ATP5MGL ATP synthase membrane subunit g like [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP5MGLprovided by HGNC
Official Full Name: ATP synthase membrane subunit g likeprovided by HGNC
Primary source: HGNC:HGNC:13213
See related: Ensembl:ENSG00000249222 AllianceGenome:HGNC:13213
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ATP5K2; ATP5L2
Summary: Predicted to enable proton transmembrane transporter activity. Predicted to be involved in ATP synthesis coupled proton transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: 22q13.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (42639803..42640601, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (43120674..43121476, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (43035809..43036607, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to proton-transporting ATP synthase activity, rotational mechanism	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in proton motive force-driven ATP synthesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in proton motive force-driven ATP synthesis	NAS Non-traceable Author Statement more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
part_of mitochondrial proton-transporting ATP synthase complex	NAS Non-traceable Author Statement more info	PubMed
part_of mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: putative ATP synthase subunit g 2, mitochondrial

Names: ATP synthase membrane subunit g-like protein; ATP synthase subunit g 2, mitochondrial; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 pseudogene; ATP synthase, H+ transporting, mitochondrial F1F0, subunit g; ATP synthase, H+ transporting, mitochondrial Fo complex subunit G2; ATPase subunit g 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_001165877.1 → NP_001159349.1 putative ATP synthase subunit g 2, mitochondrial

See identical proteins and their annotated locations for NP_001159349.1

Status: VALIDATED

Source sequence(s)

AF092923

Consensus CDS

CCDS54534.1

UniProtKB/Swiss-Prot

Q7Z4Y8

Related

ENSP00000421076.1, ENST00000505920.1

Conserved Domains (1) summary

pfam04718
Location:16 → 100

ATP-synt_G; Mitochondrial ATP synthase g subunit

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

42639803..42640601 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

43120674..43121476 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NG_004718.4: Suppressed sequence

Description

NG_004718.4: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
NM_198822.1: Suppressed sequence

Description

NM_198822.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.