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SEC23A Gene

protein-coding   GIFtS: 66
GCID: GC14M039501

Sec23 Homolog A (S. Cerevisiae)

(Previous name: Sec23 (S. cerevisiae) homolog A)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sec23 Homolog A (S. Cerevisiae)1 2
SEC23-Related Protein A2 3
CLSD2 5
Sec23 (S. Cerevisiae) Homolog A1
Protein Transport Protein Sec23A2

External Ids:    HGNC: 107011   Entrez Gene: 104842   Ensembl: ENSG000001009347   OMIM: 6105115   UniProtKB: Q154363   

Export aliases for SEC23A gene to outside databases

Previous GC identifers: GC14M036881 GC14M033358 GC14M037491 GC14M038570 GC14M019615


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (S. cerevisiae)) is a protein-coding gene. Diseases associated with SEC23A include craniolenticulosutural dysplasia, and congenital dyserythropoietic anemia. An important paralog of this gene is SEC23B.

UniProtKB/Swiss-Prot: SC23A_HUMAN, Q15436
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

Gene Wiki entry for SEC23A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SEC23A gene promoter:
         AhR   AML1a   CUTL1   Arnt   RORalpha2   FOXJ2 (long isoform)   IRF-7A   ZIC2/Zic2   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSEC23A promoter sequence
   Search Chromatin IP Primers for SEC23A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEC23A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q21.1   Ensembl cytogenetic band:  14q21.1   HGNC cytogenetic band: 14q21.1

SEC23A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEC23A gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M039501:  view genomic region     (about GC identifiers)

Start:
39,501,123 bp from pter      End:
39,578,850 bp from pter
Size:
77,728 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SC23A_HUMAN, Q15436 (See protein sequence)
Recommended Name: Protein transport protein Sec23A  
Size: 765 amino acids; 86161 Da
Subunit: 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
Selected PDB 3D structures from and Proteopedia for SEC23A (see all 8):
2NUP (3D)        2NUT (3D)        2YRC (3D)        2YRD (3D)        3EFO (3D)        3EG9 (3D)    
Secondary accessions: B2R5P4 Q8NE16

Explore the universe of human proteins at neXtProt for SEC23A: NX_Q15436

Explore proteomics data for SEC23A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys46, Lys669
  • Modification sites at PhosphoSitePlus

  • See SEC23A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006355.2  
    ENSEMBL proteins: 
     ENSP00000444193   ENSP00000306881   ENSP00000445393   ENSP00000450819   ENSP00000451230  
     ENSP00000447489   ENSP00000451999   ENSP00000452575   ENSP00000451924   ENSP00000452390  
     ENSP00000437715  
    Reactome Protein details: Q15436

    SEC23A Human Recombinant Protein Products:

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    Novus Biologicals SEC23A Protein
    Novus Biologicals SEC23A Lysate
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    Cloud-Clone Corp. Proteins for SEC23A

    SEC23A Antibody Products:

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    Novus Biologicals SEC23A Antibodies
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    LSBio Antibodies in human, mouse, rat for SEC23A

    SEC23A Assay Products:

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    Cloud-Clone Corp. ELISAs for SEC23A
    Cloud-Clone Corp. CLIAs for SEC23A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR006900 Sec23/24_helical_dom
     IPR012990 Sec23_24_beta_S
     IPR006896 Sec23/24_trunk_dom
     IPR006895 Znf_Sec23_Sec24
     IPR007123 Gelsolin_dom

    Graphical View of Domain Structure for InterPro Entry Q15436

    ProtoNet protein and cluster: Q15436

    4 Blocks protein domains:
    IPB006895 Sec23/Sec24 zinc finger
    IPB006896 Sec23/Sec24 trunk domain
    IPB006900 Sec23/Sec24 helical domain
    IPB007123 Gelsolin region


    UniProtKB/Swiss-Prot: SC23A_HUMAN, Q15436
    Similarity: Belongs to the SEC23/SEC24 family. SEC23 subfamily


    SEC23A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SC23A_HUMAN, Q15436
    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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10075675
    GO:0008270zinc ion binding IEA--
         
