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

Gene ID: 51128, updated on 12-Aug-2022

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; AllianceGenome:HGNC:10535
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
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Genomic context

See SAR1B in Genome Data Viewer
Location:
5q31.1
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (134601149..134632828, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (135126762..135158446, complement)
105.20220307 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 LOC124901070 Neighboring gene jade family PHD finger 2 Neighboring gene U7 small nuclear RNA Neighboring gene HNF4 motif-containing MPRA enhancer 267 Neighboring gene RNA, U6 small nuclear 1311, pseudogene Neighboring gene U7 small nuclear RNA Neighboring gene SEC24 homolog A, COPII coat complex component

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 
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)

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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.

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
    Q567T4, 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
    Q567T4, 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 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_000005.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047417257.1XP_047273213.1  GTP-binding protein SAR1b isoform X1

    UniProtKB/Swiss-Prot
    Q567T4
  2. XM_047417258.1XP_047273214.1  GTP-binding protein SAR1b isoform X2

    UniProtKB/TrEMBL
    Q9H029
    Related
    ENSP00000423197.1, ENST00000509730.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    135126762..135158446 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)