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MT-ND6 mitochondrially encoded NADH dehydrogenase 6 [ Homo sapiens (human) ]

Gene ID: 4541, updated on 15-Oct-2022

Summary

Official Symbol
MT-ND6provided by HGNC
Official Full Name
mitochondrially encoded NADH dehydrogenase 6provided by HGNC
Primary source
HGNC:HGNC:7462
See related
MIM:516006; AllianceGenome:HGNC:7462
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MTND6; ND6
Summary
Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Predicted to be located in mitochondrial inner membrane. Implicated in Leber hereditary optic neuropathy; Leigh disease; and spinal muscular atrophy with lower extremity predominante 2B. [provided by Alliance of Genome Resources, Apr 2022]
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Genomic context

See MT-ND6 in Genome Data Viewer
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (14149..14673, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (14149..14673, complement)

Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene tRNA-Leu Neighboring gene NADH dehydrogenase subunit 5 Neighboring gene tRNA-Glu Neighboring gene cytochrome b

Genomic regions, transcripts, and products

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NADH dehydrogenase (ubiquinone) activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
part_of mitochondrial respiratory chain complex I IPI
Inferred from Physical Interaction
more info
PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
NADH dehydrogenase subunit 6

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

  1. NC_012920.1 Reference assembly

    Range
    14149..14673 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. YP_003024037.1 NADH dehydrogenase subunit 6 (mitochondrion) [Homo sapiens]

    See identical proteins and their annotated locations for YP_003024037.1

    Status: PROVISIONAL

    UniProtKB/Swiss-Prot
    P03923, Q8HG30
    UniProtKB/TrEMBL
    A0A1X7RCR6, D4IH28, U5Z977
    Related
    ENSP00000354665.2
    Conserved Domains (1) summary
    MTH00109
    Location:1174
    ND6; NADH dehydrogenase subunit 6; Provisional