BOLA3 bolA family member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BOLA3provided by HGNC
Official Full Name: bolA family member 3provided by HGNC
Primary source: HGNC:HGNC:24415
See related: Ensembl:ENSG00000163170 MIM:613183; AllianceGenome:HGNC:24415
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MMDS2
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]
Expression: Ubiquitous expression in colon (RPKM 17.0), heart (RPKM 15.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p13.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (74135400..74147912, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (74143855..74156368, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (74362527..74375039, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome.
Title: BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome.
Understanding the Molecular Basis of the Multiple Mitochondrial Dysfunctions Syndrome 2: The Disease-Causing His96Arg Mutation of BOLA3.
Title: Understanding the Molecular Basis of the Multiple Mitochondrial Dysfunctions Syndrome 2: The Disease-Causing His96Arg Mutation of BOLA3.
BOLA3 is a prognostic-related biomarker and correlated with immune infiltrates in lung adenocarcinoma.
Title: BOLA3 is a prognostic-related biomarker and correlated with immune infiltrates in lung adenocarcinoma.
Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation.
Title: Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation.
A pathway for assembling [4Fe-4S](2+) clusters in mitochondrial iron-sulfur protein biogenesis.
Title: A pathway for assembling [4Fe-4S](2+) clusters in mitochondrial iron-sulfur protein biogenesis.
BOLA3 can form a functional homodimer capable of engaging in Fe-S cluster transfer
Title: Reconstitution, characterization, and [2Fe-2S] cluster exchange reactivity of a holo human BOLA3 homodimer.
this study shows that BOLA3 deficiency controls endothelial metabolism and glycine homeostasis in pulmonary hypertension
Title: BOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension.
Clinical features of BOLA3-associated variant nonketotic hyperglycemia include severe neurodegeneration after a period of normal development.
Title: Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
BOLA3 plays a crucial role in the biogenesis of iron-sulfur clusters.
Title: Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.
Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes [case report]
Title: Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Multiple mitochondrial dysfunctions syndrome 2 MedGen: C3280378 OMIM: 614299 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-21646 (e-PCR)
- UniSTS:60194

SGC32756 (e-PCR)
- UniSTS:27899

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in cell redox homeostasis	NAS Non-traceable Author Statement more info	PubMed
involved_in intracellular iron ion homeostasis	NAS Non-traceable Author Statement more info	PubMed
involved_in iron-sulfur cluster assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in protein maturation by [4Fe-4S] cluster transfer	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
part_of iron-sulfur cluster assembly complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	NAS Non-traceable Author Statement more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: bolA-like protein 3

Names: bolA homolog 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_031910.1 RefSeqGene

Range

5001..17513

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001035505.2 → NP_001030582.1 bolA-like protein 3 isoform 2

See identical proteins and their annotated locations for NP_001030582.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an internal coding exon compared to variant 1. This results in a frame-shift and a shorter isoform (2) with a distinct C-terminus compared to isoform 1. This isoform is localized to the cytoplasm (PMID:21944046).

Source sequence(s)

AC073263, BC028282, BU600037

Consensus CDS

CCDS33224.1

UniProtKB/TrEMBL

Q8N338

Related

ENSP00000295326.4, ENST00000295326.4
NM_212552.3 → NP_997717.2 bolA-like protein 3 isoform 1

See identical proteins and their annotated locations for NP_997717.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1), which is localized to the mitochondria (PMID:21944046).

Source sequence(s)

AC073263, BU600037, DQ225187

Consensus CDS

CCDS33225.1

UniProtKB/Swiss-Prot

G3XAB0, Q53S33

Related

ENSP00000331369.5, ENST00000327428.10

Conserved Domains (1) summary

cl00386
Location:35 → 107

BolA; BolA-like protein