Aliases for KRTAP4-6 Gene

Aliases for KRTAP4-6 Gene

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

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 and Keratinization. An important paralog of this gene is KRTAP4-12.

UniProtKB/Swiss-Prot Summary 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 , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP4-6 Gene

Genomics for KRTAP4-6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRTAP4-6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP4-6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP4-6

Genomic Locations for KRTAP4-6 Gene

Latest Assembly
chr17:41,139,433-41,140,487
(GRCh38/hg38)
Size:
1,055 bases
Orientation:
Minus strand

Previous Assembly
chr17:39,295,685-39,296,739
(GRCh37/hg19 by Entrez Gene)
Size:
1,055 bases
Orientation:
Minus strand

chr17:39,295,685-39,296,739
(GRCh37/hg19 by Ensembl)
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

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

Protein Domains for KRTAP4-6 Gene

InterPro:

Suggested Antigen Peptide Sequences for KRTAP4-6 Gene

GenScript: Design optimal peptide antigens:
  • Ultrahigh sulfur keratin-associated protein 4.15 (KRA46_HUMAN)

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.

Phenotypes From GWAS Catalog for KRTAP4-6 Gene

miRNA for KRTAP4-6 Gene

miRTarBase miRNAs that target KRTAP4-6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP4-6

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
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 4
cytoskeleton 2

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

PathCards logo

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 :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP4-6

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

Expression for KRTAP4-6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP4-6

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

Primer products for research

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 30
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC100848612 29
  • 88.51 (n)
-- 30
  • 74 (a)
ManyToMany
KRTAP4-7 30
  • 73 (a)
ManyToMany
-- 30
  • 73 (a)
ManyToMany
-- 30
  • 73 (a)
ManyToMany
-- 30
  • 72 (a)
ManyToMany
-- 30
  • 71 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Gm11563 30
  • 85 (a)
ManyToMany
Gm11555 30
  • 78 (a)
ManyToMany
Krtap4-2 30
  • 76 (a)
ManyToMany
Krtap4-1 30
  • 75 (a)
ManyToMany
Krtap4-7 30
  • 74 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia KRTAP4-12 29
Species where no ortholog for KRTAP4-6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP4-6: view image
Alliance of Genome Resources:
Additional Orthologs for KRTAP4-6

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).

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRTAP4-6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
KRTAP4-6

SNP Genotyping and Copy Number Assays for research

No data available for Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP4-6 Gene

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
  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
  3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 4

Products for KRTAP4-6 Gene

Sources for KRTAP4-6 Gene