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    VPS37A VPS37A subunit of ESCRT-I [ Homo sapiens (human) ]

    Gene ID: 137492, updated on 2-Nov-2024

    Summary

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    Official Symbol
    VPS37Aprovided by HGNC
    Official Full Name
    VPS37A subunit of ESCRT-Iprovided by HGNC
    Primary source
    HGNC:HGNC:24928
    See related
    Ensembl:ENSG00000155975 MIM:609927; AllianceGenome:HGNC:24928
    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
    HCRP1; PQBP2; SPG53
    Summary
    This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
    Expression
    Ubiquitous expression in testis (RPKM 6.8), placenta (RPKM 5.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See VPS37A in Genome Data Viewer
    Location:
    8p22
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (17246958..17333455)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (17514555..17601063)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (17104467..17190964)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986918 Neighboring gene zinc finger DHHC-type palmitoyltransferase 2 Neighboring gene NANOG hESC enhancer GRCh37_chr8:17090642-17091144 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17104115-17104963 Neighboring gene CCR4-NOT transcription complex subunit 7 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102346 Neighboring gene myotubularin related protein 7 Neighboring gene Sharpr-MPRA regulatory region 2048 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:17193352-17194551 Neighboring gene uncharacterized LOC102724838 Neighboring gene Sharpr-MPRA regulatory region 14094 Neighboring gene ADAM metallopeptidase domain 24, pseudogene

    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 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. HCRP1 expression status is a significant prognostic marker in oral and oropharyngeal cancer. Perisanidis C, et al. Oral Dis, 2013 Mar. PMID 22891969
    2. HCRP1, a novel gene that is downregulated in hepatocellular carcinoma, encodes a growth-inhibitory protein. Xu Z, et al. Biochem Biophys Res Commun, 2003 Nov 28. PMID 14623289
    3. hVps37A Status affects prognosis and cetuximab sensitivity in ovarian cancer. Wittinger M, et al. Clin Cancer Res, 2011 Dec 15. PMID 22016507
    4. HCRP1 regulates proliferation, invasion, and drug resistance via EGFR signaling in prostate cancer. Sun L, et al. Biomed Pharmacother, 2017 Jul. PMID 28458158
    5. HCRP1 downregulation confers poor prognosis and induces chemoresistance through regulation of EGFR-AKT pathway in human gastric cancer. Xu H, et al. Virchows Arch, 2017 Dec. PMID 28963677

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The VPS37A coordinates the recruitment of a unique set of ESCRT machinery components for phagophore closure in mammalian cells.
      Title: VPS37A directs ESCRT recruitment for phagophore closure.
    2. HCRP-1 regulates EGFR-AKT-BIM-mediated anoikis resistance and serves as a prognostic marker in human colon cancer.
      Title: HCRP-1 regulates EGFR-AKT-BIM-mediated anoikis resistance and serves as a prognostic marker in human colon cancer.
    3. HCRP1 is a negative regulator in prostate cancer progression, metastasis and multi-drug resistance.
      Title: HCRP1 regulates proliferation, invasion, and drug resistance via EGFR signaling in prostate cancer.
    4. this study identifies HCRP1 downregulation correlates with tumor stage, nodal metastasis, and poor patient survival in human gastric cancer
      Title: HCRP1 downregulation confers poor prognosis and induces chemoresistance through regulation of EGFR-AKT pathway in human gastric cancer.
    5. The present data indicate that HCRP1 inhibits breast cancer metastasis through downregulating EGFR phosphorylation.
      Title: Decreased HCRP1 promotes breast cancer metastasis by enhancing EGFR phosphorylation.
    6. Low HCRP1 expression was found to be of adverse prognostic significance in patients with oral and oropharyngeal squamous cell carcinoma who received preoperative chemoradiotherapy
      Title: HCRP1 expression status is a significant prognostic marker in oral and oropharyngeal cancer.
    7. The missense mutation c.1146A>T in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.
      Title: A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.
    8. Data show hVps37A mRNA downregulation in ovarian cancer.
      Title: hVps37A Status affects prognosis and cetuximab sensitivity in ovarian cancer.
    9. HCRP1 is a subunit of mammalian ESCRT-I, and its function is essential for lysosomal sorting of EGF receptors.
      Title: The growth-regulatory protein HCRP1/hVps37A is a subunit of mammalian ESCRT-I and mediates receptor down-regulation.
    10. Our results strongly suggest that HCRP1 might be a growth inhibitory protein and associated with decreasing the invasion of HCC cells
      Title: HCRP1, a novel gene that is downregulated in hepatocellular carcinoma, encodes a growth-inhibitory protein.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hereditary spastic paraplegia 53
    MedGen: C3539494 OMIM: 614898 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    p6 gag ESCRT-I complexes contain three common subunits (TSG101, VPS28, and VPS37), and a fourth subunit MVB12. Recombinant ESCRT-I complexes bind HIV-1 p6 PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • FLJ32642, FLJ42616

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endosome membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    vacuolar protein sorting-associated protein 37A
    Names
    ESCRT-I complex subunit VPS37A
    VPS37A, ESCRT-I subunit
    hepatocellular carcinoma-related protein 1
    polyglutamine binding protein 2
    vacuolar protein sorting 37 homolog A

