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

Gene ID: 137492, updated on 1-Jun-2020

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
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

Genomic context

See VPS37A in Genome Data Viewer
Location:
8p22
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (17246892..17333455)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (17104401..17155533)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986918 Neighboring gene ribosomal protein L9 pseudogene 20 Neighboring gene zinc finger DHHC-type palmitoyltransferase 2 Neighboring gene CCR4-NOT transcription complex subunit 7 Neighboring gene myotubularin related protein 7 Neighboring gene uncharacterized LOC102724838 Neighboring gene ADAM metallopeptidase domain 24, pseudogene

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
Spastic paraplegia 53, autosomal recessive
MedGen: C3539494 OMIM: 614898 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32642, FLJ42616

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
ESCRT I complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ESCRT I complex IDA
Inferred from Direct Assay
more info
PubMed 
ESCRT I complex TAS
Traceable Author Statement
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
endosome membrane TAS
Traceable Author Statement
more info
 
host cell IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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)

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_001145152.1NP_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:210351
    Mod_r; Modifier of rudimentary (Mod(r)) protein
  2. NM_001363167.1NP_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:235373
    Mod_r; Modifier of rudimentary (Mod(r)) protein
  3. NM_001363168.1NP_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:145289
    Mod_r; Modifier of rudimentary (Mod(r)) protein
  4. NM_001363169.1NP_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:145289
    Mod_r; Modifier of rudimentary (Mod(r)) protein
  5. NM_001363170.1NP_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:145283
    Mod_r; Modifier of rudimentary (Mod(r)) protein
  6. NM_001363171.1NP_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:145283
    Mod_r; Modifier of rudimentary (Mod(r)) protein
  7. NM_001363172.2NP_001350101.1  vacuolar protein sorting-associated protein 37A isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC091050, AC124074, AC142097
    Conserved Domains (1) summary
    pfam07200
    Location:145283
    Mod_r; Modifier of rudimentary (Mod(r)) protein
  8. NM_001363173.2NP_001350102.1  vacuolar protein sorting-associated protein 37A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC091050, AC124074, AC142097
    Consensus CDS
    CCDS6001.1
    Conserved Domains (1) summary
    pfam07200
    Location:235379
    Mod_r; Modifier of rudimentary (Mod(r)) protein
  9. NM_152415.3NP_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
    Q8NEZ2
    Related
    ENSP00000318629.4, ENST00000324849.9
    Conserved Domains (1) summary
    pfam07200
    Location:235379
    Mod_r; Modifier of rudimentary (Mod(r)) protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    17246892..17333455
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q8NEZ2
    Conserved Domains (1) summary
    pfam07200
    Location:235379
    Mod_r; Modifier of rudimentary (Mod(r)) protein

RNA

  1. XR_002956594.1 RNA Sequence

  2. XR_002956596.1 RNA Sequence

  3. XR_002956598.1 RNA Sequence

  4. XR_002956595.1 RNA Sequence

  5. XR_002956593.1 RNA Sequence

  6. XR_002956597.1 RNA Sequence

  7. XR_002956599.1 RNA Sequence

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