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Aliases for AFG1L Gene

Aliases for AFG1L Gene

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

External Ids for AFG1L Gene

Previous HGNC Symbols for AFG1L Gene

  • LACE1

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 Bipolar Disorder.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for AFG1L Gene

Genomics for AFG1L Gene

GeneHancer (GH) Regulatory Elements for AFG1L Gene

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
GH06I108293 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 556.1 +0.2 224 2.4 DMAP1 IRF4 YY1 ZNF213 ZNF143 SP3 ZNF610 GLIS1 NBN NR2C1 AFG1L SNX3 SEC63 RPL36AP24
GH06I108941 Enhancer 1.2 Ensembl ENCODE dbSUPER 5.1 +650.7 650692 7.3 PKNOX1 ATF1 NFIB NEUROD1 BMI1 RFX5 SCRT2 FOS RCOR1 GATAD2B SMPD2 ARMC2-AS1 ZBTB24 RNU6-653P LOC105377929 ARMC2 AFG1L PIR34191
GH06I108329 Enhancer 0.7 ENCODE dbSUPER 5.4 +36.5 36480 3.2 ZNF121 RXRA HNF4A ZBTB40 AFG1L ENSG00000238055 LOC100506224
GH06I108275 Enhancer 0.4 ENCODE 6.3 -18.7 -18655 1.1 CBFA2T3 NR2C1 NR2C2 ENSG00000230248 AFG1L GC06P108293
GH06I108301 Enhancer 0.4 ENCODE dbSUPER 5.2 +7.4 7443 2.3 SNX3 OSTM1 NR2E1 SEC63 AFG1L RPL36AP24
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AFG1L on UCSC Golden Path with GeneCards custom track

Genomic Locations for AFG1L Gene

Genomic Locations for AFG1L Gene
chr6:108,294,894-108,526,796
(GRCh38/hg38)
Size:
231,903 bases
Orientation:
Plus strand
chr6:108,616,098-108,847,999
(GRCh37/hg19)

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
  • Predicted secreted proteins

Protein Domains for AFG1L Gene

Suggested Antigen Peptide Sequences for AFG1L Gene

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:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with AFG1L: view
genes like me logo Genes that share phenotypes with AFG1L: view

Animal Model Products

Inhibitory RNA Products

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 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

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:0005739 mitochondrion IDA,IEA 27323408
GO:0016020 membrane IEA --
GO:0031966 mitochondrial membrane IDA,IEA 26759378
genes like me logo Genes that share ontologies with AFG1L: view

Pathways & Interactions for AFG1L Gene

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

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for AFG1L Gene

GeneLoc Exon Structure for
AFG1L
ECgene alternative splicing isoforms for
AFG1L

Expression for AFG1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of AFG1L Gene:

AFG1L

Evidence on tissue expression from TISSUES for AFG1L Gene

  • Eye(4.1)
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 34 33
  • 99.93 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LACE1 33 34
  • 93.06 (n)
dog
(Canis familiaris)
Mammalia LACE1 33 34
  • 91.6 (n)
mouse
(Mus musculus)
Mammalia Lace1 34 33
  • 87.99 (n)
OneToOne
Afg1l 16
rat
(Rattus norvegicus)
Mammalia Lace1 33
  • 85.83 (n)
oppossum
(Monodelphis domestica)
Mammalia LACE1 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LACE1 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves LACE1 33 34
  • 80.15 (n)
lizard
(Anolis carolinensis)
Reptilia LACE1 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lace1 33
  • 69.39 (n)
zebrafish
(Danio rerio)
Actinopterygii lace1a 33 34
  • 67.57 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009867 33
  • 53.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8520 34 33
  • 52.25 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C30F12.2 33 34
  • 52.81 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AFG1 33 34 36
  • 49.92 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A01947g 33
  • 48.26 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR132C 33
  • 46.71 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G30490 33
  • 51.75 (n)
rice
(Oryza sativa)
Liliopsida Os08g0265500 33
  • 50.91 (n)
Os.14911 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC115.02c 33
  • 47.88 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04481 33
  • 47.85 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6918 34
  • 42 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2052 33
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)

Paralogs for AFG1L Gene

No data available for Paralogs for AFG1L Gene

Variants for AFG1L Gene

Sequence variations from dbSNP and Humsavar for AFG1L Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000002384 -- 108,405,913(+) T/A genic_downstream_transcript_variant, intron_variant
rs1000010548 -- 108,442,286(+) G/C genic_downstream_transcript_variant, intron_variant
rs1000013425 -- 108,347,233(+) C/G intron_variant
rs1000015980 -- 108,397,739(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000025317 -- 108,300,057(+) AA/ genic_upstream_transcript_variant, intron_variant

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 for AFG1L Gene

Disorders for AFG1L Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
bipolar disorder
  • major affective disorder 1
- 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 58
  2. 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 58
  3. LACE1 interacts with p53 and mediates its mitochondrial translocation and apoptosis. (PMID: 27323408) Cesnekova J … Stiburek L (Oncotarget 2016) 3 4 58
  4. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for AFG1L Gene

Sources for AFG1L Gene

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