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NDUFB4 NADH:ubiquinone oxidoreductase subunit B4 [ Homo sapiens (human) ]

Gene ID: 4710, updated on 1-Jun-2020

Summary

Official Symbol
NDUFB4provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit B4provided by HGNC
Primary source
HGNC:HGNC:7699
See related
Ensembl:ENSG00000065518 MIM:603840
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
B15; CI-B15
Summary
This gene encodes a non-catalytic subunit of the multisubunit NADH:ubiquinone oxidoreductase, the first enzyme complex in the mitochondrial electron transport chain (complex I). Mammalian complex I is composed of 45 different subunits and transfers electrons from NADH to ubiquinone. [provided by RefSeq, Dec 2009]
Expression
Ubiquitous expression in adrenal (RPKM 52.4), heart (RPKM 52.2) and 25 other tissues See more
Orthologs

Genomic context

See NDUFB4 in Genome Data Viewer
Location:
3q13.33
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (120596336..120602507)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (120315128..120321258)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L34 pseudogene 9 Neighboring gene CRISPRi-validated cis-regulatory element chr3.3352 Neighboring gene homogentisate 1,2-dioxygenase Neighboring gene RAB, member of RAS oncogene family like 3 Neighboring gene MT-CO1 pseudogene 29

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC5105

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 
mitochondrion HDA PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4
Names
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa
NADH-ubiquinone oxidoreductase B15 subunit
complex I B15 subunit
complex I-B15
NP_001161803.1
NP_004538.2

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.

mRNA and Protein(s)

  1. NM_001168331.2NP_001161803.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 isoform 2

    See identical proteins and their annotated locations for NP_001161803.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate segment, compared to variant 1, that causes a frameshift. The resulting protein (isoform 2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC034579, BC146885, BC146932, CB215975
    Consensus CDS
    CCDS54630.1
    UniProtKB/Swiss-Prot
    O95168
    Related
    ENSP00000419578.1, ENST00000485064.1
    Conserved Domains (1) summary
    pfam07225
    Location:5117
    NDUF_B4; NADH-ubiquinone oxidoreductase B15 subunit (NDUFB4)
  2. NM_004547.6NP_004538.2  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 isoform 1

    See identical proteins and their annotated locations for NP_004538.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
    Source sequence(s)
    AC126182, BC146885
    Consensus CDS
    CCDS2999.1
    UniProtKB/Swiss-Prot
    O95168
    Related
    ENSP00000184266.2, ENST00000184266.3
    Conserved Domains (1) summary
    pfam07225
    Location:5128
    NDUF_B4; NADH-ubiquinone oxidoreductase B15 subunit (NDUFB4)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    120596336..120602507
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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