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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SEC31A Gene

protein-coding   GIFtS: 57
GCID: GC04M083739

SEC31 homolog A (S. cerevisiae)

(Previous names: SEC31-like 1 (S. cerevisiae), Sec31 homolog A (S. cerevisiae)...)
(Previous symbol: SEC31L1)
 Explore 6 diseases affiliated with
SEC31A via our new
 Human Malady Compendium 
Biological research products
for SEC31A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
SEC31 Homolog A (S. Cerevisiae)1 2     SEC31-Like Protein 12 3
ABP1251 2 3     SEC31-Related Protein A2 3
ABP1301 2 3     SEC31-Like 1 (S. Cerevisiae)1
SEC31L11 2 3     HSPC3342
KIAA09051 3     Protein Transport Protein Sec31A2
Web1-Like Protein2 3     Yeast Sec31p Homolog2

External Ids:    HGNC: 170521   Entrez Gene: 228722   Ensembl: ENSG000001386747   OMIM: 6102575   UniProtKB: O949793   

Export aliases for SEC31A gene to outside databases

Previous GC identifers: GC04M083958 GC04M079479


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SEC31A:
The protein encoded by this gene is similar to yeast Sec31 protein. Yeast Sec31 protein is known to be a component of
the COPII protein complex which is responsible for vesicle budding from endoplasmic reticulum (ER). This protein was
found to colocalize with SEC13, one of the other components of COPII , in the subcellular structures corresponding to
the vesicle transport function. An immunodepletion experiment confirmed that this protein is required for ER-Golgi
transport. Alternative splicing results in multiple transcript variants encoding different isoforms. (provided by
RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SC31A_HUMAN, O94979
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 (By similarity)

Gene Wiki entry for SEC31A


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SEC31A gene promoter:
         CBF-C   AREB6   Max   MZF-1   PPAR-gamma1   CBF-A   CBF-B   PPAR-gamma2   c-Myc   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSEC31A promoter sequence
   Search SABiosciences Chromatin IP Primers for SEC31A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SEC31A


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

Entrez Gene cytogenetic band: 4q21.22   Ensembl cytogenetic band:  4q21.22   HGNC cytogenetic band: 4q21.3

SEC31A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEC31A gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M083739:  view genomic region     (about GC identifiers)

Start:
83,739,814 bp from pter      End:
83,822,319 bp from pter
Size:
82,506 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SC31A_HUMAN, O94979 (See protein sequence)
Recommended Name: Protein transport protein Sec31A  
Size: 1220 amino acids; 133015 Da
Subunit: COPII is composed of at least 5 proteins: the SEC23/24 complex, the SEC13/31 complex and SAR1. SEC13 and SEC31
make a 2:2 tetramer that forms the edge element of the COPII outer coat. The tetramer self-assembles in multiple
copies to form the complete polyhedral cage. Interacts (via WD 8) with SEC13 (By similarity). Interacts with PDCD6 in
a calcium-dependent manner. Interacts with KLHL12
Subcellular location: Cytoplasm (By similarity). Cytoplasmic vesicle, COPII-coated vesicle membrane; Peripheral
membrane protein; Cytoplasmic side. Endoplasmic reticulum membrane; Peripheral membrane protein (By similarity).
Note=Associates with membranes in a GTP-dependent manner (By similarity)
Sequence caution: Sequence=AAF28953.1; Type=Frameshift; Positions=857, 1079; Sequence=AAF29012.1; Type=Frameshift;
Positions=922, 946, 1029, 1080; Sequence=CAI45995.1; Type=Erroneous termination; Positions=221; Note=Translated as
Trp;
Secondary accessions: B4DIW6 B7ZKZ7 H7C2W3 Q17RR5 Q5H9P6 Q5XG74 Q659G7 Q6ZU90 Q7LCX9 Q86TJ0 Q8IZH4
Q9P048 Q9P0A6 Q9UM05 Q9UM06
Alternative splicing: 9 isoforms:  O94979-1   O94979-2   O94979-3   O94979-4   O94979-5   O94979-6   O94979-7   O94979-8   
O94979-9   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEC31A: NX_O94979

Post-translational modifications:

  • Monoubiquitinated by the BCR(KLHL12) E3 ubiquitin ligase complex, leading to regulate the size of COPII coats1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O94979

  • SEC31A Protein expression data from MOPED and PaxDb:    About this image 
    SEC31A Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001070674.1  NP_001070675.1  NP_001070676.1  NP_001177978.1  NP_055748.2  NP_057295.2  

