Sec23a SEC23 homolog A, COPII coat complex component [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sec23aprovided by MGI
Official Full Name: SEC23 homolog A, COPII coat complex componentprovided by MGI
Primary source: MGI:MGI:1349635
See related: Ensembl:ENSMUSG00000020986 AllianceGenome:MGI:1349635
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Msec23; Sec23r
Summary: Predicted to enable GTPase activator activity and zinc ion binding activity. Involved in protein localization to plasma membrane. Located in COPII-coated ER to Golgi transport vesicle; Golgi membrane; and perinuclear region of cytoplasm. Is expressed in central nervous system; craniocervical region bone; retina; and thoracic segment skeleton. Human ortholog(s) of this gene implicated in craniolenticulosutural dysplasia. Orthologous to human SEC23A (SEC23 homolog A, COPII coat complex component). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta adult (RPKM 26.3), limb E14.5 (RPKM 22.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C1; 12 25.97 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (59005170..59058803, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (58958384..59012017, complement)

Chromosome 12 - NC_000078.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SEC23A Inhibit Melanoma Metastatic through Secretory PF4 Cooperation with SPARC to Inhibit MAPK Signaling Pathway.
Title: SEC23A Inhibit Melanoma Metastatic through Secretory PF4 Cooperation with SPARC to Inhibit MAPK Signaling Pathway.
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.
This study also validated the interaction between HAP1 and Sec23A using co-immunoprecipitation experiments with endogenous proteins. This manuscript also reports on the high confidence interacting partners of HAP1 identified by the non-biased approach used in this study, which interestingly, consists of predominantly trafficking-related proteins
Title: Huntingtin-associated protein-1 (HAP1) regulates endocytosis and interacts with multiple trafficking-related proteins.
results suggest that mammalian SEC23A and SEC23B transport overlapping yet distinct spectra of cargo in vivo
Title: Neural tube opening and abnormal extraembryonic membrane development in SEC23A deficient mice.
Sec23a contains consensus TFII-I binding sites in the proximal promoters; the chromatin immunoprecipitation analysis showed that TFII-I transcription factors are recruited to these sites in vivo in Williams-Beuren syndrome.
Title: Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development.
Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis.
Title: Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Sec23a (e-PCR), detects polymorphism
- UniSTS:144387

BB095043 (e-PCR)
- UniSTS:208807

NoName (e-PCR)
- UniSTS:224704

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in COPII-coated vesicle budding	IEA Inferred from Electronic Annotation more info
involved_in COPII-coated vesicle cargo loading	IBA Inferred from Biological aspect of Ancestor more info
involved_in COPII-coated vesicle cargo loading	ISO Inferred from Sequence Orthology more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intracellular protein transport	TAS Traceable Author Statement more info	PubMed
involved_in protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within vesicle-mediated transport	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	ISO Inferred from Sequence Orthology more info
located_in COPII-coated ER to Golgi transport vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in ER to Golgi transport vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum exit site	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum exit site	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein transport protein Sec23A

Names: SEC23-related protein A

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_001361956.1 → NP_001348885.1 protein transport protein Sec23A

Status: VALIDATED

Source sequence(s)

AC153654, AY082671, BY760439, BY778724, BY789138

Consensus CDS

CCDS25931.1

UniProtKB/Swiss-Prot

Q01405, Q8JZL4

UniProtKB/TrEMBL

Q8C1E4

Conserved Domains (1) summary

PLN00162
Location:12 → 763

PLN00162; transport protein sec23; Provisional
NM_009147.2 → NP_033173.2 protein transport protein Sec23A

See identical proteins and their annotated locations for NP_033173.2

Status: VALIDATED

Source sequence(s)

AK028152, BC034610, BY760439

Consensus CDS

CCDS25931.1

UniProtKB/Swiss-Prot

Q01405, Q8JZL4

UniProtKB/TrEMBL

Q8C1E4

Related

ENSMUSP00000021375.6, ENSMUST00000021375.12

Conserved Domains (1) summary

PLN00162
Location:12 → 763

PLN00162; transport protein sec23; Provisional