1. Gene
  2. NDUFAB1 - NADH:ubiquinone oxidoreductase subunit AB1 Gene

NDUFAB1 - NADH:ubiquinone oxidoreductase subunit AB1 Gene

Homo sapiens

Also known as ACP; ACP1; SDAP; FASN2A

Gene ID: 4706 | Gene type: protein coding

About NDUFAB1

Cytogenetic location: 16p12.2 Genomic coordinates (GRCh38): 16:23,581,014-23,596,316 (from NCBI)

This gene has 5 transcripts (splice variants), 236 orthologues and 1 paralogue. Ubiquitous expression in heart (RPKM 68.8), colon (RPKM 46.1) and 25 other tissues.

Summary

Predicted to enable acyl binding activity; acyl carrier activity; and fatty acid binding activity. Involved in mitochondrial respiratory chain complex I assembly and protein lipoylation. Located in mitochondrion and nucleoplasm. Part of mitochondrial respiratory chain complex I. Colocalizes with mitochondrial large ribosomal subunit. [provided by Alliance of Genome Resources, Apr 2022]

NDUFAB1 Products(1)

mRNA Protein Name
NM_005003.3 NP_004994.1 acyl carrier protein, mitochondrial precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables mitochondrial large ribosomal subunit binding IDA
IDA: Inferred from direct assay
28892042 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
23157686 GOA
Biological Process GO Annotation Evidence Reference Source
involved in [2Fe-2S] cluster assembly IDA
IDA: Inferred from direct assay
31664822 GOA
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: Inferred from mutant phenotype
27626371 GOA
involved in protein lipoylation IMP
IMP: Inferred from mutant phenotype
21846720 GOA
Cellular Component GO Annotation Evidence Reference Source
part of mitochondrial [2Fe-2S] assembly complex IDA
IDA: Inferred from direct assay
31101807 GOA
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
28844695 GOA
part of respiratory chain complex I IDA
IDA: Inferred from direct assay
12611891 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NDUFAB1 Protein Structure

PP-binding

PP-binding: Phosphopantetheine attachment site (92 - 148)

  • 0
  • 100
  • 156 a.a.
Protein Preferred Names Protein Names

acyl carrier protein, mitochondrial

CI-SDAP

Related Diseases

Diseases Alias
Acute Gonococcal Prostatitis

Gonococcal Prostatitis

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus NDUFAB1 VGNC VGNC:31952
Rattus norvegicus NDUFAB1 RGD RGD:1305619
Mus musculus NDUFAB1 MGD MGI:1917566