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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 Keratinization and 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.

Additional gene information for KRTAP4-6 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP4-6 Gene

Genomics for KRTAP4-6 Gene

GeneHancer (GH) Regulatory Elements for KRTAP4-6 Gene

Promoters and enhancers for KRTAP4-6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I041140 Promoter/Enhancer 1 EPDnew ENCODE 550.8 -0.5 -517 1.5 MITF RAD51 USF1 SCRT2 USF2 ZIC2 ZNF354B GC17M041135 KRTAP4-6 SMARCE1 ACLY ENSG00000266208
GH17I040948 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.5 +185.8 185774 11.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B NEUROD1 DMAP1 ZNF48 ETS1 TCF12 KRTAP3-2 KRT23 KRTAP2-1 KRT39 KRT40 KRTAP2-2 ENSG00000234477 KRTAP3-3 KRTAP1-5 KRTAP3-1
GH17I041066 Promoter/Enhancer 1.4 EPDnew ENCODE 7.6 +73.7 73746 1.9 HDAC1 ATF1 ZBTB40 TCF12 ZNF766 FOS ATF7 CREM ZBTB11 CEBPB KRTAP2-4 KRTAP4-8 KRTAP4-6 KRTAP2-5P GC17M041060
GH17I040175 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 4.7 +963.5 963545 2.5 HDGF RB1 RFX5 ZEB1 ZNF335 EGR1 ZNF143 EGR2 SP3 REST RAPGEFL1 CASC3 MSL1 CDC6 ENSG00000266208 KRTAP4-6 PIR47710 GC17P040124
GH17I041123 Promoter/Enhancer 0.9 EPDnew Ensembl 8 +16.5 16521 0.7 SCRT1 SCRT2 ZIC2 GC17P041125 KRTAP4-12 KRTAP4-6 KRTAP4-11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

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

Genomic Locations for KRTAP4-6 Gene

Genomic Locations for KRTAP4-6 Gene
chr17:41,139,433-41,140,487
(GRCh38/hg38)
Size:
1,055 bases
Orientation:
Minus strand
chr17:39,295,685-39,296,739
(GRCh37/hg19)

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

No Post-translational modifications

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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.

miRNA for KRTAP4-6 Gene

miRTarBase miRNAs that target KRTAP4-6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 KRTAP4-6 gene
Compartment Confidence
cytosol 5
extracellular 3
cytoskeleton 2
nucleus 1

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP4-6 Gene

Pathways & Interactions for KRTAP4-6 Gene

SuperPathways for KRTAP4-6 Gene

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

Pathways by source for KRTAP4-6 Gene

2 Reactome pathways for KRTAP4-6 Gene

Interacting Proteins for KRTAP4-6 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP4-6: view

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

Drugs & Compounds for KRTAP4-6 Gene

No Compound Related Data Available

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 :

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for KRTAP4-6 Gene

  • Skin(4)
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 , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOC100848612 33
  • 88.51 (n)
-- 34
  • 74 (a)
ManyToMany
-- 34
  • 73 (a)
ManyToMany
-- 34
  • 73 (a)
ManyToMany
KRTAP4-7 34
  • 73 (a)
ManyToMany
-- 34
  • 72 (a)
ManyToMany
-- 34
  • 71 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Gm11563 34
  • 85 (a)
ManyToMany
Gm11555 34
  • 78 (a)
ManyToMany
Krtap4-2 34
  • 76 (a)
ManyToMany
Krtap4-1 34
  • 75 (a)
ManyToMany
Krtap4-7 34
  • 74 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia KRTAP4-12 33
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

(10) SIMAP similar genes for KRTAP4-6 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KRTAP4-6: view

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 Variation AA Info Type
rs1000814468 -- 41,139,108(-) G/A downstream_transcript_variant
rs1001352617 -- 41,141,013(-) C/T upstream_transcript_variant
rs1002537611 -- 41,140,611(-) T/A upstream_transcript_variant
rs1002650342 -- 41,141,121(-) T/C upstream_transcript_variant
rs1004440012 -- 41,139,729(-) G/A 3_prime_UTR_variant

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)

Additional Variant Information for KRTAP4-6 Gene

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

Disorders for KRTAP4-6 Gene

Additional Disease Information for 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 (The Journal of investigative dermatology 2005) 3 4 58
  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 MA … Schweizer J (The Journal of biological chemistry 2001) 3 4 58
  3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 4 58

Products for KRTAP4-6 Gene

Sources for KRTAP4-6 Gene

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