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Aliases for OTOP1 Gene

Aliases for OTOP1 Gene

  • Otopetrin 1 2 3 5
  • Otopetrin-1 3

External Ids for OTOP1 Gene

Previous GeneCards Identifiers for OTOP1 Gene

  • GC04M004183
  • GC04M004255
  • GC04M004308
  • GC04M004241
  • GC04M004126

Summaries for OTOP1 Gene

Entrez Gene Summary for OTOP1 Gene

  • This gene encodes a transmembrane protein which belongs to the otopetrin domain protein family and is required for the formation of otoconia and otoliths, calcium carbonate biominerals within the inner ear of mammals that are required for the detection of linear acceleration and gravity. This gene modulates purinergic control of intracellular calcium in vestibular supporting cells. Naturally occurring mutations in the orthologous mouse gene are associated with nonsyndromic otoconia agenesis and a consequent balance defect. The orthologous mouse gene is also induced in white adipose tissue during obesity. The encoded protein is a component of a counterinflammatory pathway that attenuates obesity-induced adipose tissue inflammation and plays an adaptive role in maintaining metabolic homeostasis in obesity. [provided by RefSeq, Jul 2017]

GeneCards Summary for OTOP1 Gene

OTOP1 (Otopetrin 1) is a Protein Coding gene. An important paralog of this gene is OTOP2.

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).

Additional gene information for OTOP1 Gene

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

Genomics for OTOP1 Gene

GeneHancer (GH) Regulatory Elements for OTOP1 Gene

Promoters and enhancers for OTOP1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I004226 Promoter 0.7 EPDnew 550.8 -0.1 -55 0.1 SUZ12 EZH2 OTOP1 TMEM128
GH04I003782 Enhancer 0.5 FANTOM5 2 +444.4 444357 0.1 ZFP69B POLR2A ZNF692 RAD21 ZNF48 RGS12 OTOP1 ADRA2C GC04P003863
GH04I004215 Enhancer 0.5 ENCODE dbSUPER 0.4 +10.1 10130 2 KLF1 TMEM128 OR7E99P LYAR OTOP1 PIR49722
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around OTOP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OTOP1 gene promoter:

Genomic Locations for OTOP1 Gene

Genomic Locations for OTOP1 Gene
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

Post-translational modifications for OTOP1 Gene

No Post-translational modifications

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

Gene Families for OTOP1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

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

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

Animal Models for OTOP1 Gene

MGI Knock Outs for OTOP1:

Animal Model Products

CRISPR Products

miRNA for OTOP1 Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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 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:0005615 extracellular space IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OTOP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OTOP1 Gene

Pathways & Interactions for OTOP1 Gene

SuperPathways for OTOP1 Gene

No Data Available

Interacting Proteins for OTOP1 Gene

Selected Interacting proteins: Q7RTM1-OTOP1_HUMAN for OTOP1 Gene via IID

Gene Ontology (GO) - Biological Process for OTOP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031214 biomineral tissue development IEA --
genes like me logo Genes that share ontologies with OTOP1: view

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 Approved 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 :

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of OTOP1 Gene:


SOURCE GeneReport for Unigene cluster for OTOP1 Gene:

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 , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia OTOP1 33 34
  • 99.4 (n)
(Canis familiaris)
Mammalia OTOP1 33 34
  • 86.81 (n)
(Bos Taurus)
Mammalia OTOP1 33 34
  • 85.6 (n)
(Rattus norvegicus)
Mammalia Otop1 33
  • 80.88 (n)
(Mus musculus)
Mammalia Otop1 33 16 34
  • 80.28 (n)
(Ornithorhynchus anatinus)
Mammalia OTOP1 34
  • 59 (a)
(Monodelphis domestica)
Mammalia OTOP1 34
  • 42 (a)
(Gallus gallus)
Aves OTOP1 33 34
  • 71.1 (n)
(Anolis carolinensis)
Reptilia OTOP1 34
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia otop1 33
  • 65.63 (n)
(Danio rerio)
Actinopterygii otop1 33
  • 57.71 (n)
OTOP1 34
  • 31 (a)
Species where no ortholog for OTOP1 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)
  • 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:

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 Variation AA Info Type
rs10000020 -- 4,215,724(-) A/G intron_variant
rs1000044445 -- 4,205,069(-) G/A intron_variant
rs10001663 -- 4,217,436(-) C/A intron_variant
rs1000178118 -- 4,216,174(-) A/G intron_variant
rs1000394203 -- 4,204,916(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
nsv980180 CNV duplication 23825009
nsv964026 CNV duplication 23825009
nsv822448 CNV gain 20364138
nsv517008 CNV gain+loss 19592680
nsv508270 CNV deletion 20534489
nsv469857 CNV gain 16826518
nsv1128027 CNV deletion 24896259
nsv10436 CNV loss 18304495
nsv1008251 CNV gain 25217958
nsv1001885 CNV gain 25217958
esv3599458 CNV loss 21293372
esv34196 OTHER inversion 12058347
esv2763838 CNV gain+loss 21179565
esv2759219 CNV gain 17122850
esv2726966 CNV deletion 23290073
dgv5090n100 CNV gain 25217958
dgv5085n100 CNV gain 25217958

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)

Additional Variant Information for OTOP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for OTOP1 Gene

Additional Disease Information for OTOP1

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 DM (Human molecular genetics 2003) 2 3 4 58
  2. Otopetrin 1 protects mice from obesity-associated metabolic dysfunction through attenuating adipose tissue inflammation. (PMID: 24379350) Wang GX … Lin JD (Diabetes 2014) 3 58
  3. Missense mutations in Otopetrin 1 affect subcellular localization and inhibition of purinergic signaling in vestibular supporting cells. (PMID: 21236346) Kim E … Ornitz DM (Molecular and cellular neurosciences 2011) 3 58
  4. Identification of the Otopetrin Domain, a conserved domain in vertebrate otopetrins and invertebrate otopetrin-like family members. (PMID: 18254951) Hughes I … Ornitz DM (BMC evolutionary biology 2008) 3 58
  5. Otopetrin 1 activation by purinergic nucleotides regulates intracellular calcium. (PMID: 17606897) Hughes I … Ornitz DM (Proceedings of the National Academy of Sciences of the United States of America 2007) 22 58

Products for OTOP1 Gene

Sources for OTOP1 Gene

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