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SEC63 Gene

protein-coding   GIFtS: 61
GCID: GC06M108188

SEC63 Homolog (S. Cerevisiae)

(Previous name: SEC63-like (S. cerevisiae))
  See SEC63-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
SEC63 Homolog (S. Cerevisiae)1 2     ERdj22
SEC63L2 3     PRO25072
SEC63-Like (S. Cerevisiae)1     Translocation Protein SEC63 Homolog2
DNAJC232     

External Ids:    HGNC: 210821   Entrez Gene: 112312   Ensembl: ENSG000000257967   OMIM: 6086485   UniProtKB: Q9UGP83   

Export aliases for SEC63 gene to outside databases

Previous GC identifers: GC06M108192 GC06M108237 GC06M108298 GC06M105758


(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 SEC63 Gene:
The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum
(ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associated with ribosome-free
SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into
the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject
to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein
located in the rough ER. (provided by RefSeq, Jul 2008)

GeneCards Summary for SEC63 Gene:
SEC63 (SEC63 homolog (S. cerevisiae)) is a protein-coding gene. Diseases associated with SEC63 include polycystic liver disease, and liver disease. GO annotations related to this gene include protein transporter activity and receptor activity.

UniProtKB/Swiss-Prot: SEC63_HUMAN, Q9UGP8
Function: Required for integral membrane and secreted preprotein translocation across the endoplasmic reticulum
membrane

Gene Wiki entry for SEC63 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 at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the SEC63 gene promoter:
         ER-alpha   Tal-1beta   FAC1   POU2F1   POU2F1a   FOXJ2 (long isoform)   Cart-1   FOXJ2   ITF-2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSEC63 promoter sequence
   Search Chromatin IP Primers for SEC63

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEC63


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

Entrez Gene cytogenetic band: 6q21   Ensembl cytogenetic band:  6q21   HGNC cytogenetic band: 6q21

SEC63 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEC63 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M108188:  view genomic region     (about GC identifiers)

Start:
108,188,960 bp from pter      End:
108,279,482 bp from pter
Size:
90,523 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SEC63_HUMAN, Q9UGP8 (See protein sequence)
Recommended Name: Translocation protein SEC63 homolog  
Size: 760 amino acids; 87997 Da
Subunit: Part of the multicomponent translocon that contains the trimeric SEC61 complex, SEC62 and SEC63
Sequence caution: Sequence=AAH23598.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
Secondary accessions: O95380 Q5THN4 Q86VS9 Q8IWL0 Q9NTE0

Explore the universe of human proteins at neXtProt for SEC63: NX_Q9UGP8

Explore proteomics data for SEC63 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys135, Lys147, Lys300, Lys381, Lys407, Lys633, Lys688, Lys710
  • Modification sites at PhosphoSitePlus

  • See SEC63 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_009145.1  
    ENSEMBL proteins: 
     ENSP00000357998   ENSP00000403144   ENSP00000410968  

    SEC63 Human Recombinant Protein Products:

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    Novus Biologicals SEC63 Proteins
    Novus Biologicals SEC63 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SEC63

     
    Search eBioscience for Proteins for SEC63 

     
    antibodies-online proteins for SEC63 (5 products) 

     
    antibodies-online peptides for SEC63

    SEC63 Antibody Products:

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    antibodies-online antibodies for SEC63 (17 products) 

    SEC63 Assay Products:

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    antibodies-online kits for SEC63 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    DNAJ: Heat shock proteins / DNAJ (HSP40)

    4 InterPro protein domains:
     IPR014756 Ig_E-set
     IPR004179 Sec63-dom
     IPR027137 Sec63
     IPR001623 DnaJ_domain

    Graphical View of Domain Structure for InterPro Entry Q9UGP8

    ProtoNet protein and cluster: Q9UGP8

    UniProtKB/Swiss-Prot: SEC63_HUMAN, Q9UGP8
    Similarity: Contains 1 J domain
    Similarity: Contains 2 SEC63 domains


    Find genes that share domains with SEC63           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SEC63_HUMAN, Q9UGP8
    Function: Required for integral membrane and secreted preprotein translocation across the endoplasmic reticulum
    membrane

         Genatlas biochemistry entry for SEC63:
    S cerevisiae SEC63P homolog rough,endoplamic reticulum integral membrane protein,component of the transmembrane
    complex that mediates posttranslational translocation of nescent peptides across the ER

