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NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 [ Homo sapiens (human) ]

Gene ID: 4711, updated on 1-Aug-2020

Summary

Official Symbol
NDUFB5provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit B5provided by HGNC
Primary source
HGNC:HGNC:7700
See related
Ensembl:ENSG00000136521 MIM:603841
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
SGDH; CISGDH
Summary
The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Expression
Ubiquitous expression in heart (RPKM 79.6), fat (RPKM 69.6) and 25 other tissues See more
Orthologs

Genomic context

See NDUFB5 in Genome Data Viewer
Location:
3q26.33
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (179604787..179627647)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (179322575..179342288)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986157 Neighboring gene actin like 6A Neighboring gene mitochondrial ribosomal protein L47 Neighboring gene H3 histone pseudogene 13 Neighboring gene ubiquitin specific peptidase 13

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

Markers

Homology

Clone Names

  • FLJ30597, MGC12314, MGC111204, DKFZp686N02262

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
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 IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial
Names
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa
NADH-ubiquinone oxidoreductase SGDH subunit
complex I SGDH subunit
complex I-SGDH
NP_001186886.1
NP_001186887.1
NP_002483.1

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_001199957.2NP_001186886.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001186886.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC090425, BC009796, BC093071, CD364869, DA112751
    Consensus CDS
    CCDS56297.1
    UniProtKB/Swiss-Prot
    O43674
    Related
    ENSP00000419656.1, ENST00000493866.5
    Conserved Domains (1) summary
    pfam09781
    Location:1136
    NDUF_B5; NADH:ubiquinone oxidoreductase, NDUFB5/SGDH subunit
  2. NM_001199958.1NP_001186887.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial isoform 3 precursor

    See identical proteins and their annotated locations for NP_001186887.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AW955118, BC009796, CD364869, DA112751
    Consensus CDS
    CCDS75054.1
    UniProtKB/Swiss-Prot
    O43674
    UniProtKB/TrEMBL
    A0A087WYD0
    Related
    ENSP00000481703.1, ENST00000611971.4
    Conserved Domains (1) summary
    pfam09781
    Location:1114
    NDUF_B5; NADH:ubiquinone oxidoreductase, NDUFB5/SGDH subunit
  3. NM_002492.4NP_002483.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_002483.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC090425, BC009796, CD364869, DA112751
    Consensus CDS
    CCDS3234.1
    UniProtKB/Swiss-Prot
    O43674
    Related
    ENSP00000259037.3, ENST00000259037.8
    Conserved Domains (1) summary
    pfam09781
    Location:1188
    NDUF_B5; NADH:ubiquinone oxidoreductase, NDUFB5/SGDH subunit

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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
    179604787..179627647
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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