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

SEC13 Gene

protein-coding   GIFtS: 65
GCID: GC03M010337

SEC13 Homolog (S. Cerevisiae)

(Previous names: SEC13 (S. cerevisiae)-like 1, SEC13-like 1 (S. cerevisiae))
(Previous symbols: D3S1231E, SEC13L1)
  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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 9

Aliases
SEC13 Homolog (S. Cerevisiae)1 2     SEC13 (S. Cerevisiae)-Like 11
D3S1231E1 2 3 5     SEC13-Like 1 (S. Cerevisiae)1
SEC13L11 2 3 5     npp-202
SEC13R2 3 5     Protein SEC13 Homolog2
SEC13-Like Protein 12 3     SEC13-Like 1 Isoform2
SEC13-Related Protein2 3     

External Ids:    HGNC: 106971   Entrez Gene: 63962   Ensembl: ENSG000001570207   OMIM: 6001525   UniProtKB: P557353   
ORGUL members:    fRNAdb10:FR231405      
H-InvDB12:HIT000299574 HIT000441151 HIT000299574    
NCBI13:CR620379    
NONCODE14:n335700 n332358 n406834 n406833      

Export aliases for SEC13 gene to outside databases

Previous GC identifers: GC03M010318 GC03M010335


(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 SEC13 Gene:
The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the
endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 protein, which is
required for vesicle biogenesis from endoplasmic reticulum during the transport of proteins. Multiple
alternatively spliced transcript variants have been found. (provided by RefSeq, Oct 2008)

GeneCards Summary for SEC13 Gene: 
SEC13 (SEC13 homolog (S. cerevisiae)) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with SEC13 include atrioventricular septal defect, and congenital dyserythropoietic anemia, and among its related super-pathways are COPII (Coat Protein 2) Mediated Vesicle Transport and Clathrin-dependent protein traffic. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: SEC13_HUMAN, P55735
Function: Functions as a component of the nuclear pore complex (NPC) and the COPII coat. At the endoplasmic
reticulum, SEC13 is involved in the biogenesis of COPII-coated vesicles

Gene Wiki entry for SEC13 Gene

fRNAdb sequence ontology for SEC13:
ncRNA - An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product.

View fRNAdb secondary structures for SEC13

(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SEC13 gene promoter:
         E2F-3a   E2F-4   E2F-5   RP58   CUTL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSEC13 promoter sequence
   Search SABiosciences Chromatin IP Primers for SEC13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SEC13


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

Entrez Gene cytogenetic band: 3p25-p24   Ensembl cytogenetic band:  3p25.3   HGNC cytogenetic band: 3p25-p24

SEC13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEC13 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M010337:  view genomic region     (about GC identifiers)

Start:
10,334,815 bp from pter      End:
10,362,862 bp from pter
Size:
28,048 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for SEC13

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SEC13_HUMAN, P55735 (See protein sequence)
Recommended Name: Protein SEC13 homolog  
Size: 322 amino acids; 35541 Da
Subunit: At the nuclear pore: component of the Y-shaped Nup107-160 subcomplex of the nuclear pore complex (NPC).
The Nup107-160 subcomplex includes NUP160, NUP133, NUP107, NUP98, NUP85, NUP43, NUP37, SEH1 and SEC13. At the
COPII coat complex: interacts with SEC31A and SEC31B
Subcellular location: Cytoplasmic vesicle, COPII-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic
side. Endoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus, nuclear pore
complex. Note=In interphase, localizes at both sides of the NPC
Sequence caution: Sequence=AAH02634.2; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for SEC13:
3BG0 (3D)        3BG1 (3D)    
Secondary accessions: A8MV37 Q5BJF0 Q9BRM6 Q9BUG7
Alternative splicing: 2 isoforms:  P55735-1   P55735-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEC13: NX_P55735

Explore proteomics data for SEC13 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P55735

  • SEC13 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SEC13 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001129498.1  NP_001129704.1  NP_001265875.1  NP_109598.2  NP_899195.1  

