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Aliases for OTOP1 Gene

Aliases for OTOP1 Gene

  • Otopetrin 1 2 3 5

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. 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

Enhancers for OTOP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around OTOP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for OTOP1 Gene

4,188,803 bp from pter
4,226,894 bp from pter
38,092 bases
Minus strand

Genomic View for OTOP1 Gene

Genes around OTOP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OTOP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A1L476

    Protein attributes for OTOP1 Gene

    612 amino acids
    Molecular mass:
    67353 Da
    Quaternary structure:
    No Data Available
    • 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 & Families for OTOP1 Gene

Protein Domains for OTOP1 Gene


Suggested Antigen Peptide Sequences for OTOP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the otopetrin 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).

Phenotypes for OTOP1 Gene

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

Animal Models for OTOP1 Gene

MGI Knock Outs for OTOP1:

Animal Model Products

miRNA for OTOP1 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets 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

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

No data available for Gene Ontology (GO) - Cellular Components for OTOP1 Gene

Pathways & Interactions for OTOP1 Gene

SuperPathways for OTOP1 Gene

No Data Available

Interacting Proteins for OTOP1 Gene

Gene Ontology (GO) - Biological Process for OTOP1 Gene


No data available for Pathways by source and SIGNOR curated interactions for OTOP1 Gene

Drugs & Compounds for OTOP1 Gene

(1) Drugs for OTOP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with OTOP1: view

Transcripts for OTOP1 Gene

mRNA/cDNA for OTOP1 Gene

(1) REFSEQ mRNAs :
(2) Selected AceView cDNA sequences:
(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
ECgene alternative splicing isoforms for

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) (x9.5), Esophagus - Mucosa (x7.4), and Skin - Sun Exposed (Lower leg) (x7.1).

SOURCE GeneReport for Unigene cluster for OTOP1 Gene Hs.534544

genes like me logo Genes that share expression patterns with OTOP1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
(Bos Taurus)
Mammalia OTOP1 35
  • 85.6 (n)
  • 83.42 (a)
OTOP1 36
  • 85 (a)
(Canis familiaris)
Mammalia OTOP1 35
  • 86.81 (n)
  • 85.68 (a)
OTOP1 36
  • 86 (a)
(Mus musculus)
Mammalia Otop1 35
  • 80.28 (n)
  • 81.83 (a)
Otop1 16
Otop1 36
  • 77 (a)
(Pan troglodytes)
Mammalia OTOP1 35
  • 99.4 (n)
  • 99.67 (a)
OTOP1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Otop1 35
  • 80.88 (n)
  • 82.4 (a)
(Monodelphis domestica)
Mammalia OTOP1 36
  • 42 (a)
(Ornithorhynchus anatinus)
Mammalia OTOP1 36
  • 59 (a)
(Gallus gallus)
Aves OTOP1 35
  • 71.1 (n)
  • 70.56 (a)
OTOP1 36
  • 65 (a)
(Anolis carolinensis)
Reptilia OTOP1 36
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia otop1 35
  • 65.63 (n)
  • 68.07 (a)
(Danio rerio)
Actinopterygii otop1 35
  • 57.71 (n)
  • 45.52 (a)
OTOP1 36
  • 31 (a)
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

Gene Tree for OTOP1 (if available)
Gene Tree for OTOP1 (if available)

Paralogs for OTOP1 Gene

Paralogs for OTOP1 Gene

(2) SIMAP similar genes for OTOP1 Gene using alignment to 1 proteins: 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
rs28394859 - 4,202,457(+) TGTTA(C/T)GTTCC reference, missense
rs2916414 - 4,197,907(+) ACCCC(A/T)TCAGA reference, missense
rs11736799 - 4,197,534(+) CTCCA(C/T)GATCG reference, missense
rs34666677 - 4,197,356(-) GGGCA(A/C)GGACA reference, missense
rs35106142 - 4,197,286(-) AAGCA(C/G)GAGGA reference, missense

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

Variation tolerance for OTOP1 Gene

Residual Variation Intolerance Score: 88.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.38; 76.97% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for OTOP1 Gene

Disorders for OTOP1 Gene

Relevant External Links for OTOP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for OTOP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 67
  2. 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
  3. 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