    SEC23A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SEC23A:
     Decreased Wnt reporter activit 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sec23a):
     mortality/aging  skeleton 

    SEC23A for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SEC23A
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SEC23A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SEC23A

    miRNA
    Products:
        
    miRTarBase miRNAs that target SEC23A:
    hsa-mir-193b-3p (MIRT016564), hsa-mir-30a-5p (MIRT005152), hsa-mir-375 (MIRT020062), hsa-mir-93-5p (MIRT028115)

    Block miRNA regulation of human, mouse, rat SEC23A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEC23A (see all 15):
    hsa-miR-124* hsa-miR-30c hsa-miR-1206 hsa-miR-187* hsa-miR-429 hsa-miR-1283 hsa-miR-30d hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidSEC23A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SEC23A
    Predesigned siRNA for gene silencing in human, mouse, rat SEC23A

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SEC23A

    Clone
    Products:
         
    OriGene clones in human, mouse for SEC23A (see all 6)
    OriGene ORF clones in mouse, rat for SEC23A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SEC23A (NM_006364)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEC23A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEC23A

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SEC23A
    Browse ESI BIO Cell Lines and PureStem Progenitors for SEC23A 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC23A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SC23A_HUMAN, Q15436: Smooth endoplasmic reticulum membrane; Peripheral membrane protein. Golgi apparatus
    membrane; Peripheral membrane protein (Potential). Note=In the ribosome-free transitional face of the ER and
    associated vesicles
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    cytosol4
    nucleus2
    extracellular1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005783endoplasmic reticulum TAS8898360
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005829cytosol TAS--
    GO:0012507ER to Golgi transport vesicle membrane TAS--

    SEC23A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SEC23A About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1ER to Golgi Transport
    ER to Golgi Transport0.36
    Antigen Presentation- Folding, assembly and peptide loading of class I MHC0.32
    Delta508 CFTR traffic ER to Golgi in CF0.36
    COPII (Coat Protein 2) Mediated Vesicle Transport0.00
    Normal wtCFTR traffic ER to Golgi 0.36
    2Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    wtCFTR and delta508 CFTR traffic Generic schema norm and CF 0.37
    Transport Clathrin coated vesicle cycle0.66
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    SREBP signalling0.31
    4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Transport to the Golgi and subsequent modification0.40
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    5Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SEC23A
        SREBP Proteolysis

    1 Cell Signaling Technology (CST) Pathway for SEC23A
        Cytoskeletal Signaling

    4 GeneGo (Thomson Reuters) Pathways for SEC23A
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Delta508-CFTR traffic / ER-to-Golgi in CF
    Normal wtCFTR traffic / ER-to-Golgi
    Transport Clathrin-coated vesicle cycle

    1 BioSystems Pathway for SEC23A
        SREBP signalling

    4 Reactome Pathways for SEC23A
        Antigen Presentation: Folding, assembly and peptide loading of class I MHC
    COPII (Coat Protein 2) Mediated Vesicle Transport
    Regulation of cholesterol biosynthesis by SREBP (SREBF)
    MHC class II antigen presentation


    1 Kegg Pathway  (Kegg details for SEC23A):
        Protein processing in endoplasmic reticulum


    SEC23A for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SEC23A
    Interactions:

        Search GeneGlobe Interaction Network for SEC23A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SEC23A (Q154361, 2, 3 ENSP000003068814) via UniProtKB, MINT, STRING, and/or I2D (see all 807)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0006886intracellular protein transport IEA--
    GO:0006888ER to Golgi vesicle-mediated transport TAS--
    GO:0016192vesicle-mediated transport TAS8898360
    GO:0018279protein N-linked glycosylation via asparagine TAS--

    SEC23A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SEC23A (SC23A)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SEC23A gene: 
    NM_006364.2  

    Unigene Cluster for SEC23A:

