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Tbio
IBA57
Putative transferase CAF17, mitochondrial

Protein Summary
Description
Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000366711
  • ENSP00000355672
  • ENSG00000181873

Symbol
  • C1orf69
  • MMDS3
  • SPG74
  • C1orf69
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor binding site profile
0.96
histone modification site profile
0.8
transcription factor
0.72
cell line
0.56
cell type or tissue
0.52


Protein Classes
No PANTHER Classes or DTO Classes found
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: 19.77   (req: < 5)
Gene RIFs: 7   (req: <= 3)
Antibodies: 63   (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: 19.77   (req: >= 5)
Gene RIFs: 7   (req: > 3)
Antibodies: 63   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4
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
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (95)
ISCA2
Tbio
Novelty:  0.02194373
p_int:  0.999999745
p_ni:  2.55e-7
Score:  0.959
Data Source:  BioPlex,STRINGDB
EIF4A1
Tchem
Novelty:  0.00269994
p_int:  0.999265331
p_ni:  0.000734669
Score:  0.258
Data Source:  BioPlex,STRINGDB
TMEM184A
Tbio
Novelty:  0.16408207
p_int:  0.99925925
p_ni:  0.00074075
Data Source:  BioPlex
ARHGAP22
Tbio
Family:  Enzyme
Novelty:  0.13037853
p_int:  0.995785766
p_ni:  0.004214234
Data Source:  BioPlex
GTF2E2
Tbio
Novelty:  0.18033153
p_int:  0.954697964
p_ni:  0.045301117
p_wrong:  9.19e-7
Score:  0.298
Data Source:  BioPlex,STRINGDB
HINT2
Tbio
Novelty:  0.09560851
p_int:  0.912425427
p_ni:  0.08757453
p_wrong:  4.2e-8
Data Source:  BioPlex
IMPDH1
Tclin
Family:  Enzyme
Novelty:  0.00758575
p_int:  0.90155402
p_ni:  0.098413855
p_wrong:  0.000032125
Data Source:  BioPlex
MRRF
Tbio
Novelty:  0.00269663
p_int:  0.90101434
p_ni:  0.098985659
p_wrong:  1e-9
Score:  0.239
Data Source:  BioPlex,STRINGDB
CARTPT
Tbio
Novelty:  0.00224864
p_int:  0.873508968
p_ni:  0.12649101
p_wrong:  2.2e-8
Data Source:  BioPlex
HSPD1
Tbio
Novelty:  0.00018924
p_int:  0.86211128
p_ni:  0.137888718
p_wrong:  2e-9
Score:  0.27
Data Source:  BioPlex,STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (0)
No pathways found
Viral Interactions (0)
No viral interactions found
Gene Ontology Terms (6)
Find Similar Targets
Items per page:
10
1 – 2 of 2
GO Term
Evidence
Assigned by
Inferred from High Throughput Direct Assay (HDA)
UniProtKB
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Disease Associations ()
No disease associations found
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
adolescent idiopathic scoliosis
2
1
0
1.2
46.1
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
adolescent idiopathic scoliosis
0
1.2
46.1
IDG Resources
No IDG generated resources found
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
IBA57, iron-sulfur cluster assembly
VGNC:8053
457796
Mouse
MGI:3041174
216792
Rat
RGD:1306000
363611
Dog
IBA57, iron-sulfur cluster assembly
VGNC:41851
482207
Cow
IBA57, iron-sulfur cluster assembly
VGNC:30020
506009
Species
Name
OMA
EggNOG
Inparanoid
Chimp
IBA57, iron-sulfur cluster assembly
Mouse
Rat
Dog
IBA57, iron-sulfur cluster assembly
Cow
IBA57, iron-sulfur cluster assembly
Publication Statistics
PubMed Score 19.77
PubMed score by year
PubTator Score 10.94
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title