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Aliases for KRTAP1-4 Gene

Aliases for KRTAP1-4 Gene

  • Keratin Associated Protein 1-4 2 3 5
  • High Sulfur Keratin-Associated Protein 1.4 3 4
  • Keratin-Associated Protein 1.4 3 4
  • KRTAP1.4 3 4
  • KAP1.4 3 4
  • Keratin-Associated Protein 1-4 3

External Ids for KRTAP1-4 Gene

Previous GeneCards Identifiers for KRTAP1-4 Gene

  • GC17U990281
  • GC17M036447
  • GC17M039187

Summaries for KRTAP1-4 Gene

Entrez Gene Summary for KRTAP1-4 Gene

  • The main structural proteins of mammalian hair fiber are the hair keratins (see MIM 601077) and the keratin-associated proteins (KAPs), which form a rigid and resistant hair shaft through extensive disulfide bond crosslinking with the abundant cysteines of hair keratins (Shimomura et al., 2002 [PubMed 12228244]).[supplied by OMIM, Jan 2009]

GeneCards Summary for KRTAP1-4 Gene

KRTAP1-4 (Keratin Associated Protein 1-4) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology. An important paralog of this gene is KRTAP1-1.

UniProtKB/Swiss-Prot for KRTAP1-4 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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP1-4 Gene

Genomics for KRTAP1-4 Gene

Regulatory Elements for KRTAP1-4 Gene

Enhancers for KRTAP1-4 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
GH17G040948 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10 +75.4 75412 11.7 HNRNPUL1 PKNOX1 FOXA2 MLX ZFP64 ARID4B DMAP1 SLC30A9 ZNF143 FOS KRTAP3-2 KRT23 KRTAP2-1 KRT39 KRT40 KRTAP2-2 ENSG00000234477 KRTAP3-3 KRTAP1-5 KRTAP3-1
GH17G041058 1.4 Ensembl ENCODE dbSUPER 11.8 -30.9 -30922 5.7 FOXA2 PKNOX1 FOS SP5 PPARG KAT8 MIER3 RCOR2 PBX2 ETV4 KRTAP1-3 KRTAP1-4 KRTAP1-5 KRTAP2-3 KRT38 KRT27 KRTAP2-4
GH17G041338 1.2 Ensembl ENCODE dbSUPER 9.8 -310.9 -310887 6.0 PAF1 PKNOX1 MTA2 BHLHE40 YBX1 EBF1 TBX21 RELA GATA3 NBN KRT38 KRTAP16-1 KRTAP29-1 KRT31 LOC100505782 KRTAP17-1 KRTAP9-6 KRT37 ENSG00000234477 KRT32
GH17G040857 1.1 Ensembl ENCODE 9.2 +172.9 172861 0.3 HDGF ZNF2 RAD21 CHAMP1 GTF3C2 ZNF121 RCOR1 SMARCA5 ZNF654 ZNF362 THRA ENSG00000259623 ENSG00000266208 KRT20 KRT28 KRT222 KRTAP1-5 KRT37 KRTAP1-4 KRT31
GH17G040858 0.7 ENCODE 9.2 +172.5 172482 0.2 ZNF197 GTF2E2 NR4A1 USF2 GABPA ZNF83 ZNF507 ZNF592 ZNF766 GATA2 TMEM99 KRT20 KRT28 KRTAP1-4 LOC100505782 KRT31 GC17P040928 KRT12
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRTAP1-4 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP1-4 Gene

Chromosome:
17
Start:
41,029,677 bp from pter
End:
41,030,125 bp from pter
Size:
449 bases
Orientation:
Minus strand

Genomic View for KRTAP1-4 Gene

Genes around KRTAP1-4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP1-4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP1-4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP1-4 Gene

Proteins for KRTAP1-4 Gene

  • Protein details for KRTAP1-4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C5Y4-KRA14_HUMAN
    Recommended name:
    Keratin-associated protein 1-4
    Protein Accession:
    P0C5Y4
    Secondary Accessions:
    • A6NJ92

    Protein attributes for KRTAP1-4 Gene

    Size:
    121 amino acids
    Molecular mass:
    12324 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP1-4 Gene

Post-translational modifications for KRTAP1-4 Gene

No Post-translational modifications

Other Protein References for KRTAP1-4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP1-4 Gene

Domains & Families for KRTAP1-4 Gene

Gene Families for KRTAP1-4 Gene

Protein Domains for KRTAP1-4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP1-4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P0C5Y4

UniProtKB/Swiss-Prot:

KRA14_HUMAN :
  • Belongs to the KRTAP type 1 family.
Family:
  • Belongs to the KRTAP type 1 family.
genes like me logo Genes that share domains with KRTAP1-4: view

Function for KRTAP1-4 Gene

Molecular function for KRTAP1-4 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.

