Gene

atp5fa1

ID

ZDB-GENE-060201-1

Name

ATP synthase F1 subunit alpha

Symbol

atp5fa1 Nomenclature History

Previous Names

atp5a1
zgc:154103

Type

protein_coding_gene

Location

Chr: 21 Mapping Details/Browsers

Description

Predicted to contribute to ATPase activity. Predicted to be involved in ATP synthesis coupled proton transport. Predicted to localize to plasma membrane and proton-transporting ATP synthase complex, catalytic core F(1). Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 22 and mitochondrial complex V (ATP synthase) deficiency nuclear type 4. Is expressed in brain; male organism; myotome; pectoral fin; and pharyngeal arch 3-7. Orthologous to human ATP5F1A (ATP synthase F1 subunit alpha).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

8 figures from 6 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With atp5fa1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
combined oxidative phosphorylation deficiency 22	Alliance	?Combined oxidative phosphorylation deficiency 22	616045
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A	Alliance	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A	620358
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B	Alliance	?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, encephalopathic type	615228

Associated With atp5fa1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Active_site	IPR020003	ATPase, alpha/beta subunit, nucleotide-binding domain, active site
Domain	IPR000194	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain
Domain	IPR000793	ATP synthase, alpha subunit, C-terminal
Domain	IPR004100	ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain
Domain	IPR033732	ATP synthase, F1 complex, alpha subunit nucleotide-binding domain
Family	IPR005294	ATP synthase, F1 complex, alpha subunit
Homologous_superfamily	IPR023366	ATP synthase subunit alpha, N-terminal domain-like superfamily
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily	IPR036121	ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain superfamily
Homologous_superfamily	IPR038376	ATP synthase, alpha subunit, C-terminal domain superfamily