NDUFS1 (Gene)

Organism:

Homo sapiens

Synonyms:CI-75Kd, CI-75k, ENTREZ:4719, HGNC:7707, MC1DN5, MIM:157655, NADH:ubiquinone oxidoreductase core subunit S1, NDUFS1, NM_001199981, NM_001199982, NM_001199983, NM_001199984, NM_005006, NP_001186910, NP_001186911, NP_001186912, NP_001186913, NP_004997, PRO1304

Id:ENSG00000283447

Description:NADH:ubiquinone oxidoreductase core subunit S1 [Source:HGNC Symbol;Acc:HGNC:7707]

The protein encoded by this gene belongs to the complex I 75 kDa subunit family. 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. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View NDUFS1's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with NDUFS1.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using NDUFS1.

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GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for NDUFS1.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with NDUFS1.

Results found

Linked to

	Label	Description
	Hypoglycemia Phenotype (Entity type)	A decreased concentration of glucose in the blood.
	Abnormality of mitochondrial metabolism Phenotype (Entity type)	A functional anomaly of mitochondria.

Hypoglycemia

Phenotype (Entity type)

A decreased concentration of glucose in the blood.

Abnormality of mitochondrial metabolism

Phenotype (Entity type)

A functional anomaly of mitochondria.

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Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

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