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VPS33A VPS33A core subunit of CORVET and HOPS complexes [ Homo sapiens (human) ]

Gene ID: 65082, updated on 17-Jun-2019

Summary

Official Symbol
VPS33Aprovided by HGNC
Official Full Name
VPS33A core subunit of CORVET and HOPS complexesprovided by HGNC
Primary source
HGNC:HGNC:18179
See related
Ensembl:ENSG00000139719 MIM:610034
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
MPSPS
Summary
This gene encodes a tethering protein and a core subunit of the homotypic fusion and protein sorting (HOPS) complex. The HOPS complex and a second endosomal tethering complex called the class C core vacuole/endosome tethering (CORVET) complex, perform diverse functions in endocytosis including membrane tethering, RabGTPase interaction, activation and proofreading of synaptic-soluble N-ethylmaleimide-sensitive factor attachment receptor (SNARE) assembly to drive membrane fusion, and endosome-to-cytoskeleton attachment. The HOPS complex controls endosome maturation as well as endosome traffic to the lysosome. This complex is essential for vacuolar fusion and is required for adaptor protein complex 3-dependent transport from the golgi to the vacuole. The encoded protein belongs to the Sec1/Munc18 (SM) family of SNARE-mediated membrane fusion regulators. Naturally occurring mutations in this gene are associated with a novel mucopolysaccharidosis-like disease. [provided by RefSeq, Apr 2017]
Expression
Ubiquitous expression in testis (RPKM 14.4), lymph node (RPKM 7.8) and 25 other tissues See more
Orthologs

Genomic context

See VPS33A in Genome Data Viewer
Location:
12q24.31
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (122229564..122266494, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (122714111..122751068, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene diablo IAP-binding mitochondrial protein Neighboring gene Sharpr-MPRA regulatory region 2179 Neighboring gene uncharacterized LOC101593348 Neighboring gene CAP-Gly domain containing linker protein 1 Neighboring gene coiled-coil domain containing 150 pseudogene 1 Neighboring gene ribosomal protein L21 pseudogene 1

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 FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: DIABLO

Homology

Clone Names

  • FLJ22395, FLJ23187

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
autophagosome maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
endosome to lysosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
lysosome localization IDA
Inferred from Direct Assay
more info
PubMed 
melanosome localization IDA
Inferred from Direct Assay
more info
PubMed 
platelet formation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of developmental pigmentation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of lysosomal lumen pH IMP
Inferred from Mutant Phenotype
more info
PubMed 
vesicle docking involved in exocytosis IEA
Inferred from Electronic Annotation
more info
 
vesicle-mediated transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with AP-3 adaptor complex IDA
Inferred from Direct Assay
more info
PubMed 
HOPS complex IDA
Inferred from Direct Assay
more info
PubMed 
autophagosome ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with clathrin complex IDA
Inferred from Direct Assay
more info
PubMed 
clathrin-coated vesicle IEA
Inferred from Electronic Annotation
more info
 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane HDA PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
vacuolar protein sorting-associated protein 33A
Names
VPS33A, CORVET/HOPS core subunit
vacuolar protein sorting 33 homolog A
vacuolar protein sorting 33A

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_054909.1 RefSeqGene

    Range
    4699..41961
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001351018.2NP_001337947.1  vacuolar protein sorting-associated protein 33A isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC048338, AI830457
    Conserved Domains (1) summary
    pfam00995
    Location:23573
    Sec1; Sec1 family
  2. NM_001351019.2NP_001337948.1  vacuolar protein sorting-associated protein 33A isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC048338, AI830457
    Conserved Domains (1) summary
    pfam00995
    Location:18568
    Sec1; Sec1 family
  3. NM_001351020.2NP_001337949.1  vacuolar protein sorting-associated protein 33A isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate exons in the central coding region but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AC048338, AI830457
    Conserved Domains (1) summary
    pfam00995
    Location:34477
    Sec1; Sec1 family
  4. NM_001351021.2NP_001337950.1  vacuolar protein sorting-associated protein 33A isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks a portion of the 3' coding region, includes an alternate penultimate exon, and differs in the 3' UTR, compared to variant 1. The encoded isoform (5) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC048338, BF510648, BX337807, CK024047
    Consensus CDS
    CCDS86339.1
    Related
    ENSP00000442951.1, ENST00000451053.3
    Conserved Domains (1) summary
    pfam00995
    Location:34165
    Sec1; Sec1 family
  5. NM_022916.6NP_075067.2  vacuolar protein sorting-associated protein 33A isoform 1

    See identical proteins and their annotated locations for NP_075067.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC048338, AI830457, BC016617, BP199163
    Consensus CDS
    CCDS9231.1
    UniProtKB/Swiss-Prot
    Q96AX1
    Related
    ENSP00000267199.3, ENST00000267199.8
    Conserved Domains (1) summary
    pfam00995
    Location:34584
    Sec1; Sec1 family

RefSeqs of Annotated Genomes: Homo sapiens 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_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    122229564..122266494 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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