Atp6v1h ATPase, H+ transporting, lysosomal V1 subunit H [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp6v1hprovided by MGI
Official Full Name: ATPase, H+ transporting, lysosomal V1 subunit Hprovided by MGI
Primary source: MGI:MGI:1914864
See related: Ensembl:ENSMUSG00000033793 AllianceGenome:MGI:1914864
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: SFD; VMA13; CGI-11; SFDbeta; SFDalpha; 0710001F19Rik
Summary: Predicted to enable proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in endocytosis. Predicted to act upstream of or within ion transport. Predicted to be part of vacuolar proton-transporting V-type ATPase, V1 domain. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Orthologous to human ATP6V1H (ATPase H+ transporting V1 subunit H). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta adult (RPKM 22.7), CNS E18 (RPKM 15.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 A1; 1 1.85 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (5153201..5233438)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (5082978..5163213)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Atp6v1h Deficiency Blocks Bone Loss in Simulated Microgravity Mice through the Fos-Jun-Src-Integrin Pathway.
Title: Atp6v1h Deficiency Blocks Bone Loss in Simulated Microgravity Mice through the Fos-Jun-Src-Integrin Pathway.
Long Noncoding RNA lnc-TCEA1-3 Affects Osteoclastic Function by Regulating ATP6V1H.
Title: Long Noncoding RNA lnc-TCEA1-3 Affects Osteoclastic Function by Regulating ATP6V1H.
ATP6V1H facilitates osteogenic differentiation in MC3T3-E1 cells via Akt/GSK3beta signaling pathway
Title: ATP6V1H facilitates osteogenic differentiation in MC3T3-E1 cells via Akt/GSK3β signaling pathway.
Partial loss of ATP6V1H inhibits osteogenic differentiation and promotes adipogenic differentiation of bone marrow stromal cells.
Title: ATP6V1H regulates the growth and differentiation of bone marrow stromal cells.
Differences between two isoforms using bioinformatic methods, as well as some in vitro and in vivo methods in mice and zebrafish; found that two isoforms of H subunit showed the tissue specific locations and the ratio of two subunits might have an important role to control osteoclast function and craniofacial development.
Title: Analysis of two transcript isoforms of vacuolar ATPase subunit H in mouse and zebrafish.

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Variation

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Alleles

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

Gene trapped (1)
Endonuclease-mediated (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 proton-transporting ATPase activity, rotational mechanism	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in endocytosis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation 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

Component	Evidence Code	Pubs
part_of ATPase complex	ISO Inferred from Sequence Orthology more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in extrinsic component of synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	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, V1 domain	ISO Inferred from Sequence Orthology more info	PubMed
part_of transmembrane transporter complex	IDA Inferred from Direct Assay more info	PubMed
part_of vacuolar proton-transporting V-type ATPase, V1 domain	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: V-type proton ATPase subunit H

Names: ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H; H+ transporting ATPase lysosomal V1 subunit H; V-ATPase H subunit; V-ATPase subunit H; vacuolar ATP synthase subunit H; vacuolar ATPase subunit H; vacuolar proton pump H subunit; vacuolar proton pump subunit H

NP_001297371.1

EC 7.1.2.2

NP_598587.2

EC 7.1.2.2

XP_006495496.1

EC 7.1.2.2

XP_006495499.1

EC 7.1.2.2

XP_006495500.1

EC 7.1.2.2

XP_006495502.1

EC 7.1.2.2

XP_011236638.1

EC 7.1.2.2

XP_017176592.1

EC 7.1.2.2

XP_030111067.1

EC 7.1.2.2

XP_030111104.1

EC 7.1.2.2

XP_030111139.1

EC 7.1.2.2

XP_036008316.1

EC 7.1.2.2

XP_036008324.1

EC 7.1.2.2

XP_036008333.1

EC 7.1.2.2

XP_036008335.1

EC 7.1.2.2

XP_036008338.1

EC 7.1.2.2

XP_036008348.1

EC 7.1.2.2

XP_036008354.1

EC 7.1.2.2

XP_036008355.1

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.

mRNA and Protein(s)

NM_001310442.1 → NP_001297371.1 V-type proton ATPase subunit H isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC131067, AK078767, BY267800, CK621648

Consensus CDS

CCDS78541.1

UniProtKB/TrEMBL

A0A0A6YWP6, A0A0A6YX18

Related

ENSMUSP00000141797.2, ENSMUST00000192698.3

Conserved Domains (1) summary

cd00256
Location:17 → 447

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...
NM_133826.5 → NP_598587.2 V-type proton ATPase subunit H isoform 1

See identical proteins and their annotated locations for NP_598587.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC131067, AK078767, BY267800

Consensus CDS

CCDS14808.1

UniProtKB/Swiss-Prot

Q8BVE3, Q921X8

UniProtKB/TrEMBL

A0A0A6YWP6

Related

ENSMUSP00000040756.8, ENSMUST00000044369.13

Conserved Domains (1) summary

cd00256
Location:17 → 465

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...

