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Aliases for KRTAP9-4 Gene

Aliases for KRTAP9-4 Gene

  • Keratin Associated Protein 9-4 2 3 5
  • Ultrahigh Sulfur Keratin-Associated Protein 9.4 3 4
  • Keratin-Associated Protein 9.4 3 4
  • KRTAP9.4 3 4
  • KAP9.4 3 4
  • Keratin-Associated Protein 9-4 3

External Ids for KRTAP9-4 Gene

Previous GeneCards Identifiers for KRTAP9-4 Gene

  • GC17P038990
  • GC17P041510
  • GC17P039295
  • GC17P039781
  • GC17P039724
  • GC17P036660
  • GC17P036661
  • GC17P039405
  • GC17P035169

Summaries for KRTAP9-4 Gene

Entrez Gene Summary for KRTAP9-4 Gene

  • This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRTAP9-4 Gene

KRTAP9-4 (Keratin Associated Protein 9-4) is a Protein Coding gene. Among its related pathways are Developmental Biology. An important paralog of this gene is KRTAP9-2.

UniProtKB/Swiss-Prot for KRTAP9-4 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP9-4 Gene

Genomics for KRTAP9-4 Gene

Regulatory Elements for KRTAP9-4 Gene


Genomic Location for KRTAP9-4 Gene

Chromosome:
17
Start:
41,249,687 bp from pter
End:
41,250,653 bp from pter
Size:
967 bases
Orientation:
Plus strand

Genomic View for KRTAP9-4 Gene

Genes around KRTAP9-4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP9-4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP9-4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP9-4 Gene

Proteins for KRTAP9-4 Gene

  • Protein details for KRTAP9-4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYQ2-KRA94_HUMAN
    Recommended name:
    Keratin-associated protein 9-4
    Protein Accession:
    Q9BYQ2
    Secondary Accessions:
    • Q0VAE3

    Protein attributes for KRTAP9-4 Gene

    Size:
    154 amino acids
    Molecular mass:
    16378 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP9-4 Gene

Post-translational modifications for KRTAP9-4 Gene

No Post-translational modifications

Other Protein References for KRTAP9-4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP9-4 Gene

Domains & Families for KRTAP9-4 Gene

Gene Families for KRTAP9-4 Gene

Protein Domains for KRTAP9-4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP9-4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BYQ2

UniProtKB/Swiss-Prot:

KRA94_HUMAN :
  • Belongs to the KRTAP type 9 family.
Family:
  • Belongs to the KRTAP type 9 family.
genes like me logo Genes that share domains with KRTAP9-4: view

Function for KRTAP9-4 Gene

Molecular function for KRTAP9-4 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.

Gene Ontology (GO) - Molecular Function for KRTAP9-4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRTAP9-4: view
genes like me logo Genes that share phenotypes with KRTAP9-4: view

Animal Model 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 KRTAP9-4 Gene

Localization for KRTAP9-4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP9-4 Gene COMPARTMENTS Subcellular localization image for KRTAP9-4 gene
Compartment Confidence
cytoskeleton 2
extracellular 2
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KRTAP9-4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP9-4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP9-4 Gene

Pathways & Interactions for KRTAP9-4 Gene

SuperPathways for KRTAP9-4 Gene

SuperPathway Contained pathways
1 Developmental Biology
genes like me logo Genes that share pathways with KRTAP9-4: view

Pathways by source for KRTAP9-4 Gene

1 Reactome pathway for KRTAP9-4 Gene

Gene Ontology (GO) - Biological Process for KRTAP9-4 Gene

None

No data available for SIGNOR curated interactions for KRTAP9-4 Gene

Transcripts for KRTAP9-4 Gene

mRNA/cDNA for KRTAP9-4 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KRTAP9-4 Gene

Keratin associated protein 9-4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP9-4 Gene

No ASD Table

Relevant External Links for KRTAP9-4 Gene

GeneLoc Exon Structure for
KRTAP9-4
ECgene alternative splicing isoforms for
KRTAP9-4

Expression for KRTAP9-4 Gene

mRNA expression in normal human tissues for KRTAP9-4 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP9-4 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x49.1).

SOURCE GeneReport for Unigene cluster for KRTAP9-4 Gene:

Hs.528700
genes like me logo Genes that share expression patterns with KRTAP9-4: 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 and mRNA Expression by UniProt/SwissProt for KRTAP9-4 Gene

Orthologs for KRTAP9-4 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP9-4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP9-4 34
  • 98.27 (n)
mouse
(Mus musculus)
Mammalia Krtap9-1 35
  • 49 (a)
ManyToMany
Gm11559 35
  • 48 (a)
ManyToMany
Gm11567 35
  • 46 (a)
ManyToMany
Gm11568 35
  • 44 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 42 (a)
ManyToMany
KRTAP9-1 35
  • 37 (a)
ManyToMany
Species where no ortholog for KRTAP9-4 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)
  • 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 KRTAP9-4 Gene

ENSEMBL:
Gene Tree for KRTAP9-4 (if available)
TreeFam:
Gene Tree for KRTAP9-4 (if available)

Paralogs for KRTAP9-4 Gene

Paralogs for KRTAP9-4 Gene

(12) SIMAP similar genes for KRTAP9-4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KRTAP9-4: view

Variants for KRTAP9-4 Gene

Sequence variations from dbSNP and Humsavar for KRTAP9-4 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs62065349 --

Structural Variations from Database of Genomic Variants (DGV) for KRTAP9-4 Gene

Variant ID Type Subtype PubMed ID
dgv3159n100 CNV gain 25217958
dgv3160n100 CNV gain+loss 25217958
dgv3161n100 CNV loss 25217958
dgv413e201 CNV deletion 23290073
esv25995 CNV loss 19812545
esv2658941 CNV deletion 23128226
esv2758690 CNV gain+loss 17122850
esv994258 CNV deletion 20482838
nsv1059597 CNV loss 25217958
nsv1146669 OTHER inversion 26484159
nsv510710 CNV deletion 20534489
nsv575028 CNV gain 21841781
nsv9551 CNV loss 18304495
nsv960487 CNV duplication 23825009

Variation tolerance for KRTAP9-4 Gene

Residual Variation Intolerance Score: 59.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.36; 26.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP9-4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP9-4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP9-4 Gene

Disorders for KRTAP9-4 Gene

Relevant External Links for KRTAP9-4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP9-4

No disorders were found for KRTAP9-4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP9-4 Gene

Publications for KRTAP9-4 Gene

  1. 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) 2 3 4 64
  2. 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
  3. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. (PMID: 25963833) Drissi R. … Boisvert F.M. (Mol. Cell Proteomics 2015) 3 64
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  5. 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 KRTAP9-4 Gene

Sources for KRTAP9-4 Gene

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