ATP5IF1 ATP synthase inhibitory factor subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP5IF1provided by HGNC
Official Full Name: ATP synthase inhibitory factor subunit 1provided by HGNC
Primary source: HGNC:HGNC:871
See related: Ensembl:ENSG00000130770 MIM:614981; AllianceGenome:HGNC:871
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IP; ATPI; ATPIP; ATPIF1
Summary: Enables several functions, including ATPase binding activity; angiostatin binding activity; and mitochondrial proton-transporting ATP synthase complex binding activity. Involved in several processes, including mitochondrial depolarization; negative regulation of ATPase activity; and regulation of protein targeting to mitochondrion. Located in cell surface and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney (RPKM 44.4), colon (RPKM 33.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p35.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (28236124..28238100)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (28077959..28079935)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (28562635..28564611)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The inhibitor protein IF1 from mammalian mitochondria inhibits ATP hydrolysis but not ATP synthesis by the ATP synthase complex.
Title: The inhibitor protein IF(1) from mammalian mitochondria inhibits ATP hydrolysis but not ATP synthesis by the ATP synthase complex.
Longitudinal Associations Between ATPase Inhibitory Factor 1, Growth Differentiation Factor-15, and Nutritional Status in Older Adults From the MAPT Study.
Title: Longitudinal Associations Between ATPase Inhibitory Factor 1, Growth Differentiation Factor-15, and Nutritional Status in Older Adults From the MAPT Study.
The pro-oncogenic protein IF1 does not contribute to the Warburg effect and is not regulated by PKA in cancer cells.
Title: The pro-oncogenic protein IF(1) does not contribute to the Warburg effect and is not regulated by PKA in cancer cells.
IF1 ablation prevents ATP synthase oligomerization, enhances mitochondrial ATP turnover and promotes an adenosine-mediated pro-inflammatory phenotype.
Title: IF1 ablation prevents ATP synthase oligomerization, enhances mitochondrial ATP turnover and promotes an adenosine-mediated pro-inflammatory phenotype.
ATPase Inhibitory Factor 1-A Novel Marker of Cellular Fitness and Exercise Capacity?
Title: ATPase Inhibitory Factor 1-A Novel Marker of Cellular Fitness and Exercise Capacity?
Circulating Inhibitory Factor 1 levels in adult patients with Prader-Willi syndrome.
Title: Circulating Inhibitory Factor 1 levels in adult patients with Prader-Willi syndrome.
The F1Fo-ATPase inhibitor, IF1, is a critical regulator of energy metabolism in cancer cells.
Title: The F1Fo-ATPase inhibitor, IF1, is a critical regulator of energy metabolism in cancer cells.
ATPase Inhibitory Factor-1 Disrupts Mitochondrial Ca(2+) Handling and Promotes Pathological Cardiac Hypertrophy through CaMKIIdelta.
Title: ATPase Inhibitory Factor-1 Disrupts Mitochondrial Ca(2+) Handling and Promotes Pathological Cardiac Hypertrophy through CaMKIIδ.
Inhibition of the mitochondrial ATPase function by IF1 changes the spatiotemporal organization of ATP synthase.
Title: Inhibition of the mitochondrial ATPase function by IF1 changes the spatiotemporal organization of ATP synthase.
Atpif1 gene is involved in the regulation of hemoglobin synthesis
Title: [Effects of Atpif1 gene on hemoglobin synthesis in K562 cells].

Submit: New GeneRIF Correction See all GeneRIFs (40)

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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Markers

D1S3569 (e-PCR)
- UniSTS:25472

SHGC-153535 (e-PCR)
- UniSTS:177803

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase binding	IDA Inferred from Direct Assay more info	PubMed
enables ATPase binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATPase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables ATPase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATPase inhibitor activity	ISS Inferred from Sequence or Structural Similarity more info
enables angiostatin binding	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	ISS Inferred from Sequence or Structural Similarity more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables enzyme inhibitor activity	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables mitochondrial proton-transporting ATP synthase complex binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	TAS Traceable Author Statement more info	PubMed
involved_in erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in generation of precursor metabolites and energy	TAS Traceable Author Statement more info	PubMed
involved_in heme biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in heme biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ATP-dependent activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of ATP-dependent activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of hydrolase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of proteolysis involved in protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in reactive oxygen species metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of ATP metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein targeting to mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
part_of protein-containing complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: ATPase inhibitor, mitochondrial

Names: ATP synthase F1 subunit epsilon; ATP synthase inhibitor protein; ATPase inhibitor protein; ATPase inhibitory factor 1; IF(1); IF1; inhibitor of F(1)F(o)-ATPase

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_016311.5 → NP_057395.1 ATPase inhibitor, mitochondrial isoform 1 precursor

See identical proteins and their annotated locations for NP_057395.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

BP271519

Consensus CDS

CCDS319.1

UniProtKB/Swiss-Prot

Q5JXL8, Q6IAQ7, Q9BSL9, Q9UII2

Related

ENSP00000335203.5, ENST00000335514.10

Conserved Domains (1) summary

pfam04568
Location:36 → 87

IATP; Mitochondrial ATPase inhibitor, IATP
NM_178190.3 → NP_835497.1 ATPase inhibitor, mitochondrial isoform 2 precursor

See identical proteins and their annotated locations for NP_835497.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region resulting in a frameshift, compared to variant 1. It encodes isoform 2 which has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AL583540, DB030607

Consensus CDS

CCDS320.1

UniProtKB/TrEMBL

A0A0B4J230

Related

ENSP00000435579.1, ENST00000497986.5

Conserved Domains (1) summary

pfam04568
Location:36 → 60

IATP; Mitochondrial ATPase inhibitor, IATP
NM_178191.3 → NP_835498.1 ATPase inhibitor, mitochondrial isoform 3 precursor

See identical proteins and their annotated locations for NP_835498.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) includes an alternate segment that causes a frameshift, compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK000934, AL050386, DB030607

Consensus CDS

CCDS44096.1

UniProtKB/TrEMBL

A0A0B4J230

Related

ENSP00000437337.1, ENST00000465645.1

Conserved Domains (1) summary

pfam04568
Location:36 → 60

IATP; Mitochondrial ATPase inhibitor, IATP