2. Gene
  3. RAB3IL1 - RAB3A interacting protein like 1 Gene

RAB3IL1 - RAB3A interacting protein like 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as GRAB

Gene ID: 5866 | Gene type: protein coding

About RAB3IL1

This gene has 6 transcripts (splice variants), 197 orthologues and 1 paralogue. Broad expression in testis (RPKM 14.8), ovary (RPKM 10.2) and 24 other tissues.

Summary

This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2012]

RAB3IL1 Products(2)

mRNA Protein Name
NM_001271686.2 NP_001258615.1 guanine nucleotide exchange factor for Rab-3A isoform 2
NM_013401.4 NP_037533.2 guanine nucleotide exchange factor for Rab-3A isoform 1
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference 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
16189514 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 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

RAB3IL1 Protein Structure

Sec2p

Sec2p: GDP/GTP exchange factor Sec2p (88 - 166)

  • 0
  • 100
  • 200
  • 300
  • 382 a.a.
Protein Preferred Names Protein Names

guanine nucleotide exchange factor for Rab-3A

RAB3A interacting protein (rabin3)-like 1

Related Diseases

Diseases Alias
Spinocerebellar Ataxia 20

Spinocerebellar Ataxia Type 20

SCA20

Spinocerebellar Ataxia With Dysphonia

Spinocerebellar Ataxia With Spasmodic Cough

Chromosome 11q12 Duplication Syndrome, 260-Kb

Chromosome 11q12 Duplication Syndrome 260-Kb
Achondrogenesis

Achondrogenesis Syndrome
Autoimmune Lymphoproliferative Syndrome

ALPS

Canale-Smith Syndrome

Autoimmune Lymphoproliferative Syndrome, Type Ia

Autoimmune Lymphoproliferative Syndrome, Type Ib

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

Css

Autoimmune Lymphoproliferative Syndrome, Type 1b

Autoimmune Lymphoproliferative Syndrome, Type 1a

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

Fas Deficiency

Autoimmune Lymphoproliferative Syndrome 1a

ALPS1A

Autoimmune Lymphoproliferative Syndrome Type Ia

Autoimmune Lymphoproliferative Syndrome 1b

ALPS1B

Autoimmune Lymphoproliferative Syndrome Type Ib
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS11561 RAB3IL1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus RAB3IL1 RGD RGD:619764
Macaca mulatta RAB3IL1 VGNC VGNC:76638
Felis catus RAB3IL1 VGNC VGNC:69204
Canis familiaris RAB3IL1 VGNC VGNC:45288
Mus musculus RAB3IL1 MGD MGI:1922010
Bos taurus RAB3IL1 VGNC VGNC:33655