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

Summary

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: Predicted to enable GTPase activity. Involved in COPII-coated vesicle cargo loading. Part of COPII vesicle coat. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in fat (RPKM 47.2), placenta (RPKM 41.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (70147289..70170514, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (71016210..71039455, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (71907045..71930270, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
Sar1 is a novel regulator of endoplasmic reticulum-mitochondrial contact sites in the metazoans.
Title: Sar1, a Novel Regulator of ER-Mitochondrial Contact Sites.
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.
Data indicate that hydroxyurea (HU) induces SAR1 protein expression, which in turn activates gamma-globin expression, predominantly through the Gialpha/JNK/Jun pathway.
Title: Hydroxyurea-inducible SAR1 gene acts through the Giα/JNK/Jun pathway to regulate γ-globin expression.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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)

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

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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

STS-T93317 (e-PCR)
- UniSTS:1024

RH80472 (e-PCR)
- UniSTS:86099

STS-W79509 (e-PCR)
- UniSTS:20865

WI-16722 (e-PCR)
- UniSTS:47828

SHGC-31373 (e-PCR)
- UniSTS:47317

SAR1A (e-PCR)
- UniSTS:503011

MARC_21359-21360:1023909782:1 (e-PCR)
- UniSTS:268541

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	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
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 positive regulation of protein exit from endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of COPII vesicle coating	IBA Inferred from Biological aspect of Ancestor more info
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 apparatus	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	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: GTP-binding protein SAR1a

Names: COPII-associated small GTPase; SAR1 gene homolog A; SAR1 homolog A; SAR1a gene homolog 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)

NM_001142648.2 → NP_001136120.1 GTP-binding protein 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
NM_020150.5 → NP_064535.1 GTP-binding protein 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