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Aliases for OTOP1 Gene

Aliases for OTOP1 Gene

  • Otopetrin 1 2 3
  • Otopetrin-1 3

External Ids for OTOP1 Gene

Previous GeneCards Identifiers for OTOP1 Gene

  • GC04M004183
  • GC04M004255
  • GC04M004308
  • GC04M004241
  • GC04M004126

Summaries for OTOP1 Gene

GeneCards Summary for OTOP1 Gene

OTOP1 (Otopetrin 1) is a Protein Coding gene. Diseases associated with OTOP1 include benign paroxysmal positional nystagmus. An important paralog of this gene is OTOP3.

UniProtKB/Swiss-Prot for OTOP1 Gene

  • Required for normal formation of otoconia in the inner ear. Inhibits P2Y purinoceptors. Modulates calcium homeostasis and influx of calcium in response to extracellular ATP (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OTOP1 Gene

Genomics for OTOP1 Gene

Regulatory Elements for OTOP1 Gene

Genomic Location for OTOP1 Gene

Start:
4,188,803 bp from pter
End:
4,226,894 bp from pter
Size:
38,092 bases
Orientation:
Minus strand

Genomic View for OTOP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OTOP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OTOP1 Gene

Proteins for OTOP1 Gene

  • Protein details for OTOP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7RTM1-OTOP1_HUMAN
    Recommended name:
    Otopetrin-1
    Protein Accession:
    Q7RTM1
    Secondary Accessions:
    • A1L476

    Protein attributes for OTOP1 Gene

    Size:
    612 amino acids
    Molecular mass:
    67353 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Otoconia are minute biomineral particles embedded in a gelatinous membrane that overlies the sensory epithelium in the inner ear. Gravity and acceleration cause the octoconia to deflect the stereocilia of sensory hair cells. Otoconia are required for normal processing of information regarding spatial orientation and acceleration

neXtProt entry for OTOP1 Gene

Proteomics data for OTOP1 Gene at MOPED

Post-translational modifications for OTOP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OTOP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OTOP1 Gene

Domains for OTOP1 Gene

Protein Domains for OTOP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OTOP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7RTM1

UniProtKB/Swiss-Prot:

OTOP1_HUMAN :
  • Q7RTM1
Family:
  • Belongs to the otopetrin family.
genes like me logo Genes that share domains with OTOP1: view

No data available for Gene Families for OTOP1 Gene

Function for OTOP1 Gene

Molecular function for OTOP1 Gene

UniProtKB/Swiss-Prot Function: Required for normal formation of otoconia in the inner ear. Inhibits P2Y purinoceptors. Modulates calcium homeostasis and influx of calcium in response to extracellular ATP (By similarity).
genes like me logo Genes that share phenotypes with OTOP1: view

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for OTOP1 Gene

Localization for OTOP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OTOP1 Gene

Membrane; Multi-pass membrane protein. Secreted, extracellular space. Note=Detected in the gelatinous membrane overlying the inner ear macular epithelium. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OTOP1 Gene COMPARTMENTS Subcellular localization image for OTOP1 gene
Compartment Confidence
extracellular 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for OTOP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region --
GO:0005615 extracellular space IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OTOP1: view

Pathways for OTOP1 Gene

SuperPathways for OTOP1 Gene

No Data Available

Interacting Proteins for OTOP1 Gene

Gene Ontology (GO) - Biological Process for OTOP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009590 detection of gravity IEA --
GO:0031214 biomineral tissue development IEA --
GO:0042472 inner ear morphogenesis IEA --
genes like me logo Genes that share ontologies with OTOP1: view

No data available for Pathways by source for OTOP1 Gene

Compounds for OTOP1 Gene

(1) HMDB Compounds for OTOP1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
genes like me logo Genes that share compounds with OTOP1: view

Transcripts for OTOP1 Gene

mRNA/cDNA for OTOP1 Gene

(2) 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 OTOP1 Gene

No ASD Table

Relevant External Links for OTOP1 Gene

GeneLoc Exon Structure for
OTOP1
ECgene alternative splicing isoforms for
OTOP1

Expression for OTOP1 Gene

mRNA expression in normal human tissues for OTOP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OTOP1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (9.5), Esophagus - Mucosa (7.4), and Skin - Sun Exposed (Lower leg) (7.1).

