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

    Gene ID: 5866, updated on 28-Nov-2024

    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 MIM:621025; 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
    mouse all
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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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (61897301..61946323, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (61886105..61935133, complement)
    RS_2024_09 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 H3K27ac hESC enhancer GRCh37_chr11:61615549-61616049 Neighboring gene uncharacterized LOC124902679 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61624465-61624966 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:61628720-61629220 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:61629221-61629721 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:61642149-61642697 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61646639-61647348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61655245-61655746 Neighboring gene fatty acid desaturase 3 Neighboring gene microRNA 6746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61657348-61658037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61658038-61658726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3407 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61666908-61667879 Neighboring gene Sharpr-MPRA regulatory region 8487 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:61705992-61706140 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:61709325-61709979 Neighboring gene RNA, U6 small nuclear 1243, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:61711149-61711650 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:61713521-61713684 Neighboring gene uncharacterized LOC107984334 Neighboring gene bestrophin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3410 Neighboring gene uncharacterized LOC399900 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 (27) citations in PubMed

    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)

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    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
      Q86V32, 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: GCF_000001405.40-RS_2024_08

    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

      UniProtKB/TrEMBL
      E9PK89
      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

      UniProtKB/TrEMBL
      E9PK89
      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

      UniProtKB/TrEMBL
      E9PK89
      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..61935133 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369580.1 → XP_054225555.1  guanine nucleotide exchange factor for Rab-3A isoform X5

    2. XM_054369579.1 → XP_054225554.1  guanine nucleotide exchange factor for Rab-3A isoform X4

    3. XM_054369582.1 → XP_054225557.1  guanine nucleotide exchange factor for Rab-3A isoform X7

    4. XM_054369581.1 → XP_054225556.1  guanine nucleotide exchange factor for Rab-3A isoform X6

    5. XM_054369583.1 → XP_054225558.1  guanine nucleotide exchange factor for Rab-3A isoform X8

    6. XM_054369576.1 → XP_054225551.1  guanine nucleotide exchange factor for Rab-3A isoform X1

    7. XM_054369577.1 → XP_054225552.1  guanine nucleotide exchange factor for Rab-3A isoform X2

    8. XM_054369578.1 → XP_054225553.1  guanine nucleotide exchange factor for Rab-3A isoform X3

    9. XM_054369584.1 → XP_054225559.1  guanine nucleotide exchange factor for Rab-3A isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TBN0.1 GenPept UniProtKB/Swiss-Prot:Q8TBN0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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