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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
  • Keratin-Associated Protein 12-1 3

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. Among its related pathways are Keratinization and Developmental Biology. 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 , CIViC 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

Enhancers for KRTAP12-1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21G044876 2 FANTOM5 Ensembl ENCODE dbSUPER 7.7 -198.6 -198644 8.0 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT AGO1 ARID4B DMAP1 YY1 PTTG1IP SUMO3 LINC01424 UBE2G2 ENSG00000215447 KRTAP10-6 KRTAP12-2 KRTAP10-11 KRTAP12-1 ITGB2
GH21G044656 1 FANTOM5 ENCODE 11.6 +24.0 24005 2.9 KLF1 ZNF146 BHLHE40 HLF ZNF223 SIN3A KLF17 MNT ZNF2 JUND KRTAP10-1 KRTAP12-1 IMMTP1 KRTAP10-2 KRTAP10-12 KRTAP10-10 KRTAP12-4 KRTAP12-3 GC21M045392
GH21G044791 1.1 Ensembl ENCODE 10.2 -110.8 -110799 2.9 HDAC1 FOXA2 CBX3 RB1 KLF17 ZNF48 RAD21 YY1 ZNF143 ZNF548 UBE2G2 SUMO3 TSPEAR-AS1 TSPEAR-AS2 KRTAP10-1 KRTAP10-2 PTTG1IP IMMTP1 KRTAP12-1 PWP2
GH21G044618 0.9 Ensembl ENCODE 11.3 +63.1 63077 2.0 CTCF CBX3 L3MBTL2 RAD21 CBX1 ZFHX2 CBX5 EGR1 FOS TRIM28 KRTAP10-11 KRTAP12-3 IMMTP1 KRTAP12-1 KRTAP10-2 KRTAP10-1 TSPEAR-AS1 KRTAP10-6 KRTAP10-8 KRTAP10-9
GH21G044567 0.6 ENCODE 10.7 +115.6 115571 0.2 CTCF JUNB FOSL1 ARID3A JUND GLIS2 ATF3 GLIS1 FOXJ2 KRTAP10-1 TSPEAR-AS2 KRTAP12-3 IMMTP1 KRTAP12-1 KRTAP12-4 KRTAP10-4 KRTAP10-3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

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

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.

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

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

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
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 KRTAP12-1 gene
Compartment Confidence
cytosol 5
extracellular 3
cytoskeleton 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

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

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

Pathways & Interactions for KRTAP12-1 Gene

SuperPathways for KRTAP12-1 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP12-1: view

Pathways by source for KRTAP12-1 Gene

2 Reactome pathways for KRTAP12-1 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP12-1: view

No data available for SIGNOR curated interactions 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 :

CRISPR Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for KRTAP12-1 Gene

  • Skin(4.1)
genes like me logo Genes that share expression patterns with KRTAP12-1: 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 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
chimpanzee
(Pan troglodytes)
Mammalia KRTAP12-1 34 35
  • 96.18 (n)
mouse
(Mus musculus)
Mammalia LOC101056229 34
  • 74.04 (n)
Gm10142 35
  • 50 (a)
ManyToMany
Gm29802 16
dog
(Canis familiaris)
Mammalia -- 35
  • 61 (a)
ManyToMany
-- 35
  • 37 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 41 (a)
ManyToMany
Species where no ortholog for KRTAP12-1 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)
  • 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

Sequence variations from dbSNP and Humsavar for KRTAP12-1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000844834 -- 44,682,357(+) CTCTT(C/G)TTACA intron-variant, upstream-variant-2KB
rs1000983479 -- 44,682,891(+) GGATC(C/T)GTGTG intron-variant, upstream-variant-2KB
rs1002451053 -- 44,683,236(+) CCACC(C/T)TAGCA intron-variant, upstream-variant-2KB
rs1004450692 -- 44,683,563(+) ACACG(G/T)TAGGT intron-variant, upstream-variant-2KB
rs1004761520 -- 44,683,292(+) ACTGA(C/T)GGCTA intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv2723675 CNV deletion 23290073
esv2723676 CNV deletion 23290073
esv2760705 CNV gain 21179565
nsv587811 CNV loss 21841781

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP12-1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 64
  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 64
  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 64
  4. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 3 4 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for KRTAP12-1 Gene

Sources for KRTAP12-1 Gene

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