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Aliases for KRTAP12-1 Gene

Aliases for KRTAP12-1 Gene

  • Keratin Associated Protein 12-1 2 3 5
  • High Sulfur Keratin-Associated Protein 12.1 3 4
  • Keratin-Associated Protein 12.1 3 4
  • KRTAP12.1 3 4
  • KAP12.1 3 4

External Ids for KRTAP12-1 Gene

Previous GeneCards Identifiers for KRTAP12-1 Gene

  • GC21U900088
  • GC21M044957
  • GC21M044925
  • GC21M046101
  • GC21M031475

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 KRTAP12-3.

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

Regulatory Elements for KRTAP12-1 Gene

Genomic Location for KRTAP12-1 Gene

Chromosome:
21
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

Genes around KRTAP12-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP12-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP12-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 & Families for KRTAP12-1 Gene

Gene Families for KRTAP12-1 Gene

Protein Domains for KRTAP12-1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP12-1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P59990

UniProtKB/Swiss-Prot:

KR121_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 KRTAP12-1: 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.

Phenotypes for KRTAP12-1 Gene

GenomeRNAi human phenotypes for KRTAP12-1:
genes like me logo Genes that share phenotypes with KRTAP12-1: view

Animal Model Products

CRISPR Products

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KRTAP12-1 Gene

Pathways & Interactions 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 and SIGNOR curated interactions for KRTAP12-1 Gene

Drugs & Compounds for KRTAP12-1 Gene

No Compound Related Data Available

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) (x44.9) and Skin - Sun Exposed (Lower leg) (x7.1).

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 expression patterns with KRTAP12-1: view

In Situ Assay Products

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 KRTAP12-1 Gene

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
mouse
(Mus musculus)
Mammalia LOC101056229 35
  • 74.04 (n)
  • 70.53 (a)
Gm29802 16
Gm10142 36
  • 50 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia KRTAP12-1 35
  • 96.18 (n)
  • 94.79 (a)
KRTAP12-1 36
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 41 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 61 (a)
ManyToMany
-- 36
  • 37 (a)
ManyToMany
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

(3) 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

Variation tolerance for KRTAP12-1 Gene

Residual Variation Intolerance Score: 83.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.84; 58.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP12-1 Gene

HapMap Linkage Disequilibrium report
KRTAP12-1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for KRTAP12-1 Gene

Disorders for KRTAP12-1 Gene

Relevant External Links for KRTAP12-1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP12-1

No disorders were found for KRTAP12-1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  3. 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. 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
  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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