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity TAS10799540
    GO:0005488binding ----
    GO:0005515protein binding IPI--
    GO:0008565protein transporter activity IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with SEC63           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sec63):
     cellular  homeostasis/metabolism  liver/biliary system  mortality/aging  renal/urinary system 

    Find genes that share phenotypes with SEC63           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SEC63

    miRNA
    Products:
        
    miRTarBase miRNAs that target SEC63:
    hsa-mir-15a-5p (MIRT051342), hsa-mir-296-3p (MIRT038508), hsa-mir-192-5p (MIRT026665), hsa-mir-30c-2-3p (MIRT038691), hsa-mir-21-5p (MIRT030915)

    Block miRNA regulation of human, mouse, rat SEC63 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEC63 (see all 81):
    hsa-miR-323-3p hsa-miR-579 hsa-miR-3678-3p hsa-miR-3653 hsa-miR-374a hsa-miR-138-2* hsa-miR-502-3p hsa-miR-4274
    SwitchGear 3'UTR luciferase reporter plasmidSEC63 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SEC63
    Predesigned siRNA for gene silencing in human, mouse, rat SEC63

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: SEC63 (NM_007214)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEC63
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEC63

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SEC63
    Browse ESI BIO Cell Lines and PureStem Progenitors for SEC63 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC63


    (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
    SEC63_HUMAN, Q9UGP8: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    nucleus2
    plasma membrane2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum TAS10799540
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016020membrane IDA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with SEC63           About GenesLikeMe


    (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 SEC63 About    
    See pathways by source

    SuperPathContained pathways About
    1Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum
    2Protein export
    Protein export


    Find genes that share SuperPaths with SEC63           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Kegg Pathways  (Kegg details for SEC63):
        Protein export
    Protein processing in endoplasmic reticulum

        Pathway & Disease-focused RT2 Profiler PCR Array including SEC63: 
              Unfolded Protein Response in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SEC63

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

    Selected Interacting proteins for SEC63 (Q9UGP81, 2, 3 ENSP000003579984) via UniProtKB, MINT, STRING, and/or I2D (see all 151)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NXNQ6DKJ42, 3, ENSP000003374434MINT-8085420 I2D: score=1 STRING: ENSP00000337443
    IRF1P109143, ENSP000002454144I2D: score=1 STRING: ENSP00000245414
    PHLDA3Q9Y5J53, ENSP000003562784I2D: score=1 STRING: ENSP00000356278
    SEC61BP604683, ENSP000002236414I2D: score=2 STRING: ENSP00000223641
    SEC62Q994423, ENSP000003376884I2D: score=2 STRING: ENSP00000337688
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001889liver development IEA--
    GO:0006612protein targeting to membrane TAS10799540
    GO:0006614SRP-dependent cotranslational protein targeting to membrane IMP--
    GO:0006620posttranslational protein targeting to membrane IMP--
    GO:0006807nitrogen compound metabolic process IEA--

    Find genes that share ontologies with SEC63           About GenesLikeMe



    (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 SEC63



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SEC63 gene (2 alternative transcripts): 
    NM_007214.4  NM_018529.1  

    Unigene Cluster for SEC63:

    SEC63 homolog (S. cerevisiae)
    Hs.26904  [show with all ESTs]
    Unigene Representative Sequence: NM_007214
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369002(uc003psb.4 uc003psc.4) ENST00000459782 ENST00000473746
    ENST00000465210 ENST00000466419 ENST00000489455 ENST00000429168 ENST00000484803
    ENST00000446496 ENST00000460009
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SEC63 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEC63 (see all 81):
    hsa-miR-323-3p hsa-miR-579 hsa-miR-3678-3p hsa-miR-3653 hsa-miR-374a hsa-miR-138-2* hsa-miR-502-3p hsa-miR-4274
    SwitchGear 3'UTR luciferase reporter plasmidSEC63 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SEC63
    Predesigned siRNA for gene silencing in human, mouse, rat SEC63
    Clone
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    OriGene clones in human, mouse for SEC63 (see all 7)
    OriGene ORF clones in mouse, rat for SEC63
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SEC63 (NM_007214)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEC63
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEC63
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SEC63
    OriGene qSTAR qPCR primer pairs in human, mouse for SEC63
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SEC63
      QuantiTect SYBR Green Assays in human, mouse, rat SEC63
      QuantiFast Probe-based Assays in human, mouse, rat SEC63

