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ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 [ Homo sapiens (human) ]

Gene ID: 64756, updated on 23-Nov-2021

Summary

Official Symbol
ATPAF1provided by HGNC
Official Full Name
ATP synthase mitochondrial F1 complex assembly factor 1provided by HGNC
Primary source
HGNC:HGNC:18803
See related
Ensembl:ENSG00000123472 MIM:608917
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
ATP11; ATP11p
Summary
This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
Expression
Ubiquitous expression in heart (RPKM 65.7), adrenal (RPKM 34.6) and 25 other tissues See more
Orthologs
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Genomic context

See ATPAF1 in Genome Data Viewer
Location:
1p33
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (46632737..46668557, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47098409..47134115, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MOB kinase activator 3C Neighboring gene uncharacterized LOC105378697 Neighboring gene neudesin neurotrophic factor pseudogene 1 Neighboring gene EFCAB14 antisense RNA 1 Neighboring gene testis expressed 38 Neighboring gene EF-hand calcium binding domain 14 Neighboring gene uncharacterized LOC105378698

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22351, FLJ55378, FLJ60653, MGC88060

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in mitochondrial proton-transporting ATP synthase complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ATP synthase mitochondrial F1 complex assembly factor 1
Names
homolog of yeast ATP11

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_001042546.2NP_001036011.2  ATP synthase mitochondrial F1 complex assembly factor 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 3' coding region, compared to variant 1, resulting in a shorter isoform (2), compared to isoform 1.
    Source sequence(s)
    AI188403, BC071731, DA244814, DB483450
    Consensus CDS
    CCDS41327.2
    UniProtKB/Swiss-Prot
    Q5TC12
    UniProtKB/TrEMBL
    A8MRA7
    Related
    ENSP00000330685.4, ENST00000329231.8
    Conserved Domains (1) summary
    pfam06644
    Location:83264
    ATP11; ATP11 protein
  2. NM_001243728.1NP_001230657.1  ATP synthase mitochondrial F1 complex assembly factor 1 isoform 3

    See identical proteins and their annotated locations for NP_001230657.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK302090, AL136373, BC071731, DB448244
    Consensus CDS
    CCDS57998.1
    UniProtKB/Swiss-Prot
    Q5TC12
    Related
    ENSP00000435732.1, ENST00000532925.5
    Conserved Domains (1) summary
    pfam06644
    Location:36221
    ATP11; ATP11 protein
  3. NM_001256418.1NP_001243347.1  ATP synthase mitochondrial F1 complex assembly factor 1 isoform 4

    See identical proteins and their annotated locations for NP_001243347.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (4) is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AI188403, AK301874, BC071731, DB448244
    Consensus CDS
    CCDS57997.1
    UniProtKB/Swiss-Prot
    Q5TC12
    Related
    ENSP00000443588.1, ENST00000542495.5
    Conserved Domains (1) summary
    pfam06644
    Location:2156
    ATP11; ATP11 protein
  4. NM_001394565.1NP_001381494.1  ATP synthase mitochondrial F1 complex assembly factor 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL136373, AL593856
    Conserved Domains (1) summary
    pfam06644
    Location:60307
    ATP11; ATP11 protein
  5. NM_022745.6NP_073582.3  ATP synthase mitochondrial F1 complex assembly factor 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL136373, AL593856
    Consensus CDS
    CCDS541.2
    UniProtKB/Swiss-Prot
    Q5TC12
    UniProtKB/TrEMBL
    I3L448
    Related
    ENSP00000460964.1, ENST00000576409.5
    Conserved Domains (1) summary
    pfam06644
    Location:83332
    ATP11; ATP11 protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    46632737..46668557 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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