RAB3IP - RAB3A interacting protein Gene

Also Known as RABIN3; RABIN8

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 117177

About RAB3IP

Cytogenetic location: 12q15 Genomic coordinates (GRCh38): 12:69,738,242-69,823,204 (from NCBI)

This gene has 18 transcripts (splice variants), 209 orthologues and 1 paralogue. Broad expression in brain (RPKM 6.7), kidney (RPKM 6.6) and 24 other tissues.

Summary

Enables guanyl-nucleotide exchange factor activity and identical protein binding activity. Involved in cilium assembly; protein localization to organelle; and protein targeting to membrane. Located in centrosome; cytosol; and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

RAB3IP Products (6)

mRNA	Protein	Name
NM_001024647.3	NP_001019818.1	rab-3A-interacting protein isoform A
NM_001278402.1	NP_001265331.1	rab-3A-interacting protein isoform A
NM_022456.5	NP_071901.2	rab-3A-interacting protein isoform alpha 1
NM_175623.4	NP_783322.1	rab-3A-interacting protein isoform alpha 2
NM_175624.4	NP_783323.1	rab-3A-interacting protein isoform beta 1
NM_175625.4	NP_783324.1	rab-3A-interacting protein isoform beta 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	20937701	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	26258637	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12007189	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	17574030	GOA
involved in positive regulation of cilium assembly	IMP IMP: Inferred from mutant phenotype	17574030	GOA
involved in protein localization to motile cilium	IMP IMP: Inferred from mutant phenotype	17574030	GOA
involved in protein localization to organelle	IMP IMP: Inferred from mutant phenotype	17574030	GOA
involved in protein targeting to membrane	IDA IDA: Inferred from direct assay	23382462	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centrosome	IDA IDA: Inferred from direct assay	17574030	GOA
located in cytosol	IDA IDA: Inferred from direct assay	12007189	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12007189	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RAB3IP Protein Structure

Sec2p

0
100
200
300
400
476 a.a.

Protein Preferred Names	Protein Names
rab-3A-interacting protein	SSX2 interacting protein

RAB3IP Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RAB3IP	Q96QF0	KRT40	Homo sapiens	Q6A162	Validated Y2H	25416956
Intra	RAB3IP	Q96QF0	KRT40	Homo sapiens	Q6A162	Y2H Array	25416956
Intra	RAB3IP	Q96QF0	RAB3A	Homo sapiens	P20336	Y2H Array	25416956
Intra	RAB3IP	Q96QF0	SSX2	Homo sapiens	Q16385	Y2H	12007189
Intra	RAB3IP	Q96QF0	PPL	Homo sapiens	O60437	Y2H Prey Pooling	25416956
Intra	RAB3IP	Q96QF0	TRAPPC10	Homo sapiens	P48553	Anti Tag CoIP	21273506
Intra	RAB3IP	Q96QF0	TRAPPC10	Homo sapiens	P48553	TAP	21273506
Intra	RAB3IP	Q96QF0	TRAPPC10	Homo sapiens	P48553	GMS	21273506
Intra	RAB3IP	Q96QF0	TRAPPC10	Homo sapiens	P48553	Confocal	21273506
Intra	RAB3IP	Q96QF0	TRAPPC10	Homo sapiens	P48553	TAP	27173435
Intra	RAB3IP	Q96QF0	ZNF410	Homo sapiens	Q86VK4	Y2H Prey Pooling	25416956
Intra	RAB3IP	Q96QF0	RAB8A	Homo sapiens	P61006	TAP	27173435
Intra	RAB3IP	Q96QF0	PLOD3	Homo sapiens	O60568	Y2H Array	25416956
Intra	RAB3IP	Q96QF0	PLOD3	Homo sapiens	O60568	Validated Y2H	25416956
Intra	RAB3IP	Q96QF0	PLOD3	Homo sapiens	O60568	Y2H Array	29892012
Intra	RAB3IP	Q96QF0	CHCHD3	Homo sapiens	Q9NX63	Y2H Array	25416956
Intra	RAB3IP	Q96QF0	CHCHD3	Homo sapiens	Q9NX63	Validated Y2H	25416956
Intra	RAB3IP	Q96QF0	TRAPPC6A	Homo sapiens	O75865	Y2H Prey Pooling	25416956
Intra	RAB3IP	Q96QF0	TRAPPC6A	Homo sapiens	O75865	Validated Y2H	25416956
Intra	RAB3IP	Q96QF0	TRAPPC6A	Homo sapiens	O75865	TAP	21273506
Intra	RAB3IP	Q96QF0	TRAPPC6A	Homo sapiens	O75865	Y2H Array	25416956
Intra	RAB3IP	Q96QF0	RAB3IL1	Homo sapiens	Q8TBN0	TAP	27173435
Intra	RAB3IP	Q96QF0	RAB3IL1	Homo sapiens	Q8TBN0	Validated Y2H	25416956
Intra	RAB3IP	Q96QF0	RAB3IL1	Homo sapiens	Q8TBN0	Y2H Array	25416956
Intra	RAB3IP	Q96QF0	FAM124A	Homo sapiens	Q86V42	Validated Y2H	25416956
Intra	RAB3IP	Q96QF0	BANP	Homo sapiens	Q8N9N5	Validated Y2H	25416956
Intra	RAB3IP	Q96QF0	BANP	Homo sapiens	Q8N9N5	Y2H Prey Pooling	25416956
Intra	RAB3IP	Q96QF0	NAA10	Homo sapiens	P41227	Y2H Prey Pooling	25416956
Intra	RAB3IP	Q96QF0	NAA10	Homo sapiens	P41227	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Joubert Syndrome 30	JBTS30 Joubert Syndrome, Type 30
Orofaciodigital Syndrome I	OFD1 Orofaciodigital Syndrome 1 Oral-Facial-Digital Syndrome, Type I Oral-Facial-Digital Syndrome 1 Ofds I Papillon-Leage And Psaume Syndrome Papillon-Leage-Psaume Syndrome Oral-Facial-Digital Syndrome Type 1 Orofaciodigital Syndrome Type 1 Orofaciodigital Syndromes Orofaciodigital Syndrome Type I Oral-Facial-Digital Syndrome Type I Ofd Syndrome 1 Ofds 1 Oral Facial Digital Syndrome 1 Oral Facial Digital Syndrome Type 1 Papillon-League-Psaume Syndrome Ofdi Ofdsi Orofaciodigital Syndrome, Type I
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Nephronophthisis 15	NPHP15 Nephronophthisis, Type 15
Carpenter Syndrome 1	Carpenter Syndrome Acrocephalopolysyndactyly Type Ii Acps Ii CRPT1 Acrocephalopolysyndactyly Type 2 Acrocephalosyndactyly, Type Ii Acrocephalopolysyndactyly 2 Acps2 Acps 2 Type Ii Acrocephalosyndactyly Carpenter Syndrome, Type 1 Apert-Crouzon Disease
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11562	RAB3IP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RAB3IP	VGNC	VGNC:56227
Rattus norvegicus	RAB3IP	RGD	RGD:620650
Mus musculus	RAB3IP	MGD	MGI:105933
Canis familiaris	RAB3IP	VGNC	VGNC:54536
Others	RAB3IP	NCBI