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP1-4 Gene

Localization for KRTAP1-4 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 KRTAP1-4 gene
Compartment Confidence
cytosol 5
extracellular 2
cytoskeleton 2
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP1-4 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 KRTAP1-4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP1-4 Gene

Pathways & Interactions for KRTAP1-4 Gene

SuperPathways for KRTAP1-4 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP1-4: view

Pathways by source for KRTAP1-4 Gene

2 Reactome pathways for KRTAP1-4 Gene

Interacting Proteins for KRTAP1-4 Gene

Gene Ontology (GO) - Biological Process for KRTAP1-4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP1-4: view

No data available for SIGNOR curated interactions for KRTAP1-4 Gene

Drugs & Compounds for KRTAP1-4 Gene

No Compound Related Data Available

Transcripts for KRTAP1-4 Gene

mRNA/cDNA for KRTAP1-4 Gene

(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP1-4 Gene

No ASD Table

Relevant External Links for KRTAP1-4 Gene

GeneLoc Exon Structure for
KRTAP1-4
ECgene alternative splicing isoforms for
KRTAP1-4

Expression for KRTAP1-4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTAP1-4 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP1-4 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x46.6) and Skin - Sun Exposed (Lower leg) (x5.1).

SOURCE GeneReport for Unigene cluster for KRTAP1-4 Gene:

Hs.744827

mRNA Expression by UniProt/SwissProt for KRTAP1-4 Gene:

P0C5Y4-KRA14_HUMAN
Tissue specificity: Expressed in the middle/upper portions of the hair cortex, in the region termed the keratogenous zone.
genes like me logo Genes that share expression patterns with KRTAP1-4: 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP1-4 Gene

Orthologs for KRTAP1-4 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP1-4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP1-4 34
  • 98.9 (n)
mouse
(Mus musculus)
Mammalia Krtap1-5 35
  • 74 (a)
ManyToMany
Krtap9-3 35
  • 65 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 58 (a)
ManyToMany
KRTAP1-1 35
  • 56 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 35 (a)
OneToMany
Species where no ortholog for KRTAP1-4 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)
  • dog (Canis familiaris)
  • 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 KRTAP1-4 Gene

ENSEMBL:
Gene Tree for KRTAP1-4 (if available)
TreeFam:
Gene Tree for KRTAP1-4 (if available)

Paralogs for KRTAP1-4 Gene

Paralogs for KRTAP1-4 Gene

(4) SIMAP similar genes for KRTAP1-4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KRTAP1-4: view

Variants for KRTAP1-4 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRTAP1-4 Gene

Variant ID Type Subtype PubMed ID
esv3640559 CNV gain 21293372
esv3640560 CNV gain 21293372
nsv1146669 OTHER inversion 26484159
nsv575002 CNV loss 21841781
nsv575005 CNV loss 21841781
nsv9550 CNV loss 18304495

Variation tolerance for KRTAP1-4 Gene

Residual Variation Intolerance Score: 83.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.52; 77.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP1-4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP1-4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for KRTAP1-4 Gene

Disorders for KRTAP1-4 Gene

Relevant External Links for KRTAP1-4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP1-4

No disorders were found for KRTAP1-4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP1-4 Gene

Publications for KRTAP1-4 Gene

  1. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody M.C. … Nusbaum C. (Nature 2006) 3 4 64
  2. Characterization of a cluster of human high/ultrahigh sulfur keratin- associated protein genes embedded in the type I keratin gene domain on chromosome 17q12-21. (PMID: 11279113) Rogers M.A. … Schweizer J. (J. Biol. Chem. 2001) 3 4 64
  3. Polymorphisms in the human high sulfur hair keratin-associated protein 1, KAP1, gene family. (PMID: 12228244) Shimomura Y. … Ito M. (J. Biol. Chem. 2002) 3 64

Products for KRTAP1-4 Gene

Sources for KRTAP1-4 Gene

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