    ENSEMBL proteins: 
     ENSP00000422371   ENSP00000337602   ENSP00000426886   ENSP00000378721   ENSP00000408027  
     ENSP00000426569   ENSP00000421633   ENSP00000421464   ENSP00000424635   ENSP00000347329  
     ENSP00000426943   ENSP00000264405   ENSP00000424451   ENSP00000425140   ENSP00000425999  
     ENSP00000426562   ENSP00000424336   ENSP00000422267   ENSP00000425056   ENSP00000421001  
     ENSP00000425555   ENSP00000426950   ENSP00000422797   ENSP00000422563   ENSP00000425095  
     ENSP00000425064   ENSP00000407944   ENSP00000400926   ENSP00000325087   ENSP00000309070  
    Reactome Protein details: O94979
    Human Recombinant Protein Products for SEC31A: 
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    Uscn Proteins for SEC31A

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005768endosome ----
    GO:0005783endoplasmic reticulum IDA17196169
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005829cytosol TAS--

    SEC31A for ontologies           About GeneDecksing



    SEC31A Antibody Products: 
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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SEC31A for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry O94979

    ProtoNet protein and cluster: O94979

    UniProtKB/Swiss-Prot: SC31A_HUMAN, O94979
    Similarity: Belongs to the WD repeat SEC31 family
    Similarity: Contains 8 WD repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SC31A_HUMAN, O94979
    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 (By similarity)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18256029
    GO:0048306calcium-dependent protein binding IPI16957052
         
    SEC31A for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/14 super-pathways (see all 14About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1COPII (Coat Protein 2) Mediated Vesicle Transport
    COPII (Coat Protein 2) Mediated Vesicle Transport1.00
    Normal wtCFTR traffic / ER-to-Golgi 0.36
    ER to Golgi Transport1.00
    Delta508-CFTR traffic / ER-to-Golgi in CF0.36
    2Clathrin-dependent protein traffic
    Clathrin-dependent protein traffic1.00
    wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)0.37
    Transport_Clathrin-coated vesicle cycle0.66
    3Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation1.00
    Metabolism of proteins0.15
    Post-translational protein modification0.44
    4Activation of Chaperone Genes by XBP1(S)
    Activation of Chaperone Genes by XBP1(S)1.00
    Unfolded Protein Response0.71
    Activation of Chaperones by IRE1alpha0.94
    5Immune System
    Immune System1.00
    Adaptive Immune System0.59

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for SEC31A
        Clathrin-dependent protein traffic


    1 Cell Signaling Technology (CST) Pathway for SEC31A
        Cytoskeletal Signaling

    4 GeneGo (Thomson Reuters) Pathways for SEC31A
        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 SEC31A 
        SREBP signalling

    5/16        Reactome Pathways for SEC31A (see all 16)
        Antigen Presentation: Folding, assembly and peptide loading of class I MHC
    Expression of Sec31A
    Membrane Trafficking
    COPII (Coat Protein 2) Mediated Vesicle Transport
    ER to Golgi Transport


    1         Kegg Pathway  (Kegg details for SEC31A):
        Protein processing in endoplasmic reticulum


    SEC31A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SEC31A

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

    5/134 Interacting proteins for SEC31A (O949791, 2, 3 ENSP000003473294) via UniProtKB, MINT, STRING, and/or I2D (see all 134)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PFDN1O609252, 3MINT-8266040 I2D: score=2 
    TNNT1P138052, 3MINT-8275039 I2D: score=2 
    PDCD6O753401, 3EBI-1767898,EBI-352915 I2D: score=1 
    SEC13P557353, ENSP000003121224I2D: score=9 STRING: ENSP00000312122
    SEC24BO954873, ENSP000002651754I2D: score=4 STRING: ENSP00000265175
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0006888ER to Golgi vesicle-mediated transport TAS--
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0015031protein transport IEA--
    GO:0016044cellular membrane organization TAS--

    SEC31A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SEC31A

    2 HMDB Compounds for SEC31A    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Search CenterWatch for drugs/clinical trials and news about SEC31A / SC31A 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SEC31A gene (6 alternative transcripts): 
    NM_001077206.2  NM_001077207.2  NM_001077208.2  NM_001191049.1  NM_014933.3  NM_016211.3  

    Unigene Cluster for SEC31A:

