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

Gene ID: 388962, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See BOLA3 in Genome Data Viewer
Location:
2p13.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (74135400..74147912, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (74143855..74156368, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74362527..74375039, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene DGUOK antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16037 Neighboring gene RNA, 5S ribosomal pseudogene 97 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74210413-74211336 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:74211958-74212156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:74230812-74231328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:74231329-74231844 Neighboring gene tet methylcytosine dioxygenase 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74235869-74236827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11651 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:74248449-74248948 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74252809-74253686 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:74253687-74254564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:74257891-74258392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:74258393-74258892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16043 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16044 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:74259869-74260014 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:74278831-74279332 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:74279333-74279832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:74312841-74313340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:74326577-74327076 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16045 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:74350700-74351402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:74357269-74357882 Neighboring gene formin binding protein 1 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:74374793-74375452 Neighboring gene BOLA3 divergent transcript Neighboring gene MOB kinase activator 1A Neighboring gene ReSE screen-validated silencer GRCh37_chr2:74403666-74403858 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:74405031-74405714

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Understanding the Molecular Basis of the Multiple Mitochondrial Dysfunctions Syndrome 2: The Disease-Causing His96Arg Mutation of BOLA3. Bargagna B, et al. Int J Mol Sci, 2023 Jul 21. PMID 37511493, Free PMC Article
  2. BOLA3 is a prognostic-related biomarker and correlated with immune infiltrates in lung adenocarcinoma. Wang XF, et al. Int Immunopharmacol, 2022 Jun. PMID 35286914
  3. Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. Haack TB, et al. J Inherit Metab Dis, 2013 Jan. PMID 22562699
  4. Reconstitution, characterization, and [2Fe-2S] cluster exchange reactivity of a holo human BOLA3 homodimer. Wachnowsky C, et al. J Biol Inorg Chem, 2019 Oct. PMID 31486956, Free PMC Article
  5. Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation. Saudino G, et al. Int J Mol Sci, 2021 May 3. PMID 34063696, Free PMC Article

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 HTP PubMed 
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

  1. NG_031910.1 RefSeqGene

    Range
    5001..17513
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    74135400..74147912 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    74143855..74156368 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q53S33.1 GenPept UniProtKB/Swiss-Prot:Q53S33

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