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SAR1A secretion associated Ras related GTPase 1A [ Homo sapiens (human) ]

Gene ID: 56681, updated on 3-Nov-2024

Summary

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Official Symbol
SAR1Aprovided by HGNC
Official Full Name
secretion associated Ras related GTPase 1Aprovided by HGNC
Primary source
HGNC:HGNC:10534
See related
Ensembl:ENSG00000079332 MIM:607691; AllianceGenome:HGNC:10534
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SAR1; Sara; SARA1; masra2
Summary
Enables G protein activity and amino acid sensor activity. Involved in COPII-coated vesicle budding; cellular response to leucine starvation; and negative regulation of TORC1 signaling. Is active in COPII vesicle coat; endoplasmic reticulum exit site; and lysosomal membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in fat (RPKM 47.2), placenta (RPKM 41.9) and 25 other tissues See more
Orthologs
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Genomic context

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See SAR1A in Genome Data Viewer
Location:
10q22.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (70147289..70170514, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (71016210..71039455, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (71907045..71930270, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene macroH2A.2 histone Neighboring gene AIF family member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:71892372-71892872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71898399-71898899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2441 Neighboring gene trypsin like peroxisomal matrix peptidase 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:71916030-71916530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3497 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:71929236-71929894 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:71929895-71930551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3498 Neighboring gene calmodulin 2 pseudogene 2 Neighboring gene ribosomal protein S25 pseudogene 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71981496-71981996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71981997-71982497 Neighboring gene inorganic pyrophosphatase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2443

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 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. Inhibitors of COPI and COPII do not block PEX3-mediated peroxisome synthesis. South ST, et al. J Cell Biol, 2000 Jun 26. PMID 10871277, Free PMC Article
  2. Pull down assay for GTP-bound form of Sar1a reveals its activation during morphological differentiation. Urai Y, et al. Biochem Biophys Res Commun, 2018 Sep 10. PMID 30078678
  3. Fetal haemoglobin response to hydroxycarbamide treatment and sar1a promoter polymorphisms in sickle cell anaemia. Kumkhaek C, et al. Br J Haematol, 2008 Apr. PMID 18318767, Free PMC Article
  4. SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon. Pule GD, et al. BMC Res Notes, 2017 May 12. PMID 28499394, Free PMC Article
  5. Downregulation of the small GTPase SAR1A: a key event underlying alcohol-induced Golgi fragmentation in hepatocytes. Petrosyan A, et al. Sci Rep, 2015 Nov 26. PMID 26607390, Free PMC Article

