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 o... See more...

Aliases for AFG1L Gene

Aliases for AFG1L Gene

  • AFG1 Like ATPase 2 3 5
  • AFG1 2 3 4
  • Lactation Elevated Protein 1 3 4
  • Lactation Elevated 1 2 3
  • AFG1-Like ATPase 3 4
  • LACE1 3 4
  • ATPase Family Gene 1 Homolog (S. Cerevisiae) 2
  • ATPase Family Gene 1 Homolog 3
  • Protein AFG1 Homolog 4
  • CG8520 Gene Product 3
  • EC 3.6.-.- 4
  • C222389 3
  • AFG1L 5

External Ids for AFG1L Gene

Previous HGNC Symbols for AFG1L Gene

  • LACE1

Previous GeneCards Identifiers for AFG1L Gene

  • GC06P108295
  • GC06P108298

Summaries for AFG1L Gene

Entrez Gene Summary for AFG1L Gene

  • 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]

GeneCards Summary for AFG1L Gene

AFG1L (AFG1 Like ATPase) is a Protein Coding gene. Diseases associated with AFG1L include Kwashiorkor and Bipolar Disorder.

UniProtKB/Swiss-Prot Summary for AFG1L Gene

  • Putative mitochondrial ATPase. Plays a role in mitochondrial morphology and mitochondrial protein metabolism. Promotes degradation of excess nuclear-encoded complex IV subunits (COX4I1, COX5A and COX6A1) and normal activity of complexes III and IV of the respiratory chain (PubMed:26759378, PubMed:27323408). Mediates mitochondrial translocation of TP53 and its transcription-independent apoptosis in response to genotoxic stress (PubMed:27323408).

Additional gene information for AFG1L Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AFG1L Gene

Genomics for AFG1L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AFG1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J108293 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 606 +0.4 420 3 ZNF221 HNRNPL CREB1 PRDM10 ZNF629 TFE3 RFX1 SIX5 LEF1 IKZF1 AFG1L SNX3 SEC63 RPL36AP24 MN298114-216 FOXO3
GH06J108941 Enhancer 1.1 ENCODE CraniofacialAtlas dbSUPER 5.1 +650.7 650705 7.3 CEBPG CREB1 ZNF692 TARDBP ZHX2 FOXA1 RFX1 ZIC2 PKNOX1 SP1 SMPD2 ARMC2-AS1 ZBTB24 RNU6-653P ENSG00000271734 ARMC2 AFG1L lnc-SESN1-4 SESN1
GH06J108329 Enhancer 0.6 ENCODE dbSUPER 5.5 +36.5 36493 3.2 SP1 HNF4A RXRA ZBTB40 ZNF121 piR-38579-038 AFG1L ENSG00000279498 NONHSAG044548.2 MN298114-216 FOXO3
GH06J108275 Enhancer 0.5 ENCODE 6.3 -18.6 -18642 1.1 NR2C1 NR2C2 NR2F1 NR2F6 TRIM28 CBFA2T3 ENSG00000230248 piR-57135-052 AFG1L SNX3 RF00017-5718 MN298114-216
GH06J108301 Enhancer 0.3 ENCODE dbSUPER 5.2 +7.5 7456 2.3 SNX3 NR2E1 OSTM1 SEC63 AFG1L RPL36AP24 MN298114-216 FOXO3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AFG1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AFG1L

Genomic Locations for AFG1L Gene

Genomic Locations for AFG1L Gene
chr6:108,294,881-108,526,796
(GRCh38/hg38)
Size:
231,916 bases
Orientation:
Plus strand
chr6:108,616,098-108,847,999
(GRCh37/hg19)
Size:
231,902 bases
Orientation:
Plus strand

Genomic View for AFG1L Gene

Genes around AFG1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AFG1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AFG1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AFG1L Gene

Proteins for AFG1L Gene

  • Protein details for AFG1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WV93-AFG1L_HUMAN
    Recommended name:
    AFG1-like ATPase
    Protein Accession:
    Q8WV93
    Secondary Accessions:
    • Q8N6A3

    Protein attributes for AFG1L Gene

    Size:
    481 amino acids
    Molecular mass:
    54845 Da
    Quaternary structure:
    • Found in several complexes of 140-500 kDa. Interacts with YME1L1 (PubMed:26759378). Interacts with COX4I1 (PubMed:26759378). Interacts with COX5A (PubMed:26759378). Interacts with TP53; mediates mitochondrial translocation of TP53 in response to genotoxic stress such as mitomycin C treatment (PubMed:27323408).

neXtProt entry for AFG1L Gene

Post-translational modifications for AFG1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AFG1L Gene

Domains & Families for AFG1L Gene

Gene Families for AFG1L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AFG1L Gene

InterPro:
Blocks:
  • AFG1-like ATPase
ProtoNet:

Suggested Antigen Peptide Sequences for AFG1L Gene

GenScript: Design optimal peptide antigens:
  • Lactation elevated 1 (A6PVM0_HUMAN)
  • Lactation elevated protein 1 (LACE1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WV93

UniProtKB/Swiss-Prot:

AFG1L_HUMAN :
  • Belongs to the AFG1 ATPase family.
Family:
  • Belongs to the AFG1 ATPase family.
genes like me logo Genes that share domains with AFG1L: view

Function for AFG1L Gene

Molecular function for AFG1L Gene

UniProtKB/Swiss-Prot Function:
Putative mitochondrial ATPase. Plays a role in mitochondrial morphology and mitochondrial protein metabolism. Promotes degradation of excess nuclear-encoded complex IV subunits (COX4I1, COX5A and COX6A1) and normal activity of complexes III and IV of the respiratory chain (PubMed:26759378, PubMed:27323408). Mediates mitochondrial translocation of TP53 and its transcription-independent apoptosis in response to genotoxic stress (PubMed:27323408).

