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Aliases for SEC23A Gene

Aliases for SEC23A Gene

  • Sec23 Homolog A, Coat Complex II Component 2 3
  • Sec23 Homolog A, COPII Coat Complex Component 2 3 5
  • SEC23-Related Protein A 3 4
  • Sec23 (S. Cerevisiae) Homolog A 2
  • Sec23 Homolog A (S. Cerevisiae) 2
  • CLSD 3

External Ids for SEC23A Gene

Previous GeneCards Identifiers for SEC23A Gene

  • GC14M036881
  • GC14M033358
  • GC14M037491
  • GC14M038570
  • GC14M039501
  • GC14M019615

Summaries for SEC23A Gene

Entrez Gene Summary for SEC23A Gene

  • 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]

GeneCards Summary for SEC23A Gene

SEC23A (Sec23 Homolog A, Coat Complex II Component) is a Protein Coding gene. Diseases associated with SEC23A include craniolenticulosutural dysplasia and congenital dyserythropoietic anemia. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. An important paralog of this gene is SEC23B.

UniProtKB/Swiss-Prot for SEC23A Gene

  • Component of the COPII coat, that covers ER-derived vesicles involved in transport from the endoplasmic reticulum to the Golgi apparatus. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the Golgi complex.

Gene Wiki entry for SEC23A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEC23A Gene

Genomics for SEC23A Gene

Regulatory Elements for SEC23A Gene

Genomic Location for SEC23A Gene

Chromosome:
14
Start:
39,031,919 bp from pter
End:
39,109,646 bp from pter
Size:
77,728 bases
Orientation:
Minus strand

Genomic View for SEC23A Gene

Genes around SEC23A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEC23A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEC23A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEC23A Gene

Proteins for SEC23A Gene

  • Protein details for SEC23A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15436-SC23A_HUMAN
    Recommended name:
    Protein transport protein Sec23A
    Protein Accession:
    Q15436
    Secondary Accessions:
    • B2R5P4
    • B3KXI2
    • Q8NE16

    Protein attributes for SEC23A Gene

    Size:
    765 amino acids
    Molecular mass:
    86161 Da
    Quaternary structure:
    • COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and Sar1. Interacts with SEC23IP. Interacts with HTR4 (By similarity). Interacts with SLC6A4 (By similarity). Interacts with SEC16A.

    Three dimensional structures from OCA and Proteopedia for SEC23A Gene

    Alternative splice isoforms for SEC23A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEC23A Gene

Proteomics data for SEC23A Gene at MOPED

Post-translational modifications for SEC23A Gene

  • Ubiquitination at Lys 46 and Lys 669
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SEC23A (SEC23A)

No data available for DME Specific Peptides for SEC23A Gene

Domains & Families for SEC23A Gene

Suggested Antigen Peptide Sequences for SEC23A Gene

Graphical View of Domain Structure for InterPro Entry

Q15436

UniProtKB/Swiss-Prot:

SC23A_HUMAN :
  • Belongs to the SEC23/SEC24 family. SEC23 subfamily.
Family:
  • Belongs to the SEC23/SEC24 family. SEC23 subfamily.
genes like me logo Genes that share domains with SEC23A: view

No data available for Gene Families for SEC23A Gene

Function for SEC23A Gene

Molecular function for SEC23A Gene

UniProtKB/Swiss-Prot Function:
Component of the COPII coat, that covers ER-derived vesicles involved in transport from the endoplasmic reticulum to the Golgi apparatus. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the Golgi complex.
genes like me logo Genes that share phenotypes with SEC23A: view

Human Phenotype Ontology for SEC23A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SEC23A Gene

MGI Knock Outs for SEC23A:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for SEC23A Gene

Localization for SEC23A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEC23A Gene

Smooth endoplasmic reticulum membrane; Peripheral membrane protein. Golgi apparatus membrane; Peripheral membrane protein. Note=In the ribosome-free transitional face of the ER and associated vesicles.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SEC23A Gene COMPARTMENTS Subcellular localization image for SEC23A gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
golgi apparatus 4
nucleus 3
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SEC23A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0030127 COPII vesicle coat IEA --
GO:0030134 ER to Golgi transport vesicle IEA --
GO:0030868 smooth endoplasmic reticulum membrane IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with SEC23A: view

Pathways & Interactions for SEC23A Gene

genes like me logo Genes that share pathways with SEC23A: view

Gene Ontology (GO) - Biological Process for SEC23A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0048208 COPII vesicle coating TAS --
genes like me logo Genes that share ontologies with SEC23A: view

No data available for SIGNOR curated interactions for SEC23A Gene

Drugs & Compounds for SEC23A Gene

No Compound Related Data Available

Transcripts for SEC23A Gene

Unigene Clusters for SEC23A Gene

Sec23 homolog A (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEC23A Gene

No ASD Table

Relevant External Links for SEC23A Gene

GeneLoc Exon Structure for
SEC23A
ECgene alternative splicing isoforms for
SEC23A

Expression for SEC23A Gene

mRNA expression in normal human tissues for SEC23A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SEC23A Gene

This gene is overexpressed in Lymph node (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SEC23A Gene



SOURCE GeneReport for Unigene cluster for SEC23A Gene Hs.272927

genes like me logo Genes that share expression patterns with SEC23A: view

Protein tissue co-expression partners for SEC23A Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SEC23A Gene

