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FLASH GENE

Symbol

SAR1A

contributors: mct - updated : 31-01-2017

HGNC name	SAR1a gene homolog 1 (S. cerevisiae)
HGNC id	10534

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive mouth tongue       Lymphoid/Immune lymph node       highly Nervous nerve       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

eye

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal amphipathic alpha helix
	conserved residues located on a unique C-terminal loop involved in SAR1A organization

HOMOLOGY

interspecies

homolog to S.cerevisiae Sar1a

intraspecies	paralog to SAR1B
	homolog to ZFYVE16

Homologene

FAMILY	small GTPase superfamily
	SAR1 family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi

basic FUNCTION	involved in transport from the endoplasmic reticulum to the golgi apparatus
	regulates cell surface expression of CASR
	SAR1A organization regulates membrane constriction
	controls the assembly and fission of COPII vesicles
	play critical roles in the assembly and budding of COPII-coated vesicles in the ER
	SAR1A GTPase activity is critical for procollagen export
	SAR1A and SAR1B proteins lower membrane rigidity at low concentrations, and at high concentrations, increase membrane rigidity
	SAR1A, SAR1B GTPase coordinates the assembly of coat protein complex-II (COPII) at specific sites of the endoplasmic reticulum (ER)
	SAR1A antagonizes the lipoprotein secretion-promoting activity of SAR1B, both isoforms modulate the expression of genes encoding cholesterol biosynthetic enzymes and the synthesis of cholesterol (
	SAR1A, SAR1B dimerization is responsible for the formation of constrictive membrane curvature
	activated SAR1A introduces membrane curvature through its N-terminal amphiphatic helix at the ER-mitochondria interphase and thereby reducing contact size
	regulates the size of ER-mitochondria contact sites through its effects on membrane curvature
	GTPase cycle of SAR1A appears to be responsible for collagen VII exit from the ER

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	during COPII assembly, SAR1A deforms the membrane and recruits the SEC23A-SEC24A complex (SEC23/24), which is the primary cargo-binding adaptor for the system
	TRAPPC2 bound and promoted efficient cycling of SAR1A, a guanosine triphosphatase that can constrict membranes, and thus allowed nascent carriers to grow and incorporate PC prefibrils
	recruitment of PREB by MIA2 contributes to efficient activation of SAR1A in the vicinity of ER exit sites
	MIA2 complex interacts with the GEF and the GAP of SAR1A and tightly regulates its GTPase cycle to accomplish large cargo secretion

cell & other

REGULATION

induced by

Hydroxyurea (HU), (HU induces SAR1A, which in turn activates gamma-globin expression, predominantly through the Gialpha/JNK/Jun pathway

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function attenuates cell surface expression of CASR

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed blood hemoglobin   SAR1A is an alternative therapeutic target for beta-globin disorders

ANIMAL & CELL MODELS