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 g... See more...

Aliases for SEC24A Gene

Aliases for SEC24A Gene

  • SEC24 Homolog A, COPII Coat Complex Component 2 3 5
  • Protein Transport Protein Sec24A 3 4
  • SEC24-Related Protein A 3 4
  • SEC24 (S. Cerevisiae) Related Gene Family, Member A 2
  • SEC24 Family, Member A (S. Cerevisiae) 2
  • SEC24 Related Gene Family, Member A 3
  • SEC24 Family, Member A 3
  • SEC24 Family Member A 2
  • SEC24A 5

External Ids for SEC24A Gene

Previous GeneCards Identifiers for SEC24A Gene

  • GC05P133635
  • GC05P134498
  • GC05P134015
  • GC05P134055
  • GC05P134011
  • GC05P129170
  • GC05P134649

Summaries for SEC24A Gene

Entrez Gene Summary for SEC24A Gene

  • 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]

GeneCards Summary for SEC24A Gene

SEC24A (SEC24 Homolog A, COPII Coat Complex Component) is a Protein Coding gene. Diseases associated with SEC24A include Ceroid Lipofuscinosis, Neuronal, 8 and Craniolenticulosutural Dysplasia. Among its related pathways are Pathogenic Escherichia coli infection and Transport to the Golgi and subsequent modification. An important paralog of this gene is SEC24B.

UniProtKB/Swiss-Prot Summary for SEC24A Gene

  • Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (PubMed:20427317, PubMed:17499046, PubMed:18843296). Plays a central role in cargo selection within the COPII complex and together with SEC24B may have a different specificity compared to SEC24C and SEC24D. May package preferentially cargos with cytoplasmic DxE or LxxLE motifs and may also recognize conformational epitopes (PubMed:17499046, PubMed:18843296).

Additional gene information for SEC24A Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEC24A Gene

Genomics for SEC24A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEC24A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEC24A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEC24A

Top Transcription factor binding sites by QIAGEN in the SEC24A gene promoter:
  • AREB6
  • ATF6
  • Bach2
  • CREB
  • FOXL1
  • RFX1
  • TBP
  • USF-1
  • USF1

Genomic Locations for SEC24A Gene

Genomic Locations for SEC24A Gene
chr5:134,647,757-134,727,909
(GRCh38/hg38)
Size:
80,153 bases
Orientation:
Plus strand
chr5:133,984,479-134,063,601
(GRCh37/hg19)
Size:
79,123 bases
Orientation:
Plus strand

Genomic View for SEC24A Gene

Genes around SEC24A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEC24A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEC24A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEC24A Gene

Proteins for SEC24A Gene

  • Protein details for SEC24A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95486-SC24A_HUMAN
    Recommended name:
    Protein transport protein Sec24A
    Protein Accession:
    O95486
    Secondary Accessions:
    • A8MVW3
    • Q8WUV2
    • Q96GP7

    Protein attributes for SEC24A Gene

    Size:
    1093 amino acids
    Molecular mass:
    119749 Da
    Quaternary structure:
    • COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and Sar1 (PubMed:17499046). Interacts with TMED2 (PubMed:20427317). Interacts (as part of the Sec23/24 complex) with SEC22B; recruits SEC22B into COPII-coated vesicles for its transport from the endoplasmic reticulum to the Golgi (PubMed:17499046). Interacts with TMEM39A (PubMed:31806350). Interacts with SACM1L; this interaction is reduced in the absence of TMEM39A (PubMed:31806350).
    SequenceCaution:
    • Sequence=CAA10334.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SEC24A Gene

    Alternative splice isoforms for SEC24A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEC24A Gene

Post-translational modifications for SEC24A Gene

  • Ubiquitination at Lys650
  • Modification sites at PhosphoSitePlus

Other Protein References for SEC24A Gene

No data available for DME Specific Peptides for SEC24A Gene

Domains & Families for SEC24A Gene

Gene Families for SEC24A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SEC24A Gene

InterPro:
Blocks:
  • Sec23/Sec24 zinc finger
  • Sec23/Sec24 trunk domain
  • Sec23/Sec24 helical domain
  • Gelsolin region
ProtoNet:

Suggested Antigen Peptide Sequences for SEC24A Gene

GenScript: Design optimal peptide antigens:
  • SEC24-related protein A (SC24A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95486

UniProtKB/Swiss-Prot:

SC24A_HUMAN :
  • Belongs to the SEC23/SEC24 family. SEC24 subfamily.
Family:
  • Belongs to the SEC23/SEC24 family. SEC24 subfamily.
genes like me logo Genes that share domains with SEC24A: view

Function for SEC24A Gene

Molecular function for SEC24A Gene

UniProtKB/Swiss-Prot Function:
Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (PubMed:20427317, PubMed:17499046, PubMed:18843296). Plays a central role in cargo selection within the COPII complex and together with SEC24B may have a different specificity compared to SEC24C and SEC24D. May package preferentially cargos with cytoplasmic DxE or LxxLE motifs and may also recognize conformational epitopes (PubMed:17499046, PubMed:18843296).
GENATLAS Biochemistry:
SEC24 (S. cerevisiae) related gene family, member A

Phenotypes From GWAS Catalog for SEC24A Gene

Gene Ontology (GO) - Molecular Function for SEC24A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IBA 21873635
GO:0005515 protein binding IPI 17499046
GO:0008270 zinc ion binding IEA,IDA 18843296
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SEC24A: view
genes like me logo Genes that share phenotypes with SEC24A: view

Animal Models for SEC24A Gene

MGI Knock Outs for SEC24A:
  • Sec24a Sec24a<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for SEC24A Gene

miRTarBase miRNAs that target SEC24A

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC24A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEC24A Gene

Localization for SEC24A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEC24A Gene