Orthologs for SEC23A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SEC23A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEC23A 36
  • 100 (a)
OneToOne
SEC23A 35
  • 99.65 (n)
  • 99.87 (a)
cow
(Bos Taurus)
Mammalia SEC23A 36
  • 98 (a)
OneToOne
SEC23A 35
  • 94.33 (n)
  • 99.47 (a)
dog
(Canis familiaris)
Mammalia SEC23A 35
  • 95.03 (n)
  • 99.48 (a)
SEC23A 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sec23a 36
  • 99 (a)
OneToOne
Sec23a 16
Sec23a 35
  • 91.24 (n)
  • 98.95 (a)
oppossum
(Monodelphis domestica)
Mammalia SEC23A 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 97 (a)
OneToMany
-- 36
  • 97 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Sec23a 35
  • 91.29 (n)
  • 98.95 (a)
chicken
(Gallus gallus)
Aves SEC23A 35
  • 83.36 (n)
  • 96.21 (a)
SEC23A 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEC23A 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sec23a 35
  • 79.08 (n)
  • 93.33 (a)
zebrafish
(Danio rerio)
Actinopterygii sec23a 36
  • 91 (a)
OneToOne
sec23a 35
  • 76.3 (n)
  • 90.98 (a)
wufc10f08 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001759 35
  • 63.13 (n)
  • 74.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta sec23 35
  • 65.04 (n)
  • 75.63 (a)
sec23 37
  • 70 (a)
sec23 36
  • 73 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sec-23 35
  • 59.49 (n)
  • 60.76 (a)
sec-23 36
  • 56 (a)
OneToMany
sec-23 37
  • 62 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL272W 35
  • 53.44 (n)
  • 52.41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC23 35
  • 53.66 (n)
  • 51.13 (a)
SEC23 36
  • 50 (a)
OneToMany
SEC23 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E04885g 35
  • 54.51 (n)
  • 51.74 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G21630 35
  • 53.6 (n)
  • 47.73 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.12907 35
corn
(Zea mays)
Liliopsida Zm.7720 35
rice
(Oryza sativa)
Liliopsida Os08g0474700 35
  • 53.46 (n)
  • 47.74 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01318 35
  • 56.66 (n)
  • 58.68 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec231 35
  • 58.14 (n)
  • 57.7 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1036 36
  • 74 (a)
OneToMany
Species with no ortholog for SEC23A:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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 SEC23A Gene

ENSEMBL:
Gene Tree for SEC23A (if available)
TreeFam:
Gene Tree for SEC23A (if available)

Paralogs for SEC23A Gene

Paralogs for SEC23A Gene

genes like me logo Genes that share paralogs with SEC23A: view

Variants for SEC23A Gene

Sequence variations from dbSNP and Humsavar for SEC23A Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs8018720 - 39,086,981(+) AGTAA(C/G/T)TGGTA reference, missense
VAR_031030 Craniolenticulosutural dysplasia (CLSD)
rs1950508 -- 39,081,967(-) ctttt(A/T)gcctt intron-variant
rs1950509 -- 39,080,607(-) CCAAC(A/G)TGGTG intron-variant
rs1884383 -- 39,078,422(-) TTTGG(G/T)CATCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SEC23A Gene

Variant ID Type Subtype PubMed ID
esv259479 OTHER Complex 20981092
esv259821 OTHER Complex 20981092
nsv85298 CNV Insertion 16902084
esv8908 CNV Gain 19470904
nsv85182 CNV Insertion 16902084
esv273969 CNV Insertion 20981092
esv268040 CNV Insertion 20981092
esv997844 CNV Insertion 20482838
nsv85230 CNV Loss 16902084
esv1683314 CNV Deletion 17803354

Variation tolerance for SEC23A Gene

Residual Variation Intolerance Score: 8.48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.21; 24.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SEC23A Gene

HapMap Linkage Disequilibrium report
SEC23A
Human Gene Mutation Database (HGMD)
SEC23A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEC23A Gene

Disorders for SEC23A Gene

MalaCards: The human disease database

(4) MalaCards diseases for SEC23A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
craniolenticulosutural dysplasia
  • boyadjiev-jabs syndrome
congenital dyserythropoietic anemia
  • congenital dyshaematopoietic anaemia
cole-carpenter syndrome
  • cole carpenter syndrome
chylomicron retention disease
  • anderson disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SC23A_HUMAN
  • Craniolenticulosutural dysplasia (CLSD) [MIM:607812]: Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects. {ECO:0000269 PubMed:16980979}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SEC23A

Genetic Association Database (GAD)
SEC23A
Human Genome Epidemiology (HuGE) Navigator
SEC23A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEC23A
genes like me logo Genes that share disorders with SEC23A: view

No data available for Genatlas for SEC23A Gene

Publications for SEC23A Gene

  1. Cloning and functional characterization of mammalian homologues of the COPII component Sec23. (PMID: 8898360) Paccaud J.-P. … Orci L. (Mol. Biol. Cell 1996) 2 3 4 67
  2. A family of mammalian proteins homologous to yeast Sec24p. (PMID: 10329445) Tang B.L. … Hong W. (Biochem. Biophys. Res. Commun. 1999) 2 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. Characterizing WW domain interactions of tumor suppressor WWOX reveals its association with multiprotein networks. (PMID: 24550385) Abu-Odeh M. … Aqeilan R.I. (J. Biol. Chem. 2014) 3

Products for SEC23A Gene

Sources for SEC23A Gene

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