    ENSEMBL proteins: 
     ENSP00000380298   ENSP00000336566   ENSP00000312122   ENSP00000380306   ENSP00000373312  
     ENSP00000401368   ENSP00000400260   ENSP00000398623   ENSP00000404141  
    Reactome Protein details: P55735
    Human Recombinant Protein Products for SEC13: 
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    Novus Biologicals SEC13 Proteins
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for SEC13
    Cloud-Clone Corp. Proteins for SEC13 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000776colocalizes with kinetochore IDA15146057
    GO:0005635nuclear envelope IDA15146057
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005829cytosol TAS--
    GO:0012507ER to Golgi transport vesicle membrane TAS--

    SEC13 for ontologies           About GeneDecksing



    SEC13 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    WDR: WD repeat domain containing

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

    Graphical View of Domain Structure for InterPro Entry P55735

    ProtoNet protein and cluster: P55735

    1 Blocks protein domain: IPB001680 G-protein beta WD-40 repeat signature

    UniProtKB/Swiss-Prot: SEC13_HUMAN, P55735
    Similarity: Belongs to the WD repeat SEC13 family
    Similarity: Contains 6 WD repeats


    SEC13 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SEC13_HUMAN, P55735
    Function: Functions as a component of the nuclear pore complex (NPC) and the COPII coat. At the endoplasmic
    reticulum, SEC13 is involved in the biogenesis of COPII-coated vesicles

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15146057
         
    SEC13 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for SEC13:
     Decreased Salmonella enterica   Decreased Salmonella enterica   Increased circadian period len  Nuclear 60S biogenesis defects 
     Nucleoplasmic pre-40S maturati  Synthetic lethal with Ras 

         1 MGI phenotypic allele for Sec13 (no phenotypes)

    SEC13 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SEC13 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SEC13 
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    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate SEC13:
    hsa-miR-3910 hsa-miR-4261 hsa-miR-124 hsa-miR-1207-3p hsa-miR-506 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidSEC13 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SEC13 About   (see all 15)                                                                                              See pathways by source

    SuperPathContained pathways About
    1COPII (Coat Protein 2) Mediated Vesicle Transport
    COPII (Coat Protein 2) Mediated Vesicle Transport0.36
    ER to Golgi Transport0.36
    Delta508-CFTR traffic / ER-to-Golgi in CF0.36
    Antigen Presentation: Folding, assembly and peptide loading of class I MHC0.31
    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
    3M Phase
    Mitotic Anaphase0.94
    M Phase0.88
    Separation of Sister Chromatids0.94
    Mitotic M-M/G1 phases0.88
    Mitotic Metaphase and Anaphase0.94
    4Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation0.77
    Post-translational protein modification0.44
    WNT ligand biogenesis and trafficking0.77
    Metabolism of proteins0.35
    Signaling by Wnt0.62
    5Resolution of Sister Chromatid Cohesion
    Resolution of Sister Chromatid Cohesion0.93
    Mitotic Prometaphase0.93

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SEC13
        Clathrin-dependent protein traffic


    4 GeneGo (Thomson Reuters) Pathways for SEC13
        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 SEC13
        SREBP signalling

    5/24        Reactome Pathways for SEC13 (see all 24)
        Antigen Presentation: Folding, assembly and peptide loading of class I MHC
    Mitotic Prometaphase
    Resolution of Sister Chromatid Cohesion
    Membrane Trafficking
    Cell Cycle


    2         Kegg Pathways  (Kegg details for SEC13):
        RNA transport
    Protein processing in endoplasmic reticulum


    SEC13 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SEC13

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

    5/171 Interacting proteins for SEC13 (P557351, 2, 3 ENSP000003121224) via UniProtKB, MINT, STRING, and/or I2D (see all 171)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TAB2Q9NYJ82, 3MINT-49202 I2D: score=2 
    TAF9Q9Y3D83, ENSP000003702014I2D: score=5 STRING: ENSP00000370201
    AK6Q9Y3D83I2D: score=5 
    RPN1P048433, ENSP000002962554I2D: score=4 STRING: ENSP00000296255
    SEC16BQ96JE73, ENSP000003083394I2D: score=3 STRING: ENSP00000308339
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0006886intracellular protein transport NAS7987303
    GO:0006888ER to Golgi vesicle-mediated transport TAS--
    GO:0018279protein N-linked glycosylation via asparagine TAS--

    SEC13 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SEC13

    Search CenterWatch for drugs/clinical trials and news about SEC13

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    1 fRNAdb Secondary structure:


