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

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: mouse all
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Genomic context

Location:: 5q31.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (134601149..134632828, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (135126762..135158446, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (133936839..133968518, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease.
Title: Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease.
Functional overlap between the mammalian Sar1a and Sar1b paralogs in vivo.
Title: Functional overlap between the mammalian Sar1a and Sar1b paralogs in vivo.
Receptor-Mediated ER Export of Lipoproteins Controls Lipid Homeostasis in Mice and Humans.
Title: Receptor-Mediated ER Export of Lipoproteins Controls Lipid Homeostasis in Mice and Humans.
SAR1B senses leucine levels to regulate mTORC1 signalling.
Title: SAR1B senses leucine levels to regulate mTORC1 signalling.
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.
SAR1B GTPase is necessary to protect intestinal cells from disorders of lipid homeostasis, oxidative stress, and inflammation
Title: SAR1B GTPase is necessary to protect intestinal cells from disorders of lipid homeostasis, oxidative stress, and inflammation.
Chylomicron retention disease is an autosomal recessive disorder, in which intestinal fat malabsorption is the main cause of diverse severe manifestations due to mutations in the SAR1B. (Review)
Title: Chylomicron retention disease: genetics, biochemistry, and clinical spectrum.
Twenty-three patients were genetically confirmed as affected by primary hypobetalipoproteinemia. In this group of patients, the most prevalent mutated genes were APOB (in 17 patients, with eight novel mutations identified), SAR1B (in 3 patients, with one novel mutation identified), ANGPTL3 (in 2 patients), and MTTP (in 1 patient). The other 21 patients could not be genetically diagnosed with hypobetalipoproteinemia despit
Title: Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients.
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.
Targeted next generation DNA sequencing revealed several rare heterozygous missense variants in both MTTP and APOB genes known or predicted to be deleterious, in addition to a novel heterozygous missense variant in SAR1B, which encodes the gene causing chylomicron retention disease
Title: Complex genetic architecture in severe hypobetalipoproteinemia.

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

Associated conditions

Description	Tests
Chylomicron retention disease MedGen: C0795956 OMIM: 246700 GeneReviews: Chylomicron Retention Disease	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-21567 (e-PCR)
- UniSTS:21764

L17688 (e-PCR)
- UniSTS:74509

RH92208 (e-PCR)
- UniSTS:85779

D10S275 (e-PCR)
- UniSTS:147992

D8S2279 (e-PCR)
- UniSTS:473907

D4S133 (e-PCR)
- UniSTS:147261

A006N32 (e-PCR)
- UniSTS:39237

GDB:314949 (e-PCR)
- UniSTS:156503

L17709 (e-PCR)
- UniSTS:42599

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

STS-W67309 (e-PCR)
- UniSTS:72372

RH91372 (e-PCR)
- UniSTS:85943

bac51510T (e-PCR)
- UniSTS:181473

D5S1585E (e-PCR)
- UniSTS:151010

RH47180 (e-PCR)
- UniSTS:6126

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 GTPase activity	TAS Traceable Author Statement more info
enables amino acid sensor activity	IDA Inferred from Direct Assay more info	PubMed
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 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 antigen processing and presentation of peptide antigen via MHC class I	TAS Traceable Author Statement more info
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 endoplasmic reticulum to Golgi vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in lipid export from cell	IEA Inferred from Electronic Annotation more info
involved_in lipid homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in lipoprotein transport	IDA Inferred from Direct Assay more info	PubMed
involved_in lipoprotein transport	ISS Inferred from Sequence or Structural Similarity more info
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 regulation of lipid transport	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 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	IDA Inferred from Direct Assay more info	PubMed
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
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	TAS Traceable Author Statement 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 SAR1B

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

NP_001028675.1

EC 3.6.5.2

NP_057187.1

EC 3.6.5.2

XP_047273213.1

EC 3.6.5.2

XP_047273214.1

EC 3.6.5.2

XP_054208688.1

EC 3.6.5.2

XP_054208689.1

EC 3.6.5.2

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

NG_017002.1 RefSeqGene

Range

5016..36695

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001033503.3 → NP_001028675.1 small COPII coat GTPase 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

D3DQA4, Q567T4, Q9Y6B6

UniProtKB/TrEMBL

Q53F37

Related

ENSP00000404997.1, ENST00000439578.5

Conserved Domains (1) summary

cd00879
Location:3 → 197

Sar1; Sar1 is an essential component of COPII vesicle coats
NM_016103.4 → NP_057187.1 small COPII coat GTPase 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

D3DQA4, Q567T4, Q9Y6B6

UniProtKB/TrEMBL

Q53F37

Related

ENSP00000385432.2, ENST00000402673.7

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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

134601149..134632828 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047417257.1 → XP_047273213.1 small COPII coat GTPase SAR1B isoform X1

UniProtKB/Swiss-Prot

D3DQA4, Q567T4, Q9Y6B6

UniProtKB/TrEMBL

Q53F37
XM_047417258.1 → XP_047273214.1 small COPII coat GTPase SAR1B isoform X2

UniProtKB/TrEMBL

D6R9R5, Q9H029

Related

ENSP00000423197.1, ENST00000509730.5

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

135126762..135158446 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054352713.1 → XP_054208688.1 small COPII coat GTPase SAR1B isoform X1

UniProtKB/Swiss-Prot

D3DQA4, Q567T4, Q9Y6B6

UniProtKB/TrEMBL

Q53F37
XM_054352714.1 → XP_054208689.1 small COPII coat GTPase SAR1B isoform X2

UniProtKB/TrEMBL

D6R9R5, Q9H029