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MT-ND1 - ENSG00000198888

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

Also known as: ND1, NAD1

Location: chrM:3,307-4,262

Gene Type: protein coding

More information
NCBI Gene
4535
HUGO
HGNC:7455
Ensembl
ENSG00000198888
OMIM
516000
UniProtKB
P03886

Genomic Context

The genome browser snapshot is fully interactive. Mouse over track elements for more information. Click and drag to move tracks. Click and drag on top positional guide to zoom to a sub-region.

To add tracks, use the provided link to switch to the full genome browser view.

Gene-based Trait Associations

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ADSP WES: Alzheimer's Disease ADSP

Results from gene-level rare and functional variant aggregation tests for association to AD supported by significane of p < 0.5 / #genes.

Individual score test statistics for rare, predicted functional, and loss of function variants colocated with the gene were aggregated to compute gene level p-values.

See NIAGADS Accession NG00065 for more information.

Genetic Variation and Variant-based Trait Associations (GWAS)

Variants contained within the MT-ND1 gene.

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The MT-ND1 gene contains 131 variants records (corresponding to 106 unique genomic positions).

The following variants, contained within ±100kb of MT-ND1, have been found to be associated with Alzheimer's disease in a GWAS study:

NIAGADS GWAS: Alzheimer's Disease

Variants contained within ±100kb of MT-ND1 that have genome-wide significance in a NIAGADS Alzheimer's Disease GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

NHGRI GWAS: Alzheimer's Disease

Variants contained within ±100kb of MT-ND1 that are associated with Alzheimer's disease in the NHGRI GWAS Catalog.

The following variants, contained within ±100kb of MT-ND1, have been associated with AD-relevant neuropathologies in a GWAS study:

NIAGADS GWAS: AD biomarkers and related neuropathologies

Variants contained within ±100kb of MT-ND1 that have genome-wide significance in a NIAGADS GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

NHGRI GWAS: Other Traits (incl. related neuropathologies and AD biomarkers)

Variants contained within ±100kb of MT-ND1 that are associated with a trait in the NHGRI GWAS Catalog.

Functional Genomics

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Explore all functional genomics annotations within the region of the MT-ND1 gene (chrM:3307-4262)

Transcription Factor Binding Site Overlap in Gene Promoter Region (ENCODE ChIP-SEQ)

ChIP-Seq sites for transcription factor binding (from selected brain-relevant ENCODE tracks) within the promoter region of this gene. See methods for more information.

Functional Annotation

Gene Ontology

Functional annotations were obtained from UniProt-GOA gene association files.

Click on a term accession number to view term details at the Gene Ontology Consortium.

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Ontology GO Accession Term Evidence Code
BP GO:0045333 cellular respiration IBA
BP GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS,NAS
BP GO:0032981 mitochondrial respiratory chain complex I assembly TAS
BP GO:0055114 oxidation-reduction process IEA
BP GO:0042493 response to drug IEA
BP GO:0033194 response to hydroperoxide IEA
BP GO:0014070 response to organic cyclic compound IEA
CC GO:0030425 dendrite IEA
CC GO:0016021 integral component of membrane IEA
CC GO:0016020 membrane IEA
CC GO:0005743 mitochondrial inner membrane TAS,IEA
CC GO:0031966 mitochondrial membrane IDA
CC GO:0005747 mitochondrial respiratory chain complex I NAS,IDA
CC GO:0005739 mitochondrion IEA
CC GO:0043025 neuronal cell body IEA
CC GO:0070469 respiratory chain IEA
MF GO:0003954 NADH dehydrogenase activity IBA
MF GO:0008137 NADH dehydrogenase (ubiquinone) activity IEA,NAS
MF GO:0016491 oxidoreductase activity IEA
MF GO:0005515 protein binding IPI

KEGG Pathways

Click on a pathway accession number to view term details at KEGG.

Click on the number in the Find Similar column to get a list of genes annotated by the associated pathway.

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Pathway KEGG Accession Graph
Metabolic pathways hsa01100
Oxidative phosphorylation hsa00190
Parkinson's disease hsa05012