    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_032996.2 RefSeqGene

      Range
      5067..56133
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145152.2 → NP_001138624.1  vacuolar protein sorting-associated protein 37A isoform 2

      See identical proteins and their annotated locations for NP_001138624.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region compared to variant 1. The encoded isoform (2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC091050, AC124074, AF547097
      Consensus CDS
      CCDS47811.1
      UniProtKB/Swiss-Prot
      Q8NEZ2
      Related
      ENSP00000429680.1, ENST00000521829.5
      Conserved Domains (1) summary
      pfam07200
      Location:210 → 351
      Mod_r; Modifier of rudimentary (Mod(r)) protein

    2. NM_001363167.1 → NP_001350096.1  vacuolar protein sorting-associated protein 37A isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC124074, AY033079, BX110612, DB034154
      Conserved Domains (1) summary
      pfam07200
      Location:235 → 373
      Mod_r; Modifier of rudimentary (Mod(r)) protein

    3. NM_001363168.1 → NP_001350097.1  vacuolar protein sorting-associated protein 37A isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC124074, AY033079, DB034154, DB171373
      Conserved Domains (1) summary
      pfam07200
      Location:145 → 289
      Mod_r; Modifier of rudimentary (Mod(r)) protein

    4. NM_001363169.1 → NP_001350098.1  vacuolar protein sorting-associated protein 37A isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC124074, AY033079, BG701573, DB034154, DB171373
      Conserved Domains (1) summary
      pfam07200
      Location:145 → 289
      Mod_r; Modifier of rudimentary (Mod(r)) protein

    5. NM_001363170.1 → NP_001350099.1  vacuolar protein sorting-associated protein 37A isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC124074, AY033079, BX110612, DB034154, DB171373
      Conserved Domains (1) summary
      pfam07200
      Location:145 → 283
      Mod_r; Modifier of rudimentary (Mod(r)) protein

    6. NM_001363171.1 → NP_001350100.1  vacuolar protein sorting-associated protein 37A isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC124074, AY033079, BX110612, DB055795, DB171373
      Conserved Domains (1) summary
      pfam07200
      Location:145 → 283
      Mod_r; Modifier of rudimentary (Mod(r)) protein

    7. NM_001363172.2 → NP_001350101.1  vacuolar protein sorting-associated protein 37A isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC091050, AC124074, AC142097
      Conserved Domains (1) summary
      pfam07200
      Location:145 → 283
      Mod_r; Modifier of rudimentary (Mod(r)) protein

    8. NM_001363173.2 → NP_001350102.1  vacuolar protein sorting-associated protein 37A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC091050, AC124074, AC142097
      Consensus CDS
      CCDS6001.1
      UniProtKB/Swiss-Prot
      Q336D5, Q6NW27, Q8N3D7, Q8NEZ2, Q8TBL7, Q96DL9
      Conserved Domains (1) summary
      pfam07200
      Location:235 → 379
      Mod_r; Modifier of rudimentary (Mod(r)) protein

    9. NM_152415.3 → NP_689628.2  vacuolar protein sorting-associated protein 37A isoform 1

      See identical proteins and their annotated locations for NP_689628.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC091050, AC124074, AY033079
      Consensus CDS
      CCDS6001.1
      UniProtKB/Swiss-Prot
      Q336D5, Q6NW27, Q8N3D7, Q8NEZ2, Q8TBL7, Q96DL9
      Related
      ENSP00000318629.4, ENST00000324849.9
      Conserved Domains (1) summary
      pfam07200
      Location:235 → 379
      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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      17246958..17333455
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421354.1 → XP_047277310.1  vacuolar protein sorting-associated protein 37A isoform X2

    2. XM_017013021.3 → XP_016868510.1  vacuolar protein sorting-associated protein 37A isoform X1

      UniProtKB/Swiss-Prot
      Q336D5, Q6NW27, Q8N3D7, Q8NEZ2, Q8TBL7, Q96DL9
      Conserved Domains (1) summary
      pfam07200
      Location:235 → 379
      Mod_r; Modifier of rudimentary (Mod(r)) protein

    3. XM_047421355.1 → XP_047277311.1  vacuolar protein sorting-associated protein 37A isoform X3

    RNA

    1. XR_007060695.1 RNA Sequence

    2. XR_007060696.1 RNA Sequence

    3. XR_007060697.1 RNA Sequence

    4. XR_007060700.1 RNA Sequence

    5. XR_007060699.1 RNA Sequence

    6. XR_007060698.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      17514555..17601063
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359748.1 → XP_054215723.1  vacuolar protein sorting-associated protein 37A isoform X2

    2. XM_054359747.1 → XP_054215722.1  vacuolar protein sorting-associated protein 37A isoform X1

      UniProtKB/Swiss-Prot
      Q336D5, Q6NW27, Q8N3D7, Q8NEZ2, Q8TBL7, Q96DL9

    3. XM_054359749.1 → XP_054215724.1  vacuolar protein sorting-associated protein 37A isoform X3

    RNA

    1. XR_008487802.1 RNA Sequence

    2. XR_008487803.1 RNA Sequence

    3. XR_008487804.1 RNA Sequence

    4. XR_008487807.1 RNA Sequence

    5. XR_008487805.1 RNA Sequence

    6. XR_008487806.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NEZ2.1 GenPept UniProtKB/Swiss-Prot:Q8NEZ2

    Gene LinkOut

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

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