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Aliases for KRTAP4-6 Gene

Aliases for KRTAP4-6 Gene

  • Keratin Associated Protein 4-6 2 3 5
  • Ultrahigh Sulfur Keratin-Associated Protein 4.15 3 4
  • Keratin Associated Protein 4-15 2 3
  • Keratin-Associated Protein 4.6 3 4
  • KRTAP4-15 3 4
  • KRTAP4.15 3 4
  • KAP4.15 3 4
  • Keratin-Associated Protein 4-15 4
  • Keratin-Associated Protein 4.15 4
  • Keratin-Associated Protein 4-6 3
  • KRTAP4.6 4
  • KAP4.6 3

External Ids for KRTAP4-6 Gene

Previous HGNC Symbols for KRTAP4-6 Gene

  • KRTAP4-15

Previous GeneCards Identifiers for KRTAP4-6 Gene

  • GC17U990273
  • GC17M036550
  • GC17M039295
  • GC17M035070

Summaries for KRTAP4-6 Gene

GeneCards Summary for KRTAP4-6 Gene

KRTAP4-6 (Keratin Associated Protein 4-6) is a Protein Coding gene. Among its related pathways are Developmental Biology. An important paralog of this gene is KRTAP4-12.

UniProtKB/Swiss-Prot for KRTAP4-6 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 KRTAP4-6 Gene

Genomics for KRTAP4-6 Gene

Regulatory Elements for KRTAP4-6 Gene

Enhancers for KRTAP4-6 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
GH17F041119 1.1 Ensembl ENCODE 17.9 +20.1 20087 1.2 ZNF366 ZNF512 CEBPB MAFK PRDM1 KRTAP4-6 KRTAP4-11 KRTAP4-12
GH17F041118 0.2 Ensembl 10.2 +22.4 22387 0.2 ZIC2 KRTAP4-6 KRTAP4-11 KRTAP4-9
GH17F041099 1.3 Ensembl ENCODE 10 +40.4 40387 1.0 ELF3 MLX ARID4B FEZF1 DMAP1 THRB RAD21 YY1 RARA FOS KRTAP4-12 KRTAP4-6 KRTAP4-16 KRTAP4-8
GH17F040948 1.1 FANTOM5 Ensembl ENCODE 9.5 +185.8 185774 11.7 PKNOX1 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF48 SLC30A9 ZNF121 ZNF143 KRTAP3-2 KRT23 KRTAP2-1 KRT39 KRT40 KRTAP2-2 ENSG00000234477 KRTAP3-3 KRTAP1-5 KRTAP3-1
GH17F041098 0.4 ENCODE 9 +41.9 41869 1.1 ZIC2 KRTAP4-12 KRTAP4-6 KRTAP4-8 KRTAP4-16
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KRTAP4-6 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP4-6 Gene

Chromosome:
17
Start:
41,139,433 bp from pter
End:
41,140,487 bp from pter
Size:
1,055 bases
Orientation:
Minus strand

Genomic View for KRTAP4-6 Gene

Genes around KRTAP4-6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP4-6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP4-6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP4-6 Gene

Proteins for KRTAP4-6 Gene

  • Protein details for KRTAP4-6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYQ5-KRA46_HUMAN
    Recommended name:
    Keratin-associated protein 4-6
    Protein Accession:
    Q9BYQ5
    Secondary Accessions:
    • Q9BYR1

    Protein attributes for KRTAP4-6 Gene

    Size:
    205 amino acids
    Molecular mass:
    21825 Da
    Quaternary structure:
    • Interacts with hair keratins.
    SequenceCaution:
    • Sequence=CAC27577.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

neXtProt entry for KRTAP4-6 Gene

Post-translational modifications for KRTAP4-6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP4-6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP4-6 Gene

Domains & Families for KRTAP4-6 Gene

Gene Families for KRTAP4-6 Gene

Protein Domains for KRTAP4-6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP4-6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BYQ5

UniProtKB/Swiss-Prot:

KRA46_HUMAN :
  • Belongs to the KRTAP type 4 family.
Family:
  • Belongs to the KRTAP type 4 family.
genes like me logo Genes that share domains with KRTAP4-6: view

Function for KRTAP4-6 Gene

Molecular function for KRTAP4-6 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

miRNA for KRTAP4-6 Gene

miRTarBase miRNAs that target KRTAP4-6

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP4-6 Gene

Localization for KRTAP4-6 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP4-6 Gene COMPARTMENTS Subcellular localization image for KRTAP4-6 gene
Compartment Confidence
extracellular 3
cytoskeleton 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP4-6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP4-6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP4-6 Gene

