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AFG1L AFG1 like ATPase [ Homo sapiens (human) ]

Gene ID: 246269, updated on 7-Jun-2020

Summary

Official Symbol
AFG1Lprovided by HGNC
Official Full Name
AFG1 like ATPaseprovided by HGNC
Primary source
HGNC:HGNC:16411
See related
Ensembl:ENSG00000135537 MIM:617469
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
AFG1; LACE1; c222389
Summary
This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]
Expression
Broad expression in testis (RPKM 1.7), kidney (RPKM 1.0) and 25 other tissues See more
Orthologs

Genomic context

See AFG1L in Genome Data Viewer
Location:
6q21
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (108294881..108526001)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (108616098..108846751)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene sorting nexin 3 Neighboring gene RNA, 5S ribosomal pseudogene 212 Neighboring gene RNA, U6 small nuclear 1144, pseudogene Neighboring gene ribosomal protein L36a pseudogene 24 Neighboring gene uncharacterized LOC105377932 Neighboring gene translocase of outer mitochondrial membrane 5 homolog (yeast) pseudogene Neighboring gene RNA, U6 small nuclear 770, pseudogene Neighboring gene Sharpr-MPRA regulatory region 14072 Neighboring gene forkhead box O3 Neighboring gene SUMO2 pseudogene 8

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?

Phenotypes

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mitochondrial electron transport, cytochrome c to oxygen IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
AFG1-like ATPase
Names
ATPase family gene 1 homolog
CG8520 gene product
lactation elevated 1
lactation elevated protein 1

NCBI Reference Sequences (RefSeq)

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_001323005.2NP_001309934.1  AFG1-like ATPase isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AL139106, AL832793, BC018445, FN063830
    UniProtKB/Swiss-Prot
    Q8WV93
    Conserved Domains (1) summary
    COG1485
    Location:73425
    YhcM; Predicted ATPase [General function prediction only]
  2. NM_145315.5NP_660358.2  AFG1-like ATPase isoform a

    See identical proteins and their annotated locations for NP_660358.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL139106, BC018445, FN063830
    Consensus CDS
    CCDS5067.1
    UniProtKB/Swiss-Prot
    Q8WV93
    Related
    ENSP00000357973.3, ENST00000368977.9
    Conserved Domains (1) summary
    COG1485
    Location:73472
    YhcM; Predicted ATPase [General function prediction only]

RNA

  1. NR_136553.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks four internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL139106, AL356121, BC018445, BI754108, BP246728, FN063830

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    108294881..108526001
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010649.1XP_016866138.1  AFG1-like ATPase isoform X3

    Conserved Domains (2) summary
    COG1485
    Location:1329
    YhcM; Predicted ATPase [General function prediction only]
    cl21455
    Location:1329
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. XM_011535657.2XP_011533959.1  AFG1-like ATPase isoform X2

    Conserved Domains (2) summary
    COG1485
    Location:73438
    YhcM; Predicted ATPase [General function prediction only]
    cl21455
    Location:75438
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. XM_024446391.1XP_024302159.1  AFG1-like ATPase isoform X4

    Conserved Domains (1) summary
    COG1485
    Location:6284
    YhcM; Predicted ATPase [General function prediction only]
  4. XM_011535660.2XP_011533962.1  AFG1-like ATPase isoform X6

    Conserved Domains (1) summary
    cl21455
    Location:75271
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  5. XM_011535659.3XP_011533961.1  AFG1-like ATPase isoform X5

    Conserved Domains (1) summary
    cl21455
    Location:75269
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  6. XM_011535661.2XP_011533963.1  AFG1-like ATPase isoform X7

    See identical proteins and their annotated locations for XP_011533963.1

    Conserved Domains (1) summary
    cl21455
    Location:75250
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  7. XM_017010647.2XP_016866136.1  AFG1-like ATPase isoform X1

    Conserved Domains (2) summary
    COG1485
    Location:40439
    YhcM; Predicted ATPase [General function prediction only]
    cl21455
    Location:42439
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  8. XM_005266885.3XP_005266942.1  AFG1-like ATPase isoform X1

    Conserved Domains (2) summary
    COG1485
    Location:40439
    YhcM; Predicted ATPase [General function prediction only]
    cl21455
    Location:42439
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  9. XM_017010648.1XP_016866137.1  AFG1-like ATPase isoform X3

    Related
    ENSP00000398225.1, ENST00000421954.5
    Conserved Domains (2) summary
    COG1485
    Location:1329
    YhcM; Predicted ATPase [General function prediction only]
    cl21455
    Location:1329
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
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