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Aliases for KRTAP9-3 Gene

Aliases for KRTAP9-3 Gene

  • Keratin Associated Protein 9-3 2 3
  • Ultrahigh Sulfur Keratin-Associated Protein 9.3 3 4
  • Keratin-Associated Protein 9.3 3 4
  • KRTAP9.3 3 4
  • KAP9.3 3 4
  • Keratin Associated Protein 9.3 3
  • Keratin-Associated Protein 9-3 3

External Ids for KRTAP9-3 Gene

Previous GeneCards Identifiers for KRTAP9-3 Gene

  • GC17P038973
  • GC17P041493
  • GC17P039292
  • GC17P039761
  • GC17P039723
  • GC17P036644
  • GC17P036645
  • GC17P036646
  • GC17P039388

Summaries for KRTAP9-3 Gene

Entrez Gene Summary for KRTAP9-3 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 KRTAP9-3 Gene

KRTAP9-3 (Keratin Associated Protein 9-3) is a Protein Coding gene. Diseases associated with KRTAP9-3 include mixed gonadal dysgenesis. An important paralog of this gene is KRTAP4-4.

UniProtKB/Swiss-Prot for KRTAP9-3 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 KRTAP9-3 Gene

Genomics for KRTAP9-3 Gene

Regulatory Elements for KRTAP9-3 Gene

Genomic Location for KRTAP9-3 Gene

Start:
41,232,463 bp from pter
End:
41,233,454 bp from pter
Size:
992 bases
Orientation:
Plus strand

Genomic View for KRTAP9-3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KRTAP9-3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP9-3 Gene

Proteins for KRTAP9-3 Gene

  • Protein details for KRTAP9-3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYQ3-KRA93_HUMAN
    Recommended name:
    Keratin-associated protein 9-3
    Protein Accession:
    Q9BYQ3
    Secondary Accessions:

    Protein attributes for KRTAP9-3 Gene

    Size:
    159 amino acids
    Molecular mass:
    16854 Da
    Quaternary structure:
    • Interacts with hair keratins

neXtProt entry for KRTAP9-3 Gene

Proteomics data for KRTAP9-3 Gene at MOPED

Post-translational modifications for KRTAP9-3 Gene

No Post-translational modifications

Other Protein References for KRTAP9-3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP9-3 Gene

Domains for KRTAP9-3 Gene

Gene Families for KRTAP9-3 Gene

HGNC:
  • KRTAP :Keratin associated proteins

Protein Domains for KRTAP9-3 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP9-3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BYQ3

UniProtKB/Swiss-Prot:

KRA93_HUMAN :
  • Q9BYQ3
Family:
  • Belongs to the KRTAP type 9 family.
genes like me logo Genes that share domains with KRTAP9-3: view

Function for KRTAP9-3 Gene

Molecular function for KRTAP9-3 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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KRTAP9-3 Gene

Localization for KRTAP9-3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP9-3 Gene COMPARTMENTS Subcellular localization image for KRTAP9-3 gene
Compartment Confidence
cytoskeleton 2
extracellular 2
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KRTAP9-3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP9-3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP9-3 Gene

Pathways for KRTAP9-3 Gene

SuperPathways for KRTAP9-3 Gene

No Data Available

Interacting Proteins for KRTAP9-3 Gene

Selected Interacting proteins: Q9BYQ3-KRA93_HUMAN for KRTAP9-3 Gene via I2D

Symbol External ID(s) Details
CDC20
CDK12

Gene Ontology (GO) - Biological Process for KRTAP9-3 Gene

None

No data available for Pathways by source for KRTAP9-3 Gene

Transcripts for KRTAP9-3 Gene

mRNA/cDNA for KRTAP9-3 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP9-3 Gene

No ASD Table

Relevant External Links for KRTAP9-3 Gene

GeneLoc Exon Structure for
KRTAP9-3
ECgene alternative splicing isoforms for
KRTAP9-3

Expression for KRTAP9-3 Gene

mRNA expression in normal human tissues for KRTAP9-3 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP9-3 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (48.8) and Skin - Sun Exposed (Lower leg) (4.1).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for KRTAP9-3 Gene

SOURCE GeneReport for Unigene cluster for KRTAP9-3 Gene Hs.307012

genes like me logo Genes that share expressions with KRTAP9-3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for KRTAP9-3 Gene

Orthologs for KRTAP9-3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP9-3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP9-3 35
  • 97.9 (n)
  • 96.86 (a)
KRTAP9-3 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 44 (a)
ManyToMany
KRTAP9-1 36
  • 39 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Gm11559 36
  • 49 (a)
ManyToMany
Gm11567 36
  • 47 (a)
ManyToMany
Gm11568 36
  • 44 (a)
ManyToMany
Krtap9-1 36
  • 50 (a)
ManyToMany
Species with no ortholog for KRTAP9-3:
  • 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 KRTAP9-3 Gene

ENSEMBL:
Gene Tree for KRTAP9-3 (if available)
TreeFam:
Gene Tree for KRTAP9-3 (if available)

Paralogs for KRTAP9-3 Gene

Selected SIMAP similar genes for KRTAP9-3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KRTAP9-3: view

Variants for KRTAP9-3 Gene

Sequence variations from dbSNP and Humsavar for KRTAP9-3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs1860551 -- 41,232,600(+) GGCTG(A/G)CAGCA synonymous-codon, reference
rs3813060 -- 41,231,978(-) GTGGG(C/T)GGCAC upstream-variant-2KB
rs8081661 -- 41,233,799(-) ACACA(A/C)AAAAA downstream-variant-500B
rs9900409 -- 41,231,250(-) AGAAA(C/T)AGAGA upstream-variant-2KB
rs9900916 -- 41,231,524(-) CTCCA(C/T)GATGA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KRTAP9-3 Gene

Variant ID Type Subtype PubMed ID
nsv833446 CNV Gain 17160897
dgv961e1 CNV Complex 17122850
nsv510710 CNV Loss 20534489
nsv9551 CNV Loss 18304495
nsv2049 CNV Loss 18451855
nsv436228 CNV Deletion 17901297
esv25995 CNV Loss 19812545
esv2664202 CNV Deletion 23128226
nsv498870 CNV Loss 21111241
esv987726 CNV Deletion 20482838
dgv67e180 CNV Loss 20482838
esv33487 CNV Loss 17666407
nsv514842 CNV Loss 21397061
esv2647699 CNV Loss 19546169
nsv442742 CNV CNV 18776908
esv987865 CNV Loss 20482838
nsv471399 CNV Duplication 19718026
esv2658941 CNV Deletion 23128226

Relevant External Links for KRTAP9-3 Gene

HapMap Linkage Disequilibrium report
KRTAP9-3
Human Gene Mutation Database (HGMD)
KRTAP9-3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP9-3 Gene

Disorders for KRTAP9-3 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for KRTAP9-3 Gene including...

Search for KRTAP9-3 Gene in MalaCards »

(2) University of Copenhagen DISEASES for KRTAP9-3 Gene

genes like me logo Genes that share disorders with KRTAP9-3: view

No data available for UniProtKB/Swiss-Prot for KRTAP9-3 Gene

Publications for KRTAP9-3 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
  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
  3. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PMID: 17353931) Ewing R.M. … Figeys D. (Mol. Syst. Biol. 2007) 3
  4. Charting the molecular network of the drug target Bcr-Abl. (PMID: 19380743) Brehme M. … Superti-Furga G. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for KRTAP9-3 Gene

Sources for KRTAP9-3 Gene

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