Atp5mc3 MGI Mouse Gene Detail - MGI:2442035 - ATP synthase membrane subunit c locus 3

Symbol

Atp5mc3
Name

ATP synthase membrane subunit c locus 3
Synonyms

Atp5g3

Feature Type

protein coding gene
IDs

MGI:2442035
NCBI Gene: 228033
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr2:73738791-73741670 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 43.90 cM
Mapping Data

1 experiment

SNPs within 2kb

160 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2442035	protein coding gene	Chr2:73738791-73742793 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0025842	protein coding gene	Chr2:74213413-74216292 (-)
A/J	MGP_AJ_G0025820	protein coding gene	Chr2:71299814-71302693 (-)
AKR/J	MGP_AKRJ_G0025788	protein coding gene	Chr2:73240757-73243636 (-)
BALB/cJ	MGP_BALBcJ_G0025814	protein coding gene	Chr2:71484206-71487085 (-)
C3H/HeJ	MGP_C3HHeJ_G0025574	protein coding gene	Chr2:73438467-73441346 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0026261	protein coding gene	Chr2:76425820-76428699 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023664	protein coding gene	Chr2:68719031-68721914 (-)
CAST/EiJ	MGP_CASTEiJ_G0025038	protein coding gene	Chr2:73719471-73722355 (-)
CBA/J	MGP_CBAJ_G0025555	protein coding gene	Chr2:79218183-79221062 (-)
DBA/2J	MGP_DBA2J_G0025686	protein coding gene	Chr2:70891420-70894299 (-)
FVB/NJ	MGP_FVBNJ_G0025648	protein coding gene	Chr2:70303333-70306212 (-)
LP/J	MGP_LPJ_G0025774	protein coding gene	Chr2:74089689-74092568 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025679	protein coding gene	Chr2:81136005-81138884 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026318	protein coding gene	Chr2:73339604-73342483 (-)
PWK/PhJ	MGP_PWKPhJ_G0024779	protein coding gene	Chr2:70814382-70817263 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0024587	protein coding gene	Chr2:73572724-73575612 (-)
WSB/EiJ	MGP_WSBEiJ_G0025106	protein coding gene	Chr2:73793645-73796519 (-)

Human Ortholog

ATP5MC3, ATP synthase membrane subunit c locus 3

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ATP5MC3, ATP synthase membrane subunit c locus 3
Synonyms

ATP5G3, DYTSPG, P3
Links

HGNC:843

NCBI Gene ID: 518

neXtProt AC: NX_P48201

UniProt: P48201
Chr Location

2q31.1; chr2:175176258-175181710 (-) GRCh38

MGI Vertebrate Homology

Atp5mc3 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: ATP5MC3
Gene Tree

Atp5mc3

Diseases

1 with human ATP5MC3 associations

				Human Disease	Mouse Models
				early-onset dystonia and/or spastic paraplegia IDs early-onset dystonia and/or spastic paraplegia DOID:0070445 OMIM:619681

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

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
25 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

33
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

16
Targeted

14
Genomic Mutations

11 involving Atp5mc3
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

21 strains or lines available

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All GO Annotations

12
GO References

6

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

807
Tissues

97
cDNA Data

347
Literature Summary

8

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase atp5mc3

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All Sequences

49
RefSeq

10
UniProt

2
CCDS

CCDS16136.1

Ensembl

ENSMUSG00000018770 (Evidence)
NCBI Gene

228033

			Length	Strain/Species	Flank
genomic	ENSMUSG00000018770	Ensembl Gene Model \| MGI Sequence Detail	2880	C57BL/6J	± kb
transcript	ENSMUST00000018914	Ensembl \| MGI Sequence Detail	714	Not Applicable
polypeptide	ENSMUSP00000018914	Ensembl \| MGI Sequence Detail	141	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000032029 ATP synthase F(0) complex subunit C3, mitochondrial

(term hierarchy)
InterPro Domains

IPR000454 ATP synthase, F0 complex, subunit C

IPR020537 ATP synthase, F0 complex, subunit C, DCCD-binding site

IPR038662 F1F0 ATP synthase subunit C superfamily

IPR035921 F/V-ATP synthase subunit C superfamily

IPR002379 V-ATPase proteolipid subunit C-like domain

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All nucleic 348

cDNA 347

Primer pair 1

Microarray probesets 2

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MGI:7469640

Summaries

All 54

Developmental Gene Expression 8

Gene Ontology 6

Phenotypes 25
Earliest

J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
Latest

J:347631 Li C, et al., Cfp1 Controls Cardiomyocyte Maturation by Modifying Histone H3K4me3 of Structural, Metabolic, and Contractile Related Genes. Adv Sci (Weinh). 2024 Mar;11(11):e2305992

TSS for Atp5mc3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr24603	Chr2:73742776-73742810 (-)	-1,123 bp
Tssr24602	Chr2:73741667-73741672 (-)	0 bp
Tssr24601	Chr2:73741655-73741660 (-)	12 bp
Tssr24600	Chr2:73741629-73741652 (-)	29 bp
Tssr24599	Chr2:73741351-73741400 (-)	294 bp
Tssr24598	Chr2:73741317-73741329 (-)	347 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 11/19/2024 MGI 6.24