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_000067.7 Reference GRCm39 C57BL/6J

Range

5153201..5233438

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030255279.2 → XP_030111139.1 V-type proton ATPase subunit H isoform X8

Conserved Domains (1) summary

cd00256
Location:1 → 352

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...
XM_006495433.4 → XP_006495496.1 V-type proton ATPase subunit H isoform X1

See identical proteins and their annotated locations for XP_006495496.1

UniProtKB/Swiss-Prot

Q8BVE3, Q921X8

UniProtKB/TrEMBL

A0A0A6YWP6

Conserved Domains (1) summary

cd00256
Location:17 → 465

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...
XM_036152455.1 → XP_036008348.1 V-type proton ATPase subunit H isoform X5

UniProtKB/TrEMBL

A0A0A6YWP6

Conserved Domains (1) summary

cd00256
Location:17 → 417

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...
XM_030255207.2 → XP_030111067.1 V-type proton ATPase subunit H isoform X4

UniProtKB/TrEMBL

A0A0A6YWP6

Conserved Domains (1) summary

cd00256
Location:1 → 425

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...
XM_036152440.1 → XP_036008333.1 V-type proton ATPase subunit H isoform X4

UniProtKB/TrEMBL

A0A0A6YWP6

Conserved Domains (1) summary

cd00256
Location:1 → 425

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...
XM_006495436.5 → XP_006495499.1 V-type proton ATPase subunit H isoform X7

Conserved Domains (1) summary

cd00256
Location:1 → 370

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...
XM_030255244.2 → XP_030111104.1 V-type proton ATPase subunit H isoform X8

Conserved Domains (1) summary

cd00256
Location:1 → 352

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...
XM_036152431.1 → XP_036008324.1 V-type proton ATPase subunit H isoform X3

UniProtKB/TrEMBL

A0A0A6YWP6

Conserved Domains (1) summary

cd00256
Location:17 → 435

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...
XM_036152445.1 → XP_036008338.1 V-type proton ATPase subunit H isoform X5

UniProtKB/TrEMBL

A0A0A6YWP6

Conserved Domains (1) summary

cd00256
Location:17 → 417

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...
XM_036152423.1 → XP_036008316.1 V-type proton ATPase subunit H isoform X2

UniProtKB/TrEMBL

A0A0A6YWP6, A0A0A6YX18

Conserved Domains (1) summary

cd00256
Location:17 → 447

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...
XM_036152462.1 → XP_036008355.1 V-type proton ATPase subunit H isoform X6

UniProtKB/TrEMBL

A0A0A6YWP6

Conserved Domains (1) summary

cd00256
Location:1 → 407

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...
XM_036152442.1 → XP_036008335.1 V-type proton ATPase subunit H isoform X4

UniProtKB/TrEMBL

A0A0A6YWP6

Conserved Domains (1) summary

cd00256
Location:1 → 425

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...
XM_036152461.1 → XP_036008354.1 V-type proton ATPase subunit H isoform X6

UniProtKB/TrEMBL

A0A0A6YWP6

Conserved Domains (1) summary

cd00256
Location:1 → 407

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...
XM_011238336.4 → XP_011236638.1 V-type proton ATPase subunit H isoform X10

See identical proteins and their annotated locations for XP_011236638.1

Conserved Domains (1) summary

cl21727
Location:1 → 258

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...
XM_006495439.4 → XP_006495502.1 V-type proton ATPase subunit H isoform X10

See identical proteins and their annotated locations for XP_006495502.1

Conserved Domains (1) summary

cl21727
Location:1 → 258

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...
XM_017321103.2 → XP_017176592.1 V-type proton ATPase subunit H isoform X10

Conserved Domains (1) summary

cl21727
Location:1 → 258

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...
XM_006495437.4 → XP_006495500.1 V-type proton ATPase subunit H isoform X9

Conserved Domains (1) summary

cl21727
Location:2 → 304

VATPase_H; regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The topology is ...