Vps33b vacuolar protein sorting 33B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Vps33bprovided by MGI
Official Full Name: vacuolar protein sorting 33Bprovided by MGI
Primary source: MGI:MGI:2446237
See related: Ensembl:ENSMUSG00000030534 AllianceGenome:MGI:2446237
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Involved in megakaryocyte development; platelet alpha granule organization; and regulation of platelet aggregation. Acts upstream of or within several processes, including collagen fibril organization; collagen metabolic process; and peptidyl-lysine hydroxylation. Predicted to be located in Golgi apparatus; cytoplasmic vesicle; and perinuclear region of cytoplasm. Predicted to be part of CORVET complex and HOPS complex. Predicted to be active in lysosome and synaptic vesicle. Is expressed in dorsal root ganglion; facial ganglion; glossopharyngeal ganglion; trigeminal ganglion; and vestibulo-cochlear ganglion. Used to study ARC syndrome. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita; arthrogryposis, renal dysfunction, and cholestasis 1; cholestasis; kidney disease; and progressive familial intrahepatic cholestasis. Orthologous to human VPS33B (VPS33B late endosome and lysosome associated). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in CNS E18 (RPKM 8.7), CNS E14 (RPKM 7.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 D2; 7 45.59 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (79919369..79941323)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (80269621..80291579)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Vps33B controls Treg cell suppressive function through inhibiting lysosomal nutrient sensing complex-mediated mTORC1 activation.
Title: Vps33B controls Treg cell suppressive function through inhibiting lysosomal nutrient sensing complex-mediated mTORC1 activation.
Vps33B in Dendritic Cells Regulates House Dust Mite-Induced Allergic Lung Inflammation.
Title: Vps33B in Dendritic Cells Regulates House Dust Mite-Induced Allergic Lung Inflammation.
Down-regulation of Vps33b expression is a critical step for inflammation-driven hepatocellular carcinoma, and Vps33b serves as an important tumor suppressor in hepatocarcinogenesis.
Title: Vacuolar Protein Sorting 33B Is a Tumor Suppressor in Hepatocarcinogenesis.
VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function
Title: VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function.
VPS33B is vital for maintenance of mammalian structural and functional hepatocyte polarity.
Title: Vps33b is crucial for structural and functional hepatocyte polarity.
this study shows that Vps33B is required in mouse macrophages for normal maturation of phagosomes and specialized endosomes that are induced upon pattern-recognition receptors activation
Title: ARC Syndrome-Linked Vps33B Protein Is Required for Inflammatory Endosomal Maturation and Signal Termination.
VPS33B interacted with the GDI2/RAB11A/RAB27A pathway to regulate the trafficking of secretory proteins as exosomes.
Title: Sorting protein VPS33B regulates exosomal autocrine signaling to mediate hematopoiesis and leukemogenesis.
The data presented in this study suggest that Vps33b is involved in alpha-granule formation possibly by facilitating the Vwf-positive vesicular trafficking to alpha-granule-related vacuoles in megakaryocytes.
Title: Vps33b regulates Vwf-positive vesicular trafficking in megakaryocytes.
Abnormal protein trafficking and impairment in multivesicular bodies maturation in Megakaryocytes underlie the alpha-granule deficiency in Vps33b(fl/fl)-ER(T2) mouse and ARC patients.
Title: VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within collagen metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within collagen metabolic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in endosome organization	IEA Inferred from Electronic Annotation more info
involved_in endosome organization	ISO Inferred from Sequence Orthology more info
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intracellular protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosome localization	IEA Inferred from Electronic Annotation more info
involved_in lysosome localization	ISO Inferred from Sequence Orthology more info
involved_in megakaryocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanosome localization	IEA Inferred from Electronic Annotation more info
involved_in melanosome localization	ISO Inferred from Sequence Orthology more info
involved_in membrane fusion	IEA Inferred from Electronic Annotation more info
involved_in membrane fusion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within peptidyl-lysine hydroxylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within peptidyl-lysine hydroxylation	ISO Inferred from Sequence Orthology more info	PubMed
involved_in platelet alpha granule organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet alpha granule organization	ISO Inferred from Sequence Orthology more info
involved_in protein transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of platelet aggregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skin morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in skin morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within vesicle-mediated transport	ISO Inferred from Sequence Orthology more info	PubMed

Component	Evidence Code	Pubs
part_of CORVET complex	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info	PubMed
part_of HOPS complex	IEA Inferred from Electronic Annotation more info
part_of HOPS complex	ISO Inferred from Sequence Orthology more info
located_in clathrin-coated vesicle	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated vesicle	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in early endosome membrane	ISO Inferred from Sequence Orthology more info
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in late endosome	ISO Inferred from Sequence Orthology more info
located_in late endosome membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in platelet alpha granule	IEA Inferred from Electronic Annotation more info
located_in platelet alpha granule	ISO Inferred from Sequence Orthology more info
located_in recycling endosome	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle	ISO Inferred from Sequence Orthology more info
part_of vesicle tethering complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: vacuolar protein sorting-associated protein 33B

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.

mRNA and Protein(s)

NM_001420425.1 → NP_001407354.1 vacuolar protein sorting-associated protein 33B isoform 2

Status: VALIDATED

Source sequence(s)

AC109232

UniProtKB/TrEMBL

Q8C076
NM_001420426.1 → NP_001407355.1 vacuolar protein sorting-associated protein 33B isoform 3

Status: VALIDATED

Source sequence(s)

AC109232

UniProtKB/TrEMBL

Q8C076
NM_001420427.1 → NP_001407356.1 vacuolar protein sorting-associated protein 33B isoform 4

Status: VALIDATED

Source sequence(s)

AC109232
NM_001420428.1 → NP_001407357.1 vacuolar protein sorting-associated protein 33B isoform 5

Status: VALIDATED

Source sequence(s)

AC109232
NM_178070.5 → NP_835171.2 vacuolar protein sorting-associated protein 33B isoform 1

See identical proteins and their annotated locations for NP_835171.2

Status: VALIDATED

Source sequence(s)

AC109232

Consensus CDS

CCDS39997.1

UniProtKB/Swiss-Prot

P59016

UniProtKB/TrEMBL

Q8C076

Related

ENSMUSP00000032749.6, ENSMUST00000032749.12

Conserved Domains (1) summary

pfam00995
Location:37 → 605

Sec1; Sec1 family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

79919369..79941323

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030242473.1 → XP_030098333.1 vacuolar protein sorting-associated protein 33B isoform X1

Conserved Domains (1) summary

pfam00995
Location:37 → 368

Sec1; Sec1 family