SEC23A SEC23 homolog A, COPII coat complex component [Homo sapiens (human)] - Gene

Summary

Official Symbol: SEC23Aprovided by HGNC
Official Full Name: SEC23 homolog A, COPII coat complex componentprovided by HGNC
Primary source: HGNC:HGNC:10701
See related: Ensembl:ENSG00000100934 MIM:610511; AllianceGenome:HGNC:10701
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: CLSD; hSec23A
Summary: The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in duodenum (RPKM 27.6), small intestine (RPKM 25.4) and 24 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 14q21.1

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (39031919..39103235, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (33220592..33291912, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (39501123..39572439, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients.
Title: Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients.
SEC23A confers ER stress resistance in gastric cancer by forming the ER stress-SEC23A-autophagy negative feedback loop.
Title: SEC23A confers ER stress resistance in gastric cancer by forming the ER stress-SEC23A-autophagy negative feedback loop.
MiR-29b-3p Inhibits the Inflammation Injury in Human Umbilical Vein Endothelial Cells by Regulating SEC23A.
Title: MiR-29b-3p Inhibits the Inflammation Injury in Human Umbilical Vein Endothelial Cells by Regulating SEC23A.
Transduction with BBF2H7/CREB3L2 upregulates SEC23A protein in erythroblasts and partially corrects the hypo-glycosylation phenotype associated with CDAII.
Title: Transduction with BBF2H7/CREB3L2 upregulates SEC23A protein in erythroblasts and partially corrects the hypo-glycosylation phenotype associated with CDAII.
identified Sec23a, a gene target of miR-200c, suppresses miR-200c augmented oligometastatic to polymetastatic progression via its secretome. Firstly, miR-200c over-expression and Sec23a interference accelerated oligometastatic to polymetatic progression. Secondly, Sec23a functions downstream of miR-200c.
Title: Sec23a mediates miR-200c augmented oligometastatic to polymetastatic progression.
This larger GWAS yields two loci harboring genome-wide significant variants affecting serum 25-hydroxyvitamin D levels (P = 4.7x10(-9) at rs8018720 in SEC23A, and P = 1.9x10(-14) at rs10745742 in AMDHD1).
Title: Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.
these data demonstrate an equivalent function for SEC23A/B, with evolutionary shifts in the transcription program likely accounting for the distinct phenotypes of SEC23A/B deficiency within and across species, a paradigm potentially applicable to other sets of paralogous genes.
Title: Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo.
Mutation on serine207 of Sec23A protein changes Unc-51 like kinase 1(ULK 1) targeted phosphorylation. During elevated autophagy, induced by amino acid starvation, rapamycin, or overexpression of ULK1,phosphorylation of Sec23A reduced the interaction between vesicular transport proteins Sec23A and Sec31A.
Title: ULK1 phosphorylates Sec23A and mediates autophagy-induced inhibition of ER-to-Golgi traffic.
Data indicate that vesicular transport protein SEC23A as a target of miR-375.
Title: MicroRNA-375/SEC23A as biomarkers of the in vitro efficacy of vandetanib.
findings suggest that miR-21 promoted proliferation, migration, and invasion of colorectal cancer cells in vitro by down regulating the expression of Sec23A
Title: MicroRNA-21 promotes proliferation, migration, and invasion of colorectal cancer, and tumor growth associated with down-regulation of sec23a expression.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

Go to the top of the page Help

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
Craniolenticulosutural dysplasia MedGen: C1843042 OMIM: 607812 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D14S644E (e-PCR)
- UniSTS:53050

