• Gene id: 4706

Gene Summary

• Gene Symbol: NDUFAB1   Gene   UCSC   Ensembl
• Aliases: ACP, ACP1, FASN2A, SDAP
• Gene name: NADH:ubiquinone oxidoreductase subunit AB1
• Alternate names: acyl carrier protein, mitochondrial, CI-SDAP, NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa, NADH-ubiquinone oxidoreductase 9.6 kDa subunit, NADH:ubiquinone oxidoreductase SDAP subunit, complex I SDAP subunit, mitochondrial acyl carrier prot,
• Gene location: 16p12.2 (23596328: 23581011)     Exons: 4     NC_000016.10
• OMIM: 603836

Protein Summary

• Protein general information: O14561  
  • Name: Acyl carrier protein, mitochondrial (ACP) (CI SDAP) (NADH ubiquinone oxidoreductase 9.6 kDa subunit)
  • Length: 156  
  • Mass: 17417
• Sequence:

  MASRVLSAYVSRLPAAFAPLPRVRMLAVARPLSTALCSAGTQTRLGTLQPALVLAQVPGRVTQLCRQYSDMPPLT
  LEGIQDRVLYVLKLYDKIDPEKLSVNSHFMKDLGLDSLDQVEIIMAMEDEFGFEIPDIDAEKLMCPQEIVDYIAD
  KKDVYE

• Structural information:
  • Protein Domains: (77..15-)
    (/note="Carrier-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00258"-)
  • Interpro: IPR036736  IPR003231  IPR009081  IPR006162  
  • Prosite: PS50075 PS00012
  • PDB: 2DNW 5OOL 5OOM 5XTB 5XTC 5XTD 5XTH 5XTI 6ODD
  • PDBsum: 2DNW 5OOL 5OOM 5XTB 5XTC 5XTD 5XTH 5XTI 6ODD
  • STRING: ENSP00000458770
• Other Databases: GeneCards:  NDUFAB1  Malacards:  NDUFAB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0000036	acyl carrier activity	IBA	molecular function
GO:0000035	acyl binding	IBA	molecular function
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0005762	mitochondrial large ribosomal subunit	IDA	colocalizes with
GO:0005515	protein binding	IPI	molecular function
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0070469	respirasome	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	TAS	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0031966	mitochondrial membrane	NAS	cellular component
GO:0009249	protein lipoylation	IMP	biological process
GO:0005747	mitochondrial respiratory chain complex I	ISS	cellular component
GO:0000036	acyl carrier activity	NAS	molecular function
GO:0005509	calcium ion binding	NAS	molecular function
GO:0005504	fatty acid binding	ISS	molecular function
GO:0031966	mitochondrial membrane	ISS	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0005759	mitochondrial matrix	ISS	cellular component
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component
GO:0006633	fatty acid biosynthetic process	NAS	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa04723	Retrograde endocannabinoid signaling
hsa00190	Oxidative phosphorylation
hsa04932	Non-alcoholic fatty liver disease

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881