Atp6v0d1 ATPase, H+ transporting, lysosomal V0 subunit D1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp6v0d1provided by MGI
Official Full Name: ATPase, H+ transporting, lysosomal V0 subunit D1provided by MGI
Primary source: MGI:MGI:1201778
See related: Ensembl:ENSMUSG00000013160 AllianceGenome:MGI:1201778
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
Also known as: P39; Ac39; VATX; Vma6; Atp6d
Summary: Contributes to proton-transporting ATPase activity, rotational mechanism. Involved in synaptic vesicle lumen acidification. Located in early endosome. Part of proton-transporting V-type ATPase, V0 domain. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system gland; nervous system; and sensory organ. Used to study cardiomyopathy and lipodystrophy. Orthologous to human ATP6V0D1 (ATPase H+ transporting V0 subunit d1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in cortex adult (RPKM 82.2), cerebellum adult (RPKM 80.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 D3; 8 53.04 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (106251093..106292696, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (105524461..105566064, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ATP6V0D1 promotes alkaliptosis by blocking STAT3-mediated lysosomal pH homeostasis.
Title: ATP6V0D1 promotes alkaliptosis by blocking STAT3-mediated lysosomal pH homeostasis.
Comparison of the kinetics of V-ATPase complexes containing Vma6p and d1 demonstrate that although the Km for ATP hydrolysis is similar, the coupling ratio is approximately 3-6-fold higher for d1-containing complexes than for Vma6p-containing complexes.
Title: Expression and function of the mouse V-ATPase d subunit isoforms.

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Variation

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Alleles

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

Endonuclease-mediated (5) 1 citation
Gene trapped (1)
Targeted (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8Mit198 (e-PCR), detects polymorphism
- UniSTS:131405

Atp6e (e-PCR), detects polymorphism
- UniSTS:141139

AI267038 (e-PCR)
- UniSTS:179803

D8Dcr39 (e-PCR), detects polymorphism
- UniSTS:507847

RH94762 (e-PCR)
- UniSTS:120009

NoName (e-PCR)
- UniSTS:235979

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
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
contributes_to proton-transporting ATPase activity, rotational mechanism	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to increased oxygen levels	ISO Inferred from Sequence Orthology more info
involved_in cellular response to increased oxygen levels	ISS Inferred from Sequence or Structural Similarity more info
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular iron ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular iron ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic vesicle lumen acidification	EXP Inferred from Experiment more info	PubMed
involved_in synaptic vesicle lumen acidification	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle lumen acidification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vacuolar acidification	IBA Inferred from Biological aspect of Ancestor more info
involved_in vacuolar transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in axon terminus	IEA Inferred from Electronic Annotation more info
located_in axon terminus	ISO Inferred from Sequence Orthology more info
colocalizes_with centrosome	ISO Inferred from Sequence Orthology more info
colocalizes_with centrosome	ISS Inferred from Sequence or Structural Similarity more info
located_in clathrin-coated vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info
part_of plasma membrane proton-transporting V-type ATPase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of proton-transporting V-type ATPase complex	IDA Inferred from Direct Assay more info	PubMed
part_of proton-transporting V-type ATPase, V0 domain	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
part_of vacuolar proton-transporting V-type ATPase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of vacuolar proton-transporting V-type ATPase complex	ISO Inferred from Sequence Orthology more info
part_of vacuolar proton-transporting V-type ATPase, V0 domain	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: V-type proton ATPase subunit d 1

Names: ATPase, H+ transporting, V0 subunit D; ATPase, H+ transporting, lysosomal (vacuolar proton pump), 42 kDa; ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D; V-ATPase 40 kDa accessory protein; V-ATPase AC39 subunit; V-ATPase subunit d 1; lysosomal 38kDa; physophilin; vacuolar proton pump subunit d 1

NP_038505.2

EC 7.1.2.2

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.