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Aliases for AFG1L Gene

Aliases for AFG1L Gene

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

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AFG1L Gene

Genomics for AFG1L Gene

Regulatory Elements for AFG1L Gene

Enhancers for AFG1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G108293 1.2 ENCODE 6.1 +0.2 224 2.4 CREB3L1 DMAP1 YY1 ZNF143 SP3 TBX21 ZNF610 GLIS1 NBN NR2C1 SNX3 AFG1L RPL36AP24
GH06G108941 1.4 Ensembl ENCODE dbSUPER 5.1 +650.7 650692 7.3 PKNOX1 ATF1 CBX3 NFIB BMI1 RAD21 CHAMP1 CBX5 SCRT2 FOS ARMC2-AS1 RNU6-653P ARMC2 AFG1L PIR34191
GH06G108329 1 ENCODE dbSUPER 5.4 +36.5 36480 3.2 CEBPG ZBTB40 RAD21 ZNF121 ZFHX2 FOS ZNF600 MAFK EGR2 MTA2 AFG1L ENSG00000238055 LOC100506224
GH06G108301 1 ENCODE dbSUPER 5.2 +7.4 7443 2.3 ZNF263 CTCF BHLHE40 MAX RAD21 YY1 FOSL1 JUND ATF3 HNF4G SNX3 OSTM1 NR2E1 SEC63 AFG1L RPL36AP24
GH06G108275 0.7 ENCODE 6.3 -18.7 -18655 1.1 MTA2 NR2F1 BHLHE40 HLF JUNB YY1 FOSL1 ARID3A RAD51 TARDBP AFG1L ENSG00000230248 GC06P108293
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AFG1L on UCSC Golden Path with GeneCards custom track

Promoters for AFG1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000200802 306 2001 CREB3L1 DMAP1 YY1 ZNF143 SP3 TBX21 ZNF610 GLIS1 NBN NR2C1

Genomic Location for AFG1L Gene

Chromosome:
6
Start:
108,294,894 bp from pter
End:
108,526,796 bp from pter
Size:
231,903 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-LACE1_HUMAN
    Recommended name:
    Lactation elevated protein 1
    Protein Accession:
    Q8WV93
    Secondary Accessions:
    • Q8N6A3

    Protein attributes for AFG1L Gene

    Size:
    481 amino acids
    Molecular mass:
    54845 Da
    Quaternary structure:
    No Data Available

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

Protein Domains for AFG1L Gene

Suggested Antigen Peptide Sequences for AFG1L Gene

Graphical View of Domain Structure for InterPro Entry

Q8WV93

UniProtKB/Swiss-Prot:

LACE1_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

No data available for Gene Families for AFG1L Gene

Function 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 --
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

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AFG1L Gene

Localization for AFG1L Gene

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 3
cytosol 3
plasma membrane 2
peroxisome 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for AFG1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with AFG1L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for AFG1L Gene

Pathways & Interactions for AFG1L Gene

SuperPathways for AFG1L Gene

No Data Available

Gene Ontology (GO) - Biological Process for AFG1L Gene

None

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

CRISPR Products

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 35 34
  • 99.93 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LACE1 35 34
  • 93.06 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LACE1 35 34
  • 91.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lace1 35 34
  • 87.99 (n)
OneToOne
Afg1l 16
rat
(Rattus norvegicus)
Mammalia Lace1 34
  • 85.83 (n)
oppossum
(Monodelphis domestica)
Mammalia LACE1 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LACE1 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves LACE1 35 34
  • 80.15 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LACE1 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lace1 34
  • 69.39 (n)
zebrafish
(Danio rerio)
Actinopterygii lace1a 35 34
  • 67.57 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009867 34
  • 53.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8520 34 35
  • 52.25 (n)
worm
(Caenorhabditis elegans)
Secernentea C30F12.2 34 35
  • 52.81 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AFG1 34 35 37
  • 49.92 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A01947g 34
  • 48.26 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR132C 34
  • 46.71 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G30490 34
  • 51.75 (n)
rice
(Oryza sativa)
Liliopsida Os08g0265500 34
  • 50.91 (n)
Os.14911 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC115.02c 34
  • 47.88 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04481 34
  • 47.85 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6918 35
  • 42 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2052 34
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 Sequence Context AA Info Type
rs1000002384 -- 108,405,913(+) TCACT(A/T)AGCAC intron-variant
rs1000010548 -- 108,442,286(+) ACACA(C/G)AACAT intron-variant
rs1000013425 -- 108,347,233(+) TACAG(C/G)TGTAG intron-variant
rs1000015980 -- 108,397,739(+) CATTT(C/T)ACTTA intron-variant
rs1000025317 -- 108,300,057(+) ATAAC(-/AA)TATTA 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)

Relevant External Links 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

Relevant External Links for AFG1L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AFG1L

No disorders were found for AFG1L Gene.

No data available for MalaCards , 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 B.S. … Venkatesh B. (Genomics 2002) 2 3 4 64
  2. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64
  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. (Biochem. J. 2016) 3 64
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  5. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PMID: 23535732) Eeles R.A. … Easton D.F. (Nat. Genet. 2013) 3 64

Products for AFG1L Gene

Sources for AFG1L Gene

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