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BOLA3 - bolA family member 3 Gene

Also Known as MMDS2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 388962

About BOLA3

Cytogenetic location: 2p13.1 Genomic coordinates (GRCh38): 2:74,135,400-74,147,912 (from NCBI)

This gene has 5 transcripts (splice variants), 198 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 17.0), heart (RPKM 15.5) and 25 other tissues.

Summary

This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011]

BOLA3 Products (2)

mRNA	Protein	Name
NM_001035505.2	NP_001030582.1	bolA-like protein 3 isoform 2
NM_212552.3	NP_997717.2	bolA-like protein 3 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27499296	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of iron-sulfur cluster assembly complex	IPI IPI: Inferred from physical interaction	27532772	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	22746225	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

BOLA3 Protein Structure

BolA

0
100
107 a.a.

Protein Preferred Names	Protein Names
bolA-like protein 3	bolA homolog 3

BOLA3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	BOLA3	Q53S33	MAGEA6	Homo sapiens	P43360	Y2H Prey Pooling	32296183
Intra	BOLA3	Q53S33	MAGEA6	Homo sapiens	P43360	Y2H Array	32296183
Intra	BOLA3	Q53S33	KRT34	Homo sapiens	O76011	Y2H Prey Pooling	32296183
Intra	BOLA3	Q53S33	KRT34	Homo sapiens	O76011	Y2H Array	32296183
Intra	BOLA3	Q53S33	GLRX5	Homo sapiens	Q86SX6	Y2H Prey Pooling	32296183
Intra	BOLA3	Q53S33	GLRX5	Homo sapiens	Q86SX6	CD	34063696
Intra	BOLA3	Q53S33	GLRX5	Homo sapiens	Q86SX6	Anti Tag CoIP	27499296
Intra	BOLA3	Q53S33	GLRX5	Homo sapiens	Q86SX6	FPS	34063696
Intra	BOLA3	Q53S33	GLRX5	Homo sapiens	Q86SX6	NMR	34063696
Intra	BOLA3	Q53S33	GLRX5	Homo sapiens	Q86SX6	UV-VIS	34063696
Intra	BOLA3	Q53S33	GLRX5	Homo sapiens	Q86SX6	Validated Y2H	32296183
Intra	BOLA3	Q53S33	GLRX5	Homo sapiens	Q86SX6	Y2H Array	32296183
Intra	BOLA3	Q53S33	FAAP100	Homo sapiens	Q0VG06	Anti Tag CoIP	33961781
Intra	BOLA3	Q53S33	Q86SX6-PRO_0000141650	Homo sapiens	Q86SX6-PRO_0000141650	NMR	27532772
Intra	BOLA3	Q53S33	Q86SX6-PRO_0000141650	Homo sapiens	Q86SX6-PRO_0000141650	CD	27532772
Intra	BOLA3	Q53S33	GLRX3	Homo sapiens	O76003	Y2H Prey Pooling	32296183
Intra	BOLA3	Q53S33	GLRX3	Homo sapiens	O76003	Y2H Array	32296183
Intra	BOLA3	Q53S33	INCA1	Homo sapiens	Q0VD86	Y2H Array	32296183
Intra	BOLA3	Q53S33	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	32296183
Intra	BOLA3	Q53S33	RAB17	Homo sapiens	Q9H0T7	Validated Y2H	32296183
Intra	BOLA3	Q53S33	RAB17	Homo sapiens	Q9H0T7	Y2H Array	32296183
Intra	BOLA3	Q53S33	RAB17	Homo sapiens	Q9H0T7	Y2H Prey Pooling	32296183
Intra	BOLA3	Q53S33	NFU1	Homo sapiens	Q9UMS0	MST	27532772
Intra	BOLA3	Q53S33	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183
Intra	BOLA3	Q53S33	PICK1	Homo sapiens	Q9NRD5	Y2H Array	32296183
Intra	BOLA3	Q53S33	PICK1	Homo sapiens	Q9NRD5	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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	Fatal Multiple Mitochondrial Dysfunctions Syndrome Fatal Multiple Mitochondrial Dysfunction Syndrome Mmds Multiple Mitochondrial Dysfunction Syndrome Mitochondrial Dysfunctions, Multiple, Syndrome Multiple Mitochondrial Dysfunctions Syndrome 1
Multiple Mitochondrial Dysfunctions Syndrome 1	MMDS1 Mmds Nfu1 Deficiency Multiple Mitochondrial Dysfunctions Syndrome Type 1 Mitochondrial Dysfunctions Syndrome, Multiple, Type 1
Pulmonary Hypertension	Primary Pulmonary Hypertension Hypertension Pulmonary Hypertension, Pulmonary Hypertension, Pulmonary, Primary Idiopathic Pulmonary Hypertension Idiopathic Pulmonary Arterial Hypertension Pulmonary Htn - [Hypertension]
Multiple Mitochondrial Dysfunctions Syndrome 4	MMDS4 Multiple Mitochondrial Dysfunctions Syndrome Type 4 Mitochondrial Dysfunctions, Multiple, Syndrome, Type 4
Multiple Mitochondrial Dysfunctions Syndrome 3	MMDS3 Iba57 Deficiency Multiple Mitochondrial Dysfunctions Syndrome Type 3 Mitochondrial Dysfunctions, Multiple, Syndrome, Type 3
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
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
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
Combined Oxidative Phosphorylation Deficiency 19	COXPD19 Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Combined Oxidative Phosphorylation Deficiency, Type 19
Mitochondrial Metabolism Disease	Abnormality Of Mitochondrial Metabolism Mitochondrial Diseases

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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS01574	BOLA3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	BOLA3	VGNC	VGNC:80035
Rattus norvegicus	BOLA3	RGD	RGD:1305975
Bos taurus	BOLA3	VGNC	VGNC:50093
Mus musculus	BOLA3	MGD	MGI:1925903
Macaca mulatta	BOLA3	VGNC	VGNC:106133
Canis familiaris	BOLA3	VGNC	VGNC:54924
Others	BOLA3	NCBI