    Sec23 homolog A (S. cerevisiae)
    Hs.272927  [show with all ESTs]
    Unigene Representative Sequence: BC036649
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000554615 ENST00000537403 ENST00000307712(uc001wup.1 uc010tqa.1 uc010tqb.1)
    ENST00000545328 ENST00000555363 ENST00000553925 ENST00000555682 ENST00000555017
    ENST00000556092 ENST00000548032 ENST00000555425 ENST00000557280 ENST00000553970
    ENST00000557437 ENST00000536508(uc010tqc.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SEC23A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEC23A (see all 15):
    hsa-miR-124* hsa-miR-30c hsa-miR-1206 hsa-miR-187* hsa-miR-429 hsa-miR-1283 hsa-miR-30d hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidSEC23A 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene clones in human, mouse for SEC23A (see all 6)
    OriGene ORF clones in mouse, rat for SEC23A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SEC23A (NM_006364)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEC23A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEC23A
    Primer
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    OriGene qPCR primer pairs and template standards for SEC23A
    OriGene qSTAR qPCR primer pairs in human, mouse for SEC23A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SEC23A
      QuantiTect SYBR Green Assays in human, mouse, rat SEC23A
      QuantiFast Probe-based Assays in human, mouse, rat SEC23A

    Additional mRNA sequence: 

    AK293944.1 AK299862.1 AK303485.1 AK312259.1 BC036649.1 BX537566.1 X97064.1 

    15 DOTS entries:

    DT.456340  DT.102839419  DT.101982790  DT.92436965  DT.120748589  DT.436543  DT.120748596  DT.440437 
    DT.92436964  DT.95274732  DT.95274734  DT.95274737  DT.95274740  DT.99963634  DT.102825814 

    Selected AceView cDNA sequences (see all 230):

    BM759233 CB989103 AI246994 BQ029623 AI357609 CA748926 BM765260 CA424877 
    CR615861 AK127355 BM667937 AU123179 CA413771 AI364817 AA410260 BQ109149 
    CK429845 AL135645 AI357559 F12541 AL044780 AA251728 AW339029 AA469027 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SEC23A expression in normal human tissues (normalized intensities)      SEC23A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACACAATCA
    SEC23A Expression
    About this image


    SEC23A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
     
     Fibroblasts (Uncategorized)
    SEC23A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEC23A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.272927
        Custom PCR Arrays for SEC23A
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SEC23A
    OriGene qSTAR qPCR primer pairs in human, mouse for SEC23A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SEC23A
    QuantiTect SYBR Green Assays in human, mouse, rat SEC23A
    QuantiFast Probe-based Assays in human, mouse, rat SEC23A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC23A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SEC23A gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sec23a1 , 5 SEC23A (S. cerevisiae)1, 5 91.24(n)1
    98.95(a)1
      12 (25.97 cM)5
    203341  NM_009147.21  NP_033173.21 
     589583835 
    chicken
    (Gallus gallus)
    Aves SEC23A1 Sec23 homolog A (S. cerevisiae) 83.36(n)
    96.21(a)
      423335  XM_421250.4  XP_421250.1 
    lizard
    (Anolis carolinensis)
    Reptilia SEC23A6
    Sec23 homolog A (S. cerevisiae)
    87(a)
    1 ↔ 1
    1(24007826-24046760)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sec23a1 Sec23 homolog A 79.08(n)
    93.33(a)
      780116  NM_001079191.1  NP_001072659.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc10f082 Danio rerio cDNA clone MGC55534 IMAGE2642128, complete more 77.47(n)    BC052768.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sec231 , 3 ER to Golgi transport GTPase activator3
    sec231
    70(a)3
    65.04(n)1
    75.63(a)1
      406941  NM_001260003.11  NP_001246932.11 
    worm
    (Caenorhabditis elegans)
    Secernentea sec-231 , 3 sec-231 62(a)3
    59.49(n)1
    60.76(a)1
      V(20083371-20097668)3
    1803171  NM_075476.41  NP_507877.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEC23(YPR181C)4
    SEC231
    GTPase-activating protein, stimulates the GTPase activity more4
    SEC231
    53.66(n)1
    51.13(a)1
      16(899667-897361)4
    8563111, 4  NP_015507.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G216301 AT2G21630 53.6(n)
    47.73(a)
      816701  NM_127734.2  NP_179757.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g04747001 Os08g0474700 53.46(n)
    47.74(a)
      4345819  NM_001068565.1  NP_001062030.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SEC23A gene
    SEC23B2  
    1 SIMAP similar gene for SEC23A using alignment to 12 protein entries:     SC23A_HUMAN (see all proteins):
    SEC23B

