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

Gene ID: 51128, updated on 20-Dec-2019

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

Genomic context

See SAR1B in Genome Data Viewer
Location:
5q31.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (134601149..134632828, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (133936839..133968533, 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
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity TAS
Traceable Author Statement
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
COPII vesicle coating TAS
Traceable Author Statement
more info
 
ER to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
Traceable Author Statement
more info
 
antigen processing and presentation of peptide antigen via MHC class I TAS
Traceable Author Statement
more info
 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein exit from endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of COPII vesicle coating IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
COPII vesicle coat IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ER to Golgi transport vesicle membrane TAS
Traceable Author Statement
more info
 
Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum exit site IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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 109.20191205

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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