• Gene id: 117177

Gene Summary

• Gene Symbol: RAB3IP   Gene   UCSC   Ensembl
• Aliases: RABIN3, RABIN8
• Gene name: RAB3A interacting protein
• Alternate names: rab-3A-interacting protein, SSX2 interacting protein, rab3A-interacting protein, rabin-3,
• Gene location: 12q15 (69738006: 69823203)     Exons: 17     NC_000012.12
• OMIM: 608686

Protein Summary

• Protein general information: Q96QF0  
  • Name: Rab 3A interacting protein (Rab3A interacting protein) (Rabin 3) (SSX2 interacting protein)
  • Length: 476  
  • Mass: 53021
  • Tissue specificity: Expressed in brain, kidney, heart, pancreas and placenta. Not detected in skeletal muscle or liver. {ECO
• Sequence:

  MGLKKMKGLSYDEAFAMANDPLEGFHEVNLASPTSPDLLGVYESGTQEQTTSPSVIYRPHPSALSSVPIQANALD
  VSELPTQPVYSSPRRLNCAEISSISFHVTDPAPCSTSGVTAGLTKLTTRKDNYNAEREFLQGATITEACDGSDDI
  FGLSTDSLSRLRSPSVLEVREKGYERLKEELAKAQRELKLKDEECERLSKVRDQLGQELEELTASLFEEAHKMVR
  EANIKQATAEKQLKEAQGKIDVLQAEVAALKTLVLSSSPTSPTQEPLPGGKTPFKKGHTRNKSTSSAMSGSHQDL
  SVIQPIVKDCKEADLSLYNEFRLWKDEPTMDRTCPFLDKIYQEDIFPCLTFSKSELASAVLEAVENNTLSIEPVG
  LQPIRFVKASAVECGGPKKCALTGQSKSCKHRIKLGDSSNYYYISPFCRYRITSVCNFFTYIRYIQQGLVKQQDV
  DQMFWEVMQLRKEMSLAKLGYFKEEL

• Structural information:
  • Interpro: IPR040351  IPR009449  
  • PDB: 4LHX 4LHY 4LHZ 4UJ3 4UJ4 4UJ5 6F6P
  • PDBsum: 4LHX 4LHY 4LHZ 4UJ3 4UJ4 4UJ5 6F6P
  • DIP: 41703
  • STRING: ENSP00000447300
• Other Databases: GeneCards:  RAB3IP  Malacards:  RAB3IP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070319	Golgi to plasma membrane transport vesicle	IBA	cellular component
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0006887	exocytosis	IBA	biological process
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0017112	Rab guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0017112	Rab guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030027	lamellipodium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0006612	protein targeting to membrane	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray