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ENSG00000236014 Gene

protein-coding   GIFtS: 14
GCID: GC06Mo33357          (predicted)

ENSG00000236014


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(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
SACM2L3
SAC2 Suppressor Of Actin Mutations 2-Like Protein3

External Ids:    Ensembl: ENSG000002360147   UniProtKB: Q8N1B43   

Export aliases for ENSG00000236014 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ENSG00000236014 Gene:
ENSG00000236014 is a protein-coding gene.

UniProtKB/Swiss-Prot: VPS52_HUMAN, Q8N1B4
Function: May be involved in retrograde transport of early and late endosomes to the late Golgi. The GARP complex
is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes,
this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD




(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for ENSG00000236014
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ENSG00000236014

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENSG00000236014


Genomic Location:
Chromosome:6   

Ensembl cytogenetic band:  HSCHR6_MHC_SSTOp21.32   

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06Mo33357:       (about GC identifiers)

Start:
33,357,416 bp from start of contig ALT_REF_LOCI_7      End:
33,379,168 bp from start of contig ALT_REF_LOCI_7
Size:
21,753 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: VPS52_HUMAN, Q8N1B4 (See protein sequence)
Recommended Name: Vacuolar protein sorting-associated protein 52 homolog  
Size: 723 amino acids; 82221 Da
Subunit: Component of the Golgi-associated retrograde protein (GARP) complex, also called VFT (VPS fifty-three)
complex, composed of VPS51, VPS52, VPS53 and VPS54. Interacts with RAB6A and STX10
Sequence caution: Sequence=CAI95619.1; Type=Erroneous gene model prediction;
Secondary accessions: A2BF38 B0UZZ4 Q53GR4 Q5JPA0 Q5SQW1 Q8IUN6 Q9NPT5

Explore the universe of human proteins at neXtProt for ENSG00000236014: NX_Q8N1B4

Explore proteomics data for ENSG00000236014 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ENSG00000236014 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000406988   ENSP00000434319  

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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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    1 InterPro protein domain:
     IPR007258 Vps52

    Graphical View of Domain Structure for InterPro Entry Q8N1B4

    ProtoNet protein and cluster: Q8N1B4

    UniProtKB/Swiss-Prot: VPS52_HUMAN, Q8N1B4
    Similarity: Belongs to the VPS52 family


    Find genes that share domains with ENSG00000236014           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: VPS52_HUMAN, Q8N1B4
    Function: May be involved in retrograde transport of early and late endosomes to the late Golgi. The GARP complex
    is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes,
    this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with ENSG00000236014           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ENSG00000236014

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    (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
    VPS52_HUMAN, Q8N1B4: Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Endosome
    membrane; Peripheral membrane protein

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus ----
    GO:0010008endosome membrane ----

    Find genes that share ontologies with ENSG00000236014           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ENSG00000236014
    Interactions:

        Search GeneGlobe Interaction Network for ENSG00000236014

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

    Selected Interacting proteins for ENSG00000236014 (Q8N1B42, 3 ENSP000004069884) via UniProtKB, MINT, STRING, and/or I2D (see all 79)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VPS53Q5VIR63, ENSP000004014354I2D: score=8 STRING: ENSP00000401435
    COG3Q96JB23, ENSP000002586544I2D: score=4 STRING: ENSP00000258654
    RAB6BQ9NRW13, ENSP000002852084I2D: score=2 STRING: ENSP00000285208
    TMEM30BQ3MIR43, ENSP000003479304I2D: score=1 STRING: ENSP00000347930
    RAB6AP203403, ENSP000003114494I2D: score=2 STRING: ENSP00000311449
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010668ectodermal cell differentiation ----
    GO:0015031protein transport ----
    GO:0048611embryonic ectodermal digestive tract development ----

    Find genes that share ontologies with ENSG00000236014           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 Tocris compounds for ENSG00000236014 (VPS52)



    (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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    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000428608(uc011juq.2 uc011juu.1) ENST00000484649(uc011jur.2)
    ENST00000476725(uc011jus.1) ENST00000487764 ENST00000473365 ENST00000475984
    ENST00000466566 ENST00000484169 ENST00000463641 ENST00000485847 ENST00000494064

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    GeneLoc Exon Structure


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

    ENSG00000236014 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ENSG00000236014 Protein Expression
        Custom PCR Arrays for ENSG00000236014
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    In Situ
    Assay Products:
     

     
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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)
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      --

    ENSEMBL Gene Tree for ENSG00000236014 (if available)
    TreeFam Gene Tree for ENSG00000236014 (if available)

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ENSG00000236014

    (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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      --

    (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 ENSG00000236014 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ENSG00000236014)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)
    2. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    4. Ang2/fat-free is a conserved subunit of the Golgi-associated retrograde protein complex. (PubMed id 20685960)2 Perez-Victoria F.J.... Bonifacino J.S. (Mol. Biol. Cell 2010)
    5. Requirement of the human GARP complex for mannose 6-phosphate- receptor-dependent sorting of cathepsin D to lysosomes. (PubMed id 18367545)2 Perez-Victoria F.J.... Bonifacino J.S. (Mol. Biol. Cell 2008)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    7. Characterization of the human GARP (Golgi associated retrograde protein) complex. (PubMed id 15878329)2 Liewen H.... Stenner-Liewen F. (Exp. Cell Res. 2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (Nature 2003)
    10. (PubMed id )2 

    (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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    Ensembl:ENSG00000236014

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ENSG00000236014 gene:
    Search GeneIP for patents involving ENSG00000236014

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ENSG00000236014 gene at Home site.
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