IBA57 - iron-sulfur cluster assembly factor IBA57 Gene

Also Known as MMDS3; SPG74; C1orf69

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 200205

About IBA57

Cytogenetic location: 1q42.13 Genomic coordinates (GRCh38): 1:228,165,804-228,182,257 (from NCBI)

This gene has 3 transcripts (splice variants), 190 orthologues and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 1.9), bone marrow (RPKM 1.8) and 25 other tissues.

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 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]

IBA57 Products (2)

mRNA	Protein	Name
NM_001010867.4	NP_001010867.1	putative transferase CAF17, mitochondrial isoform 1 precursor
NM_001310327.2	NP_001297256.1	putative transferase CAF17, mitochondrial isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	31831856	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IBA57 Protein Structure

GCV_T

GCV_T_C

0
100
200
300
356 a.a.

Protein Preferred Names	Protein Names
putative transferase CAF17, mitochondrial	IBA57 homolog, iron-sulfur cluster assembly

IBA57 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	IBA57	Q5T440	ISCA2	Homo sapiens	Q86U28	GMS	31831856
Intra	IBA57	Q5T440	ISCA2	Homo sapiens	Q86U28	UV-VIS	31831856

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Multiple Mitochondrial Dysfunctions Syndrome 3	MMDS3 Iba57 Deficiency Multiple Mitochondrial Dysfunctions Syndrome Type 3 Mitochondrial Dysfunctions, Multiple, Syndrome, Type 3
Spastic Paraplegia 74, Autosomal Recessive	SPG74 Hereditary Spastic Paraplegia 74 Autosomal Recessive Spastic Paraplegia 74 Autosomal Recessive Spastic Paraplegia Type 74 Paraplegia, Spastic, Autosomal Recessive, Type 74
Multiple Mitochondrial Dysfunctions Syndrome	Fatal Multiple Mitochondrial Dysfunctions Syndrome Fatal Multiple Mitochondrial Dysfunction Syndrome Mmds Multiple Mitochondrial Dysfunction Syndrome Mitochondrial Dysfunctions, Multiple, Syndrome Multiple Mitochondrial Dysfunctions Syndrome 1
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Multiple Mitochondrial Dysfunctions Syndrome 2 MMDS2 Bola3 Deficiency Multiple Mitochondrial Dysfunctions Syndrome Type 2 Mitochondrial Dysfunctions Syndrome, Multiple, Type 2
Multiple Mitochondrial Dysfunctions Syndrome 4	MMDS4 Multiple Mitochondrial Dysfunctions Syndrome Type 4 Mitochondrial Dysfunctions, Multiple, Syndrome, Type 4
Multiple Mitochondrial Dysfunctions Syndrome 1	MMDS1 Mmds Nfu1 Deficiency Multiple Mitochondrial Dysfunctions Syndrome Type 1 Mitochondrial Dysfunctions Syndrome, Multiple, Type 1
Spastic Paraplegia 77, Autosomal Recessive	SPG77 Hereditary Spastic Paraplegia 77 Autosomal Recessive Spastic Paraplegia 77 Autosomal Recessive Spastic Paraplegia Type 77
Spastic Paraplegia 55, Autosomal Recessive	SPG55 Hereditary Spastic Paraplegia 55 Autosomal Recessive Spastic Paraplegia Type 55 Autosomal Recessive Spastic Paraplegia 55 Paraplegia, Spastic, Autosomal Recessive, Type 55
Spastic Paraplegia 63, Autosomal Recessive	SPG63 Hereditary Spastic Paraplegia 63 Spastic Paraplegia 63 Autosomal Recessive Spastic Paraplegia 63 Autosomal Recessive Spastic Paraplegia Type 63 Paraplegia, Spastic, Type 63, Autosomal Recessive
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Combined Oxidative Phosphorylation Deficiency 19	COXPD19 Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Combined Oxidative Phosphorylation Deficiency, Type 19
Anemia, Sideroblastic, 1	Xlsa X-Linked Sideroblastic Anemia Hypochromic Anemia Anh1 Hereditary Iron-Loading Anemia Anemia, Sideroblastic, X-Linked Anemia, Hereditary Sideroblastic Erythroid 5-Aminolevulinate Synthase Deficiency Hereditary Sideroblastic Anemia SIDBA1 Anemia, Hypochromic Sideroblastic Anemia 1 Anemia Hypochromic X Chromosome-Linked Sideroblastic Anemia Sideroblastic Anaemia 1 X-Linked Sideroblastic Anaemia Anemia Hereditary Sideroblastic Anemia Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anemia Sideroblastic Anemia X-Linked Anemia, Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anaemia X-Linked Pyridoxine-Responsive Sideroblastic Anemia Anemia Congenital Sideroblastic Anemia, Sideroblastic, Type 1 Sex-Linked Hypochromic Sideroblastic Anaemia Autosomal Recessive Sideroblastic Anaemia Familial Sex Linked Hypochromic Anaemia
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Glycine Encephalopathy	Non-Ketotic Hyperglycinemia Nonketotic Hyperglycinemia NKH GCE Hyperglycinemia, Nonketotic Hyperglycinemia Nonketotic Infantile Glycine Encephalopathy Encephalopathy, Glycine Glycine Synthase Deficiency Nka Neonatal Glycine Encephalopathy Classic Glycine Encephalopathy Neonatal Nkh Neonatal Non-Ketotic Hyperglycinemia Infantile Nkh Infantile Non-Ketotic Hyperglycinemia Non-Ketotic Hyperglycinaemia Glycine Cleavage Deficiency Nonketotic Hyperglycinaemia
Respiratory Failure	Acute Respiratory Failure Chronic Respiratory Failure Respiratory Insufficiency Acute-On-Chronic Respiratory Failure Respiratory Disease Acute And Chronic Respiratory Failure Respiratory Insufficiency/Failure Chronic Respiratory Disease Pulmonary Valve Insufficiency Chronic Disease Of Respiratory System Respiration Disorders Respiratory Tract Diseases Lung Failure Nos Pulmonary Failure Arf - [Acute Respiratory Failure] Acute Respiratory Insufficiency Acute Pulmonary Insufficiency Acute Respiration Failure Chronic Respiration Failure
Pyruvate Dehydrogenase E1-Alpha Deficiency	Pyruvate Dehydrogenase Deficiency Pyruvate Dehydrogenase Complex Deficiency Pyruvate Decarboxylase Deficiency Pdh Deficiency PDHAD Pyruvate Dehydrogenase Complex Deficiency Disease Ataxia With Lactic Acidosis I Ataxia With Lactic Acidosis 1 Pdh Pdhc Ataxia With Lactic Acidosis Ataxia, Intermittent, With Abnormal Pyruvate Metabolism Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency Deficiency Of Pyruvic Dehydrogenase Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency Pdc Deficiency Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency Pdhc Deficiency Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency Ataxia Intermittent With Abnormal Pyruvate Metabolism Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency Pyruvate Dehydrogenase E1 Alpha Deficiency Pdc - [Pyruvate Dehydrogenase Complex] Deficiency Ataxia With Lactic Acidosis 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06508	IBA57 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	IBA57	VGNC	VGNC:62864
Mus musculus	IBA57	MGD	MGI:3041174
Bos taurus	IBA57	VGNC	VGNC:30020
Rattus norvegicus	IBA57	RGD	RGD:1306000
Canis familiaris	IBA57	VGNC	VGNC:41851
Others	IBA57	NCBI