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NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 [ Homo sapiens (human) ]

Gene ID: 4698, updated on 1-Aug-2020

Summary

Official Symbol
NDUFA5provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit A5provided by HGNC
Primary source
HGNC:HGNC:7688
See related
Ensembl:ENSG00000128609 MIM:601677
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
B13; NUFM; UQOR13; CI-13kB; CI-13KD-B
Summary
This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]
Expression
Ubiquitous expression in thyroid (RPKM 21.8), heart (RPKM 20.7) and 25 other tissues See more
Orthologs

Genomic context

See NDUFA5 in Genome Data Viewer
Location:
7q31.32
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (123536997..123601651, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (123181083..123197958, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene LYPLA1 pseudogene 1 Neighboring gene RNA, U6 small nuclear 296, pseudogene Neighboring gene IQ motif and ubiquitin domain containing Neighboring gene ankyrin repeat and SOCS box containing 15 Neighboring gene ASB15 antisense RNA 1 Neighboring gene leiomodin 2

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

  • FLJ12147, DKFZp781K1356

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADH dehydrogenase (ubiquinone) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
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 alpha subcomplex subunit 5
Names
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
NADH-ubiquinone oxidoreductase 13 kDa-B subunit
complex I 13kDa subunit B
complex I subunit B13
type I dehydrogenase
ubiquinone reductase
NP_001269348.1
NP_001269349.1
NP_001269350.1
NP_001269351.1
NP_001278233.1
NP_004991.1
XP_024302539.1

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_001282419.2NP_001269348.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 2

    See identical proteins and their annotated locations for NP_001269348.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC073323, AV713284, BC000813, CR933664
    Consensus CDS
    CCDS75655.1
    UniProtKB/Swiss-Prot
    Q16718
    UniProtKB/TrEMBL
    A0A087X1G1
    Related
    ENSP00000484180.1, ENST00000611607.4
    Conserved Domains (1) summary
    pfam04716
    Location:963
    ETC_C1_NDUFA5; ETC complex I subunit conserved region
  2. NM_001282420.2NP_001269349.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 3

    See identical proteins and their annotated locations for NP_001269349.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is the same length as isoform 1 but has a distinct N-terminus.
    Source sequence(s)
    AC073323
    Consensus CDS
    CCDS64760.1
    UniProtKB/Swiss-Prot
    Q16718
    Related
    ENSP00000417142.1, ENST00000471770.5
    Conserved Domains (1) summary
    pfam04716
    Location:1378
    ETC_C1_NDUFA5; ETC complex I subunit conserved region
  3. NM_001282421.2NP_001269350.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 4

    See identical proteins and their annotated locations for NP_001269350.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) is shorter than isoform 1 and has a distinct N-terminus.
    Source sequence(s)
    AC073323, BC000813, CR933664, W44870
    UniProtKB/Swiss-Prot
    Q16718
    Related
    ENSP00000368072.4, ENST00000378795.8
    Conserved Domains (1) summary
    pfam04716
    Location:1669
    ETC_C1_NDUFA5; ETC complex I subunit conserved region
  4. NM_001282422.2NP_001269351.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 5

    See identical proteins and their annotated locations for NP_001269351.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
    Source sequence(s)
    AC073323, BC000813, BG611486, CR933664
    Consensus CDS
    CCDS75656.1
    UniProtKB/Swiss-Prot
    Q16718
    UniProtKB/TrEMBL
    A0A087WXR5
    Related
    ENSP00000481232.1, ENST00000618945.4
  5. NM_001291304.1NP_001278233.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) represents use of an alternate promoter, compared to variant 1. It contains an distinct 5' UTR and 5' coding region and initiates translation at an alternate start codon. The encoded isoform (6) is longer than isoform 1 and has a distinct N-terminus.
    Source sequence(s)
    AC006333, AC073323
    Conserved Domains (1) summary
    pfam04716
    Location:89138
    ETC_C1_NDUFA5; ETC complex I subunit conserved region
  6. NM_005000.5NP_004991.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 1

    See identical proteins and their annotated locations for NP_004991.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC073323, BC000813, CR933664
    Consensus CDS
    CCDS5788.1
    UniProtKB/Swiss-Prot
    Q16718
    UniProtKB/TrEMBL
    A0A024R745
    Related
    ENSP00000347988.2, ENST00000355749.7
    Conserved Domains (1) summary
    pfam04716
    Location:1378
    ETC_C1_NDUFA5; ETC complex I subunit conserved region

RNA

  1. NR_104168.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC073323, BC000813, BG400546, CR933664
  2. NR_104169.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC073323, BC000813, BF671339, CR933664
  3. NR_111925.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC073323
  4. NR_111926.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) represents use of an alternate promoter, compared to variant 1, and contains multiple differences in the 5' region. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC006333, AC073323

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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    123536997..123601651 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446771.1XP_024302539.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform X1

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