IBA57 (iron-sulfur cluster assembly factor IBA57)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
200205
Gene name Gene Name - the full gene name approved by the HGNC.
Iron-sulfur cluster assembly factor IBA57
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IBA57
Synonyms (NCBI Gene) Gene synonyms aliases
C1orf69, MMDS3, SPG74
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.13
Summary Summary of gene provided in NCBI Entrez Gene.
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 wit
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
SNP ID Visualize variation Clinical significance Consequence
rs73095427 C>T Pathogenic, likely-pathogenic 5 prime UTR variant, coding sequence variant, missense variant
rs143575106 C>T Likely-pathogenic Coding sequence variant, missense variant
rs587777016 A>C Pathogenic Coding sequence variant, missense variant
rs769063859 C>G,T Uncertain-significance, pathogenic Missense variant, coding sequence variant
rs876657407 A>G Pathogenic Coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1249)
miRTarBase ID miRNA Experiments Reference
MIRT051887 hsa-let-7b-5p CLASH 23622248
MIRT048883 hsa-miR-93-5p CLASH 23622248
MIRT614053 hsa-miR-8485 HITS-CLIP 23313552
MIRT614052 hsa-miR-377-3p HITS-CLIP 23313552
MIRT614051 hsa-miR-337-3p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0005515 Function Protein binding IPI 31831856, 33961781, 39408793
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615316 27302 ENSG00000181873
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q5T440
Protein name Iron-sulfur cluster assembly factor IBA57, mitochondrial (Iron-sulfur cluster assembly factor homolog)
Protein function Mitochondrial protein involved in the maturation of mitochondrial [4Fe-4S]-proteins in the late stage of the iron-sulfur cluster assembly pathway (PubMed:22323289, PubMed:23462291). Operates in cooperation with ISCA2 in the maturation of [4Fe-4S
PDB 6GEU , 6QE3 , 6QE4
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in skin fibroblasts and skeletal muscle (at protein level). {ECO:0000269|PubMed:23462291}.
Sequence 
MATAALLRGATPGRGGPVWRWRLRAAPRCRLAHSSCSPGGDPTAGAAWACFRLDGRTLLR
VRGPDAAPFLLGLLTNELPLPSPAAAGAPPAARAGYAHFLNVQGRTLYDVILYGLQEHSE
VSGFLLECDSSVQGALQKHLALYRIRRKVTVEPHPELRVWAVLPSSPEACGAASLQERAG
AAAILIRDPRTARMGWRLLTQDEGPALVPGGRLGDLWDYHQHRYLQGVPEGVRDLPPGVA
LPLESNLAFMNGVSFTKGCYIGQELTARTHHMGVIRKRLFPVRFLDPLPTSGITPGATVL
TASGQTVGKFRAGQGNVGLALLWSEKIKGPLHIRASEGAQVALAASVPDWWPTVSK
Sequence length 356
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 SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary spastic paraplegia Hereditary spastic paraplegia 74 rs876657407 N/A
Multiple Mitochondrial Dysfunctions Syndrome multiple mitochondrial dysfunctions syndrome 3 rs876657407, rs73095427, rs1553264669, rs1553264725, rs769063859, rs765926471, rs1053773776, rs1261081427, rs781627051, rs587777016, rs1553264773, rs765132163 N/A
Show/Hide Unknown Diseases (2)
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
Microcephaly microcephaly N/A N/A ClinVar
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Renal Cell Associate 36385109
Infant Newborn Diseases Associate 33890810
Mitochondrial Diseases Associate 33890810, 36075292
Multiple Mitochondrial Dysfunctions Syndrome Associate 28356563, 36385109