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Aliases for KRTAP12-1 Gene

Aliases for KRTAP12-1 Gene

  • Keratin Associated Protein 12-1 2 3
  • High Sulfur Keratin-Associated Protein 12.1 3 4
  • Keratin-Associated Protein 12.1 3 4
  • KRTAP12.1 3 4
  • KAP12.1 3 4
  • Keratin-Associated Protein 12-1 3

External Ids for KRTAP12-1 Gene

Summaries for KRTAP12-1 Gene

GeneCards Summary for KRTAP12-1 Gene

KRTAP12-1 (Keratin Associated Protein 12-1) is a Protein Coding gene. An important paralog of this gene is KRTAP12-2.

UniProtKB/Swiss-Prot for KRTAP12-1 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 KRTAP12-1 Gene

Genomics for KRTAP12-1 Gene

Genomic Location for KRTAP12-1 Gene

Start:
44,681,576 bp from pter
End:
44,682,163 bp from pter
Size:
588 bases
Orientation:
Minus strand

Genomic View for KRTAP12-1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KRTAP12-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP12-1 Gene

Regulatory Elements for KRTAP12-1 Gene

Proteins for KRTAP12-1 Gene

  • Protein details for KRTAP12-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P59990-KR121_HUMAN
    Recommended name:
    Keratin-associated protein 12-1
    Protein Accession:
    P59990
    Secondary Accessions:
    • Q0VAS3

    Protein attributes for KRTAP12-1 Gene

    Size:
    96 amino acids
    Molecular mass:
    9737 Da
    Quaternary structure:
    • Interacts with hair keratins

neXtProt entry for KRTAP12-1 Gene

Proteomics data for KRTAP12-1 Gene at MOPED

Post-translational modifications for KRTAP12-1 Gene

No Post-translational modifications

Other Protein References for KRTAP12-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP12-1 Gene

Domains for KRTAP12-1 Gene

Gene Families for KRTAP12-1 Gene

HGNC:
  • KRTAP :Keratin associated proteins

Protein Domains for KRTAP12-1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

KR121_HUMAN
Family:
  • Belongs to the KRTAP type 12 family.:
    • P59990
genes like me logo Genes that share domains with KRTAP12-1: view

Function for KRTAP12-1 Gene

Molecular function for KRTAP12-1 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 KRTAP12-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRTAP12-1: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KRTAP12-1 Gene

Localization for KRTAP12-1 Gene

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for KRTAP12-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP12-1: view

Pathways for KRTAP12-1 Gene

SuperPathways for KRTAP12-1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KRTAP12-1 Gene

None

No data available for Pathways by source for KRTAP12-1 Gene

Transcripts for KRTAP12-1 Gene

mRNA/cDNA for KRTAP12-1 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP12-1 Gene

No ASD Table

Relevant External Links for KRTAP12-1 Gene

GeneLoc Exon Structure for
KRTAP12-1
ECgene alternative splicing isoforms for
KRTAP12-1

Expression for KRTAP12-1 Gene

mRNA expression in normal human tissues for KRTAP12-1 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP12-1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (44.9) and Skin - Sun Exposed (Lower leg) (7.1).

SOURCE GeneReport for Unigene cluster for KRTAP12-1 Gene Hs.688628

mRNA Expression by UniProt/SwissProt for KRTAP12-1 Gene

P59990-KR121_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 KRTAP12-1: view

Orthologs for KRTAP12-1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP12-1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP12-1 36
  • 96.18 (n)
  • 94.79 (a)
KRTAP12-1 37
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 41 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 37
  • 61 (a)
ManyToMany
-- 37
  • 37 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Gm10142 37
  • 50 (a)
ManyToMany
LOC101056229 36
  • 74.04 (n)
  • 70.53 (a)
Species with no ortholog for KRTAP12-1:
  • 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 KRTAP12-1 Gene

ENSEMBL:
Gene Tree for KRTAP12-1 (if available)
TreeFam:
Gene Tree for KRTAP12-1 (if available)

Paralogs for KRTAP12-1 Gene

Paralogs for KRTAP12-1 Gene

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

genes like me logo Genes that share paralogs with KRTAP12-1: view

Variants for KRTAP12-1 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRTAP12-1 Gene

Variant ID Type Subtype PubMed ID
nsv913950 CNV Gain 21882294
esv2723675 CNV Deletion 23290073
esv2723676 CNV Deletion 23290073
dgv4775n71 CNV Loss 21882294
nsv913957 CNV Loss 21882294

Relevant External Links for KRTAP12-1 Gene

HapMap Linkage Disequilibrium report
KRTAP12-1

No data available for Sequence variations from dbSNP and Humsavar for KRTAP12-1 Gene

Disorders for KRTAP12-1 Gene

No disorders were found for KRTAP12-1 Gene.

No data available for UniProtKB/Swiss-Prot for KRTAP12-1 Gene

Publications for KRTAP12-1 Gene

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

Products for KRTAP12-1 Gene

Sources for KRTAP12-1 Gene

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