RH78878 (e-PCR)
- UniSTS:31574

G35986 (e-PCR)
- UniSTS:45950

SEC23A_1368 (e-PCR)
- UniSTS:277693

SEC23A_v440 (e-PCR)
- UniSTS:277693

RH120113 (e-PCR)
- UniSTS:132318

A003B13 (e-PCR)
- UniSTS:39651

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in COPII-coated vesicle cargo loading	IBA Inferred from Biological aspect of Ancestor more info
involved_in COPII-coated vesicle cargo loading	IDA Inferred from Direct Assay more info	PubMed
involved_in COPII-coated vesicle cargo loading	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in protein localization to plasma membrane	IEA Inferred from Electronic Annotation 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	IGI Inferred from Genetic Interaction more info	PubMed
located_in ER to Golgi transport vesicle membrane	TAS Traceable Author Statement more info
located_in Golgi 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
located_in endoplasmic reticulum exit site	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: protein transport protein Sec23A

Names: SEC23-related protein A; Sec23 homolog A, coat complex II component

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_012157.1 RefSeqGene

Range

4999..76315

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006364.4 → NP_006355.2 protein transport protein Sec23A

See identical proteins and their annotated locations for NP_006355.2

Status: REVIEWED

Source sequence(s)

BC036649, BM541968, DC335582, X97064

Consensus CDS

CCDS9668.1

UniProtKB/Swiss-Prot

B2R5P4, B3KXI2, Q15436, Q8NE16

UniProtKB/TrEMBL

F5H365

Related

ENSP00000306881.6, ENST00000307712.11

Conserved Domains (1) summary

PLN00162
Location:12 → 763

PLN00162; transport protein sec23; Provisional

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_000014.9 Reference GRCh38.p14 Primary Assembly

Range

39031919..39103235 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005267262.2 → XP_005267319.1 protein transport protein Sec23A isoform X1

UniProtKB/TrEMBL

F5H365

Conserved Domains (6) summary

cd11287
Location:634 → 754

Sec23_C; C-terminal Actin depolymerization factor-homology domain of Sec23

PLN00162
Location:12 → 787

PLN00162; transport protein sec23; Provisional

cd01478
Location:126 → 388

Sec23-like; Sec23-like: Protein and membrane traffic in eukaryotes is mediated by at least in part by the budding and fusion of intracellular transport vesicles that selectively carry cargo proteins and lipids from donor to acceptor organelles. The two main classes ...

pfam04810
Location:58 → 97

zf-Sec23_Sec24; Sec23/Sec24 zinc finger

pfam04815
Location:522 → 639

Sec23_helical; Sec23/Sec24 helical domain

pfam08033
Location:401 → 504

Sec23_BS; Sec23/Sec24 beta-sandwich domain
XM_011536355.4 → XP_011534657.1 protein transport protein Sec23A isoform X2

UniProtKB/TrEMBL

F5H365

Conserved Domains (6) summary

cd11287
Location:634 → 754

Sec23_C; C-terminal Actin depolymerization factor-homology domain of Sec23

PLN00162
Location:12 → 762

PLN00162; transport protein sec23; Provisional

cd01478
Location:126 → 388

Sec23-like; Sec23-like: Protein and membrane traffic in eukaryotes is mediated by at least in part by the budding and fusion of intracellular transport vesicles that selectively carry cargo proteins and lipids from donor to acceptor organelles. The two main classes ...

pfam04810
Location:58 → 97

zf-Sec23_Sec24; Sec23/Sec24 zinc finger

pfam04815
Location:522 → 639

Sec23_helical; Sec23/Sec24 helical domain

pfam08033
Location:401 → 504

Sec23_BS; Sec23/Sec24 beta-sandwich domain
XM_017020928.3 → XP_016876417.1 protein transport protein Sec23A isoform X3

UniProtKB/TrEMBL

F5H365

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

33220592..33291912 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054375271.1 → XP_054231246.1 protein transport protein Sec23A isoform X1

UniProtKB/TrEMBL

F5H365
XM_054375272.1 → XP_054231247.1 protein transport protein Sec23A isoform X2

UniProtKB/TrEMBL

F5H365
XM_054375273.1 → XP_054231248.1 protein transport protein Sec23A isoform X3

UniProtKB/TrEMBL

F5H365