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SEC61A1 Gene

protein-coding   GIFtS: 62
GCID: GC03P127770

Sec61 Alpha 1 Subunit (S. Cerevisiae)

  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
Sec61 Alpha 1 Subunit (S. Cerevisiae)1 2     Protein Transport Protein SEC61 Alpha Subunit2
SEC61A2 3     Protein Transport Protein Sec61 Subunit Alpha2
Sec61 Alpha-12 3     Protein Transport Protein Sec61 Subunit Alpha Isoform 12
HSEC612     Sec61 Homolog2
SEC612     

External Ids:    HGNC: 182761   Entrez Gene: 299272   Ensembl: ENSG000000582627   OMIM: 6092135   UniProtKB: P616193   

Export aliases for SEC61A1 gene to outside databases

Previous GC identifers: GC03P124603 GC03P127954 GC00U912982 GC03P129092 GC03P129253 GC03P125151


(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 SEC61A1 Gene:
The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the
insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly
associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha
subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. (provided by RefSeq, Jul
2008)

GeneCards Summary for SEC61A1 Gene:
SEC61A1 (Sec61 alpha 1 subunit (S. cerevisiae)) is a protein-coding gene. Diseases associated with SEC61A1 include secretory diarrhea, and polycystic liver disease. GO annotations related to this gene include ribosome binding. An important paralog of this gene is SEC61A2.

UniProtKB/Swiss-Prot: S61A1_HUMAN, P61619
Function: Plays a crucial role in the insertion of secretory and membrane polypeptides into the ER. Required for
assembly of membrane and secretory proteins. Tightly associated with membrane-bound ribosomes, either directly or
through adapter proteins

Gene Wiki entry for SEC61A1 (Sec61 alpha 1) 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_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the SEC61A1 gene promoter:
         STAT1   AP-1   STAT1beta   STAT1alpha   c-Ets-1   PPAR-gamma1   POU2F1   GATA-6   POU2F1a   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSEC61A1 promoter sequence
   Search Chromatin IP Primers for SEC61A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEC61A1


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

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

SEC61A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEC61A1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P127770:  view genomic region     (about GC identifiers)

Start:
127,770,484 bp from pter      End:
127,790,526 bp from pter
Size:
20,043 bases      Orientation:
plus 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: S61A1_HUMAN, P61619 (See protein sequence)
Recommended Name: Protein transport protein Sec61 subunit alpha isoform 1  
Size: 476 amino acids; 52265 Da
Subunit: Heterotrimeric complex composed of SEC61-alpha, SEC61-beta and SEC61-gamma
Sequence caution: Sequence=BAC11283.1; Type=Erroneous initiation; Sequence=BAC11434.1; Type=Erroneous initiation;
Secondary accessions: P38378 P57726 Q5JPF8 Q8N0Z4 Q8N3U3 Q8NC71 Q9BU16 Q9Y2R3
Alternative splicing: 2 isoforms:  P61619-1   P61619-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEC61A1: NX_P61619

Explore proteomics data for SEC61A1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys4, Lys10, Lys21, Lys107, Lys388, Lys392, Lys395
  • Modification sites at PhosphoSitePlus

  • See SEC61A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_037468.1  
    ENSEMBL proteins: 
     ENSP00000418493   ENSP00000243253   ENSP00000419172   ENSP00000411445  
    Reactome Protein details: P61619

    SEC61A1 Human Recombinant Protein Products:

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    SEC61A1 Antibody Products:

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    Browse ELISAs at Cloud-Clone Corp.
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR023201 SecY_su_dom
     IPR002208 SecY/SEC61-alpha
     IPR019561 Translocon_Sec61/SecY_plug_dom

    Graphical View of Domain Structure for InterPro Entry P61619

    ProtoNet protein and cluster: P61619

    1 Blocks protein domain: IPB002208 SecY protein

    UniProtKB/Swiss-Prot: S61A1_HUMAN, P61619
    Similarity: Belongs to the SecY/SEC61-alpha family


    SEC61A1 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: S61A1_HUMAN, P61619
    Function: Plays a crucial role in the insertion of secretory and membrane polypeptides into the ER. Required for
    assembly of membrane and secretory proteins. Tightly associated with membrane-bound ribosomes, either directly or
    through adapter proteins

