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

Gene ID: 137492, updated on 14-Jun-2018
Official Symbol
VPS37Aprovided by HGNC
Official Full Name
VPS37A, ESCRT-I subunitprovided by HGNC
Primary source
HGNC:HGNC:24928
See related
Ensembl:ENSG00000155975 MIM:609927; Vega:OTTHUMG00000130785
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
See VPS37A in Genome Data Viewer
Location:
8p22
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (17246892..17333532)
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 containing 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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

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

  • Assembly Of The HIV Virion, organism-specific biosystem (from REACTOME)
    Assembly Of The HIV Virion, organism-specific biosystemVirion assembly packages all the components required for infectivity. These steps include two copies of the positive sense genomic viral RNA, cellular tRNALys, the viral envelope (Env) protein, the G...
  • Budding and maturation of HIV virion, organism-specific biosystem (from REACTOME)
    Budding and maturation of HIV virion, organism-specific biosystemWith the virus components precariously assembled on the inner leaflet of the plasma membrane, the host cell machinery is required for viral budding. The virus takes advantage of the host ESCRT pathwa...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • ESCRT-I complex, organism-specific biosystem (from KEGG)
    ESCRT-I complex, organism-specific biosystemStructural complex; Genetic information processing; Protein processing
  • ESCRT-I complex, conserved biosystem (from KEGG)
    ESCRT-I complex, conserved biosystemStructural complex; Genetic information processing; Protein processing
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endosomal Sorting Complex Required For Transport (ESCRT), organism-specific biosystem (from REACTOME)
    Endosomal Sorting Complex Required For Transport (ESCRT), organism-specific biosystemMany plasma membrane proteins are in a constant flux throughout the internal trafficking pathways of the cell. Some receptors are continuously internalized into recycling endosomes and returned to th...
  • HIV Infection, organism-specific biosystem (from REACTOME)
    HIV Infection, organism-specific biosystemThe global pandemic of Human Immunodeficiency Virus (HIV) infection has resulted in tens of millions of people infected by the virus and millions more affected. UNAIDS estimates around 40 million ...
  • HIV Life Cycle, organism-specific biosystem (from REACTOME)
    HIV Life Cycle, organism-specific biosystemThe life cycle of HIV-1 is divided into early and late phases, shown schematically in the figure. In the early phase, an HIV-1 virion binds to receptors and co-receptors on the human host cell surfac...
  • Infectious disease, organism-specific biosystem (from REACTOME)
    Infectious disease, organism-specific biosystem
    Infectious disease
  • Late Phase of HIV Life Cycle, organism-specific biosystem (from REACTOME)
    Late Phase of HIV Life Cycle, organism-specific biosystemThe late phase of the HIV-1 life cycle includes the regulated expression of the HIV gene products and the assembly of viral particles. The assembly of viral particles will be covered in a later relea...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Membrane binding and targetting of GAG proteins, organism-specific biosystem (from REACTOME)
    Membrane binding and targetting of GAG proteins, organism-specific biosystemOne of the mysteries of Gag protein involvement in HIV virion assembly is how the proteins are targeted to the proper membrane for budding. Infectious retroviruses do not bud from all of the availabl...
  • Synthesis And Processing Of GAG, GAGPOL Polyproteins, organism-specific biosystem (from REACTOME)
    Synthesis And Processing Of GAG, GAGPOL Polyproteins, organism-specific biosystemEvidence suggests that the RNA molecules used for the synthesis of Gag and Gag-Pro-Pol are not the same molecules that are packaged into virions. Gag proteins do not appear to aggregate around and ca...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
Products Interactant Other Gene Complex Source Pubs Description

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

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_032996.1 RefSeqGene

    Range
    5001..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, OTTHUMP00000225268, ENST00000521829.5, OTTHUMT00000376190
    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_001363172.1NP_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_001363173.1NP_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_152415.2NP_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, OTTHUMP00000161346, ENST00000324849.8, OTTHUMT00000253301
    Conserved Domains (1) summary
    pfam07200
    Location:235379
    Mod_r; Modifier of rudimentary (Mod(r)) protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    17246892..17333532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013025.1XP_016868514.1  vacuolar protein sorting-associated protein 37A isoform X4

    Conserved Domains (1) summary
    pfam07200
    Location:145283
    Mod_r; Modifier of rudimentary (Mod(r)) protein
  2. XM_017013022.1XP_016868511.1  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
  3. 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
  4. XM_005273400.2XP_005273457.1  vacuolar protein sorting-associated protein 37A isoform X3

    Conserved Domains (1) summary
    pfam07200
    Location:145289
    Mod_r; Modifier of rudimentary (Mod(r)) protein
  5. XM_017013023.1XP_016868512.1  vacuolar protein sorting-associated protein 37A isoform X4

    Conserved Domains (1) summary
    pfam07200
    Location:145283
    Mod_r; Modifier of rudimentary (Mod(r)) protein
  6. XM_006716286.1XP_006716349.1  vacuolar protein sorting-associated protein 37A isoform X2

    Conserved Domains (1) summary
    pfam07200
    Location:235373
    Mod_r; Modifier of rudimentary (Mod(r)) protein
  7. XM_005273401.2XP_005273458.1  vacuolar protein sorting-associated protein 37A isoform X3

    Conserved Domains (1) summary
    pfam07200
    Location:145289
    Mod_r; Modifier of rudimentary (Mod(r)) protein
  8. XM_017013024.1XP_016868513.1  vacuolar protein sorting-associated protein 37A isoform X4

    Conserved Domains (1) summary
    pfam07200
    Location:145283
    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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