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    VPS37C VPS37C subunit of ESCRT-I [ Homo sapiens (human) ]

    Gene ID: 55048, updated on 27-Nov-2024

    Summary

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    Official Symbol
    VPS37Cprovided by HGNC
    Official Full Name
    VPS37C subunit of ESCRT-Iprovided by HGNC
    Primary source
    HGNC:HGNC:26097
    See related
    Ensembl:ENSG00000167987 MIM:610038; AllianceGenome:HGNC:26097
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    VPS37C is a subunit of ESCRT-I (endosomal sorting complex required for transport I), a complex in the class E vacuolar protein sorting (VPS) pathway required for sorting ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies (Eastman et al., 2005 [PubMed 15509564]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in prostate (RPKM 9.4), placenta (RPKM 8.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See VPS37C in Genome Data Viewer
    Location:
    11q12.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (61130257..61161426, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (61081750..61112918, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (60897729..60928898, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369325 Neighboring gene uncharacterized LOC124902677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:60859431-60860393 Neighboring gene CD5 molecule Neighboring gene Sharpr-MPRA regulatory region 3147/8872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:60902229-60902744 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:60902745-60903260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:60904582-60905082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:60905083-60905583 Neighboring gene H3K27ac hESC enhancers GRCh37_chr11:60928361-60928954 and GRCh37_chr11:60928955-60929547 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:60933107-60933784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3386 Neighboring gene uncharacterized LOC124902678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:60960971-60961472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:60961473-60961972 Neighboring gene pepsinogen A3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. VPS37C facilitates erythroid differentiation by promoting EKLF stability. Lu Y, et al. Biochem Biophys Res Commun, 2023 Sep 3. PMID 37307706
    2. Identification of human VPS37C, a component of endosomal sorting complex required for transport-I important for viral budding. Eastman SW, et al. J Biol Chem, 2005 Jan 7. PMID 15509564
    3. The molecular basis for selective assembly of the UBAP1-containing endosome-specific ESCRT-I complex. Wunderley L, et al. J Cell Sci, 2014 Feb 1. PMID 24284069, Free PMC Article
    4. VPS37 isoforms differentially modulate the ternary complex formation of ALIX, ALG-2, and ESCRT-I. Okumura M, et al. Biosci Biotechnol Biochem, 2013. PMID 23924735
    5. A helical assembly of human ESCRT-I scaffolds reverse-topology membrane scission. Flower TG, et al. Nat Struct Mol Biol, 2020 Jun. PMID 32424346, Free PMC Article

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. VPS37C facilitates erythroid differentiation by promoting EKLF stability.
      Title: VPS37C facilitates erythroid differentiation by promoting EKLF stability.
    2. VPS37B and appeared to interact with ALG-2 in a stronger manner than TSG101 does
      Title: VPS37 isoforms differentially modulate the ternary complex formation of ALIX, ALG-2, and ESCRT-I.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    5. VPS37C as a functional component of mammalian endosomal sorting complex required for transport-I
      Title: Identification of human VPS37C, a component of endosomal sorting complex required for transport-I important for viral budding.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20847

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in macroautophagy TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in membrane fission NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in multivesicular body assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in multivesicular body assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein targeting to membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein targeting to vacuole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in viral budding via host ESCRT complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of ESCRT I complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ESCRT I complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ESCRT I complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of ESCRT I complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of ESCRT I complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in endosome membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    vacuolar protein sorting-associated protein 37C
    Names
    ESCRT-I complex subunit VPS37C
    VPS37C, ESCRT-I subunit
    hVps37C
    vacuolar protein sorting 37 homolog C
    vacuolar protein sorting 37C

    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.

    mRNA and Protein(s)

    1. NM_017966.5 → NP_060436.4  vacuolar protein sorting-associated protein 37C

      See identical proteins and their annotated locations for NP_060436.4

      Status: VALIDATED

      Source sequence(s)
      AL834261, BM450171
      Consensus CDS
      CCDS31573.1
      UniProtKB/Swiss-Prot
      A5D8V6, Q8N3K4
      UniProtKB/TrEMBL
      B4DYD9
      Related
      ENSP00000301765.5, ENST00000301765.10
      Conserved Domains (1) summary
      pfam07200
      Location:5 → 146
      Mod_r; Modifier of rudimentary (Mod(r)) protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      61130257..61161426 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427178.1 → XP_047283134.1  vacuolar protein sorting-associated protein 37C isoform X2

    2. XM_005274077.4 → XP_005274134.1  vacuolar protein sorting-associated protein 37C isoform X1

      See identical proteins and their annotated locations for XP_005274134.1

      UniProtKB/Swiss-Prot
      A5D8V6, Q8N3K4
      UniProtKB/TrEMBL
      B4DYD9
      Conserved Domains (1) summary
      pfam07200
      Location:5 → 146
      Mod_r; Modifier of rudimentary (Mod(r)) protein

    3. XM_047427179.1 → XP_047283135.1  vacuolar protein sorting-associated protein 37C isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      61081750..61112918 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369224.1 → XP_054225199.1  vacuolar protein sorting-associated protein 37C isoform X2

    2. XM_054369223.1 → XP_054225198.1  vacuolar protein sorting-associated protein 37C isoform X1

    3. XM_054369225.1 → XP_054225200.1  vacuolar protein sorting-associated protein 37C isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A5D8V6.2 GenPept UniProtKB/Swiss-Prot:A5D8V6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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