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

Gene ID: 93974, updated on 9-Jul-2021

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
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
This gene encodes a mitochondrial ATPase inhibitor. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 44.4), colon (RPKM 33.7) and 25 other tissues See more
Orthologs
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Genomic context

See ATP5IF1 in Genome Data Viewer
Location:
1p35.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (28236124..28238100)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (28562635..28564611)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene platelet activating factor receptor Neighboring gene DnaJ heat shock protein family (Hsp40) member C8 Neighboring gene sestrin 2 Neighboring gene mediator complex subunit 18

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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 
enables protein homodimerization activity TAS
Traceable Author Statement
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
PubMed 
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 ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of ATPase 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 cellular 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
PubMed 
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

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)

NEW Try the new Transcript table

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_016311.5NP_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
    Q9UII2
    Related
    ENSP00000335203.5, ENST00000335514.10
    Conserved Domains (1) summary
    pfam04568
    Location:3687
    IATP; Mitochondrial ATPase inhibitor, IATP
  2. NM_178190.3NP_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/Swiss-Prot
    Q9UII2
    Related
    ENSP00000435579.1, ENST00000497986.5
    Conserved Domains (1) summary
    pfam04568
    Location:3660
    IATP; Mitochondrial ATPase inhibitor, IATP
  3. NM_178191.3NP_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/Swiss-Prot
    Q9UII2
    Related
    ENSP00000437337.1, ENST00000465645.1
    Conserved Domains (1) summary
    pfam04568
    Location:3660
    IATP; Mitochondrial ATPase inhibitor, IATP

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654706.1 Reference GRCh38.p13 PATCHES

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