SEC24A SEC24 homolog A, COPII coat complex component [Homo sapiens (human)] - Gene

Summary

Official Symbol: SEC24Aprovided by HGNC
Official Full Name: SEC24 homolog A, COPII coat complex componentprovided by HGNC
Primary source: HGNC:HGNC:10703
See related: Ensembl:ENSG00000113615 MIM:607183; AllianceGenome:HGNC:10703
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
Summary: The protein encoded by this gene belongs to a family of proteins that are homologous to yeast Sec24. This protein is a component of coat protein II (COPII)-coated vesicles that mediate protein transport from the endoplasmic reticulum. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Expression: Ubiquitous expression in small intestine (RPKM 10.1), duodenum (RPKM 10.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.1

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (134648382..134727909)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (135172809..135253535)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (133984475..134063599)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Selective inhibition of protein secretion by abrogating receptor-coat interactions during ER export.
Title: Selective inhibition of protein secretion by abrogating receptor-coat interactions during ER export.
CircRNA circ_SEC24A upregulates DNMT3A expression by sponging miR-26b-5p to aggravate osteoarthritis progression.
Title: CircRNA circ_SEC24A upregulates DNMT3A expression by sponging miR-26b-5p to aggravate osteoarthritis progression.
The role of the C-terminal domain of PCSK9 and SEC24 isoforms in PCSK9 secretion.
Title: The role of the C-terminal domain of PCSK9 and SEC24 isoforms in PCSK9 secretion.
the association between Kv1.3 and the COPII cargo adaptor subunit isoform Sec24a
Title: Kv1.3 contains an alternative C-terminal ER exit motif and is recruited into COPII vesicles by Sec24a.
CstA, a secreted Brucella protein specifically interacts with human Sec24A.
Title: A Brucella abortus cstA mutant is defective for association with endoplasmic reticulum exit sites and displays altered trafficking in HeLa cells.
Sec24 isoforms expand the repertoire of cargo for signal-mediated ER export, but are in part functionally redundant.
Title: Role of Sec24 isoforms in selective export of membrane proteins from the endoplasmic reticulum.

Submit: New GeneRIF Correction

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

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

A009F27 (e-PCR)
- UniSTS:40736

STS-H02274 (e-PCR)
- UniSTS:816

RH36020 (e-PCR)
- UniSTS:27483

G32508 (e-PCR)
- UniSTS:117093

D5S458 (e-PCR)
- UniSTS:59242

D5S458 (e-PCR)
- UniSTS:16774

RH79864 (e-PCR)
- UniSTS:85437

RH45972 (e-PCR)
- UniSTS:46804

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SNARE binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info
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 cholesterol homeostasis	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein secretion	IEA Inferred from Electronic Annotation more info
involved_in regulation of cholesterol 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	IDA Inferred from Direct Assay more info	PubMed
located_in ER to Golgi transport vesicle membrane	TAS Traceable Author Statement more info
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 membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: protein transport protein Sec24A

Names: SEC24 family, member A; SEC24 related gene family, member A; SEC24-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_001252231.2 → NP_001239160.1 protein transport protein Sec24A isoform 2

See identical proteins and their annotated locations for NP_001239160.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks several exons from the 3' end, and contains an alternate 3' terminal exon compared to variant 1. This results in a shorter isoform (2) with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AK304060, BC019341

Consensus CDS

CCDS58967.1

UniProtKB/Swiss-Prot

O95486

UniProtKB/TrEMBL

B4E205

Related

ENSP00000321749.4, ENST00000322887.8

Conserved Domains (3) summary

pfam04810
Location:428 → 464

zf-Sec23_Sec24; Sec23/Sec24 zinc finger

pfam15834
Location:92 → 143

THEG4; Testis highly expressed protein 4

cl00057
Location:501 → 595

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
NM_021982.3 → NP_068817.1 protein transport protein Sec24A isoform 1

See identical proteins and their annotated locations for NP_068817.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AJ131244, AK304060, BC019341, BM127845, CD677660

Consensus CDS

CCDS43363.1

UniProtKB/Swiss-Prot

A8MVW3, O95486, Q8WUV2, Q96GP7

Related

ENSP00000381823.2, ENST00000398844.7

Conserved Domains (7) summary

COG5028
Location:237 → 1093

COG5028; Vesicle coat complex COPII, subunit SEC24/subunit SFB2/subunit SFB3 [Intracellular trafficking and secretion]

cd01479
Location:501 → 743

Sec24-like; Sec24-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 ...

pfam00626
Location:964 → 1039

Gelsolin; Gelsolin repeat

pfam04810
Location:428 → 464

zf-Sec23_Sec24; Sec23/Sec24 zinc finger

pfam04815
Location:843 → 938

Sec23_helical; Sec23/Sec24 helical domain

pfam08033
Location:744 → 828

Sec23_BS; Sec23/Sec24 beta-sandwich domain

pfam15834
Location:92 → 158

THEG4; Testis highly expressed protein 4

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

134648382..134727909

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017008961.3 → XP_016864450.1 protein transport protein Sec24A isoform X1
XM_047416648.1 → XP_047272604.1 protein transport protein Sec24A isoform X3
XM_006714523.3 → XP_006714586.1 protein transport protein Sec24A isoform X2

Conserved Domains (7) summary

COG5028
Location:172 → 1035

COG5028; Vesicle coat complex COPII, subunit SEC24/subunit SFB2/subunit SFB3 [Intracellular trafficking and secretion]

cd01479
Location:443 → 685

Sec24-like; Sec24-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 ...

pfam00626
Location:906 → 981

Gelsolin; Gelsolin repeat

pfam04810
Location:370 → 406

zf-Sec23_Sec24; Sec23/Sec24 zinc finger

pfam04815
Location:785 → 880

Sec23_helical; Sec23/Sec24 helical domain

pfam08033
Location:686 → 770

Sec23_BS; Sec23/Sec24 beta-sandwich domain

pfam15834
Location:92 → 158

THEG4; Testis highly expressed protein 4
XM_047416649.1 → XP_047272605.1 protein transport protein Sec24A isoform X4
XM_017008963.3 → XP_016864452.1 protein transport protein Sec24A isoform X5