SOURCE GeneReport for Unigene cluster for OTOP1 Gene Hs.534544

genes like me logo Genes that share expressions with OTOP1: view

No data available for Protein expression and mRNA Expression by UniProt/SwissProt for OTOP1 Gene

Orthologs for OTOP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OTOP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OTOP1 35
  • 99.4 (n)
  • 99.67 (a)
OTOP1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OTOP1 35
  • 85.6 (n)
  • 83.42 (a)
OTOP1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OTOP1 35
  • 86.81 (n)
  • 85.68 (a)
OTOP1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Otop1 35
  • 80.28 (n)
  • 81.83 (a)
Otop1 16
Otop1 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OTOP1 36
  • 42 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OTOP1 36
  • 59 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Otop1 35
  • 80.88 (n)
  • 82.4 (a)
chicken
(Gallus gallus)
Aves OTOP1 35
  • 71.1 (n)
  • 70.56 (a)
OTOP1 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OTOP1 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia otop1 35
  • 65.63 (n)
  • 68.07 (a)
zebrafish
(Danio rerio)
Actinopterygii otop1 35
  • 57.71 (n)
  • 45.52 (a)
OTOP1 36
  • 31 (a)
OneToOne
Species with no ortholog for OTOP1:
  • 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OTOP1 Gene

ENSEMBL:
Gene Tree for OTOP1 (if available)
TreeFam:
Gene Tree for OTOP1 (if available)

Paralogs for OTOP1 Gene

Paralogs for OTOP1 Gene

Selected SIMAP similar genes for OTOP1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for OTOP1 Gene

genes like me logo Genes that share paralogs with OTOP1: view

Variants for OTOP1 Gene

Sequence variations from dbSNP and Humsavar for OTOP1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs1808067 -- 4,215,521(-) accac(A/G)cccgc intron-variant
rs1811445 -- 4,226,281(+) ACCCA(A/G)GCTTC intron-variant
rs1811446 -- 4,226,335(+) AAGAT(G/T)CACAG intron-variant
rs1812111 -- 4,226,110(+) CGGGG(A/G)CCGAG intron-variant
rs1812355 -- 4,215,427(-) gcctc(A/G)gcatc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OTOP1 Gene

Variant ID Type Subtype PubMed ID
dgv1566e1 CNV Complex 17122850
nsv517008 CNV Gain+Loss 19592680
nsv508270 CNV Loss 20534489
nsv469857 CNV Complex 16826518
nsv822448 CNV Gain 20364138
esv2726966 CNV Deletion 23290073
nsv10436 CNV Loss 18304495

Relevant External Links for OTOP1 Gene

HapMap Linkage Disequilibrium report
OTOP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OTOP1 Gene

Disorders for OTOP1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for OTOP1 Gene including...

Search for OTOP1 Gene in MalaCards »

(2) University of Copenhagen DISEASES for OTOP1 Gene

genes like me logo Genes that share disorders with OTOP1: view

No data available for UniProtKB/Swiss-Prot for OTOP1 Gene

Publications for OTOP1 Gene

  1. Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1. (PMID: 12651873) Hurle B. … Ornitz D.M. (Hum. Mol. Genet. 2003) 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) 4
  3. Otopetrin 1 activation by purinergic nucleotides regulates intracellular calcium. (PMID: 17606897) Hughes I. … Ornitz D.M. (Proc. Natl. Acad. Sci. U.S.A. 2007) 23
  4. 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 OTOP1 Gene

Sources for OTOP1 Gene

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