Format

Send to:

Choose Destination

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

Gene ID: 388962, updated on 8-May-2016
Official Symbol
BOLA3provided by HGNC
Official Full Name
bolA family member 3provided by HGNC
Primary source
HGNC:HGNC:24415
See related
Ensembl:ENSG00000163170 HPRD:14209; MIM:613183; Vega:OTTHUMG00000152834
Gene type
protein coding
RefSeq status
REVIEWED
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]
Orthologs
Location:
2p13.1
Exon count:
4
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (74135401..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 tet methylcytosine dioxygenase 3 Neighboring gene formin binding protein 1 pseudogene 1 Neighboring gene BOLA3 antisense RNA 1 (head to head) Neighboring gene MOB kinase activator 1A

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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
cellular_component ND
No biological Data available
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
bolA-like protein 3
Names
bolA homolog 3

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..17512
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001030582.1

    Status: REVIEWED

    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)
    AI652095, BC017744, BC028282, BU600037
    Consensus CDS
    CCDS33224.1
    UniProtKB/Swiss-Prot
    Q53S33
    UniProtKB/TrEMBL
    Q8N338
    Related
    ENSP00000295326, OTTHUMP00000202552, ENST00000295326, OTTHUMT00000328208
  2. NM_212552.2NP_997717.2  bolA-like protein 3 isoform 1

    See identical proteins and their annotated locations for NP_997717.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1), which is localized to the mitochondria (PMID:21944046).
    Source sequence(s)
    AI652095, BC017744, BU600037, DQ225187
    Consensus CDS
    CCDS33225.1
    UniProtKB/Swiss-Prot
    Q53S33
    Related
    ENSP00000331369, OTTHUMP00000202551, ENST00000327428, OTTHUMT00000328207
    Conserved Domains (1) summary
    pfam01722
    Location:38105
    BolA; BolA-like protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

    Range
    74135401..74147912 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    74291824..74304335 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)