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Aliases for KRTAP12-3 Gene

Aliases for KRTAP12-3 Gene

  • Keratin Associated Protein 12-3 2 3
  • High Sulfur Keratin-Associated Protein 12.3 3 4
  • Keratin-Associated Protein 12.3 3 4
  • KRTAP12.3 3 4
  • Keratin-Associated Protein 12-3 3
  • KAP12.3 4

External Ids for KRTAP12-3 Gene

Summaries for KRTAP12-3 Gene

GeneCards Summary for KRTAP12-3 Gene

KRTAP12-3 (Keratin Associated Protein 12-3) is a Protein Coding gene. An important paralog of this gene is KRTAP12-2.

UniProtKB/Swiss-Prot for KRTAP12-3 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 KRTAP12-3 Gene

Genomics for KRTAP12-3 Gene

Genomic Location for KRTAP12-3 Gene

Start:
44,646,657 bp from pter
End:
44,658,341 bp from pter
Size:
11,685 bases
Orientation:
Plus strand

Genomic View for KRTAP12-3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KRTAP12-3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP12-3 Gene

Regulatory Elements for KRTAP12-3 Gene

Proteins for KRTAP12-3 Gene

  • Protein details for KRTAP12-3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P60328-KR123_HUMAN
    Recommended name:
    Keratin-associated protein 12-3
    Protein Accession:
    P60328
    Secondary Accessions:

    Protein attributes for KRTAP12-3 Gene

    Size:
    96 amino acids
    Molecular mass:
    9947 Da
    Quaternary structure:
    • Interacts with hair keratins

neXtProt entry for KRTAP12-3 Gene

Proteomics data for KRTAP12-3 Gene at MOPED

Post-translational modifications for KRTAP12-3 Gene

No Post-translational modifications

Other Protein References for KRTAP12-3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP12-3 Gene

Domains for KRTAP12-3 Gene

Gene Families for KRTAP12-3 Gene

HGNC:
  • KRTAP :Keratin associated proteins

Protein Domains for KRTAP12-3 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

KR123_HUMAN
Family:
  • Belongs to the KRTAP type 12 family.:
    • P60328
genes like me logo Genes that share domains with KRTAP12-3: view

Function for KRTAP12-3 Gene

Molecular function for KRTAP12-3 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 KRTAP12-3 Gene

GenomeRNAi human phenotypes for KRTAP12-3:
genes like me logo Genes that share phenotypes with KRTAP12-3: view

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KRTAP12-3 Gene

Localization for KRTAP12-3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP12-3 Gene COMPARTMENTS Subcellular localization image for KRTAP12-3 gene
Compartment Confidence
extracellular 3
cytoskeleton 2
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KRTAP12-3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP12-3: view

Pathways for KRTAP12-3 Gene

SuperPathways for KRTAP12-3 Gene

No Data Available

Interacting Proteins for KRTAP12-3 Gene

Gene Ontology (GO) - Biological Process for KRTAP12-3 Gene

None

No data available for Pathways by source for KRTAP12-3 Gene

Transcripts for KRTAP12-3 Gene

mRNA/cDNA for KRTAP12-3 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP12-3 Gene

No ASD Table

Relevant External Links for KRTAP12-3 Gene

GeneLoc Exon Structure for
KRTAP12-3
ECgene alternative splicing isoforms for
KRTAP12-3

Expression for KRTAP12-3 Gene

mRNA expression in normal human tissues for KRTAP12-3 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP12-3 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (47.7) and Skin - Sun Exposed (Lower leg) (4.5).

SOURCE GeneReport for Unigene cluster for KRTAP12-3 Gene Hs.528023

mRNA Expression by UniProt/SwissProt for KRTAP12-3 Gene

P60328-KR123_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 expressions with KRTAP12-3: view

Orthologs for KRTAP12-3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP12-3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP12-3 37
  • 96 (a)
OneToOne
LOC100612403 36
  • 98.26 (n)
  • 95.83 (a)
cow
(Bos Taurus)
Mammalia -- 37
  • 34 (a)
ManyToMany
KRTAP12-2 37
  • 42 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 37
  • 53 (a)
ManyToMany
-- 37
  • 63 (a)
ManyToMany
-- 37
  • 37 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Gm10100 37
  • 48 (a)
ManyToMany
Gm10272 37
  • 54 (a)
ManyToMany
Krtap12-1 37
  • 45 (a)
ManyToMany
Species with no ortholog for KRTAP12-3:
  • 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)
  • 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 KRTAP12-3 Gene

ENSEMBL:
Gene Tree for KRTAP12-3 (if available)
TreeFam:
Gene Tree for KRTAP12-3 (if available)

Paralogs for KRTAP12-3 Gene

Paralogs for KRTAP12-3 Gene

Selected SIMAP similar genes for KRTAP12-3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KRTAP12-3: view

Variants for KRTAP12-3 Gene

Sequence variations from dbSNP and Humsavar for KRTAP12-3 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
VAR_017592 -

Structural Variations from Database of Genomic Variants (DGV) for KRTAP12-3 Gene

Variant ID Type Subtype PubMed ID
nsv913950 CNV Gain 21882294
esv2723675 CNV Deletion 23290073
nsv913954 CNV Loss 21882294
nsv913955 CNV Loss 21882294

Relevant External Links for KRTAP12-3 Gene

HapMap Linkage Disequilibrium report
KRTAP12-3

Disorders for KRTAP12-3 Gene

No disorders were found for KRTAP12-3 Gene.

No data available for UniProtKB/Swiss-Prot for KRTAP12-3 Gene

Publications for KRTAP12-3 Gene

  1. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 3 4
  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
  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

Products for KRTAP12-3 Gene

  • QIAGEN qRT-PCR Assays for microRNAs that regulate KRTAP12-3
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for KRTAP12-3
    • Block miRNA regulation of KRTAP12-3 using miScript Target Protectors

    Sources for KRTAP12-3 Gene

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