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0043022ribosome binding ISS--
         
    SEC61A1 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for SEC61A1:
     Decreased viability of wild-ty  G0/1 arrest  Increased G1 DNA content  Increased cell number in S and 
     Increased gamma-H2AX phosphory 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sec61a1):
     adipose tissue  cellular  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     liver/biliary system  muscle 

    SEC61A1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SEC61A1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SEC61A1

    miRNA
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    miRTarBase miRNAs that target SEC61A1:
    hsa-mir-193b-3p (MIRT016511), hsa-mir-615-3p (MIRT040296), hsa-mir-132-3p (MIRT021794), hsa-mir-1 (MIRT023915), hsa-mir-16-5p (MIRT031834), hsa-mir-128-3p (MIRT022079), hsa-mir-335-5p (MIRT018417)

    Block miRNA regulation of human, mouse, rat SEC61A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEC61A1 (see all 30):
    hsa-miR-3673 hsa-miR-4251 hsa-miR-128 hsa-miR-331-3p hsa-miR-4305 hsa-miR-218 hsa-miR-1184 hsa-miR-2115
    SwitchGear 3'UTR luciferase reporter plasmidSEC61A1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SEC61A1

    Gene Editing
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEC61A1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC61A1


    (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
    S61A1_HUMAN, P61619: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    nucleus3
    plasma membrane3
    cytosol2
    golgi apparatus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005791rough endoplasmic reticulum IEA--
    GO:0016020membrane IDA--
    GO:0016021integral component of membrane ----
    GO:0030176integral component of endoplasmic reticulum membrane ISS--

    SEC61A1 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 SEC61A1 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1CDK-mediated phosphorylation and removal of Cdc6
    ER-Phagosome pathway0.80
    Immune response Antigen presentation by MHC class I0.68
    Antigen processing-Cross presentation0.80
    2Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    3Influenza Viral RNA Transcription and Replication
    SRP-dependent cotranslational protein targeting to membrane0.83
    Translation0.82
    4Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of wt CFTR0.59
    Regulation of degradation of deltaF508 CFTR in CF0.59
    5Gene Expression
    Gene Expression0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SEC61A1
        Cholera Infection

    3 GeneGo (Thomson Reuters) Pathways for SEC61A1
        Immune response Antigen presentation by MHC class I
    Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of wt-CFTR

    2 Reactome Pathways for SEC61A1
        SRP-dependent cotranslational protein targeting to membrane
    ER-Phagosome pathway


    4 Kegg Pathways  (Kegg details for SEC61A1):
        Protein export
    Protein processing in endoplasmic reticulum
    Phagosome
    Vibrio cholerae infection


    SEC61A1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SEC61A1
    Interactions:

        Search GeneGlobe Interaction Network for SEC61A1

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

    Selected Interacting proteins for SEC61A1 (P616191, 2, 3 ENSP000002432534) via UniProtKB, MINT, STRING, and/or I2D (see all 289)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CANXP278241, 2EBI-358919,EBI-355947 MINT-8381470 MINT-8381530 MINT-8381559
    HSPA5P110211, 3, ENSP000003241734EBI-358919,EBI-354921 I2D: score=1 STRING: ENSP00000324173
    RPL12P300502, 3MINT-8381470 I2D: score=2 
    TNFRSF1AP194382, 3MINT-49358 I2D: score=2 
    TNFRSF1BP203332, 3MINT-49451 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0002479antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS--
    GO:0006614SRP-dependent cotranslational protein targeting to membrane IMP--
    GO:0006620posttranslational protein targeting to membrane IMP--
    GO:0007029endoplasmic reticulum organization IMP--

    SEC61A1 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 SEC61A1 (S61A1)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SEC61A1 gene: 
    NM_013336.3  

    Unigene Cluster for SEC61A1:

