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

Gene ID: 388962, updated on 5-Jan-2020

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
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

Genomic context

See BOLA3 in Genome Data Viewer
Location:
2p13.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (74135400..74147912, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74362528..74375039, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985898 Neighboring gene tet methylcytosine dioxygenase 3 Neighboring gene formin binding protein 1 pseudogene 1 Neighboring gene BOLA3 divergent transcript Neighboring gene MOB kinase activator 1A

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
bolA-like protein 3
Names
bolA homolog 3

NCBI Reference Sequences (RefSeq)

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_001035505.2NP_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/Swiss-Prot
    Q53S33
    UniProtKB/TrEMBL
    Q8N338
    Related
    ENSP00000295326.4, ENST00000295326.4
  2. NM_212552.3NP_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
    Q53S33
    Related
    ENSP00000331369.5, ENST00000327428.10
    Conserved Domains (1) summary
    cl00386
    Location:35107
    BolA; BolA-like protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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