    Additional mRNA sequence: 

    AF100141.1 AF119883.1 AJ011779.1 AK001465.1 AK027374.1 AK074835.1 AK095376.1 AL137338.1 
    BC001153.1 BC009066.1 BC023598.2 BC047221.1 BC048287.1 X75689.1 

    Selected DOTS entries (see all 28):

    DT.100762995  DT.40110593  DT.447048  DT.100681117  DT.100824454  DT.100824458  DT.111276  DT.95226721 
    DT.91703879  DT.97769944  DT.100036229  DT.121343129  DT.121342929  DT.121343167  DT.100036230  DT.100824457 
    DT.100648551  DT.121342873  DT.121342884  DT.121342894  DT.121343034  DT.121343178  DT.91998149  DT.92446037 

    Selected AceView cDNA sequences (see all 306):

    AI365631 AI683096 AA974278 CB160936 AI632863 AA832456 N53634 CB135261 
    AA459117 BU616905 AA259060 BM310449 AW612986 AW137737 AA227149 AI869034 
    BQ937587 AW069633 AA599201 AI686705 BX485576 AI474868 BM974493 BM764168 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SEC63    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:                                                                  
    SP2:        -                                                         
    SP3:                                                                  


    ECgene alternative splicing isoforms for SEC63

    (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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    SEC63 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAAGGAAGC
    SEC63 Expression
    About this image


    SEC63 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
     
     Eye (Sensory Organs)
             Retina
     
     Adrenal Gland (Endocrine System)
    SEC63 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEC63 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.26904

    UniProtKB/Swiss-Prot: SEC63_HUMAN, Q9UGP8
    Tissue specificity: Widely expressed, with high levels in the liver

        Pathway & Disease-focused RT2 Profiler PCR Array including SEC63: 
              Unfolded Protein Response in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SEC63
    OriGene qSTAR qPCR primer pairs in human, mouse for SEC63
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SEC63
    QuantiTect SYBR Green Assays in human, mouse, rat SEC63
    QuantiFast Probe-based Assays in human, mouse, rat SEC63
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC63

    (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 animals and fungi.

    Orthologs for SEC63 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sec631 , 5 SEC63-like (S. cerevisiae)1, 5 91.6(n)1
    96.5(a)1
      10 (22.89 cM)5
    1407401  NM_153055.31  NP_694695.31 
     427614965 
    chicken
    (Gallus gallus)
    Aves SEC631 SEC63 homolog (S. cerevisiae) 83.36(n)
    91.5(a)
      421774  XM_004940340.1  XP_004940397.1 
    lizard
    (Anolis carolinensis)
    Reptilia SEC636
    SEC63 homolog (S. cerevisiae)
    88(a)
    1 ↔ 1
    1(190214209-190262158)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.83412 Xenopus laevis transcribed sequence with moderate similarity more 80.38(n)    BU914182.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sec631 SEC63-like (S. cerevisiae) 68.57(n)
    72.21(a)
      436861  NM_001002588.1  NP_001002588.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sec631 sec63 50.93(n)
    46.65(a)
      38819  NM_139854.2  NP_648111.1 
    worm
    (Caenorhabditis elegans)
    Secernentea dnj-291 dnj-29 50.14(n)
    37.22(a)
      173278  NM_061062.4  NP_493463.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEC63(YOR254C)4 Essential subunit of Sec63 complex (Sec63p, Sec62p, more   --   15(807023-805032) 854428  NP_014897.1 


    ENSEMBL Gene Tree for SEC63 (if available)
    TreeFam Gene Tree for SEC63 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SEC63 gene

    Find genes that share paralogs with SEC63           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for SEC63
    PGOHUM00000244805 PGOHUM00000245877


