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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 Keratinization and 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.

Additional gene information for KRTAP10-12 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 KRTAP10-12 Gene

Genomics for KRTAP10-12 Gene

GeneHancer (GH) Regulatory Elements for KRTAP10-12 Gene

Promoters and enhancers for KRTAP10-12 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
GH21I044697 Enhancer 0.7 ENCODE 550.8 +1.1 1135 1.2 SAP130 ZFP64 KLF17 ZIC2 ZNF644 RARA TEAD3 ZFHX2 POLR2A EGR2 KRTAP10-12 TSPEAR KRTAP10-13P
GH21I044698 Promoter 0.5 EPDnew 550.8 -0.1 -75 0.1 KRTAP10-12 ENSG00000276647 TSPEAR
GH21I044916 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 2.7 +227.4 227442 16.8 HDGF PKNOX1 CLOCK SMAD1 NEUROD1 SIN3A FEZF1 ZBTB7B IRF4 ZNF207 ITGB2 POFUT2 UBE2G2 ENSG00000273027 TRPM2 ENSG00000184441 PTTG1IP ITGB2-AS1 ENSG00000215447 C21orf2
GH21I044656 Promoter/Enhancer 1.1 EPDnew FANTOM5 ENCODE 3.4 -39.0 -39013 2.9 KLF1 KLF17 SETDB1 KRTAP12-3 KRTAP10-1 KRTAP12-1 IMMTP1 KRTAP10-2 KRTAP10-12 KRTAP10-10 KRTAP12-4 GC21M045668 TSPEAR
GH21I045073 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.4 +378.0 378031 4 HNRNPUL1 PKNOX1 CLOCK SMAD1 FOXA2 ARNT ARID4B NEUROD1 SIN3A ZNF2 SSR4P1 ADARB1 LOC105372836 POFUT2 ENSG00000184441 UBE2G2 ENSG00000215447 COL6A1 PWP2 LINC00315
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

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

Top Transcription factor binding sites by QIAGEN in the KRTAP10-12 gene promoter:

Genomic Locations for KRTAP10-12 Gene

Genomic Locations for KRTAP10-12 Gene
chr21:44,697,172-44,698,044
(GRCh38/hg38)
Size:
873 bases
Orientation:
Plus strand
chr21:46,117,087-46,117,959
(GRCh37/hg19)

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

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

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

miRNA for KRTAP10-12 Gene

miRTarBase miRNAs that target KRTAP10-12

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 KRTAP10-12 gene
Compartment Confidence
cytosol 5
cytoskeleton 2
nucleus 2
extracellular 1

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP10-12 Gene

Pathways & Interactions for KRTAP10-12 Gene

SuperPathways for KRTAP10-12 Gene

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

Pathways by source for KRTAP10-12 Gene

2 Reactome pathways for KRTAP10-12 Gene

Interacting Proteins for KRTAP10-12 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP10-12: view

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

Drugs & Compounds for KRTAP10-12 Gene

No Compound Related Data Available

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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for KRTAP10-12 Gene

  • Skin(4)
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 , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 97.01 (n)
mouse
(Mus musculus)
Mammalia Gm7137 34
  • 53 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 51 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia KRTAP10-8 34
  • 50 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 48 (a)
ManyToMany
-- 34
  • 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

(10) SIMAP similar genes for KRTAP10-12 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KRTAP10-12: view

Variants for KRTAP10-12 Gene

Sequence variations from dbSNP and Humsavar for KRTAP10-12 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1000534138 -- 44,695,605(+) T/A upstream_transcript_variant
rs1001898765 -- 44,696,587(+) T/C upstream_transcript_variant
rs1002571000 -- 44,698,271(+) C/A downstream_transcript_variant
rs1003571584 -- 44,697,411(+) C/G coding_sequence_variant, missense_variant
rs1004144569 -- 44,696,853(+) C/G/T upstream_transcript_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 58
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4 58
  3. 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
  4. 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) 4 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for KRTAP10-12 Gene

Sources for KRTAP10-12 Gene

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