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

Summary

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

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
Data show hVps37A mRNA downregulation in ovarian cancer.
Title: hVps37A Status affects prognosis and cetuximab sensitivity in ovarian cancer.
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.
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	Compare labs

EBI GWAS Catalog

Description
Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH99119 (e-PCR)
- UniSTS:89141

A008M23 (e-PCR)
- UniSTS:35155

RH40514 (e-PCR)
- UniSTS:88665

PMC310830P26 (e-PCR)
- UniSTS:272769

PMC310830P27 (e-PCR)
- UniSTS:272770

G32551 (e-PCR)
- UniSTS:117135

A009H32 (e-PCR)
- UniSTS:48112

STS-H02020 (e-PCR)
- UniSTS:46072

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

NG_032996.2 RefSeqGene

Range

5067..56133

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

17246958..17333455

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047421354.1 → XP_047277310.1 vacuolar protein sorting-associated protein 37A isoform X2
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
XM_047421355.1 → XP_047277311.1 vacuolar protein sorting-associated protein 37A isoform X3

RNA

XR_007060695.1 RNA Sequence
XR_007060696.1 RNA Sequence
XR_007060697.1 RNA Sequence
XR_007060700.1 RNA Sequence
XR_007060699.1 RNA Sequence
XR_007060698.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

17514555..17601063

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054359748.1 → XP_054215723.1 vacuolar protein sorting-associated protein 37A isoform X2
XM_054359747.1 → XP_054215722.1 vacuolar protein sorting-associated protein 37A isoform X1

UniProtKB/Swiss-Prot

Q336D5, Q6NW27, Q8N3D7, Q8NEZ2, Q8TBL7, Q96DL9
XM_054359749.1 → XP_054215724.1 vacuolar protein sorting-associated protein 37A isoform X3