NDUFAB1 (NADH:ubiquinone oxidoreductase subunit AB1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 4706
Gene name NADH:ubiquinone oxidoreductase subunit AB1
Gene symbol NDUFAB1
Synonyms (NCBI Gene)
ACPACP1FASN2ASDAP
Chromosome 16
Chromosome location 16p12.2
miRNA miRNA information provided by mirtarbase database.
21
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (21)
miRTarBase ID miRNA Experiments Reference
MIRT040100 hsa-miR-615-3p CLASH 23622248
MIRT1178889 hsa-miR-300 CLIP-seq
MIRT1178890 hsa-miR-34b CLIP-seq
MIRT1178891 hsa-miR-3664-5p CLIP-seq
MIRT1178892 hsa-miR-381 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (38)
GO ID Ontology Definition Evidence Reference
GO:0000035 Function Acyl binding IBA
GO:0000036 Function Acyl carrier activity IBA
GO:0000036 Function Acyl carrier activity NAS 10234612
GO:0005198 Function Structural molecule activity IDA 28634302
GO:0005504 Function Fatty acid binding ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603836 7694 ENSG00000004779
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14561
Protein name Acyl carrier protein, mitochondrial (ACP) (CI-SDAP) (NADH-ubiquinone oxidoreductase 9.6 kDa subunit)
Protein function Carrier of the growing fatty acid chain in fatty acid biosynthesis (By similarity) (PubMed:27626371). Accessory and non-catalytic subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the tran
PDB 2DNW , 5OOL , 5OOM , 5XTB , 5XTC , 5XTD , 5XTH , 5XTI , 6ODD , 7A5H , 7A5J , 7O9K , 7O9M , 7ODR , 7ODS , 7ODT , 7OF0 , 7OF2 , 7OF3 , 7OF5 , 7OF7 , 7OI6 , 7OI7 , 7OI8 , 7OI9 , 7OIC , 7OID , 7OIE , 7PD3 , 7PO4 , 7QH6 , 7QH7 , 8K2B , 8PK0 , 8QSJ , 8QU5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00550 PP-binding 81 → 148 Phosphopantetheine attachment site Domain
Sequence 
MASRVLSAYVSRLPAAFAPLPRVRMLAVARPLSTALCSAGTQTRLGTLQPALVLAQVPGR
VTQLCRQYSDMPPLTLEGIQDRVLYVLKLYDKIDPEKLSVNSHFMKDLGLDSLDQVEIIM
AMEDEFGFEIPDIDAEKLMCPQEIVDYIADKKDVYE
Sequence length 156
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Thermogenesis
Retrograde endocannabinoid signaling
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy 		  Glyoxylate metabolism and glycine degradation
Respiratory electron transport
Complex I biogenesis
Mitochondrial Fatty Acid Beta-Oxidation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (120)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adamantinous Craniopharyngioma Adamantinous Craniopharyngioma BEFREE 16842188, 28754992, 30031876, 31548581
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 7575486
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Craniopharyngioma Craniopharyngioma BEFREE 29795641
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 35432724, 35788655, 36551187 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aniridia Aniridia BEFREE 1505982, 2575483, 6929510
★★★★★
★☆☆☆☆
Found in Text Mining only
Aniridia type 1 Aniridia BEFREE 1505982
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety disorder Pubtator 25390645 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 19246900
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 16224193, 18414509, 31361966
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 19246900, 30595115
★★★★★
★☆☆☆☆
Found in Text Mining only