    REFSEQ mRNAs for SEC13 gene (5 alternative transcripts): 
    NM_001136026.2  NM_001136232.2  NM_001278946.1  NM_030673.3  NM_183352.2  

    Unigene Cluster for SEC13:

    SEC13 homolog (S. cerevisiae)
    Hs.166924  [show with all ESTs]
    Unigene Representative Sequence: NR_024272
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000492602 ENST00000397109(uc003bvm.3) ENST00000337354 ENST00000350697(uc003bvp.3 uc003bvn.3)
    ENST00000479868(uc003bvl.3) ENST00000397117 ENST00000383801(uc003bvo.3)
    ENST00000477547(uc003bvr.1) ENST00000476597 ENST00000490283 ENST00000482647
    ENST00000397105(uc011aul.2) ENST00000431352 ENST00000397102 ENST00000397101
    ENST00000397099 ENST00000428626 ENST00000445064
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidSEC13 3' UTR sequence
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    Additional mRNA sequence: 

    AF052155.1 AK223019.1 AK294662.1 AK301999.1 BC002634.2 BC006167.1 BC091506.1 EF036494.1 
    L09260.1 NR_024272.1 NR_024273.1 

    24/28 DOTS entries (see all 28):

    DT.100823965  DT.449941  DT.102832646  DT.95159599  DT.95159600  DT.100823964  DT.92445337  DT.100804630 
    DT.100823960  DT.100823969  DT.97862198  DT.100701826  DT.100823962  DT.100823968  DT.120907303  DT.100823955 
    DT.100823963  DT.40122936  DT.92032339  DT.92445352  DT.100702383  DT.120907313  DT.120907319  DT.120907328 

    24/488 AceView cDNA sequences (see all 488):

    AI206685 W76281 BP382364 BM449663 CA432105 BM800472 F31621 CR606959 
    BM669432 CR620379 AU122171 W72857 AW952593 CB161683 CB163160 AU142469 
    BP336840 BU845967 BX460874 NM_030673 AW439640 AA722477 CA414221 AF052155 

    GeneLoc Exon Structure

    5/18 Alternative Splicing Database (ASD) splice patterns (SP) for SEC13 (see all 18)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12 ^
    SP1:                          -     -     -     -     -     -     -     -                       -     -     -     -                                   -         
    SP2:                                      -     -     -     -     -     -                       -     -     -     -                                   -         
    SP3:                                                                                            -     -     -     -                                   -         
    SP4:                          -     -     -     -     -     -                                   -     -     -     -                                   -         
    SP5:                                                                                            -     -     -     -                                   -         

    ExUns: 13a · 13b ^ 14a · 14b ^ 15 ^ 16
    SP1:                    -               
    SP2:                    -               
    SP3:                    -               
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for SEC13

    (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

    SEC13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTACGAGGAA
    SEC13 Expression
    About this image


    See SEC13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SEC13

    SOURCE GeneReport for Unigene cluster: Hs.166924
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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 SEC13 gene from 10/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sec131 , 5 SEC13 homolog (S. cerevisiae)1, 5 89.44(n)1
    96.89(a)1
      6 (52.84 cM)5
    1103791  NM_024206.41  NP_077168.21 
     1137280675 
    chicken
    (Gallus gallus)
    Aves SEC131 SEC13 homolog (S. cerevisiae) 80.94(n)
    94.06(a)
      416119  XM_414450.3  XP_414450.3 
    lizard
    (Anolis carolinensis)
    Reptilia SEC136
    SEC13 homolog (S. cerevisiae)
    83(a)
    1 ↔ 1
    GL343273.1(842316-855490)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC043755.12   -- 79.34(n)    BC043755.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa08f092 Danio rerio cDNA clone MGC63980 IMAGE6792353, complete more 81.44(n)    BC054585.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sec131 CG6773-PA 61.52(n)
    59.73(a)
      44437  NM_143720.3  NP_651977.1 
    worm
    (Caenorhabditis elegans)
    Secernentea npp-201 Protein NPP-20 49.61(n)
    43.89(a)
      176957  NM_067685.2  NP_500086.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEC13(YLR208W)4
    SEC131
    Component of the Nup84 nuclear pore sub-complex, the more4
    Sec13p1
    54.98(n)1
    52.58(a)1
      12(559551-560444)4
    8509051, 4  NP_013309.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G300501 protein transport protein SEC13 58.42(n)
    56.36(a)
      817556  NM_128560.2  NP_180566.1 
    rice
    (Oryza sativa)
    Liliopsida Os.88302 Oryza sativa mRNA for Sec13p, complete cds 72.27(n)    AK112028.1 


