• Gene id: 22895

Gene Summary

• Gene Symbol: RPH3A   Gene   UCSC   Ensembl
• Gene name: rabphilin 3A
• Alternate names: rabphilin-3A, exophilin-1, rabphilin 3A homolog,
• Gene location: 12q24.13 (112575235: 112898880)     Exons: 27     NC_000012.12
• Gene summary(Entrez): 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.
• OMIM: 606627

Protein Summary

• Protein general information: Q9Y2J0  
  • Name: Rabphilin 3A (Exophilin 1)
  • Length: 694  
  • Mass: 76872
• Sequence:

  MTDTVFSNSSNRWMYPSDRPLQSNDKEQLQAGWSVHPGGQPDRQRKQEELTDEEKEIINRVIARAEKMEEMEQER
  IGRLVDRLENMRKNVAGDGVNRCILCGEQLGMLGSACVVCEDCKKNVCTKCGVETNNRLHSVWLCKICIEQREVW
  KRSGAWFFKGFPKQVLPQPMPIKKTKPQQPVSEPAAPEQPAPEPKHPARAPARGDSEDRRGPGQKTGPDPASAPG
  RGNYGPPVRRASEARMSSSSRDSESWDHSGGAGDSSRSPAGLRRANSVQASRPAPGSVQSPAPPQPGQPGTPGGS
  RPGPGPAGRFPDQKPEVAPSDPGTTAPPREERTGGVGGYPAVGAREDRMSHPSGPYSQASAAAPQPAAARQPPPP
  EEEEEEANSYDSDEATTLGALEFSLLYDQDNSSLQCTIIKAKGLKPMDSNGLADPYVKLHLLPGASKSNKLRTKT
  LRNTRNPIWNETLVYHGITDEDMQRKTLRISVCDEDKFGHNEFIGETRFSLKKLKPNQRKNFNICLERVIPMKRA
  GTTGSARGMALYEEEQVERVGDIEERGKILVSLMYSTQQGGLIVGIIRCVHLAAMDANGYSDPFVKLWLKPDMGK
  KAKHKTQIKKKTLNPEFNEEFFYDIKHSDLAKKSLDISVWDYDIGKSNDYIGGCQLGISAKGERLKHWYECLKNK
  DKKIERWHQLQNENHVSSD

• Structural information:
  • Protein Domains: (44..16-)
    (/note="RabBD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00234-)
    (392..51-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (550..68-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR000008  IPR035892  IPR041282  IPR010911  IPR028698   IPR001565  IPR017455  IPR011011  IPR013083  
  • Prosite: PS50004 PS50916 PS50178
  • STRING: ENSP00000374036
• Other Databases: GeneCards:  RPH3A  Malacards:  RPH3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008270	zinc ion binding	ISS	molecular function
GO:1901981	phosphatidylinositol phosphate binding	TAS	molecular function
GO:0070679	inositol 1,4,5 trisphosphate binding	ISS	molecular function
GO:0042301	phosphate ion binding	ISS	molecular function
GO:0008021	synaptic vesicle	TAS	cellular component
GO:0019898	extrinsic component of membrane	ISS	cellular component
GO:0030141	secretory granule	ISS	cellular component
GO:0008430	selenium binding	ISS	molecular function
GO:0005794	Golgi apparatus	ISS	colocalizes with
GO:0005829	cytosol	ISS	cellular component
GO:0032991	protein-containing complex	ISS	cellular component
GO:0043005	neuron projection	ISS	cellular component
GO:0044877	protein-containing complex binding	ISS	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	ISS	molecular function
GO:0030672	synaptic vesicle membrane	ISS	cellular component
GO:0045202	synapse	ISS	cellular component
GO:0005544	calcium-dependent phospholipid binding	ISS	molecular function
GO:0005509	calcium ion binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0006886	intracellular protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0061669	spontaneous neurotransmitter secretion	IEA	biological process
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881