    SEC31 homolog A (S. cerevisiae)
    Hs.370024  [show with all ESTs]
    Unigene Representative Sequence: NM_014933
    18/43 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 43):
    ENST00000503937 ENST00000348405 ENST00000513858 ENST00000395310(uc003hnf.3 uc011ccn.2 uc011ccl.2 uc003hnl.3 uc003hng.3 uc011ccm.2 uc003hnh.3 uc003hni.3 uc003hnk.3)
    ENST00000443462 ENST00000509142 ENST00000505472 ENST00000500777 ENST00000508502
    ENST00000355196(uc003hnm.3) ENST00000515062 ENST00000264405(uc003hne.3)
    ENST00000505479 ENST00000505984 ENST00000511338 ENST00000514362 ENST00000515749
    ENST00000509691

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    Additional cDNA sequence: 

    AB018358.1 AB018359.1 AF139184.1 AF161393.1 AF161452.1 AK001014.1 AK225934.1 AK295810.1 
    AL049463.1 AY137583.1 BC031292.1 BC039834.1 BC047883.2 BC084583.1 BC117221.1 BC143489.1 
    BC143491.1 BC143492.2 CR933696.1 

    24/45 DOTS entries (see all 45):

    DT.95233055  DT.95179749  DT.95179771  DT.95302497  DT.95192148  DT.95179772  DT.100045598  DT.318707 
    DT.99983799  DT.95125557  DT.100883081  DT.95069249  DT.100883088  DT.101988033  DT.95179768  DT.100686311 
    DT.100883074  DT.100883076  DT.121263794  DT.40200796  DT.100883083  DT.121263755  DT.437578  DT.91768163 

    24/79 AceView cDNA sequences (see all 79):

    AA423899 AA232426 AA488663 CB528449 BF516091 BG390414 BE819473 CD109746 
    CD700779 BU429528 AA059442 BG938663 AW994510 CB269955 BQ890145 BG777014 
    AL575642 BU658156 BE742713 BF036212 BI544651 AA423860 AW068529 BI086333 

    GeneLoc Exon Structure

    5/34 Alternative Splicing Database (ASD) splice patterns (SP) for SEC31A (see all 34)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7a · 7b · 7c · 7d · 7e ^
    SP1:                                      -           -           -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 8a · 8b · 8c · 8d ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^
    SP1:  -     -     -     -                                         -     -                                   -                                         -         
    SP2:  -     -     -     -                                         -     -                                   -                                         -         
    SP3:  -     -     -     -                                         -     -                                   -                                         -         
    SP4:  -     -     -     -                                         -     -                                   -                                   -     -     -   
    SP5:  -     -     -     -                                         -     -                                   -                                         -         

    ExUns: 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32a · 32b ^ 33 ^ 34a · 34b ^ 35 ^ 36a · 36b ^ 37a · 37b ^ 38 ^ 39a · 39b
    SP1:                                                              -           -     -                 -     -                                                   
    SP2:                                                              -           -     -     -     -     -     -                                                   
    SP3:                                                              -           -     -                 -     -                                                   
    SP4:                                                              -           -     -                 -     -                                                   
    SP5:                                                              -                                                                                             


    ECgene alternative splicing isoforms for SEC31A

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SEC31A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCTCCCTAC
    SEC31A Expression
    About this image
    See SEC31A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SEC31A

    SOURCE GeneReport for Unigene cluster: Hs.370024

    UniProtKB/Swiss-Prot: SC31A_HUMAN, O94979
    Tissue specificity: Abundantly and ubiquitously expressed

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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SEC31A gene from 9/36 species (see all 36)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SEC31A1 SEC31 homolog A (S. cerevisiae) 74.35(n)
    79.86(a)
      422597  NM_001031141.1  NP_001026312.1 
    lizard
    (Anolis carolinensis)
    Reptilia SEC31A6
    --
    78(a)
    1 ↔ 1
    5(43083014-43126338)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.340772 Xenopus laevis transcribed sequence with weak similarity more 78.19(n)    BJ073036.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sec31p2 sec31p homolog (yeast) 75.43(n)   266638  BC054909.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sec311 CG8266-PA 47.99(n)
    39.63(a)
      35877  NM_165630.2  NP_724716.1 
    worm
    (Caenorhabditis elegans)
    Secernentea sec-316
    --
    18(a)
    possible ortholog
    IV(11365596-11371772)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEC31(YDL195W)4
    SEC311
    Component of the Sec13p-Sec31p complex of the COPII more4
    Sec31p1
    43.13(n)1
    28.47(a)1
      4(107208-111029)4
    8513321, 4  NP_010086.21  NP_010086.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G634606
    AT1G188306
    transducin/WD-40 repeat-containing protein
    28(a)
    28(a)
    many ↔ many
    many ↔ many
    3(23430642-23437374)
    1(6489309-6494218)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    WD domain, G-beta repeat domain containing protein...
    WD domain, G-beta repeat domain containing protein...
    25(a)
    21(a)
    1 ↔ many
    possible ortholog
    7(27654963-27664885)
    2(1723476-1727642)


