OTOP1
Proton channel OTOP1
Also known as: OTOP1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q7RTM1
- Gene
- OTOP1
- Ensembl
- ENSG00000163982
- Chromosome
- 4
- Canonical length
- 612 aa
- Protein class
- Predicted membrane proteins, Transporters
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
612 residues, UniProt reviewed canonical sequence.
>Q7RTM1|OTOP1
1 MLEGLGSPAS PRAAASASVA GSSGPAACSP PSSSAPRSPE SPAPRRGGVR ASVPQKLAEM
61 LSSQYGLIVF VAGLLLLLAW AVHAAGVSKS DLLCFLTALM LLQLLWMLWY VGRSSAHRRL
121 FRLKDTHAGA GWLRGSITLF AVITVILGCL KIGYFIGFSE CLSATEGVFP VTHSVHTLLQ
181 VYFLWGHAKD IIQSFKTLER FGVIHSVFTN LLLWANGVLN ESKHQLNEHK ERLITLGFGN
241 ITTVLDDHTP QCNCTPPTLC TAISHGIYYL YPFNIEYQIL ASTMLYVLWK NIGRKVDSHQ
301 HQKMQFKSDG VMVGAVLGLT VLAATIAVVV VYLIHIGRSK TKSESALIMF YLYAITLLML
361 MGAAGLAGIR IYRIDEKSLD ESKNPARKLD SDLLVGTASG SWLISWGSIL AILCAEGHPR
421 YTWYNLPYSI LAIVEKYIQN LFIFESIHRE PEKLSEDIQT LRVVTVCNGN TMPLASSCPK
481 SGGVARDVAP QGKDMPPAAN GNVCMRESHD KEEEKQEESS WGGSPSPVRL PRFLQGNAKR
541 KVLRNIAAFL FLCNISLWIP PAFGCRPEYD NGLEEIVFGF EPWIIVVNLA MPFSIFYRMH
601 AAASLFEVYC KILocalizationUniProt · AlphaFold · HPA
Whether an antibody against OTOP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 12
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 0.2 nTPM
Expression across tissuesHPA
Tissue
- skin: 0.2 nTPM
- esophagus: 0.1 nTPM
- adipose tissue: 0 nTPM
- adrenal gland: 0 nTPM
- amygdala: 0 nTPM
- appendix: 0 nTPM
Single-cell type
- neutrophils: 4 nCPM
- thymic myoid cells: 2.7 nCPM
- medullary thymic epithelial cells: 2.4 nCPM
- cone photoreceptor cells: 2.1 nCPM
- early spermatids: 2.1 nCPM
- neutrophil progenitors: 1.9 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- basal ganglia: 0.2 nTPM
- cerebral cortex: 0.2 nTPM
- medulla oblongata: 0.2 nTPM
- white matter: 0.2 nTPM
- amygdala: 0.1 nTPM
- hippocampal formation: 0.1 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.88
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.66
- DepMap mean gene effect
- -0.33
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to insulin stimulus
- detection of gravity
- negative regulation of type II interferon-mediated signaling pathway
- otolith formation
- otolith mineralization
- proton transmembrane transport
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of OTOP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads OTOP1 as an antibody target. Whether an autoantibody or antibody against OTOP1 could matter depends on whether native OTOP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
OTOP1 is annotated at the cell surface, where native OTOP1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label OTOP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...