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RAB3IL1 RAB3A interacting protein like 1 [ Homo sapiens (human) ]

Gene ID: 5866, updated on 13-Aug-2022

Summary

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Official Symbol
RAB3IL1provided by HGNC
Official Full Name
RAB3A interacting protein like 1provided by HGNC
Primary source
HGNC:HGNC:9780
See related
Ensembl:ENSG00000167994 AllianceGenome:HGNC:9780
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GRAB
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]
Expression
Broad expression in testis (RPKM 14.8), ovary (RPKM 10.2) and 24 other tissues See more
Orthologs
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Genomic context

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See RAB3IL1 in Genome Data Viewer
Location:
11q12.2-q12.3
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (61897301..61946323, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (61886105..61909089, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61664773..61687756, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene fatty acid desaturase 2 Neighboring gene uncharacterized LOC124902679 Neighboring gene fatty acid desaturase 3 Neighboring gene microRNA 6746 Neighboring gene Sharpr-MPRA regulatory region 8487 Neighboring gene RNA, U6 small nuclear 1243, pseudogene Neighboring gene uncharacterized LOC107984334 Neighboring gene bestrophin 1 Neighboring gene ferritin heavy chain 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Small G proteins as key regulators of pancreatic digestive enzyme secretion. Williams JA, et al. Am J Physiol Endocrinol Metab, 2009 Mar. PMID 19088252, Free PMC Article
  2. Identification of hub genes in unstable atherosclerotic plaque by conjoint analysis of bioinformatics. Zhang R, et al. Life Sci, 2020 Dec 1. PMID 33011223
  3. Intermediates in the guanine nucleotide exchange reaction of Rab8 protein catalyzed by guanine nucleotide exchange factors Rabin8 and GRAB. Guo Z, et al. J Biol Chem, 2013 Nov 8. PMID 24072714, Free PMC Article
  4. Grab recruitment by Rab27A-Rabphilin3a triggers Rab3A activation in human sperm exocytosis. Quevedo MF, et al. Biochim Biophys Acta Mol Cell Res, 2019 Apr. PMID 30599141
  5. GRAB: a physiologic guanine nucleotide exchange factor for Rab3A, which interacts with inositol hexakisphosphate kinase. Luo HR, et al. Neuron, 2001 Aug 16. PMID 11516400

See all (24) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of hub genes in unstable atherosclerotic plaque by conjoint analysis of bioinformatics.
    Title: Identification of hub genes in unstable atherosclerotic plaque by conjoint analysis of bioinformatics.
  2. Rab27/Rabphilin3a/GRAB/Rab3 constitutes a signaling module in sperm exocytosis.
    Title: Grab recruitment by Rab27A-Rabphilin3a triggers Rab3A activation in human sperm exocytosis.
  3. Intermediates in the guanine nucleotide exchange reaction of Rab8 protein catalyzed by guanine nucleotide exchange factors Rabin8 and GRAB.
    Title: Intermediates in the guanine nucleotide exchange reaction of Rab8 protein catalyzed by guanine nucleotide exchange factors Rabin8 and GRAB.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
EBI GWAS Catalog
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
EBI GWAS Catalog
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
EBI GWAS Catalog
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in Golgi to plasma membrane transport vesicle IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
guanine nucleotide exchange factor for Rab-3A
Names
RAB3A interacting protein (rabin3)-like 1
rab3A-interacting-like protein 1
rabin3-like 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001271686.2 → NP_001258615.1  guanine nucleotide exchange factor for Rab-3A isoform 2

    See identical proteins and their annotated locations for NP_001258615.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AP006260, BC022239, BC051820
    Consensus CDS
    CCDS60809.1
    UniProtKB/Swiss-Prot
    Q8TBN0
    Related
    ENSP00000301773.5, ENST00000301773.9
    Conserved Domains (1) summary
    pfam06428
    Location:162 → 196
    Sec2p; GDP/GTP exchange factor Sec2p

  2. NM_013401.4 → NP_037533.2  guanine nucleotide exchange factor for Rab-3A isoform 1

    See identical proteins and their annotated locations for NP_037533.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AP006260, BC022239, BQ946081, DR004757
    Consensus CDS
    CCDS8014.1
    UniProtKB/Swiss-Prot
    Q8TBN0, Q9P1Q8
    Related
    ENSP00000378313.2, ENST00000394836.7
    Conserved Domains (1) summary
    pfam06428
    Location:115 → 159
    Sec2p; GDP/GTP exchange factor Sec2p

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    61897301..61946323 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718647.5 → XP_006718710.1  guanine nucleotide exchange factor for Rab-3A isoform X5

    Conserved Domains (1) summary
    pfam06428
    Location:162 → 206
    Sec2p; GDP/GTP exchange factor Sec2p

  2. XM_005274140.6 → XP_005274197.1  guanine nucleotide exchange factor for Rab-3A isoform X4

    See identical proteins and their annotated locations for XP_005274197.1

    Related
    ENSP00000435444.2, ENST00000531922.2
    Conserved Domains (1) summary
    pfam06428
    Location:162 → 206
    Sec2p; GDP/GTP exchange factor Sec2p

  3. XM_047427380.1 → XP_047283336.1  guanine nucleotide exchange factor for Rab-3A isoform X7

    Conserved Domains (2) summary
    cl41767
    Location:216 → 377
    Rab11BD_RAB3IP_like; Rab11 binding domain of Rab-3A-interacting protein (RAB3IP), Rab-3A-interacting-like protein 1 (RAB3IL1) and similar proteins
    pfam06428
    Location:115 → 159
    Sec2p; GDP/GTP exchange factor Sec2p

  4. XM_011545199.3 → XP_011543501.1  guanine nucleotide exchange factor for Rab-3A isoform X6

    Conserved Domains (1) summary
    pfam06428
    Location:162 → 196
    Sec2p; GDP/GTP exchange factor Sec2p

  5. XM_011545200.3 → XP_011543502.1  guanine nucleotide exchange factor for Rab-3A isoform X8

  6. XM_011545196.3 → XP_011543498.1  guanine nucleotide exchange factor for Rab-3A isoform X1

    Conserved Domains (1) summary
    pfam06428
    Location:162 → 206
    Sec2p; GDP/GTP exchange factor Sec2p

  7. XM_011545197.3 → XP_011543499.1  guanine nucleotide exchange factor for Rab-3A isoform X2

    Conserved Domains (1) summary
    pfam06428
    Location:121 → 165
    Sec2p; GDP/GTP exchange factor Sec2p

  8. XM_011545198.3 → XP_011543500.1  guanine nucleotide exchange factor for Rab-3A isoform X3

    Conserved Domains (1) summary
    pfam06428
    Location:115 → 159
    Sec2p; GDP/GTP exchange factor Sec2p

  9. XM_011545201.4 → XP_011543503.1  guanine nucleotide exchange factor for Rab-3A isoform X9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    61886105..61909089 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TBN0.1 GenPept UniProtKB/Swiss-Prot:Q8TBN0

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