Pathways & Interactions for KRTAP4-6 Gene

SuperPathways for KRTAP4-6 Gene

SuperPathway Contained pathways
1 Developmental Biology
genes like me logo Genes that share pathways with KRTAP4-6: view

Pathways by source for KRTAP4-6 Gene

1 Reactome pathway for KRTAP4-6 Gene

Interacting Proteins for KRTAP4-6 Gene

Gene Ontology (GO) - Biological Process for KRTAP4-6 Gene

None

No data available for SIGNOR curated interactions for KRTAP4-6 Gene

Transcripts for KRTAP4-6 Gene

mRNA/cDNA for KRTAP4-6 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP4-6 Gene

No ASD Table

Relevant External Links for KRTAP4-6 Gene

GeneLoc Exon Structure for
KRTAP4-6
ECgene alternative splicing isoforms for
KRTAP4-6

Expression for KRTAP4-6 Gene

mRNA expression in normal human tissues for KRTAP4-6 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP4-6 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x48.9).

SOURCE GeneReport for Unigene cluster for KRTAP4-6 Gene:

Hs.307014

mRNA Expression by UniProt/SwissProt for KRTAP4-6 Gene:

Q9BYQ5-KRA46_HUMAN
Tissue specificity: Expressed in the hair follicles.
genes like me logo Genes that share expression patterns with KRTAP4-6: view

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 KRTAP4-6 Gene

Orthologs for KRTAP4-6 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP4-6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP4-6 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOC100848612 34
  • 88.51 (n)
-- 35
  • 74 (a)
ManyToMany
-- 35
  • 73 (a)
ManyToMany
-- 35
  • 73 (a)
ManyToMany
KRTAP4-7 35
  • 73 (a)
ManyToMany
-- 35
  • 72 (a)
ManyToMany
-- 35
  • 71 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Gm11563 35
  • 85 (a)
ManyToMany
Gm11555 35
  • 78 (a)
ManyToMany
Krtap4-2 35
  • 76 (a)
ManyToMany
Krtap4-1 35
  • 75 (a)
ManyToMany
Krtap4-7 35
  • 74 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia KRTAP4-12 34
Species where no ortholog for KRTAP4-6 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 KRTAP4-6 Gene

ENSEMBL:
Gene Tree for KRTAP4-6 (if available)
TreeFam:
Gene Tree for KRTAP4-6 (if available)

Paralogs for KRTAP4-6 Gene

Variants for KRTAP4-6 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP4-6 Gene

KRA46_HUMAN-Q9BYQ5
Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in the sequence encoding cysteine-rich repeat segments (PubMed:15955084). Allele shown is KAP4.15 (PubMed:15955084).

Sequence variations from dbSNP and Humsavar for KRTAP4-6 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs112411525 -- 41,138,965(+) TTGTT(A/G)TTAAT downstream-variant-500B
rs112597510 -- 41,142,236(+) ACCAC(A/G)CCCGT upstream-variant-2KB
rs114180500 -- 41,142,395(+) TTAAA(C/T)AAAAT upstream-variant-2KB
rs114249719 -- 41,139,323(+) ATGTT(A/G)CAATT downstream-variant-500B
rs114671607 -- 41,139,873(+) GCTCA(A/G)CAGCA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for KRTAP4-6 Gene

Variant ID Type Subtype PubMed ID
esv2715916 CNV deletion 23290073
nsv1129330 OTHER inversion 24896259
nsv1146669 OTHER inversion 26484159
nsv833446 CNV gain 17160897

Variation tolerance for KRTAP4-6 Gene

Residual Variation Intolerance Score: 95.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.24; 70.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP4-6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP4-6

Disorders for KRTAP4-6 Gene

Relevant External Links for KRTAP4-6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP4-6

No disorders were found for KRTAP4-6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP4-6 Gene

Publications for KRTAP4-6 Gene

  1. Size polymorphisms in the human ultrahigh sulfur hair keratin- associated protein 4, KAP4, gene family. (PMID: 15955084) Kariya N. … Ito M. (J. Invest. Dermatol. 2005) 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. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody M.C. … Nusbaum C. (Nature 2006) 4 64

Products for KRTAP4-6 Gene

Sources for KRTAP4-6 Gene

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