AFG1L (AFG1 like ATPase)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
246269
Gene name Gene Name - the full gene name approved by the HGNC.
AFG1 like ATPase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AFG1L
Synonyms (NCBI Gene) Gene synonyms aliases
AFG1, LACE1, c222389
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q21
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
MIRT560489 hsa-miR-3141 PAR-CLIP 20371350
MIRT560488 hsa-miR-4715-5p PAR-CLIP 20371350
MIRT560487 hsa-miR-571 PAR-CLIP 20371350
MIRT560486 hsa-miR-6809-5p PAR-CLIP 20371350
MIRT560485 hsa-miR-4467 PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(18)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 25416956, 26759378, 27323408, 32296183
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617469 16411 ENSG00000135537
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8WV93
Protein name AFG1-like ATPase (Lactation elevated protein 1) (EC 3.6.-.-) (Protein AFG1 homolog)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03969 AFG1_ATPase 74 → 433 AFG1-like ATPase Family
Sequence
Sequence length 481
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dyslexia Dyslexia N/A N/A GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Asymptomatic Infections Associate 33736632
Bipolar Disorder Associate 20872768
Hepatitis B Associate 33736632
Hepatitis B Chronic Associate 33736632