Gene
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
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.
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.
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.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0005515 Function Protein binding IPI 31831856
GO:0005739 Component Mitochondrion IDA
GO:0005759 Component Mitochondrial matrix IBA 21873635
GO:0006783 Process Heme biosynthetic process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615316 27302 ENSG00000181873
Protein
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
Developmental regression Developmental regression rs1224421127
Epileptic encephalopathy Encephalopathies rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
View all (860 more)
Leukodystrophy Leukodystrophy rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604
View all (6 more)
Unknown
Disease term Disease name Evidence References Source
Distal amyotrophy Distal amyotrophy ClinVar
Peripheral axonal neuropathy Peripheral axonal neuropathy ClinVar
Spastic Paraplegia hereditary spastic paraplegia 74 GenCC
Mitochondrial Diseases mitochondrial disease GenCC
Associations from Text Mining
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