProtKB/Swiss-Prot for KRTAP10-12 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 KRTAP10-12 Gene

Genomics for KRTAP10-12 Gene

Regulatory Elements for KRTAP10-12 Gene


Enhancers around KRTAP10-12 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP10-12 Gene

Chromosome:
21
Start:
44,697,172 bp from pter
End:
44,698,044 bp from pter
Size:
873 bases
Orientation:
Plus strand

Genomic View for KRTAP10-12 Gene

Genes around KRTAP10-12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP10-12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP10-12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP10-12 Gene

Proteins for KRTAP10-12 Gene

  • Protein details for KRTAP10-12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P60413-KR10C_HUMAN
    Recommended name:
    Keratin-associated protein 10-12
    Protein Accession:
    P60413
    Secondary Accessions:
    • B2RPA3

    Protein attributes for KRTAP10-12 Gene

    Size:
    245 amino acids
    Molecular mass:
    25107 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP10-12 Gene

Post-translational modifications for KRTAP10-12 Gene

No Post-translational modifications

Other Protein References for KRTAP10-12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP10-12 Gene

Domains & Families for KRTAP10-12 Gene

Gene Families for KRTAP10-12 Gene

Protein Domains for KRTAP10-12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP10-12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P60413

UniProtKB/Swiss-Prot:

KR10C_HUMAN :
  • Belongs to the KRTAP type 10 family.
Family:
  • Belongs to the KRTAP type 10 family.
genes like me logo Genes that share domains with KRTAP10-12: view

Function for KRTAP10-12 Gene

Molecular function for KRTAP10-12 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.

Phenotypes for KRTAP10-12 Gene

GenomeRNAi human phenotypes for KRTAP10-12:
genes like me logo Genes that share phenotypes with KRTAP10-12: view

Animal Model Products

miRNA for KRTAP10-12 Gene

miRTarBase miRNAs that target KRTAP10-12

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP10-12 Gene

Localization for KRTAP10-12 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP10-12 Gene COMPARTMENTS Subcellular localization image for KRTAP10-12 gene
Compartment Confidence
cytoskeleton 2
cytosol 2
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for KRTAP10-12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP10-12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP10-12 Gene

Pathways & Interactions for KRTAP10-12 Gene

SuperPathways for KRTAP10-12 Gene

SuperPathway Contained pathways
1 Developmental Biology
genes like me logo Genes that share pathways with KRTAP10-12: view

Pathways by source for KRTAP10-12 Gene

1 Reactome pathway for KRTAP10-12 Gene

Interacting Proteins for KRTAP10-12 Gene

Gene Ontology (GO) - Biological Process for KRTAP10-12 Gene

None

No data available for SIGNOR curated interactions for KRTAP10-12 Gene

Transcripts for KRTAP10-12 Gene

mRNA/cDNA for KRTAP10-12 Gene

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

Unigene Clusters for KRTAP10-12 Gene

Keratin associated protein 10-12:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP10-12 Gene

No ASD Table

Relevant External Links for KRTAP10-12 Gene

GeneLoc Exon Structure for
KRTAP10-12
ECgene alternative splicing isoforms for
KRTAP10-12

Expression for KRTAP10-12 Gene

mRNA expression in normal human tissues for KRTAP10-12 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP10-12 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x45.1) and Skin - Sun Exposed (Lower leg) (x6.9).

SOURCE GeneReport for Unigene cluster for KRTAP10-12 Gene:

Hs.297526

mRNA Expression by UniProt/SwissProt for KRTAP10-12 Gene:

P60413-KR10C_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.
genes like me logo Genes that share expression patterns with KRTAP10-12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KRTAP10-12 Gene

Orthologs for KRTAP10-12 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP10-12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP10-12 34 35
  • 97.01 (n)
mouse
(Mus musculus)
Mammalia Gm7137 35
  • 53 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 51 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia KRTAP10-8 35
  • 50 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 48 (a)
ManyToMany
-- 35
  • 35 (a)
ManyToMany
Species where no ortholog for KRTAP10-12 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)
  • 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 KRTAP10-12 Gene

ENSEMBL:
Gene Tree for KRTAP10-12 (if available)
TreeFam:
Gene Tree for KRTAP10-12 (if available)

Paralogs for KRTAP10-12 Gene

Variants for KRTAP10-12 Gene

Sequence variations from dbSNP and Humsavar for KRTAP10-12 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs111709443 -- 44,698,103(+) CTGGG(A/G)GCTCC intron-variant, downstream-variant-500B
rs111917409 -- 44,696,182(+) CTTTT(C/T)TATAG intron-variant, upstream-variant-2KB
rs112431728 -- 44,697,831(+) GTGCC(C/T)GTCCC intron-variant, reference, synonymous-codon
rs113165435 -- 44,698,349(+) CACAG(A/G)TGCAG intron-variant, downstream-variant-500B
rs113230644 -- 44,697,108(+) CAGAC(A/G)CTCAC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KRTAP10-12 Gene

Variant ID Type Subtype PubMed ID
esv2723675 CNV deletion 23290073
esv2723677 CNV deletion 23290073
nsv1120413 CNV tandem duplication 24896259
nsv587811 CNV loss 21841781

Variation tolerance for KRTAP10-12 Gene

Residual Variation Intolerance Score: 89.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.44; 88.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP10-12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP10-12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP10-12 Gene

Disorders for KRTAP10-12 Gene

Relevant External Links for KRTAP10-12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP10-12

No disorders were found for KRTAP10-12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP10-12 Gene

Publications for KRTAP10-12 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 64
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 3 4 64
  3. Hair keratin associated proteins: characterization of a second high sulfur KAP gene domain on human chromosome 21. (PMID: 14962103) Rogers M.A. … Schweizer J. (J. Invest. Dermatol. 2004) 4 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 KRTAP10-12 Gene

Sources for KRTAP10-12 Gene

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