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    Vps39 VPS39 HOPS complex subunit [ Mus musculus (house mouse) ]

    Gene ID: 269338, updated on 11-Apr-2024

    Summary

    Official Symbol
    Vps39provided by MGI
    Official Full Name
    VPS39 HOPS complex subunitprovided by MGI
    Primary source
    MGI:MGI:2443189
    See related
    Ensembl:ENSMUSG00000027291 AllianceGenome:MGI:2443189
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Vam6; Vam6P; mVam6; A230065P22Rik
    Summary
    Predicted to be involved in endocytic recycling; lysosomal transport; and vesicle fusion. Predicted to act upstream of or within protein transport. Part of AP-3 adaptor complex. Is expressed in several structures, including brain; genitourinary system; gut; quadriceps femoris muscle; and trigeminal nerve. Orthologous to human VPS39 (VPS39 subunit of HOPS complex). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 15.5), whole brain E14.5 (RPKM 15.5) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    2 E5; 2 60.31 cM
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (120146942..120183618, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (120316461..120353142, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 52560 Neighboring gene phospholipase A2, group IVD Neighboring gene phospholipase A2, group IVF Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:120178706-120178815 Neighboring gene transmembrane protein 87A Neighboring gene STARR-positive B cell enhancer ABC_E10133 Neighboring gene STARR-positive B cell enhancer ABC_E9071 Neighboring gene glucosidase, alpha; neutral C Neighboring gene RIKEN cDNA 4931402G19 gene Neighboring gene calpain 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in autophagosome-lysosome fusion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in autophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in autophagy ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in endocytic recycling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in endosomal vesicle fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endosomal vesicle fusion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in endosome to lysosome transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in late endosome to lysosome transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of AP-3 adaptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of HOPS complex ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in late endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in late endosome membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of lysosomal HOPS complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    vam6/Vps39-like protein
    Names
    vacuolar protein sorting 39

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001363053.1NP_001349982.1  vam6/Vps39-like protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL844608
      UniProtKB/TrEMBL
      Q3URK7, Q8BY36
      Conserved Domains (4) summary
      pfam10366
      Location:426528
      Vps39_1; Vacuolar sorting protein 39 domain 1
      pfam10367
      Location:738846
      Vps39_2; Vacuolar sorting protein 39 domain 2
      cl02434
      Location:46257
      CNH; CNH domain
      cl26078
      Location:627712
      Clathrin; Region in Clathrin and VPS
    2. NM_001363054.1NP_001349983.1  vam6/Vps39-like protein isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL844608
      UniProtKB/TrEMBL
      Q3TC98, Q3URK7, Q8BY36
      Conserved Domains (4) summary
      pfam10366
      Location:325427
      Vps39_1; Vacuolar sorting protein 39 domain 1
      pfam10367
      Location:637744
      Vps39_2; Vacuolar sorting protein 39 domain 2
      cl02434
      Location:2156
      CNH; CNH domain
      cl26078
      Location:526612
      Clathrin; Region in Clathrin and VPS
    3. NM_147153.4NP_671495.1  vam6/Vps39-like protein isoform 1

      See identical proteins and their annotated locations for NP_671495.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB028844, AK140041, AW060607, BM249306
      Consensus CDS
      CCDS38210.1
      UniProtKB/Swiss-Prot
      Q8R5L3, Q922I3
      UniProtKB/TrEMBL
      Q3URK7, Q3USV9, Q8BY36
      Related
      ENSMUSP00000099559.4, ENSMUST00000102501.10
      Conserved Domains (4) summary
      pfam10366
      Location:460562
      Vps39_1; Vacuolar sorting protein 39 domain 1
      pfam10367
      Location:772880
      Vps39_2; Vacuolar sorting protein 39 domain 2
      cl02434
      Location:20291
      CNH; CNH domain
      cl26078
      Location:661746
      Clathrin; Region in Clathrin and VPS
    4. NM_178851.4NP_849182.1  vam6/Vps39-like protein isoform 2

      See identical proteins and their annotated locations for NP_849182.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AB028844, AK038824, AK140041, AW060607, BM249306, BY125125
      Consensus CDS
      CCDS16619.1
      UniProtKB/TrEMBL
      Q3URK7, Q5KU38, Q8BY36
      Related
      ENSMUSP00000028752.8, ENSMUST00000028752.8
      Conserved Domains (4) summary
      pfam10366
      Location:449551
      Vps39_1; Vacuolar sorting protein 39 domain 1
      pfam10367
      Location:761869
      Vps39_2; Vacuolar sorting protein 39 domain 2
      cl02434
      Location:20280
      CNH; CNH domain
      cl26078
      Location:588735
      Clathrin; Region in Clathrin and VPS

    RNA

    1. NR_027618.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon and contains another alternate exon compared to variant 1. The second alternate exon causes a frameshift such that the protein is severely truncated at the C-terminus. This transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is therefore not thought to encode a protein.
      Source sequence(s)
      AB028844, AK140041, AW060607, BB655861, BM249306, BY125125
      Related
      ENSMUST00000129857.8

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      120146942..120183618 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030251658.1XP_030107518.1  vam6/Vps39-like protein isoform X1

      Conserved Domains (3) summary
      pfam10366
      Location:81183
      Vps39_1; Vacuolar sorting protein 39 domain 1
      pfam10367
      Location:393501
      Vps39_2; Vacuolar sorting protein 39 domain 2
      cl26078
      Location:282367
      Clathrin; Region in Clathrin and VPS