    Sec61 alpha 1 subunit (S. cerevisiae)
    Hs.518236  [show with all ESTs]
    Unigene Representative Sequence: NM_013336
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000464451 ENST00000243253(uc003ekb.3 uc003ekc.3) ENST00000481210
    ENST00000491668 ENST00000424880(uc003ekd.3) ENST00000483956(uc003ekg.3)
    ENST00000498837
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SEC61A1 (see all 30):
    hsa-miR-3673 hsa-miR-4251 hsa-miR-128 hsa-miR-331-3p hsa-miR-4305 hsa-miR-218 hsa-miR-1184 hsa-miR-2115
    SwitchGear 3'UTR luciferase reporter plasmidSEC61A1 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector: SEC61A1 (NM_013336)
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SEC61A1
      QuantiTect SYBR Green Assays in human, mouse, rat SEC61A1
      QuantiFast Probe-based Assays in human, mouse, rat SEC61A1

    Additional mRNA sequence: 

    AF077032.1 AF084458.1 AF346602.1 AK001689.1 AK027423.1 AK027452.1 AK027454.1 AK027458.1 
    AK074706.1 AK074907.1 AK074928.1 AK075148.1 AK129816.1 AK297239.1 AK299118.1 AL831940.1 
    AL832821.1 BC002951.1 BC029970.2 

    Selected DOTS entries (see all 40):

    DT.100825925  DT.100825917  DT.100825907  DT.100825926  DT.308502  DT.95087490  DT.101985437  DT.120891393 
    DT.95173569  DT.120891460  DT.97821681  DT.97855940  DT.120891343  DT.120891250  DT.120891290  DT.120891450 
    DT.86840489  DT.95173560  DT.95173572  DT.95173581  DT.102838773  DT.120891181  DT.120891441  DT.91774520 

    Selected AceView cDNA sequences (see all 1041):

    CB216606 BM853419 AU141078 BM824577 AI569737 BM824901 BQ430287 BQ226969 
    BM824478 CF541126 CA432040 F05589 BF059753 BP334434 BM742646 BM796107 
    BP340375 AI423898 BM977774 BQ721894 AU124068 CN484776 BQ717445 AU125863 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SEC61A1 (see all 16)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a ·
    SP1:                                -           -                                                                                         -     -     -     -   
    SP2:                                -           -                                                                                         -     -     -     -   
    SP3:                                            -     -     -     -     -     -     -                                                     -     -     -     -   
    SP4:                                                                                                                                            -           -   
    SP5:                                -     -     -                                   -     -     -     -     -     -     -     -     -     -     -     -     -   

    ExUns: 14b ^ 15a · 15b · 15c · 15d ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19
    SP1:                                                                        
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:  -     -     -                                                         


    ECgene alternative splicing isoforms for SEC61A1

    (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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    SEC61A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTCTCCCAC
    SEC61A1 Expression
    About this image


    SEC61A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
     
     Liver (Hepatobiliary System)
    SEC61A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEC61A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.518236
        Custom PCR Arrays for SEC61A1
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC61A1

    (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 SEC61A1 gene from Selected species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sec61a11 , 5 Sec61 alpha 1 subunit (S. cerevisiae)1, 5 90.34(n)1
    100(a)1
      6 (39.51 cM)5
    534211  NM_016906.41  NP_058602.11 
     885036015 
    chicken
    (Gallus gallus)
    Aves SEC61A11 Sec61 alpha 1 subunit (S. cerevisiae) 82.35(n)
    99.16(a)
      416023  XM_414364.3  XP_414364.3 
    lizard
    (Anolis carolinensis)
    Reptilia SEC61A16
    Sec61 alpha 1 subunit (S. cerevisiae)
    100(a)
    1 ↔ 1
    2(165734457-165749810)
    African clawed frog
    (Xenopus laevis)
    Amphibia sec61a1-prov2 protein transport protein SEC61 alpha subunit isoform more 80.46(n)    BC045117.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sec61a2 SEC61, alpha subunit 76.25(n)   192298  AY029527.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sec61alpha3 SRP-dependent, co-translational
    membrane targeting, more
    88(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea Y57G11C.153 protein transport protein SEC61 alpha
    subunit
    84(a)   IV(14823001-14825012)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEC61(YLR378C)4
    SEC611
    Essential subunit of Sec61 complex (Sec61p, Sbh1p, more4
    SEC611
    57.15(n)1
    57.3(a)1
      12(877178-875736)4
    8510951, 4  NP_013482.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G293101 AT1G29310 67.02(n)
    69.16(a)
      839805  NM_102671.4  NP_174225.2 
    rice
    (Oryza sativa)
    Liliopsida AK073633.12   -- 74.46(n)    AK073633.1 


