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NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 [ Homo sapiens (human) ]

Gene ID: 4704, updated on 4-Oct-2020

Summary

Official Symbol
NDUFA9provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit A9provided by HGNC
Primary source
HGNC:HGNC:7693
See related
Ensembl:ENSG00000139180 MIM:603834
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
CC6; CI39k; COQ11; CI-39k; MC1DN26; NDUFS2L; SDR22E1
Summary
The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]
Expression
Ubiquitous expression in heart (RPKM 54.9), colon (RPKM 38.4) and 25 other tissues See more
Orthologs

Genomic context

See NDUFA9 in Genome Data Viewer
Location:
12p13.32
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (4649114..4694317)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (4758264..4796720)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene dual specificity tyrosine phosphorylation regulated kinase 4 Neighboring gene coiled-coil domain containing 181 pseudogene Neighboring gene RAB5A, member RAS oncogene family pseudogene Neighboring gene A-kinase anchoring protein 3 Neighboring gene GALNT8 antisense upstream 1 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 8

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

  • MGC111043

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
NADH dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NADH dehydrogenase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
NADH dehydrogenase activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
circadian rhythm IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial electron transport, NADH to ubiquinone NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial electron transport, NADH to ubiquinone TAS
Traceable Author Statement
more info
 
mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial respiratory chain complex I assembly TAS
Traceable Author Statement
more info
 
response to glucose IEA
Inferred from Electronic Annotation
more info
 
sodium ion transport NAS
Non-traceable Author Statement
more info
PubMed 
ubiquinone-6 biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus HDA PubMed 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial
Names
CI-39kD
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NADH dehydrogenase (ubiquinone) Fe-S protein 2-like (NADH-coenzyme Q reductase)
NADH-ubiquinone oxidoreductase 39 kDa subunit
complex I 39kDa subunit
short chain dehydrogenase/reductase family 22E, member 1
NP_004993.1

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.

Genomic

  1. NG_032124.1 RefSeqGene

    Range
    5001..43457
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005002.5NP_004993.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial precursor

    See identical proteins and their annotated locations for NP_004993.1

    Status: REVIEWED

    Source sequence(s)
    AC005832, BC009311, CB110957, L04490, R44283
    Consensus CDS
    CCDS8532.1
    UniProtKB/Swiss-Prot
    Q16795
    Related
    ENSP00000266544.5, ENST00000266544.10
    Conserved Domains (1) summary
    cd05271
    Location:54326
    NDUFA9_like_SDR_a; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, subunit 9, 39 kDa, (NDUFA9) -like, atypical (a) SDRs

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    4649114..4694317
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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