Enzyme Numbers (IUBMB) for AFG1L Gene

Phenotypes From GWAS Catalog for AFG1L Gene

Gene Ontology (GO) - Molecular Function for AFG1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0016887 ATPase activity IBA 21873635
genes like me logo Genes that share ontologies with AFG1L: view
genes like me logo Genes that share phenotypes with AFG1L: view

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AFG1L Gene

Localization for AFG1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for AFG1L Gene

Mitochondrion membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AFG1L gene
Compartment Confidence
mitochondrion 5
cytosol 3
plasma membrane 2
peroxisome 2
nucleus 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AFG1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IBA,IDA 27323408
GO:0016020 membrane IEA --
GO:0031966 mitochondrial membrane IEA,IDA 26759378
genes like me logo Genes that share ontologies with AFG1L: view

Pathways & Interactions for AFG1L Gene

PathCards logo

SuperPathways for AFG1L Gene

No Data Available

Gene Ontology (GO) - Biological Process for AFG1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen IMP 27323408
GO:0007005 mitochondrion organization IMP 26759378
GO:0035694 mitochondrial protein catabolic process IMP 26759378
genes like me logo Genes that share ontologies with AFG1L: view

No data available for Pathways by source and SIGNOR curated interactions for AFG1L Gene

Drugs & Compounds for AFG1L Gene

No Compound Related Data Available

Transcripts for AFG1L Gene

mRNA/cDNA for AFG1L Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for AFG1L Gene

No ASD Table

Relevant External Links for AFG1L Gene

GeneLoc Exon Structure for
AFG1L

Expression for AFG1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AFG1L

Evidence on tissue expression from TISSUES for AFG1L Gene

  • Eye(4.1)
  • Liver(2.2)
genes like me logo Genes that share expression patterns with AFG1L: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AFG1L Gene

Orthologs for AFG1L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AFG1L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LACE1 30 31
  • 99.93 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LACE1 30 31
  • 93.06 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LACE1 30 31
  • 91.6 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Lace1 30 31
  • 87.99 (n)
OneToOne
Afg1l 17
Rat
(Rattus norvegicus)
Mammalia Lace1 30
  • 85.83 (n)
Oppossum
(Monodelphis domestica)
Mammalia LACE1 31
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LACE1 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LACE1 30 31
  • 80.15 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LACE1 31
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lace1 30
  • 69.39 (n)
Zebrafish
(Danio rerio)
Actinopterygii lace1a 30 31
  • 67.57 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009867 30
  • 53.13 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG8520 30 31
  • 52.25 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea C30F12.2 30 31
  • 52.81 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AFG1 30 31 33
  • 49.92 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A01947g 30
  • 48.26 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AAR132C 30
  • 46.71 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G30490 30
  • 51.75 (n)
Rice
(Oryza sativa)
Liliopsida Os08g0265500 30
  • 50.91 (n)
Os.14911 30
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC115.02c 30
  • 47.88 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU04481 30
  • 47.85 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6918 31
  • 42 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2052 30
Species where no ortholog for AFG1L was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for AFG1L Gene

ENSEMBL:
Gene Tree for AFG1L (if available)
TreeFam:
Gene Tree for AFG1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AFG1L: view image

Paralogs for AFG1L Gene

No data available for Paralogs for AFG1L Gene

Variants for AFG1L Gene

Additional dbSNP identifiers (rs#s) for AFG1L Gene

Structural Variations from Database of Genomic Variants (DGV) for AFG1L Gene

Variant ID Type Subtype PubMed ID
dgv3362n106 CNV deletion 24896259
esv2732558 CNV deletion 23290073
esv2732559 CNV deletion 23290073
esv3435603 CNV insertion 20981092
esv3540290 CNV deletion 23714750
esv3610317 CNV gain 21293372
esv3610318 CNV loss 21293372
esv3610321 CNV loss 21293372
esv3610322 CNV loss 21293372
esv3610323 CNV gain 21293372
nsv1074005 CNV deletion 25765185
nsv1076603 CNV duplication 25765185
nsv1128269 CNV deletion 24896259
nsv1137136 CNV deletion 24896259
nsv604466 CNV loss 21841781
nsv604475 CNV loss 21841781
nsv830766 CNV loss 17160897
nsv830767 CNV gain 17160897

Variation tolerance for AFG1L Gene

Residual Variation Intolerance Score: 70.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.32; 53.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AFG1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AFG1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AFG1L Gene

Disorders for AFG1L Gene

MalaCards: The human disease database

(5) MalaCards diseases for AFG1L Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
kwashiorkor
  • kwashiokor
bipolar disorder
  • major affective disorder 1
marasmus
  • nutritional atrophy
estrogen excess
  • hyperestrogenism
griscelli syndrome, type 2
  • gs2
- elite association - COSMIC cancer census association via MalaCards
Search AFG1L in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with AFG1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AFG1L Gene

Publications for AFG1L Gene

  1. Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci. (PMID: 12079282) Abrahams BS … Venkatesh B (Genomics 2002) 2 3 4
  2. LACE1 interacts with p53 and mediates its mitochondrial translocation and apoptosis. (PMID: 27323408) Cesnekova J … Stiburek L (Oncotarget 2016) 3 4
  3. The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits. (PMID: 26759378) Cesnekova J … Stiburek L (The Biochemical journal 2016) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3

Products for AFG1L Gene

Sources for AFG1L Gene