See all (113) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Functional overlap between the mammalian Sar1a and Sar1b paralogs in vivo.
    Title: Functional overlap between the mammalian Sar1a and Sar1b paralogs in vivo.
  2. SAR1A regulates the RhoA/YAP and autophagy signaling pathways to influence osteosarcoma invasion and metastasis.
    Title: SAR1A regulates the RhoA/YAP and autophagy signaling pathways to influence osteosarcoma invasion and metastasis.
  3. Small sequence variations between two mammalian paralogs of the small GTPase SAR1 underlie functional differences in coat protein complex II assembly.
    Title: Small sequence variations between two mammalian paralogs of the small GTPase SAR1 underlie functional differences in coat protein complex II assembly.
  4. FABP5 promotes the budding of particles approximately 150 nm in diameter and modulates the kinetics of the SAR1 GTPase cycle.
    Title: Fatty-acid binding protein 5 modulates the SAR1 GTPase cycle and enhances budding of large COPII cargoes.
  5. The Sar1 and PREB are upregulated following the induction of morphological differentiation, suggesting the potential role of signaling through Sar1a during morphological differentiation.
    Title: Pull down assay for GTP-bound form of Sar1a reveals its activation during morphological differentiation.
  6. Study data suggest that SAR1A and SAR1B are the critical regulators of trafficking of Nav1.5. Moreover, SAR1A and SAR1B interact with MOG1, and are required for MOG1-mediated cell surface expression and function of Nav1.5.
    Title: Small GTPases SAR1A and SAR1B regulate the trafficking of the cardiac sodium channel Na(v)1.5.
  7. Study shows that the bona fide nonglycoprotein Nox5, a transmembrane superoxide-producing NADPH oxidase, is transported to the cell surface in a manner resistant to co-expression of Sar1 (H79G), a GTP-fixed mutant of the small GTPase Sar1, which blocks COPII vesicle fission from the endoplasmic reticulum.
    Title: Differential cell surface recruitment of the superoxide-producing NADPH oxidases Nox1, Nox2 and Nox5: The role of the small GTPase Sar1.
  8. No associations were observed between any of the secretion associated Ras related GTPase 1A (SAR1a) promoter variants and baseline fetal hemoglobin HbF among sickle cell disease (SCD) patients.
    Title: SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon.
  9. Sar1 is a novel regulator of endoplasmic reticulum-mitochondrial contact sites in the metazoans.
    Title: Sar1, a Novel Regulator of ER-Mitochondrial Contact Sites.
  10. SAR1A gene silencing in hepatocytes mimics the effect of ethanol: dedimerization of giantin, arresting PDIA3 in the endoplasmic reticulum (ER) and large-scale alterations in Golgi architecture.
    Title: Downregulation of the small GTPase SAR1A: a key event underlying alcohol-induced Golgi fragmentation in hepatocytes.
Submit: New GeneRIF Correction See all GeneRIFs (22)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with SAR1A; predicted interaction to be within the endoplasmic reticulum to Golgi transport PubMed

Go to the HIV-1, Human Interaction Database

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 G protein activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables amino acid sensor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables amino acid sensor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in COPII vesicle coating IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in COPII vesicle coating IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in COPII-coated vesicle cargo loading IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in COPII-coated vesicle cargo loading IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cellular response to leucine starvation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intracellular protein transport IEA
Inferred from Electronic Annotation
more info
  
NOT involved_in lipoprotein transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in membrane organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of COPII vesicle coating IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of TORC1 signaling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in vesicle organization IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of COPII vesicle coat IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of COPII vesicle coat IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
is_active_in endoplasmic reticulum exit site IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in endoplasmic reticulum exit site IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum exit site IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in lysosomal membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
small COPII coat GTPase SAR1A
Names
COPII-associated small GTPase
GTP-binding protein SAR1a
SAR1 gene homolog A
SAR1 homolog A
SAR1a gene homolog 1
NP_001136120.1
NP_064535.1

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_001142648.2 → NP_001136120.1  small COPII coat GTPase SAR1A

    See identical proteins and their annotated locations for NP_001136120.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL731540, AW128933, BC003658, BG327663, DB216796, DR763562, EB388518
    Consensus CDS
    CCDS7298.1
    UniProtKB/Swiss-Prot
    B4DQ19, Q9NR31
    UniProtKB/TrEMBL
    B2R679, Q5SQT9, Q8NG23
    Related
    ENSP00000362339.1, ENST00000373242.6
    Conserved Domains (1) summary
    cd00879
    Location:3 → 197
    Sar1; Sar1 is an essential component of COPII vesicle coats

  2. NM_020150.5 → NP_064535.1  small COPII coat GTPase SAR1A

    See identical proteins and their annotated locations for NP_064535.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL731540, AW128933, BC003658, DB216796, DR763562, EB388518
    Consensus CDS
    CCDS7298.1
    UniProtKB/Swiss-Prot
    B4DQ19, Q9NR31
    UniProtKB/TrEMBL
    B2R679, Q5SQT9, Q8NG23
    Related
    ENSP00000362338.4, ENST00000373241.9
    Conserved Domains (1) summary
    cd00879
    Location:3 → 197
    Sar1; Sar1 is an essential component of COPII vesicle coats

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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    70147289..70170514 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    71016210..71039455 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NR31.1 GenPept UniProtKB/Swiss-Prot:Q9NR31

Gene LinkOut

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

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Chemical Information
Molecular Biology Databases
Research Materials
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