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FLASH GENE

Symbol

SEC23A

contributors: mct/npt/pgu - updated : 05-11-2014

HGNC name	Sec23 homolog A (S. cerevisiae)
HGNC id	10701

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CLSD craniolenticulosutural dysplasia
Location	14q21.1      Physical location : 39.501.122 - 39.572.437
Synonym name	transport protein Sec23 isoform A
	COPII protein, homolog of S. cerevisiae SEC23p
	SEC23-related protein A
Synonym symbol(s)	MGC26267

DNA

TYPE	functioning gene
STRUCTURE	71.31 kb     20 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006364 20 - 3890 NP_006355 - 765 - 2006 16980978

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 Digestive mouth       highly Reproductive female system uterus     highly Respiratory respiratory tract trachea     highly

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erythroid

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

neonatal

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to rattus Sec23a (98.8pc)
	homolog to murine Sec23a (99.0pc)

Homologene

FAMILY	SEC23/SEC24 family
	SEC23 subfamily

CATEGORY

transport

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

basic FUNCTION	may be playing a role in the ER-Golgi protein trafficking
	playing an essential role for craniofacial chondrocyte maturation
	functioning as a SAR1-specific GTPase-activating protein that hydrolyzes the GTP bound to SAR1
	with SEC23B, although highly related paralogous secretory COPII components, are nonredundant in erythrocyte maturation
	plays a critical role in generating transport vesicles from the endoplasmic reticulum (ER)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

text	vesicular transport from the endocytoplasmic reticulum to the Golgi apparatus

PATHWAY

metabolism

signaling

a component

component of COPII coat protein complex responsible for vesicle budding from the ER

INTERACTION

DNA

RNA

small molecule

protein	SEC13/31 complex
	SAR1
	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
	CFDP1, Sec23 homolog A (SEC23A), and nuclear receptor binding SET domain protein 1 (NSD1), contain consensus GTF2I binding sites in their proximal promoters
	CREB3L2-mediated SEC23A pathway is involved in regulation of intracellular procollagen trafficking
	target of CREB3L2 is SEC23A, one of the coat protein complex II components
	endoplasmic reticulum stress reduces COPII vesicle formation and modifies SEC23A cycling at ER Exit Sites
	activated CREB3L2 accelerates cartilage matrix protein secretion through the up-regulation of SEC23A, which is responsible for protein transport from the ER to the Golgi apparatus and is a target of CREB3L2
	novel regulatory mechanisms of SOX9 for controlling the secretion of cartilage matrix proteins through the activation of CREB3L2-SEC23A signaling during chondrogenesis

cell & other

REGULATION

activated by

CREB3L2

ASSOCIATED DISORDERS

corresponding disease(s)

CLSD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS