Atp5f1a MGI Mouse Gene Detail - MGI:88115 - ATP synthase F1 subunit alpha

Symbol

Atp5f1a
Name

ATP synthase F1 subunit alpha
Synonyms

Atp5a1, Atpm, D18Ertd206e, Mom2

Feature Type

protein coding gene
IDs

MGI:88115
NCBI Gene: 11946
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr18:77861468-77870569 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 52.38 cM
Mapping Data

6 experiments

SNPs within 2kb

385 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88115	protein coding gene	Chr18:77861429-77870569 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024579	protein coding gene	Chr18:78580464-78589597 (+)
A/J	MGP_AJ_G0024546	protein coding gene	Chr18:75156955-75166095 (+)
AKR/J	MGP_AKRJ_G0024517	protein coding gene	Chr18:77320447-77329445 (+)
BALB/cJ	MGP_BALBcJ_G0024545	protein coding gene	Chr18:75346779-75355907 (+)
C3H/HeJ	MGP_C3HHeJ_G0024314	protein coding gene	Chr18:77471293-77480427 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024992	protein coding gene	Chr18:80638368-80647507 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022422	protein coding gene	Chr18:74125512-74134898 (+)
CAST/EiJ	MGP_CASTEiJ_G0023786	protein coding gene	Chr18:77776781-77785959 (+)
CBA/J	MGP_CBAJ_G0024283	protein coding gene	Chr18:83511042-83520181 (+)
DBA/2J	MGP_DBA2J_G0024413	protein coding gene	Chr18:74698768-74707905 (+)
FVB/NJ	MGP_FVBNJ_G0024379	protein coding gene	Chr18:74059161-74068472 (+)
LP/J	MGP_LPJ_G0024497	protein coding gene	Chr18:78486924-78496069 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024409	protein coding gene	Chr18:84740915-84750109 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025040	protein coding gene	Chr18:77539293-77548419 (+)
PWK/PhJ	MGP_PWKPhJ_G0023531	protein coding gene	Chr18:75123863-75133569 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023335	protein coding gene	Chr18:77718034-77728311 (+)
WSB/EiJ	MGP_WSBEiJ_G0023850	protein coding gene	Chr18:77491126-77500258 (+)

Human Ortholog

ATP5F1A, ATP synthase F1 subunit alpha

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ATP5F1A, ATP synthase F1 subunit alpha
Synonyms

ATP5A, ATP5A1, ATP5AL2, ATPM, COXPD22, hATP1, HEL-S-123m, MC5DN4, MC5DN4A, MC5DN4B, MOM2, OMR, ORM
Links

HGNC:823

NCBI Gene ID: 498

neXtProt AC: NX_P25705

UniProt: P25705
Chr Location

18q21.1; chr18:46080248-46104334 (-) GRCh38

MGI Vertebrate Homology

Atp5f1a stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ATP5F1A
Protein SuperFamily

F_ATPase_subunit_alpha
Gene Tree

Atp5f1a

Diseases

3 with human ATP5F1A associations

				Human Disease	Mouse Models
				combined oxidative phosphorylation deficiency 22 IDs combined oxidative phosphorylation deficiency 22 DOID:0111498 OMIM:616045
				mitochondrial complex V (ATP synthase) deficiency nuclear type 4A IDs mitochondrial complex V (ATP synthase) deficiency nuclear type 4A DOID:0070461 OMIM:620358
				mitochondrial complex V (ATP synthase) deficiency nuclear type 4B IDs mitochondrial complex V (ATP synthase) deficiency nuclear type 4B DOID:0070462 OMIM:615228

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

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Phenotype Summary

2 phenotypes from 1 allele in 2 genetic backgrounds
1 phenotype from multigenic genotypes
17 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

14
Gene trapped

10
Spontaneous

1
Targeted

2
Transposon induced

1
Genomic Mutations

1 involving Atp5f1a
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

38 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice carrying a targeted mutation of this gene display preweaning and embryonic lethality. Heterozygous mutants exhibit decreased body weight and lean body mass and reduced circulating insulin, serum albumin, and total protein levels.

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All GO Annotations

57
GO References

19

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

1004
Tissues

121
cDNA Data

1471
Literature Summary

33

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase atp5f1a

ZFIN atp5fa1

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All Sequences

104
RefSeq

2
UniProt

3
CCDS

CCDS29358.1

Ensembl

ENSMUSG00000025428 (Evidence)
NCBI Gene

11946

			Length	Strain/Species	Flank
genomic	11946	NCBI Gene Model \| MGI Sequence Detail	9102	C57BL/6J	± kb
transcript	NM_007505	RefSeq \| MGI Sequence Detail	2443	ZRU/MplStud
polypeptide	Q03265	UniProt \| EBI \| MGI Sequence Detail	553	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000004453 ATP synthase subunit alpha, mitochondrial

(term hierarchy)
InterPro Domains

IPR020003 ATPase, alpha/beta subunit, nucleotide-binding domain, active site

IPR004100 ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain

IPR036121 ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain superfamily

IPR000194 ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain

IPR000793 ATP synthase, alpha subunit, C-terminal

IPR038376 ATP synthase, alpha subunit, C-terminal domain superfamily

IPR005294 ATP synthase, F1 complex, alpha subunit

IPR033732 ATP synthase, F1 complex, alpha subunit nucleotide-binding domain

IPR023366 ATP synthase subunit alpha, N-terminal domain-like superfamily

IPR027417 P-loop containing nucleoside triphosphate hydrolase
GlyGen

Q03265 4 sites, 1 O-linked glycan (4 sites)

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All nucleic 1477

cDNA 1471

Primer pair 6

Microarray probesets 5

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MGD-MRK-1468, MGD-MRK-1477, MGI:1098570, MGI:1891402, MGI:2147192, MGI:2147287, MGI:2147288, MGI:7469632

Summaries

All 101

Developmental Gene Expression 33

Gene Ontology 19

Phenotypes 17
Earliest

J:4125 Yotov WV, et al., Cloning and functional expression analysis of the alpha subunit of mouse ATP synthase. Biochem Biophys Res Commun. 1993 Feb 26;191(1):142-8
Latest

J:353791 Xu L, et al., Context-dependent roles of mitochondrial LONP1 in orchestrating the balance between airway progenitor versus progeny cells. Cell Stem Cell. 2024 Aug 16;

TSS for Atp5f1a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr152041	Chr18:77861684-77861706 (+)	227 bp
Tssr152042	Chr18:77863488-77863505 (+)	2,029 bp
Tssr152043	Chr18:77866279-77866311 (+)	4,827 bp
Tssr152044	Chr18:77866455-77866497 (+)	5,008 bp
Tssr152045	Chr18:77867546-77867597 (+)	6,104 bp
Tssr152046	Chr18:77867770-77867820 (+)	6,327 bp
Tssr152047	Chr18:77869539-77869560 (+)	8,082 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)
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