Cytoplasmic vesicle, COPII-coated vesicle membrane. Peripheral membrane protein. Cytoplasmic side. Endoplasmic reticulum membrane. Peripheral membrane protein. Cytoplasmic side. Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEC24A gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 4
golgi apparatus 3
plasma membrane 2
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SEC24A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SEC24A: view

Pathways & Interactions for SEC24A Gene

genes like me logo Genes that share pathways with SEC24A: view

Pathways by source for SEC24A Gene

4 GeneGo (Thomson Reuters) pathways for SEC24A Gene
  • Delta508-CFTR traffic / ER-to-Golgi in CF
  • Normal wtCFTR traffic / ER-to-Golgi
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
1 Qiagen pathway for SEC24A Gene
  • SREBP Proteolysis
1 Cell Signaling Technology pathway for SEC24A Gene

Gene Ontology (GO) - Biological Process for SEC24A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0006886 intracellular protein transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport IEA,TAS --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with SEC24A: view

No data available for SIGNOR curated interactions for SEC24A Gene

Drugs & Compounds for SEC24A Gene

No Compound Related Data Available

Transcripts for SEC24A Gene

mRNA/cDNA for SEC24A Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC24A

Alternative Splicing Database (ASD) splice patterns (SP) for SEC24A Gene

No ASD Table

Relevant External Links for SEC24A Gene

GeneLoc Exon Structure for
SEC24A

Expression for SEC24A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEC24A Gene

Protein differential expression in normal tissues from HIPED for SEC24A Gene

This gene is overexpressed in Salivary gland (20.0) and Islet of Langerhans (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEC24A Gene



Protein tissue co-expression partners for SEC24A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEC24A

SOURCE GeneReport for Unigene cluster for SEC24A Gene:

Hs.595540

Evidence on tissue expression from TISSUES for SEC24A Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Eye(4.2)
  • Lung(2.7)
  • Kidney(2.4)
genes like me logo Genes that share expression patterns with SEC24A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEC24A Gene

Orthologs for SEC24A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SEC24A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SEC24A 30 31
  • 99.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SEC24A 30 31
  • 92.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SEC24A 30 31
  • 91.54 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sec24a 30 17 31
  • 88.1 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sec24a 30
  • 87.79 (n)
Oppossum
(Monodelphis domestica)
Mammalia SEC24A 31
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SEC24A 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SEC24A 30 31
  • 75.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SEC24A 31
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sec24a 30
  • 70.64 (n)
Str.6479 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7689 30
Zebrafish
(Danio rerio)
Actinopterygii LOC100000526 30
  • 65.63 (n)
sec24a 31
  • 59 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005263 30
  • 54.46 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta sec24 31
  • 40 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sec-24.2 31
  • 38 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SFB2 31
  • 31 (a)
ManyToMany
SEC24 31
  • 30 (a)
ManyToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ERMO2 30
  • 49.12 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0129500 30
  • 50.45 (n)
Os.8704 30
Corn
(Zea mays)
Liliopsida Zm.6026 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9300 31
  • 56 (a)
OneToMany
Species where no ortholog for SEC24A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SEC24A Gene

ENSEMBL:
Gene Tree for SEC24A (if available)
TreeFam:
Gene Tree for SEC24A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEC24A: view image

Paralogs for SEC24A Gene

Paralogs for SEC24A Gene

(3) SIMAP similar genes for SEC24A Gene using alignment to 2 proteins:

  • SC24A_HUMAN
  • H0Y9J6_HUMAN

Pseudogenes.org Pseudogenes for SEC24A Gene

genes like me logo Genes that share paralogs with SEC24A: view

Variants for SEC24A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEC24A Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs17851745 - p.Thr396Met
rs17851746 - p.Thr302Ile
rs7718102 - p.Ser261Gly

Additional dbSNP identifiers (rs#s) for SEC24A Gene

Structural Variations from Database of Genomic Variants (DGV) for SEC24A Gene

Variant ID Type Subtype PubMed ID
esv3566677 CNV deletion 23714750
esv3575882 CNV gain 25503493
esv3606851 CNV loss 21293372
nsv1114731 CNV deletion 24896259
nsv5012 CNV deletion 18451855
nsv509088 CNV insertion 20534489
nsv830491 CNV loss 17160897
nsv830493 CNV loss 17160897

Variation tolerance for SEC24A Gene

Residual Variation Intolerance Score: 10.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.40; 54.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEC24A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEC24A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEC24A Gene

Disorders for SEC24A Gene

MalaCards: The human disease database

(3) MalaCards diseases for SEC24A Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SEC24A

genes like me logo Genes that share disorders with SEC24A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEC24A Gene

Publications for SEC24A Gene

  1. Sec24 proteins and sorting at the endoplasmic reticulum. (PMID: 10075675) Pagano A … Paccaud JP (The Journal of biological chemistry 1999) 2 3 4
  2. The ER-Localized Transmembrane Protein TMEM39A/SUSR2 Regulates Autophagy by Controlling the Trafficking of the PtdIns(4)P Phosphatase SAC1. (PMID: 31806350) Miao G … Zhang H (Molecular cell 2020) 3 4
  3. Selective export of human GPI-anchored proteins from the endoplasmic reticulum. (PMID: 20427317) Bonnon C … Hauri HP (Journal of cell science 2010) 3 4
  4. Structural basis of cargo membrane protein discrimination by the human COPII coat machinery. (PMID: 18843296) Mancias JD … Goldberg J (The EMBO journal 2008) 3 4
  5. The transport signal on Sec22 for packaging into COPII-coated vesicles is a conformational epitope. (PMID: 17499046) Mancias JD … Goldberg J (Molecular cell 2007) 3 4

Products for SEC24A Gene

Sources for SEC24A Gene