    SEC23A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SEC23A (see all 1527)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0310304
    Craniolenticulosutural dysplasia (CLSD)4--see VAR_0310302 F L mis40--------
    rs346813991,2
    C--19651519(+) TTTTT-/T/TT  
            
    CAGAC
    1 -- int12NA 4
    rs111570441,2
    C,A,H--19669436(+) ATATAC/TACACA 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs590849901,2
    --20497858(+) TGGGAA/GGCTGA 1 -- ds50010--------
    rs1116212791,2
    --20497976(+) AACAAC/AAAAAA 1 -- ds50012Minor allele frequency- A:0.04CSA WA 120
    rs1808242351,2
    --20497979(+) AACAAA/CAAACT 1 -- ds50010--------
    rs1861089701,2
    --20498173(+) ATTATA/TTCTTA 1 -- ds50010--------
    rs1910496591,2
    --20498825(+) TTTGGA/TTTAGT 1 -- ut310--------
    rs1811248991,2
    C--20499059(+) TACCAC/TTATAA 1 -- ut310--------
    rs1857722151,2
    --20499134(+) GTGTAC/TACATA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SEC23A (39501123 - 39578850 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for SEC23A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1683314CNV Deletion17803354
    esv268040CNV Insertion20981092
    nsv85298CNV Insertion16902084
    nsv85182CNV Insertion16902084
    esv997844CNV Insertion20482838
    esv273969CNV Insertion20981092
    nsv85230CNV Loss16902084
    esv8908CNV Gain19470904
    esv259821OTHER Complex20981092
    esv259479OTHER Complex20981092

    Human Gene Mutation Database (HGMD): SEC23A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SEC23A
    DNA2.0 Custom Variant and Variant Library Synthesis for SEC23A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610511   
    OMIM disorders: 607812  
    UniProtKB/Swiss-Prot: SC23A_HUMAN, Q15436
  • Craniolenticulosutural dysplasia (CLSD) [MIM:607812]: Autosomal recessive syndrome characterized by
    late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 9 diseases for SEC23A:    About MalaCards
    craniolenticulosutural dysplasia    congenital dyserythropoietic anemia    williams-beuren syndrome    cataract
    prostate cancer    prostatitis    multiple myeloma    myeloma
    malaria

    1 disease from the University of Copenhagen DISEASES database for SEC23A:
    Congenital dyserythropoietic anemia

    SEC23A for disorders           About GeneDecksing

    Genetic Association Database (GAD): SEC23A
    Human Genome Epidemiology (HuGE) Navigator: SEC23A (2 documents)

    Export disorders for SEC23A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SEC23A gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with SEC23A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and functional characterization of mammalian homologues of the COPII component Sec23. (PubMed id 8898360)1, 2, 3 Paccaud J.-P.... Orci L. (Mol. Biol. Cell 1996)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Two mammalian Sec16 homologues have nonredundant functions in endoplasmic reticulum (ER) export and transitional ER organization. (PubMed id 17192411)1, 2 Bhattacharyya D. and Glick B.S. (Mol. Biol. Cell 2007)
    4. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. (PubMed id 16980979)1, 2 Boyadjiev S.A.... Eyaid W. (Nat. Genet. 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (Nature 2003)
    8. A family of mammalian proteins homologous to yeast Sec24p. (PubMed id 10329445)1, 3 Tang B.L.... Hong W. (Biochem. Biophys. Res. Commun. 1999)
    9. Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. (PubMed id 23453696)1 Russo R....Iolascon A. (amp 2013)
    10. Endoplasmic reticulum stress reduces COPII vesicle formation and modifies Sec23a cycling at ERESs. (PubMed id 23994533)1 Amodio G....Remondelli P. (FEBS Lett. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10484 HGNC: 10701 AceView: SEC23A Ensembl:ENSG00000100934 euGenes: HUgn10484
    ECgene: SEC23A Kegg: 10484 H-InvDB: SEC23A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SEC23A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SEC23A gene:
    Search GeneIP for patents involving SEC23A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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