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

Gene ID: 137492, updated on 5-Mar-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
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Genomic context

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Location:
8p22
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (17246958..17333455)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (17514555..17601063)
105.20220307 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
  • 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. HCRP-1 regulates EGFR-AKT-BIM-mediated anoikis resistance and serves as a prognostic marker in human colon cancer. Chen F, et al. Cell Death Dis, 2018 Dec 5. PMID 30518879, Free PMC Article
  2. 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
  3. HCRP1 regulates proliferation, invasion, and drug resistance via EGFR signaling in prostate cancer. Sun L, et al. Biomed Pharmacother, 2017 Jul. PMID 28458158
  4. HCRP1 expression status is a significant prognostic marker in oral and oropharyngeal cancer. Perisanidis C, et al. Oral Dis, 2013 Mar. PMID 22891969
  5. hVps37A Status affects prognosis and cetuximab sensitivity in ovarian cancer. Wittinger M, et al. Clin Cancer Res, 2011 Dec 15. PMID 22016507

See all (59) 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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
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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)

Genotypes

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_2023_10

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

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