    ENSEMBL Gene Tree for SEC61A1 (if available)
    TreeFam Gene Tree for SEC61A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SEC61A1 gene
    SEC61A22  
    1 SIMAP similar gene for SEC61A1 using alignment to 4 protein entries:     S61A1_HUMAN (see all proteins):
    SEC61A2

    SEC61A1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SEC61A1
    PGOHUM00000232988


    (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 SEC61A1 (see all 472)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1119121781,2
    F--127769245(+) ATGTGC/TTTACA 1 -- us2k13Minor allele frequency- T:0.04CSA WA 120
    rs1471424521,2
    C--127769295(+) CTGTCA/GTCACC 1 -- us2k10--------
    rs1894902681,2
    --127769364(+) AGGGAA/TCCTCC 1 -- us2k10--------
    rs14732461,2
    C,F,A,H--127769408(-) GGTGGT/CGCATG 1 -- us2k19Minor allele frequency- C:0.32NA WA CSA 135
    rs1389209031,2
    C--127769514(+) TTGCCC/TTGGCC 1 -- us2k10--------
    rs15498731,2
    C,F,A--127769599(-) GATTGC/TTTTAG 1 -- us2k17Minor allele frequency- T:0.18NA WA EA 366
    rs1154391361,2
    C,F--127769610(+) AGTGAT/ATTAAC 1 -- us2k11Minor allele frequency- A:0.09WA 118
    rs1429447461,2
    C--127769801(+) ACCCTA/CGAAAT 1 -- us2k10--------
    rs791093941,2
    C,F--127769860(+) ATATCG/AGATCT 1 -- us2k11Minor allele frequency- A:0.01NA 120
    rs1808334331,2
    --127769991(+) AGTCAA/GTGTCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SEC61A1 (127770484 - 127790526 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SEC61A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3991CNV Insertion18451855
    esv2477995CNV Insertion19546169

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SEC61A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SEC61A1

    (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.)
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    OMIM gene information: 609213    OMIM disorders: --

    8 diseases for SEC61A1:    
    About MalaCards
    secretory diarrhea    polycystic liver disease    diarrhea    lynch syndrome
    cholera    cystic fibrosis    liver disease    neuroblastoma

    1 disease from the University of Copenhagen DISEASES database for SEC61A1:
    Polycystic liver disease

    SEC61A1 for disorders           About GeneDecksing


    Export disorders for SEC61A1 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 SEC61A1 gene, integrated from 10 sources (see all 59):
    (articles sorted by number of sources associating them with SEC61A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (J. Proteome Res. 2013)
    3. 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)
    4. Characterization of the EGFR interactome reveals associated protein complex networks and intracellular receptor dynamics. (PubMed id 23956138)1 Foerster S....Ritter C.A. (Proteomics 2013)
    5. Novel, gel-free proteomics approach identifies RNF5 and JAMP as modulators of GPCR stability. (PubMed id 23798571)1 Roy S.J....Parent J.L. (Mol. Endocrinol. 2013)
    6. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    7. TRC40 can deliver short secretory proteins to the Sec61 translocon. (PubMed id 22505607)1 Johnson N....High S. (J. Cell. Sci. 2012)
    8. BiP-mediated closing of the Sec61 channel limits Ca2+ leakage from the ER. (PubMed id 22796945)1 SchAouble N....Zimmermann R. (EMBO J. 2012)
    9. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 JAoger S....Krogan N.J. (Nature 2012)
    10. Different effects of Sec61I+, Sec62 and Sec63 depletion on transport of polypeptides into the endoplasmic reticulum of mammalian cells. (PubMed id 22375059)1 Lang S....Dudek J. (J. Cell. Sci. 2012)

    (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: 29927 HGNC: 18276 AceView: SEC61A1 Ensembl:ENSG00000058262 euGenes: HUgn29927
    ECgene: SEC61A1 Kegg: 29927 H-InvDB: SEC61A1

    (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 SEC61A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SEC61A1 gene:
    Search GeneIP for patents involving SEC61A1

    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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