Atp6v0c MGI Mouse Gene Detail - MGI:88116 - ATPase, H+ transporting, lysosomal V0 subunit C

Symbol

Atp6v0c
Name

ATPase, H+ transporting, lysosomal V0 subunit C
Synonyms

Atp6c2, Atp6l, Atpl, Atpl-rs1, H(+)-ATPase (mvp), PL16, proteolipid

Feature Type

protein coding gene
IDs

MGI:88116
NCBI Gene: 11984
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr17:24382839-24388652 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 12.29 cM
Mapping Data

4 experiments

SNPs within 2kb

181 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88116	protein coding gene	Chr17:24382839-24388676 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0023291	protein coding gene	Chr17:23117933-23123468 (-)
A/J	MGP_AJ_G0023251	protein coding gene	Chr17:22516745-22522295 (-)
AKR/J	MGP_AKRJ_G0023218	protein coding gene	Chr17:22579596-22585153 (-)
BALB/cJ	MGP_BALBcJ_G0023256	protein coding gene	Chr17:22693466-22699159 (-)
C3H/HeJ	MGP_C3HHeJ_G0023016	protein coding gene	Chr17:22913766-22919589 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0023699	protein coding gene	Chr17:24162634-24168579 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021175	protein coding gene	Chr17:19976138-19981344 (-)
CAST/EiJ	MGP_CASTEiJ_G0022518	protein coding gene	Chr17:22756609-22762088 (-)
CBA/J	MGP_CBAJ_G0022992	protein coding gene	Chr17:24989589-24995168 (-)
DBA/2J	MGP_DBA2J_G0023121	protein coding gene	Chr17:22090615-22095833 (-)
FVB/NJ	MGP_FVBNJ_G0023091	protein coding gene	Chr17:21806514-21812326 (-)
LP/J	MGP_LPJ_G0023198	protein coding gene	Chr17:23434149-23441651 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023110	protein coding gene	Chr17:24708223-24713956 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023737	protein coding gene	Chr17:22846394-22852618 (-)
PWK/PhJ	MGP_PWKPhJ_G0022267	protein coding gene	Chr17:20848252-20854307 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0022085	protein coding gene	Chr17:20871472-20876724 (-)
WSB/EiJ	MGP_WSBEiJ_G0022581	protein coding gene	Chr17:22911220-22918383 (-)

Human Ortholog

ATP6V0C, ATPase H+ transporting V0 subunit c

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ATP6V0C, ATPase H+ transporting V0 subunit c
Synonyms

ATP6C, ATP6L, ATPL, EPEO3, VATL, Vma3, VPPC
Links

HGNC:855

NCBI Gene ID: 527

neXtProt AC: NX_P27449

UniProt: P27449
Chr Location

16p13.3; chr16:2513726-2520218 (+) GRCh38

MGI Vertebrate Homology

Atp6v0c stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: ATP6V0C
Gene Tree

Atp6v0c

Diseases

2 with human ATP6V0C associations

				Human Disease	Mouse Models
				early-onset epilepsy 3 IDs early-onset epilepsy 3 DOID:0070472 OMIM:620465
				thyroid gland carcinoma IDs thyroid gland carcinoma DOID:3963 EFO:0002892 MESH:D013964 NCI:C4815 UMLS_CUI:C0549473

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
10 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Endonuclease-mediated

3
Gene trapped

6
Targeted

3
Find Mice (IMSR)

13 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in embryonic lethality.

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All GO Annotations

25
GO References

11

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1015
Tissues

156
cDNA Data

27
Literature Summary

11

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase atp6v0c

ZFIN atp6v0ca, atp6v0cb

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All Sequences

84
RefSeq

12
UniProt

6
CCDS

CCDS28476.1

Ensembl

ENSMUSG00000024121 (Evidence)
NCBI Gene

11984

			Length	Strain/Species	Flank
genomic	11984	NCBI Gene Model \| MGI Sequence Detail	5814	C57BL/6J	± kb
transcript	NM_001361534	RefSeq \| MGI Sequence Detail	1243	C57BL/6
polypeptide	P63082	UniProt \| EBI \| MGI Sequence Detail	155	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000004475 V-type proton ATPase 16 kDa proteolipid subunit c

(term hierarchy)
PDB

9BRA, 9BRQ, 9BRR, 9BRS, 9BRT, 9BRU, 9BRY, 9BRZ
InterPro Domains

IPR035921 F/V-ATP synthase subunit C superfamily

IPR000245 V-ATPase proteolipid subunit

IPR011555 V-ATPase proteolipid subunit C, eukaryotic

IPR002379 V-ATPase proteolipid subunit C-like domain
GlyGen

P63082 1 site, 1 O-linked glycan (1 site)

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All nucleic 32

cDNA 29

Primer pair 3

Microarray probesets 5

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MGD-MRK-1476, MGD-MRK-36190, MGD-MRK-36468, MGI:107616

Summaries

All 57

Developmental Gene Expression 11

Gene Ontology 11

Phenotypes 10
Earliest

J:20078 Hanada H, et al., Molecular cloning of cDNA encoding the 16 KDa subunit of vacuolar H(+)-ATPase from mouse cerebellum. Biochem Biophys Res Commun. 1991 May 15;176(3):1062-7
Latest

J:341383 Salamon I, et al., Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Nat Commun. 2023 Sep 27;14(1):6025

TSS for Atp6v0c:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr146712	Chr17:24389800-24389826 (-)	-1,161 bp
Tssr146711	Chr17:24389755-24389776 (-)	-1,114 bp
Tssr146710	Chr17:24389733-24389752 (-)	-1,091 bp
Tssr146709	Chr17:24388622-24388687 (-)	-3 bp
Tssr5032	Chr17:24388597-24388620 (-)	43 bp
Tssr146708	Chr17:24388388-24388424 (-)	246 bp
Tssr146707	Chr17:24387802-24387814 (-)	844 bp
Tssr146706	Chr17:24387749-24387796 (-)	879 bp
Tssr146705	Chr17:24387723-24387741 (-)	920 bp
Tssr146704	Chr17:24386404-24386411 (-)	2,244 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24