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

Gene ID: 5866, updated on 10-Oct-2020

Summary

Official Symbol
RAB3IL1provided by HGNC
Official Full Name
RAB3A interacting protein like 1provided by HGNC
Primary source
HGNC:HGNC:9780
See related
Ensembl:ENSG00000167994
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

Genomic context

See RAB3IL1 in Genome Data Viewer
Location:
11q12.2-q12.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (61897299..61946312, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61664706..61713747, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene fatty acid desaturase 2 Neighboring gene Sharpr-MPRA regulatory region 6587 Neighboring gene fatty acid desaturase 3 Neighboring gene microRNA 6746 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
GeneReviews: Not available
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
GeneReviews: Not available
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
GeneReviews: Not available
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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)

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_001271686.2NP_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:162196
    Sec2p; GDP/GTP exchange factor Sec2p
  2. NM_013401.4NP_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
    Related
    ENSP00000378313.2, ENST00000394836.7
    Conserved Domains (1) summary
    pfam06428
    Location:115159
    Sec2p; GDP/GTP exchange factor Sec2p

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    61897299..61946312 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718647.4XP_006718710.1  guanine nucleotide exchange factor for Rab-3A isoform X5

    Conserved Domains (1) summary
    pfam06428
    Location:162206
    Sec2p; GDP/GTP exchange factor Sec2p
  2. XM_005274140.5XP_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:162206
    Sec2p; GDP/GTP exchange factor Sec2p
  3. XM_011545199.2XP_011543501.1  guanine nucleotide exchange factor for Rab-3A isoform X6

    Conserved Domains (1) summary
    pfam06428
    Location:162196
    Sec2p; GDP/GTP exchange factor Sec2p
  4. XM_011545200.2XP_011543502.1  guanine nucleotide exchange factor for Rab-3A isoform X7

  5. XM_011545196.2XP_011543498.1  guanine nucleotide exchange factor for Rab-3A isoform X1

    Conserved Domains (1) summary
    pfam06428
    Location:162206
    Sec2p; GDP/GTP exchange factor Sec2p
  6. XM_011545197.2XP_011543499.1  guanine nucleotide exchange factor for Rab-3A isoform X2

    Conserved Domains (1) summary
    pfam06428
    Location:121165
    Sec2p; GDP/GTP exchange factor Sec2p
  7. XM_011545198.2XP_011543500.1  guanine nucleotide exchange factor for Rab-3A isoform X3

    Conserved Domains (1) summary
    pfam06428
    Location:115159
    Sec2p; GDP/GTP exchange factor Sec2p
  8. XM_011545201.3XP_011543503.1  guanine nucleotide exchange factor for Rab-3A isoform X8

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