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

Gene ID: 93974, updated on 7-Apr-2024

Summary

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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

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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_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:28474708-28475208 Neighboring gene platelet activating factor receptor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 535 Neighboring gene DnaJ heat shock protein family (Hsp40) member C8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28559230-28559763 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28561534-28562040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:28572195-28572694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 593 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28576752-28577625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 594 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28585772-28586620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 537 Neighboring gene sestrin 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:28616419-28617413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 595 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:28640148-28640648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28655585-28656092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28656093-28656600 Neighboring gene mediator complex subunit 18

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. ATPase Inhibitory Factor 1-A Novel Marker of Cellular Fitness and Exercise Capacity? Domin R, et al. Int J Mol Sci, 2022 Dec 4. PMID 36499630, Free PMC Article
  2. Circulating Inhibitory Factor 1 levels in adult patients with Prader-Willi syndrome. Delvecchio M, et al. Horm Mol Biol Clin Investig, 2021 Mar 5. PMID 33675216
  3. Inhibition of the mitochondrial ATPase function by IF1 changes the spatiotemporal organization of ATP synthase. Weissert V, et al. Biochim Biophys Acta Bioenerg, 2021 Jan 1. PMID 33065099, Free PMC Article
  4. [Effects of Atpif1 gene on hemoglobin synthesis in K562 cells]. Luo Q, et al. Zhongguo Ying Yong Sheng Li Xue Za Zhi, 2019 Sep. PMID 31894674
  5. Tissue-specific expression and post-transcriptional regulation of the ATPase inhibitory factor 1 (IF1) in human and mouse tissues. Esparza-Moltó PB, et al. FASEB J, 2019 Feb. PMID 30204502

See all (87) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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?
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC1167, MGC8898

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 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)

  1. 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

  2. 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

  3. 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

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

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    28236124..28238100
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654706.1 Reference GRCh38.p14 PATCHES

    Range
    29768..31744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    28077959..28079935
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UII2.1 GenPept UniProtKB/Swiss-Prot:Q9UII2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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