    ENSEMBL Gene Tree for SEC13 (if available)
    TreeFam Gene Tree for SEC13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SEC13 gene
    3 SIMAP similar genes for SEC13 using alignment to 7 protein entries:     SEC13_HUMAN (see all proteins):
    SEH1L    PF20    RBBP4

    SEC13 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SEC13
    PGOHUM00000237987 PGOHUM00000236259


    (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) 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

    10/588 SNPs in SEC13 are shown (see all 588)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2000660641,2
    C--10300200(+) GCTGT-/AGGGTAT 2 -- us2k10--------
    rs1169354091,2
    F--10342127(+) GGTGAT/CACCTG 4 -- ds50011Minor allele frequency- C:0.03EA 120
    rs1902088801,2
    --10342164(+) ATGGGC/GCCCTC 4 -- ds50010--------
    rs1834139611,2
    --10342170(+) CCCTCC/TTTTTC 4 -- ds50010--------
    rs1457019841,2
    C--10342181(+) CTGACA/GGGGTC 4 -- ds50010--------
    rs1473240451,2
    C--10342255(+) TACCAC/TGTTGC 4 -- ds50010--------
    rs1491621,2
    C,F,A,H--10342262(+) TTGCAT/CCTGCG 4 -- ds5001 ese326Minor allele frequency- C:0.17NS EA NA WA CSA 2351
    rs1487835811,2
    --10342388(+) GCAGAC/TCCAGG 4 -- ds50010--------
    rs1395721801,2
    C--10342417(+) AAGGC-/TGAG  
            
    TGAGT
    4 -- ds50010--------
    rs1888114831,2
    --10342559(+) TGGACC/TGACAA 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for SEC13 (10334815 - 10362862 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SEC13:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv809e201CNV Deletion23290073
    nsv436362CNV Deletion17901297
    esv2556727CNV Deletion19546169
    nsv508903CNV Insertion20534489
    nsv436869CNV Insertion17901297
    esv4117CNV Complex18987735

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    (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.)
    About This Section
    OMIM gene information: 600152OMIM information: 117360 600644 252350 601869 606658 607135 608448 608982 609299    
    3 diseases for SEC13:    About MalaCards
    atrioventricular septal defect    congenital dyserythropoietic anemia    anemia


    SEC13 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SEC13
    Human Genome Epidemiology (HuGE) Navigator: SEC13 (1 document)

    Export disorders for SEC13 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 SEC13 gene, integrated from 9 sources (see all 51):
    (articles sorted by number of sources associating them with SEC13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of a novel human gene, SEC13R, related to the yeast secretory pathway gene SEC13, and mapping to a conserved linkage group on human chromosome 3p24-p25 and mouse chromosome 6. (PubMed id 7987303)1, 2, 3, 9 Swaroop A.... Smith D.I. (1994)
    2. Architecture of a coat for the nuclear pore membrane. (PubMed id 18160040)1, 2 Hsia K.C....Hoelz A. (2007)
    3. 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. (2004)
    4. Sec13 shuttles between the nucleus and the cytoplasm and stably interacts with Nup96 at the nuclear pore complex. (PubMed id 14517296)1, 2 Enninga J....Fontoura B.M. (2003)
    5. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    6. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 2 Yu W.... Gibbs R.A. (1997)
    7. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    8. Bcl2-associated Athanogene 3 Interactome Analysis Reve als a New Role in Modulating Proteasome Activity. (PubMed id 23824909)1 Chen Y....Ge F. (2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. Epithelial organization and cyst lumen expansion requi re efficient Sec13-Sec31-driven secretion. (PubMed id 22331354)1 Townley A.K....Stephens D.J. (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: 6396 HGNC: 10697 AceView: SEC13L1 Ensembl:ENSG00000157020 euGenes: HUgn6396
    ECgene: SEC13 Kegg: 6396 H-InvDB: SEC13

    (According to HUGE)
    About This Section
      --

    (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 SEC13 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 SEC13 gene:
    Search GeneIP for patents involving SEC13

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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