RPH3A
Rabphilin-3A
Also known as: exophilin-1, KIAA0985, rabphilin, RP3A_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y2J0
- Gene
- RPH3A
- Ensembl
- ENSG00000089169
- Chromosome
- 12
- Canonical length
- 694 aa
- Protein class
- Predicted intracellular proteins
OverviewNCBI Gene
The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016]
Canonical amino-acid sequenceUniProt
694 residues, UniProt reviewed canonical sequence.
>Q9Y2J0|RPH3A
1 MTDTVFSNSS NRWMYPSDRP LQSNDKEQLQ AGWSVHPGGQ PDRQRKQEEL TDEEKEIINR
61 VIARAEKMEE MEQERIGRLV DRLENMRKNV AGDGVNRCIL CGEQLGMLGS ACVVCEDCKK
121 NVCTKCGVET NNRLHSVWLC KICIEQREVW KRSGAWFFKG FPKQVLPQPM PIKKTKPQQP
181 VSEPAAPEQP APEPKHPARA PARGDSEDRR GPGQKTGPDP ASAPGRGNYG PPVRRASEAR
241 MSSSSRDSES WDHSGGAGDS SRSPAGLRRA NSVQASRPAP GSVQSPAPPQ PGQPGTPGGS
301 RPGPGPAGRF PDQKPEVAPS DPGTTAPPRE ERTGGVGGYP AVGAREDRMS HPSGPYSQAS
361 AAAPQPAAAR QPPPPEEEEE EANSYDSDEA TTLGALEFSL LYDQDNSSLQ CTIIKAKGLK
421 PMDSNGLADP YVKLHLLPGA SKSNKLRTKT LRNTRNPIWN ETLVYHGITD EDMQRKTLRI
481 SVCDEDKFGH NEFIGETRFS LKKLKPNQRK NFNICLERVI PMKRAGTTGS ARGMALYEEE
541 QVERVGDIEE RGKILVSLMY STQQGGLIVG IIRCVHLAAM DANGYSDPFV KLWLKPDMGK
601 KAKHKTQIKK KTLNPEFNEE FFYDIKHSDL AKKSLDISVW DYDIGKSNDY IGGCQLGISA
661 KGERLKHWYE CLKNKDKKIE RWHQLQNENH VSSDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RPH3A 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
- 0
- Mean surface accessibility (rSASA)
- 0.47
- Highest tissue expression
- 115 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 115 nTPM
- cerebellum: 68 nTPM
- basal ganglia: 36 nTPM
- amygdala: 32 nTPM
- hypothalamus: 26 nTPM
- hippocampal formation: 26 nTPM
Single-cell type
- neutrophils: 245 nCPM
- other brain neurons: 220 nCPM
- ependymal cells: 152 nCPM
- brain inhibitory neurons: 146 nCPM
- retinal amacrine cells: 126 nCPM
- brain excitatory neurons: 101 nCPM
Immune cell
- classical monocyte: 6.3 nTPM
- non-classical monocyte: 4.6 nTPM
- intermediate monocyte: 3 nTPM
- neutrophil: 2.2 nTPM
- total PBMC: 1.8 nTPM
- basophil: 0.8 nTPM
Brain region
- cerebral cortex: 250 nTPM
- thalamus: 182 nTPM
- white matter: 164 nTPM
- cerebellum: 122 nTPM
- midbrain: 120 nTPM
- medulla oblongata: 113 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RPH3A.
Disease | AutoantibodyPubMed
Conditions in which antibodies against RPH3A are reported. Each links to that disease's full target list.
Showing 0 of 1 — disease pages carrying at least 10 antigens.
ReferencesPubMed · IEDB
Publications for RPH3A from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.
Reference: AutoantibodyPubMed
8 publications
- Rabphilin-3A as a Targeted Autoantigen in Lymphocytic Infundibulo-neurohypophysitis.
2015 · J Clin Endocrinol Metab · RCR 3.5 · 85 citations - Critical role of rabphilin-3A in the pathophysiology of experimental lymphocytic neurohypophysitis.
2018 · J Pathol · RCR 1.4 · 25 citations - Usefulness of anti-rabphilin-3A antibodies for diagnosing central diabetes insipidus in the third trimester of pregnancy.
2017 · Endocr J · RCR 0.7 · 13 citations - Review on Recent Topics in Hypophysitis.
2017 · J Nippon Med Sch · RCR 0.7 · 13 citations - Autoimmune diabetes insipidus.
2021 · Handb Clin Neurol · RCR 0.7 · 8 citations
Show 3 more
- Arginine vasopressin deficiency onset after COVID-19 vaccination with positive anti-rabphilin-3A antibodies: a case report and literature review.
2024 · BMC Endocr Disord · RCR 0.6 · 2 citations - A case of central diabetes insipidus after COVID-19 as a probable diagnosis of lymphocytic infundibulo-neurohypophysitis with positive anti-rabphilin-3A antibodies with review of literature.
2024 · Endocr J · RCR 0.6 · 2 citations - Diagnosis of Lymphocytic Infundibuloneurohypophysitis After Positive Anti-rabphilin-3A Antibody Test in an 8-year-old Boy with Early-onset Central Diabetes Insipidus.
2025 · J Clin Res Pediatr Endocrinol · 1 citations
Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.
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)
- 0.47
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.31
- DepMap mean gene effect
- 0.09
- DepMap dependency class
- none
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
- calcium-dependent activation of synaptic vesicle fusion
- intracellular protein transport
- positive regulation of calcium ion-dependent exocytosis
- spontaneous neurotransmitter secretion
- synaptic vesicle priming
Molecular functions
- calcium ion binding
- calcium-dependent phospholipid binding
- inositol 1,4,5 trisphosphate binding
- phosphate ion binding
- phosphatidylinositol phosphate binding
- phosphatidylinositol-4,5-bisphosphate binding
- protein-containing complex binding
- selenium binding
- small GTPase binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RPH3A 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 RPH3A as an antibody target. Whether an autoantibody or antibody against RPH3A could matter depends on whether native RPH3A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RPH3A is annotated at the cell surface, where native RPH3A 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 RPH3A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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