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NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 [ Homo sapiens (human) ]

Gene ID: 4709, updated on 5-Jan-2020

Summary

Official Symbol
NDUFB3provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit B3provided by HGNC
Primary source
HGNC:HGNC:7698
See related
Ensembl:ENSG00000119013 MIM:603839
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
B12; CI-B12; MC1DN25
Summary
This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]
Expression
Ubiquitous expression in kidney (RPKM 29.7), colon (RPKM 28.4) and 24 other tissues See more
Orthologs

Genomic context

See NDUFB3 in Genome Data Viewer
Location:
2q33.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (201071784..201085750)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (201936462..201950473)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 126 member B Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 35 Neighboring gene ribosomal protein L23a pseudogene 30 Neighboring gene RNA, U6 small nuclear 1206, pseudogene Neighboring gene uncharacterized LOC105373836 Neighboring gene ribosomal protein L17 pseudogene 10

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex I NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3
Names
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NADH-ubiquinone oxidoreductase B12 subunit
complex I-B12

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_032156.1 RefSeqGene

    Range
    5263..19012
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001257102.2NP_001244031.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3

    See identical proteins and their annotated locations for NP_001244031.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC018183, BM848639, BU188560
    Consensus CDS
    CCDS2336.1
    UniProtKB/Swiss-Prot
    O43676
    UniProtKB/TrEMBL
    A0A024R413
    Related
    ENSP00000410600.1, ENST00000433898.5
    Conserved Domains (1) summary
    pfam08122
    Location:4298
    NDUF_B12; NADH-ubiquinone oxidoreductase B12 subunit family
  2. NM_002491.3NP_002482.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3

    See identical proteins and their annotated locations for NP_002482.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an exon in the 5' UTR, compared to variant 2. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC018183
    Consensus CDS
    CCDS2336.1
    UniProtKB/Swiss-Prot
    O43676
    UniProtKB/TrEMBL
    A0A024R413
    Related
    ENSP00000237889.4, ENST00000237889.9
    Conserved Domains (1) summary
    pfam08122
    Location:4298
    NDUF_B12; NADH-ubiquinone oxidoreductase B12 subunit family

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
    201071784..201085750
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511230.3XP_011509532.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 isoform X1

    See identical proteins and their annotated locations for XP_011509532.1

    UniProtKB/Swiss-Prot
    O43676
    UniProtKB/TrEMBL
    A0A024R413
    Related
    ENSP00000407336.1, ENST00000454214.1
    Conserved Domains (1) summary
    pfam08122
    Location:4298
    NDUF_B12; NADH-ubiquinone oxidoreductase B12 subunit family
  2. XM_017004186.2XP_016859675.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 isoform X1

    UniProtKB/Swiss-Prot
    O43676
    UniProtKB/TrEMBL
    A0A024R413
    Conserved Domains (1) summary
    pfam08122
    Location:4298
    NDUF_B12; NADH-ubiquinone oxidoreductase B12 subunit family
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