BOLA3 - bolA family member 3 Gene

Homo sapiens

Also known as MMDS2

Gene ID: 388962 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27499296	GOA

Cellular Component GO Annotation	Evidence	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01574	BOLA3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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