Gene Gene information from NCBI Gene database.
Entrez ID 200205
Gene name Iron-sulfur cluster assembly factor IBA57
Gene symbol IBA57
Synonyms (NCBI Gene)
C1orf69MMDS3SPG74
Chromosome 1
Chromosome location 1q42.13
Summary 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.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615316 27302 ENSG00000181873
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
422
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary spastic paraplegia 74 Likely pathogenic; Pathogenic rs1558123212, rs1250537283, rs2034846986, rs778374267, rs775646159, rs757794637, rs1419333963, rs876657407, rs2034844971, rs1454220856, rs2124976652, rs1553263680, rs1202432368, rs765926471, rs1053773776
View all (1 more)
RCV001726528
RCV001379031
RCV001386814
RCV002569041
RCV001903204
RCV001913432
RCV002623548
RCV000185609
RCV002727281
RCV002823949
RCV002957904
RCV003790507
RCV003797702
RCV004796264
RCV001309858
RCV000818206
RCV001219724
IBA57-related disorder Likely pathogenic; Pathogenic rs757794637 RCV003416582
Multiple mitochondrial dysfunctions syndrome 3 Likely pathogenic; Pathogenic rs1558123212, rs1250537283, rs2034846986, rs778374267, rs1339829600, rs775646159, rs757794637, rs2527901443, rs1419333963, rs876657407, rs2034844971, rs1454220856, rs2124976652, rs2527899567, rs936626275
View all (16 more)
RCV002550197
RCV001379031
RCV001386814
RCV002569041
RCV004813186
RCV001903204
RCV001913432
RCV002470401
RCV002623548
RCV004767125
RCV002727281
RCV002823949
RCV002957904
RCV003338210
RCV003459884
RCV003459885
RCV003790507
RCV003797702
RCV000656679
RCV000656680
RCV000656681
RCV000656682
RCV000656683
RCV000656684
RCV000656685
RCV000656686
RCV000656687
RCV000656688
RCV000818206
RCV000050221
RCV001219724
RCV001249201
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs2527901759, rs2527901865, rs1035428169 -
C1orf69/IBA57-related disorder Conflicting classifications of pathogenicity rs2527921101 RCV002302474
Chronic lymphocytic leukemia/small lymphocytic lymphoma Likely benign rs375942905 RCV005922907
Microcephaly Uncertain significance rs2034998747 RCV001252738
Associations from Text MiningDisease 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