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    VPS45 vacuolar protein sorting 45 homolog [ Homo sapiens (human) ]

    Gene ID: 11311, updated on 8-Jul-2021

    Summary

    Official Symbol
    VPS45provided by HGNC
    Official Full Name
    vacuolar protein sorting 45 homologprovided by HGNC
    Primary source
    HGNC:HGNC:14579
    See related
    Ensembl:ENSG00000136631 MIM:610035
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    H1; SCN5; VSP45; VPS45A; VPS45B; VPS54A; VSP45A; H1VPS45
    Summary
    Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in brain (RPKM 10.4), adrenal (RPKM 10.2) and 25 other tissues See more
    Orthologs
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    Genomic context

    See VPS45 in Genome Data Viewer
    Location:
    1q21.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (150067279..150145329)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150039439..150117507)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene myotubularin related protein 11 Neighboring gene OTU deubiquitinase 7B Neighboring gene uncharacterized LOC105371427 Neighboring gene ribosomal protein L6 pseudogene Neighboring gene uncharacterized LOC105371433 Neighboring gene pleckstrin homology domain containing O1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study of serum uric acid in African Americans.
    GeneReviews: Not available
    Biological insights from 108 schizophrenia-associated genetic loci.
    GeneReviews: Not available
    Severe congenital neutropenia 5, autosomal recessive
    MedGen: C3809031 OMIM: 615285 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in intracellular protein transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in cellular_component ND
    No biological Data available
    more info
     
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in integral component of membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    vacuolar protein sorting-associated protein 45
    Names
    leucocyte vacuolar protein sorting 45
    vacuolar protein sorting 45A

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_033910.1 RefSeqGene

      Range
      5484..83037
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1170

    mRNA and Protein(s)

    1. NM_001279353.2NP_001266282.1  vacuolar protein sorting-associated protein 45 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple differences in the coding region, compared to variant 1. The resulting isoform (2) is shorter and has a shorter N-terminus, lacks an internal segment and has a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC242988, AK298786, BC028382, BG176899
      Consensus CDS
      CCDS60244.1
      UniProtKB/Swiss-Prot
      Q9NRW7
      UniProtKB/TrEMBL
      B7Z5D4
      Related
      ENSP00000358124.5, ENST00000369128.9
      Conserved Domains (1) summary
      pfam00995
      Location:1434
      Sec1; Sec1 family
    2. NM_001279354.2NP_001266283.1  vacuolar protein sorting-associated protein 45 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate splice site in the 5' region, which results in a downstream translation start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC242988, AK295529, BC028382, DA374440
      Consensus CDS
      CCDS86017.1
      UniProtKB/Swiss-Prot
      Q9NRW7
      UniProtKB/TrEMBL
      B7Z360
      Related
      ENSP00000478403.1, ENST00000611412.4
      Conserved Domains (1) summary
      pfam00995
      Location:1503
      Sec1; Sec1 family
    3. NM_007259.5NP_009190.2  vacuolar protein sorting-associated protein 45 isoform 1

      See identical proteins and their annotated locations for NP_009190.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AW243680, BC028382
      Consensus CDS
      CCDS944.1
      UniProtKB/Swiss-Prot
      Q9NRW7
      Related
      ENSP00000495563.1, ENST00000644510.2
      Conserved Domains (1) summary
      pfam00995
      Location:23539
      Sec1; Sec1 family

    RNA

    1. NR_103998.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two consecutive exons in the 5' region and has an additional exon in the central region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC242988, AK293555, BC012932, BC028382, DA374440
      Related
      ENST00000491789.2

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      150067279..150145329
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452791.1XP_024308559.1  vacuolar protein sorting-associated protein 45 isoform X1

      Related
      ENSP00000495148.1, ENST00000643970.1
      Conserved Domains (1) summary
      pfam00995
      Location:1503
      Sec1; Sec1 family

    RNA

    1. XR_921734.3 RNA Sequence

      Related
      ENST00000642919.1
    2. XR_921733.3 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001279355.1: Suppressed sequence

      Description
      NM_001279355.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
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