RPH3A (rabphilin 3A)

Gene

• Entrez ID: 22895
• Gene name: Rabphilin 3A
• Gene symbol: RPH3A
• Synonyms: -
• Chromosome: 12
• Chromosome location: 12q24.13
• Summary: 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs779991033	G>C	Pathogenic	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048316	hsa-miR-106a-5p	CLASH	23622248
MIRT570528	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT570529	hsa-miR-6739-5p	PAR-CLIP	20371350
MIRT570530	hsa-miR-6733-5p	PAR-CLIP	20371350
MIRT570531	hsa-miR-3153	PAR-CLIP	20371350
MIRT570532	hsa-miR-765	PAR-CLIP	20371350
MIRT570533	hsa-miR-6133	PAR-CLIP	20371350
MIRT570534	hsa-miR-6130	PAR-CLIP	20371350
MIRT570535	hsa-miR-6129	PAR-CLIP	20371350
MIRT570536	hsa-miR-6127	PAR-CLIP	20371350
MIRT570537	hsa-miR-4510	PAR-CLIP	20371350
MIRT570538	hsa-miR-4419a	PAR-CLIP	20371350
MIRT570539	hsa-miR-4784	PAR-CLIP	20371350
MIRT570540	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT570541	hsa-miR-4739	PAR-CLIP	20371350
MIRT570542	hsa-miR-4756-5p	PAR-CLIP	20371350
MIRT570543	hsa-miR-1321	PAR-CLIP	20371350
MIRT570544	hsa-miR-6873-5p	PAR-CLIP	20371350
MIRT570545	hsa-miR-5197-3p	PAR-CLIP	20371350
MIRT654136	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT654136	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT654136	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT654136	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT654137	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT654137	hsa-miR-493-5p	HITS-CLIP	23313552
MIRT654137	hsa-miR-493-5p	HITS-CLIP	21572407
MIRT654137	hsa-miR-493-5p	HITS-CLIP	27418678
MIRT654138	hsa-miR-4666a-5p	HITS-CLIP	23824327
MIRT654138	hsa-miR-4666a-5p	HITS-CLIP	23313552
MIRT654138	hsa-miR-4666a-5p	HITS-CLIP	21572407
MIRT654138	hsa-miR-4666a-5p	HITS-CLIP	27418678
MIRT654139	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT654139	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT654139	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT654139	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT654140	hsa-miR-3177-5p	HITS-CLIP	23824327
MIRT654140	hsa-miR-3177-5p	HITS-CLIP	23313552
MIRT654140	hsa-miR-3177-5p	HITS-CLIP	21572407
MIRT654140	hsa-miR-3177-5p	HITS-CLIP	27418678
MIRT707181	hsa-miR-124-5p	HITS-CLIP	21572407
MIRT784997	hsa-miR-3650	HITS-CLIP	27418678
MIRT785922	hsa-miR-4455	HITS-CLIP	27418678

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	11377421, 15207266
GO:0005544	Function	Calcium-dependent phospholipid binding	ISS
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	ISS
GO:0005794	Component	Golgi apparatus	ISS
GO:0005829	Component	Cytosol	ISS
GO:0006886	Process	Intracellular protein transport	IEA
GO:0008021	Component	Synaptic vesicle	TAS	10099709
GO:0008270	Function	Zinc ion binding	ISS
GO:0008430	Function	Selenium binding	ISS
GO:0019898	Component	Extrinsic component of membrane	ISS
GO:0030141	Component	Secretory granule	ISS
GO:0030672	Component	Synaptic vesicle membrane	ISS
GO:0032991	Component	Protein-containing complex	ISS
GO:0042301	Function	Phosphate ion binding	ISS
GO:0043005	Component	Neuron projection	ISS
GO:0043197	Component	Dendritic spine	IEA
GO:0044877	Function	Protein-containing complex binding	ISS
GO:0045202	Component	Synapse	ISS
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0061669	Process	Spontaneous neurotransmitter secretion	IEA
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	ISS
GO:1901981	Function	Phosphatidylinositol phosphate binding	TAS	10099709

Other IDs

• MIM: 612159
• HGNC: 17056
• e!Ensembl: ENSG00000089169

Protein

• UniProt ID: Q9Y2J0
• Protein name: Rabphilin-3A (Exophilin-1)
• Protein function: Plays an essential role in docking and fusion steps of regulated exocytosis (By similarity). At the presynaptic level, RPH3A is recruited by RAB3A to the synaptic vesicle membrane in a GTP-dependent manner where it modulates synaptic vesicle trafficking and calcium-triggered neurotransmitter release (By similarity). In the post-synaptic compartment, forms a ternary complex with GRIN2A and DLG4 and regulates NMDA receptor stability. Plays also a role in the exocytosis of arginine vasopressin hormone (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02318	FYVE_2	48 → 161	FYVE-type zinc finger	Family
  PF00168	C2	407 → 516	C2 domain	Domain
  PF00168	C2	565 → 671	C2 domain	Domain

• Sequence:

  MTDTVFSNSSNRWMYPSDRPLQSNDKEQLQAGWSVHPGGQPDRQRKQEELTDEEKEIINR
  VIARAEKMEEMEQERIGRLVDRLENMRKNVAGDGVNRCILCGEQLGMLGSACVVCEDCKK
  NVCTKCGVETNNRLHSVWLCKICIEQREVWKRSGAWFFKGFPKQVLPQPMPIKKTKPQQP
  VSEPAAPEQPAPEPKHPARAPARGDSEDRRGPGQKTGPDPASAPGRGNYGPPVRRASEAR
  MSSSSRDSESWDHSGGAGDSSRSPAGLRRANSVQASRPAPGSVQSPAPPQPGQPGTPGGS
  RPGPGPAGRFPDQKPEVAPSDPGTTAPPREERTGGVGGYPAVGAREDRMSHPSGPYSQAS
  AAAPQPAAARQPPPPEEEEEEANSYDSDEATTLGALEFSLLYDQDNSSLQCTIIKAKGLK
  PMDSNGLADPYVKLHLLPGASKSNKLRTKTLRNTRNPIWNETLVYHGITDEDMQRKTLRI
  SVCDEDKFGHNEFIGETRFSLKKLKPNQRKNFNICLERVIPMKRAGTTGSARGMALYEEE
  QVERVGDIEERGKILVSLMYSTQQGGLIVGIIRCVHLAAMDANGYSDPFVKLWLKPDMGK
  KAKHKTQIKKKTLNPEFNEEFFYDIKHSDLAKKSLDISVWDYDIGKSNDYIGGCQLGISA
  KGERLKHWYECLKNKDKKIERWHQLQNENHVSSD

• Sequence length: 694

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	23202125
Coronary heart disease	Coronary heart disease	rs-1	21971053
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288, rs-1	23297363