    (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)
    About This Section

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    Selected SNPs for SEC63 (see all 1904)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs99866011,2
    C,H--108186851(+) ACCTCG/ATGCTG 1 -- ds50015Minor allele frequency- A:0.00NS EA NA 414
    rs1455150981,2
    C--108186959(+) AAGTCA/GTCCCC 1 -- ds50010--------
    rs772487901,2
    C--108186983(+) CATACC/GTGCAC 1 -- ds50012Minor allele frequency- G:0.05NA 122
    rs1380553981,2
    --108187019(+) GTGCAA/GAACCC 1 -- ds50010--------
    rs2021210411,2
    C--108187242(+) CAAATA/CAGAAA 1 -- ds50010--------
    rs3676335951,2
    --108187243(+) AATCA-/GGAAAA 1 -- ds50010--------
    rs602549661,2
    C--108187256(+) AAAAAA/-TTAAT 1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs126619661,2
    C,F,H--108187310(+) GTACAA/GTATAT 1 -- ut311Minor allele frequency- G:0.03WA 118
    rs773976021,2
    C,F--108187423(+) CCTGGG/CATGTA 1 -- ut311Minor allele frequency- C:0.04WA 118
    rs1166643631,2
    F--108187518(+) AGATCG/CCATCT 1 -- ut311Minor allele frequency- C:0.01WA 118

    HapMap Linkage Disequilibrium report for SEC63 (108188960 - 108279482 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SEC63 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2274293CNV Deletion18987734
    esv2732554CNV Deletion23290073
    esv2438036CNV Deletion19546169
    esv1260742CNV Deletion17803354
    esv3718CNV Deletion18987735
    esv2677459CNV Deletion23128226
    esv2513800CNV Deletion19546169
    nsv348411CNV Loss16902084
    nsv830765CNV Loss17160897
    nsv823816CNV Loss20364138

    Human Gene Mutation Database (HGMD): SEC63
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SEC63
    DNA2.0 Custom Variant and Variant Library Synthesis for SEC63

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608648   
    OMIM disorders: 174050  
    UniProtKB/Swiss-Prot: SEC63_HUMAN, Q9UGP8
  • Polycystic liver disease (PCLD) [MIM:174050]: A hepatobiliary disease characterized by overgrowth of
    biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 2 diseases for SEC63:    
    About MalaCards
    polycystic liver disease    liver disease

    1 disease from the University of Copenhagen DISEASES database for SEC63:
    Polycystic liver disease

    Find genes that share disorders with SEC63           About GenesLikeMe

    2 Novoseek inferred disease relationships for SEC63 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    polycystic liver disease 94.8 6 16835903 (2), 18224332 (1), 19801576 (1), 15649821 (1)
    cysts 51.1 2 16835903 (2)

    Genetic Association Database (GAD): SEC63
    Human Genome Epidemiology (HuGE) Navigator: SEC63 (2 documents)

    Export disorders for SEC63 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 SEC63 gene, integrated from 10 sources (see all 38):
    (articles sorted by number of sources associating them with SEC63)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of a novel mammalian DnaJ-like Sec63p homolog. (PubMed id 10543453)1, 2, 3 Skowronek M.H.... Haas I.G. (Biol. Chem. 1999)
    2. Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. (PubMed id 16835903)1, 4, 9 Waanders E....Drenth J.P. (Hum. Mutat. 2006)
    3. Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases. (PubMed id 20408955)1, 4 Van Keimpema L....Drenth J.P. (Liver Int. 2011)
    4. Mutations in SEC63 cause autosomal dominant polycystic liver disease. (PubMed id 15133510)1, 2 Davila S.... Somlo S. (Nat. Genet. 2004)
    5. 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)
    6. Mammalian Sec61 is associated with Sec62 and Sec63. (PubMed id 10799540)1, 2 Meyer H.-A....Hartmann E. (J. Biol. Chem. 2000)
    7. Human Sec63 endoplasmic reticulum membrane protein, map position 6q21. (PubMed id 10219736)1, 3 Woollatt E....Iismaa T.P. (Chromosome Res. 1999)
    8. Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p. (PubMed id 18224332)1, 9 Waanders E....Drenth J.P. (Histochem. Cell Biol. 2008)
    9. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    10. CK2 phosphorylation of human Sec63 regulates its interaction with Sec62. (PubMed id 23287549)1 Ampofo E....Montenarh M. (Biochim. Biophys. Acta 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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

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    Entrez Gene: 11231 HGNC: 21082 AceView: SEC63 Ensembl:ENSG00000025796 euGenes: HUgn11231
    ECgene: SEC63 Kegg: 11231 H-InvDB: SEC63

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for SEC63 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SEC63 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SEC63[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SEC63 gene:
    Search GeneIP for patents involving SEC63

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



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