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    SAR1B secretion associated Ras related GTPase 1B [ Homo sapiens (human) ]

    Gene ID: 51128, updated on 8-Jul-2021

    Summary

    Official Symbol
    SAR1Bprovided by HGNC
    Official Full Name
    secretion associated Ras related GTPase 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:10535
    See related
    Ensembl:ENSG00000152700 MIM:607690
    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
    ANDD; CMRD; GTBPB; SARA2
    Summary
    The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]
    Expression
    Ubiquitous expression in liver (RPKM 17.3), small intestine (RPKM 16.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SAR1B in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (134601149..134632828, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (133936839..133968518, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986451 Neighboring gene RNA, 7SL, cytoplasmic 541, pseudogene Neighboring gene jade family PHD finger 2 Neighboring gene HNF4 motif-containing MPRA enhancer 267 Neighboring gene RNA, U6 small nuclear 1311, pseudogene Neighboring gene SEC24 homolog A, COPII coat complex component Neighboring gene RNA, U6 small nuclear 1164, pseudogene

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables GTPase activity TAS
    Traceable Author Statement
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in antigen processing and presentation of peptide antigen via MHC class I TAS
    Traceable Author Statement
    more info
     
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in membrane organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of protein exit from endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of COPII vesicle coating IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in vesicle organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of COPII vesicle coat IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in ER to Golgi transport vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in endoplasmic reticulum exit site IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    GTP-binding protein SAR1b
    Names
    2310075M17Rik
    GTP-binding protein B
    GTP-binding protein Sara
    SAR1 homolog B
    SAR1a gene homolog 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_017002.1 RefSeqGene

      Range
      5016..36695
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001033503.3NP_001028675.1  GTP-binding protein SAR1b

      See identical proteins and their annotated locations for NP_001028675.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC106763, BC093034, CD048852
      Consensus CDS
      CCDS4177.1
      UniProtKB/Swiss-Prot
      Q9Y6B6
      Related
      ENSP00000404997.1, ENST00000439578.5
      Conserved Domains (1) summary
      cd00879
      Location:3197
      Sar1; Sar1 is an essential component of COPII vesicle coats
    2. NM_016103.4NP_057187.1  GTP-binding protein SAR1b

      See identical proteins and their annotated locations for NP_057187.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC106763, BC093034
      Consensus CDS
      CCDS4177.1
      UniProtKB/Swiss-Prot
      Q9Y6B6
      Related
      ENSP00000385432.2, ENST00000402673.7
      Conserved Domains (1) summary
      cd00879
      Location:3197
      Sar1; Sar1 is an essential component of COPII vesicle coats

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      134601149..134632828 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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