BOLA1 bolA family member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BOLA1provided by HGNC
Official Full Name: bolA family member 1provided by HGNC
Primary source: HGNC:HGNC:24263
See related: Ensembl:ENSG00000178096 MIM:613181; AllianceGenome:HGNC:24263
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: CGI-143
Summary: Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney (RPKM 5.6), fat (RPKM 5.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (149899568..149900795)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (149012127..149024937)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (149871121..149872348)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Cluster exchange reactivity of [2Fe-2S]-bridged heterodimeric BOLA1-GLRX5.
Title: Cluster exchange reactivity of [2Fe-2S]-bridged heterodimeric BOLA1-GLRX5.
is an aerobic, mitochondrial protein that prevents mitochondrial morphology aberrations induced by GSH depletion and reduces the associated oxidative shift of the mitochondrial thiol redox potential
Title: BOLA1 is an aerobic protein that prevents mitochondrial morphology changes induced by glutathione depletion.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
This study reported that all three human BolA proteins (hBolA1, hBolA2, and hBolA3) are novel non-classical secreted proteins identified with bioinformatics and molecular biology experiments.
Title: hBolA, novel non-classical secreted proteins, belonging to different BolA family with functional divergence.
BOLA-like proteins are widely conserved from prokaryotes to eukaryotes and may be involved in cell proliferation or cell-cycle regulation.
Title: Solution structure of a BolA-like protein from Mus musculus.

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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

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

STS-Z40409 (e-PCR)
- UniSTS:68619

RH18368 (e-PCR)
- UniSTS:35853

A003N45 (e-PCR)
- UniSTS:20078

WI-16272 (e-PCR)
- UniSTS:74198

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
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

Component	Evidence Code	Pubs
part_of iron-sulfur cluster assembly complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in mitochondrion	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

General protein information

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Preferred Names: bolA-like protein 1

Names: bolA homolog 1; bolA-like 1

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.