Seroatlas · Human Serome Atlas

OTOL1

Otolin-1

Also known as: C1QTNF15, C1QTNF16, OTOL1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: A6NHN0
Gene: OTOL1
Ensembl: ENSG00000182447
Chromosome: 3
Canonical length: 477 aa
Protein class: Predicted secreted proteins
Secretome location: Secreted in other tissues
Quaternary structure: Homotrimer

OverviewNCBI Gene

This gene encodes a secreted glycoprotein with a C-terminal complement Cq1-like globular domain that belongs to the C1q/tumor necrosis factor-related protein (CTRP) family. The encoded protein is expressed in the inner ear and forms a multimeric complex called the otoconia, together with cerebellin-1 and otoconin-90, as part of the otoconial membrane. It contains extensive posttranslational modifications including hydroxylated prolines and glycosylated lysines. Naturally occurring mutations in this gene are associated with abnormal otoconia formation and balance deficits resulting from vestibular dysfunction. [provided by RefSeq, Jul 2017]

Canonical amino-acid sequenceUniProt

477 residues, UniProt reviewed canonical sequence.

>A6NHN0|OTOL1
     1  MWMFSWLCAI LIILAIAGMN TIAKTTPHTK FTKKSEEREM PKGLKPSSGP PPEEEETLFT
    61  EMAEMAEPIT KPSALDSVFG TATLSPFENF TLDPADFFLN CCDCCSPVPG QKGEPGETGQ
   121  PGPKGEAGNL GIPGPPGVVG PQGPRGYKGE KGLKGERGDQ GVPGYPGKPG AQGEPGPKGD
   181  KGNIGLGGVK GQKGSKGDTC GNCTKGEKGD QGAMGSPGLH GGPGAKGEKG EMGEKGEMGD
   241  KGCCGDSGER GGKGQKGEGG MKGEKGSKGD SGMEGKSGRN GLPGAKGDPG IKGEKGELGP
   301  PGLLGPTGPK GDIGNKGVRG PTGKKGSRGF KGSKGELARV PRSAFSAGLS KPFPPPNIPI
   361  KFEKILYNDQ GNYSPVTGKF NCSIPGTYVF SYHITVRGRP ARISLVAQNK KQFKSRETLY
   421  GQEIDQASLL VILKLSAGDQ VWLEVSKDWN GVYVSAEDDS IFTGFLLYPE ETSGISP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OTOL1 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: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.6
Highest tissue expression: 0.4 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 0.4 nTPM
choroid plexus: 0.1 nTPM
adipose tissue: 0 nTPM
adrenal gland: 0 nTPM
amygdala: 0 nTPM
appendix: 0 nTPM

Single-cell type

alveolar cells type 2: 0.1 nCPM
brain excitatory neurons: 0.1 nCPM
early spermatids: 0.1 nCPM
epididymal efferent duct absorptive cells: 0.1 nCPM
late primary spermatocytes: 0.1 nCPM
migrating cytotrophoblasts: 0.1 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

cerebral cortex: 2 nTPM
hippocampal formation: 0.3 nTPM
white matter: 0.2 nTPM
amygdala: 0.1 nTPM
basal ganglia: 0.1 nTPM
medulla oblongata: 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): 1.82
gnomAD pLI: 0
gnomAD missense Z: -0.97
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

calcium ion binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of OTOL1 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 OTOL1 as an antibody target. Whether an autoantibody or antibody against OTOL1 could matter depends on whether native OTOL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

OTOL1 is annotated as secreted, so native OTOL1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label OTOL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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