    ENSEMBL Gene Tree for SEC31A (if available)
    TreeFam Gene Tree for SEC31A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SEC31A gene
    SEC31B2  
    1 SIMAP similar gene for SEC31A using alignment to 19 protein entries:     SC31A_HUMAN (see all proteins):
    SEC31B

    SEC31A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1300 NCBI SNPs in SEC31A are shown (see all 1300    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1807101121,2
    --83739323(+) GCAATC/TCTCCT 6 -- ds50010--------
    rs1853713031,2
    --83739446(+) CCCGAC/TCTCTG 6 -- ds50010--------
    rs1113017281,2
    C--83739487(+) ACAAGC/TGTGAG 6 -- ds50011Minor allele frequency- T:0.50NA 2
    rs1465140011,2
    --83739650(+) TGTCCA/GGTCTT 6 -- ds50010--------
    rs1491238411,2
    --83739780(+) TTAAGC/TAGCTG 6 -- ds50010--------
    rs1893556371,2
    --83739945(+) AAACAC/TATTTA 6 -- ut310--------
    rs1156842351,2
    C,F--83740061(+) CCAGGG/ATTCTG 6 -- ut311Minor allele frequency- A:0.02NA 120
    rs1818547711,2
    --83740086(+) GAGTAC/TATCAG 6 -- ut310--------
    rs1865349001,2
    --83740152(+) TAGTCA/CATGTC 6 -- ut310--------
    rs1427456361,2
    C--83740243(+) GCTTAC/TTGGCC 12 N S mis10--------

    HapMap Linkage Disequilibrium report for SEC31A (83739814 - 83822319 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SEC31A: --

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SEC31A for disorders           About GeneDecksing

    OMIM gene information: 610257    OMIM disorders: --

    UniProtKB/Swiss-Prot: SC31A_HUMAN, O94979
  • Note=A chromosomal aberration involving SEC31A is associated with inflammatory myofibroblastic tumors (IMTs).
  • Translocation t(2;4)(p23;q21) with ALK

    6 diseases for SEC31A:    About MalaCards
    inflammatory myofibroblastic tumor    b-cell lymphomas    hodgkin's lymphoma    stomatitis
    choroiditis    malaria

    1 disease from the University of Copenhagen DISEASES database for SEC31A:
    Stomatitis
    Human Genome Epidemiology (HuGE) Navigator: SEC31A (1 document)

    Export disorders for SEC31A 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)
    About This Section

    PubMed articles for SEC31A gene, integrated from 9 sources (see all 50):
    (articles sorted by number of sources associating them with SEC31A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mammalian homologues of yeast sec31p. An ubiquitously expressed form is localized to endoplasmic reticulum (ER) exit sites and is essential for ER-Golgi transport. (PubMed id 10788476)1, 2, 3 Tang B.L....Hong W. (2000)
    2. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2, 3 Nagase T....Ohara O. (1998)
    3. ALG-2 directly binds Sec31A and localizes at endoplasmic reticulum exit sites in a Ca2+-dependent manner. (PubMed id 17196169)1, 2 Shibata H.... Maki M. (2007)
    4. Fusion of the SEC31L1 and ALK genes in an inflammatory myofibroblastic tumor. (PubMed id 16161041)1, 2 Panagopoulos I.... Mandahl N. (2006)
    5. The Ca2+-binding protein ALG-2 is recruited to endoplasmic reticulum exit sites by Sec31A and stabilizes the localization of Sec31A. (PubMed id 16957052)1, 2 Yamasaki A.... Komada M. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Ubiquitin-dependent regulation of COPII coat size and function. (PubMed id 22358839)2 Jin L.... Rape M. (2012)
    9. Epithelial organization and cyst lumen expansion requi re efficient Sec13-Sec31-driven secretion. (PubMed id 22331354)1 Townley A.K....Stephens D.J. (2012)
    10. Shotgun proteomics and network analysis of ubiquitin-r elated proteins from human breast carcinoma epithelial cells. (PubMed id 21853274)1 Zhou J....Liang S. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 22872 HGNC: 17052 AceView: SEC31L1.1 Ensembl:ENSG00000138674 euGenes: HUgn22872
    ECgene: SEC31A Kegg: 22872 H-InvDB: SEC31A

    (According to HUGE)
    About This Section
    HUGE: KIAA0905

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SEC31A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SEC31A gene:
    Search GeneIP for patents involving SEC31A

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



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