RAB3IL1 (RAB3A interacting protein like 1)

Gene

• Entrez ID: 5866
• Gene name: RAB3A interacting protein like 1
• Gene symbol: RAB3IL1
• Synonyms (NCBI Gene): GRAB
• Chromosome: 11
• Chromosome location: 11q12.2-q12.3
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022429	hsa-miR-124-3p	Microarray	18668037
MIRT1284552	hsa-miR-342-5p	CLIP-seq
MIRT1284553	hsa-miR-3689a-3p	CLIP-seq
MIRT1284554	hsa-miR-3689c	CLIP-seq
MIRT1284555	hsa-miR-4260	CLIP-seq
MIRT1284556	hsa-miR-4273	CLIP-seq
MIRT1284557	hsa-miR-4314	CLIP-seq
MIRT1284558	hsa-miR-4455	CLIP-seq
MIRT1284559	hsa-miR-4504	CLIP-seq
MIRT1284560	hsa-miR-4651	CLIP-seq
MIRT1284561	hsa-miR-4664-5p	CLIP-seq
MIRT1284562	hsa-miR-4667-5p	CLIP-seq
MIRT1284563	hsa-miR-4677-5p	CLIP-seq
MIRT1284564	hsa-miR-4700-5p	CLIP-seq
MIRT1284565	hsa-miR-4728-5p	CLIP-seq
MIRT1284566	hsa-miR-4747-5p	CLIP-seq
MIRT1284567	hsa-miR-4778-5p	CLIP-seq
MIRT1284568	hsa-miR-486-3p	CLIP-seq
MIRT1284569	hsa-miR-608	CLIP-seq
MIRT1284570	hsa-miR-609	CLIP-seq
MIRT1284571	hsa-miR-637	CLIP-seq
MIRT1284552	hsa-miR-342-5p	CLIP-seq
MIRT1284556	hsa-miR-4273	CLIP-seq
MIRT1284557	hsa-miR-4314	CLIP-seq
MIRT1284561	hsa-miR-4664-5p	CLIP-seq
MIRT1284562	hsa-miR-4667-5p	CLIP-seq
MIRT1284563	hsa-miR-4677-5p	CLIP-seq
MIRT1284564	hsa-miR-4700-5p	CLIP-seq
MIRT2084497	hsa-miR-4701-5p	CLIP-seq
MIRT2084498	hsa-miR-588	CLIP-seq
MIRT1284571	hsa-miR-637	CLIP-seq
MIRT2309610	hsa-miR-149	CLIP-seq
MIRT2309611	hsa-miR-3064-5p	CLIP-seq
MIRT1284552	hsa-miR-342-5p	CLIP-seq
MIRT1284556	hsa-miR-4273	CLIP-seq
MIRT1284557	hsa-miR-4314	CLIP-seq
MIRT1284558	hsa-miR-4455	CLIP-seq
MIRT1284560	hsa-miR-4651	CLIP-seq
MIRT1284561	hsa-miR-4664-5p	CLIP-seq
MIRT1284562	hsa-miR-4667-5p	CLIP-seq
MIRT1284563	hsa-miR-4677-5p	CLIP-seq
MIRT1284564	hsa-miR-4700-5p	CLIP-seq
MIRT2309612	hsa-miR-4726-3p	CLIP-seq
MIRT2309613	hsa-miR-4758-3p	CLIP-seq
MIRT2309614	hsa-miR-4763-5p	CLIP-seq
MIRT1284569	hsa-miR-608	CLIP-seq
MIRT1284570	hsa-miR-609	CLIP-seq
MIRT1284571	hsa-miR-637	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	20937701
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 25416956, 27173435, 31515488, 32296183, 33961781, 36217029
GO:0005829	Component	Cytosol	TAS
GO:0015031	Process	Protein transport	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514, 25416956, 31515488

Other IDs

• MIM: 621025
• HGNC: 9780
• e!Ensembl: ENSG00000167994

Protein

• UniProt ID: Q8TBN0
• Protein name: Guanine nucleotide exchange factor for Rab-3A (Rab-3A-interacting-like protein 1) (Rab3A-interacting-like protein 1) (Rabin3-like 1)
• Protein function: Guanine nucleotide exchange factor (GEF) which may activate RAB3A, a GTPase that regulates synaptic vesicle exocytosis. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May also ac
• PDB: 4LI0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06428	Sec2p	89 → 172	GDP/GTP exchange factor Sec2p	Coiled-coil

• Sequence:

  MWSGPPQPDQGLPPPLAAVPVPWKSTDPCQGHRESPGALVETSAGEEAQGQEGPAAAQLD
  VLRLRSSSMEIREKGSEFLKEELHRAQKELKLKDEECERLSKVREQLEQELEELTASLFE
  EAHKMVREANMKQAASEKQLKEARGKIDMLQAEVTALKTLVITSTPASPNRELHPQLLSP
  TKAGPRKGHSRHKSTSSTLCPAVCPAAGHTLTPDREGKEVDTILFAEFQAWRESPTLDKT
  CPFLERVYREDVGPCLDFTMQELSVLVRAAVEDNTLTIEPVASQTLPTVKVAEVDCSSTN
  TCALSGLTRTCRHRIRLGDSKSHYYISPSSRARITAVCNFFTYIRYIQQGLVRQDAEPMF
  WEIMRLRKEMSLAKLGFFPQEA

• Sequence length: 382

Pathways

Reactome:

RAB GEFs exchange GTP for GDP on RABs

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Autism Spectrum Disorder	Associate	40483526	★☆☆☆☆ Found in Text Mining only
Language Disorders	Associate	40483526	★☆☆☆☆ Found in Text Mining only