Tbio AFG1L AFG1-like ATPase

Protein Summary

Description

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). 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]

Uniprot Accession IDs

• Q8WV93
• Q8N6A3

Gene Name

• AFG1L

Ensembl ID

• ENST00000368977
• ENSP00000357973
• ENSG00000135537

Symbol

• AFG1
• LACE1
• AFG1
• LACE1
• c222389

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	0
biological term	0
cell line	0
cell type or tissue	0
cellular component	0

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 304.68   (req: < 5)

Gene RIFs: 7   (req: <= 3)

Antibodies: 164   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 304.68   (req: >= 5)

Gene RIFs: 7   (req: > 3)

Antibodies: 164   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

Show Full Sequence

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Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Protein-Protein Interactions (24)

Explore Interacting Targets

1 – 10 of 24

• See Interactions on String-DB

SPATA5

Tbio

Family:  Enzyme

Novelty:  0.00416454

Score:  0.967

Data Source:  STRINGDB

ZAN

Tbio

Novelty:  0.03785375

Score:  0.71

Data Source:  STRINGDB

CMTR2

Tbio

Family:  Enzyme

Novelty:  0.11208282

Score:  0.702

Data Source:  STRINGDB

TARBP2

Tbio

Novelty:  0.01485994

Score:  0.642

Data Source:  STRINGDB

FAM169A

Tdark

Novelty:  0.53420521

Score:  0.604

Data Source:  STRINGDB

C6orf203

Tdark

Novelty:  1.12956468

Score:  0.563

Data Source:  STRINGDB

TP53RK

Tbio

Family:  Kinase

Novelty:  0.04302252

Score:  0.524

Data Source:  STRINGDB

NKIRAS2

Tbio

Family:  Enzyme

Novelty:  0.11182522

Score:  0.521

Data Source:  STRINGDB

PLPP7

Tdark

Family:  Enzyme

Novelty:  0.28747179

Score:  0.506

Data Source:  STRINGDB

SDHB

Tchem

Family:  Enzyme

Novelty:  0.0010199

Score:  0.493

Data Source:  STRINGDB

Gene Ontology Terms (8)

Functions (2)

Components (3)

Processes (3)

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1 – 2 of 2

GO Term	Evidence	Assigned by
ATPase activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
ATP binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

GWAS Traits (17)

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5

1 – 5 of 17

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
intelligence	EFO_0004337	7	8	5	7.2	92
mathematical ability	EFO_0004875	3	1	3		77.3
reticulocyte measurement	EFO_0010700	3	2	3		76.4
self reported educational attainment	EFO_0004784	3	2	2	7.8	74.7
reticulocyte count	EFO_0007986	2	2	2		72.7

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 17

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
intelligence	EFO_0004337	5	7.2	92
mathematical ability	EFO_0004875	3		77.3
reticulocyte measurement	EFO_0010700	3		76.4
self reported educational attainment	EFO_0004784	2	7.8	74.7
reticulocyte count	EFO_0007986	2		72.7

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
ATP-binding
Complete proteome
Hydrolase
Membrane
Mitochondrion
Nucleotide-binding
Reference proteome

GWAS Trait Find Similar Targets

No Header	No Header
blood protein measurement
body height
body mass index
cognitive function measurement
cortical surface area measurement
IGF-1 measurement
intelligence
intracranial volume measurement
intraocular pressure measurement
mathematical ability

Orthologs (15)

1 – 5 of 15

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	AFG1 like ATPase	VGNC:3265	462920
Macaque	AFG1 like ATPase		700861
Mouse	AFG1 like ATPase	MGI:2148801	215951
Dog	AFG1 like ATPase	VGNC:37689	481952
Horse	AFG1 like ATPase	VGNC:15147	100066538

Species	Name	OMA	EggNOG	Inparanoid
Chimp	AFG1 like ATPase
Macaque	AFG1 like ATPase
Mouse	AFG1 like ATPase
Dog	AFG1 like ATPase
Horse	AFG1 like ATPase

Publication Statistics

PubMed Score 304.68

PubMed score by year

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PubTator Score 70.92

PubTator score by year

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