• Gene id: 80224

Gene Summary

• Gene Symbol: NUBPL   Gene   UCSC   Ensembl
• Aliases: C14orf127, IND1, MC1DN21, huInd1
• Gene name: nucleotide binding protein like
• Alternate names: iron-sulfur protein NUBPL, IND1 homolog, iron-sulfur protein required for NADH dehydrogenase,
• Gene location: 14q12 (31561398: 31861292)     Exons: 18     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane.
• OMIM: 613621

Protein Summary

• Protein general information: Q8TB37  
  • Name: Iron sulfur protein NUBPL (IND1 homolog) (Nucleotide binding protein like) (huInd1)
  • Length: 319  
  • Mass: 34083
  • Tissue specificity: Highest expression in liver and kidney. expressed at significant levels in small intestine and brain (at protein level). {ECO
• Sequence:

  MGIWQRLLLFGGVSLRAGGGATAPLGGSRAMVCGRQLSGAGSETLKQRRTQIMSRGLPKQKPIEGVKQVIVVASG
  KGGVGKSTTAVNLALALAANDSSKAIGLLDVDVYGPSVPKMMNLKGNPELSQSNLMRPLLNYGIACMSMGFLVEE
  SEPVVWRGLMVMSAIEKLLRQVDWGQLDYLVVDMPPGTGDVQLSVSQNIPITGAVIVSTPQDIALMDAHKGAEMF
  RRVHVPVLGLVQNMSVFQCPKCKHKTHIFGADGARKLAQTLGLEVLGDIPLHLNIREASDTGQPIVFSQPESDEA
  KAYLRIAVEVVRRLPSPSE

• Structural information:
  • Interpro: IPR019591  IPR000808  IPR027417  IPR033756  
  • Prosite: PS01215
  • STRING: ENSP00000281081
• Other Databases: GeneCards:  NUBPL  Malacards:  NUBPL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016226	iron-sulfur cluster assembly	IBA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	IBA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0070584	mitochondrion morphogenesis	IMP	biological process
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	TAS	biological process
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:0005886	plasma membrane	IDA	cellular component

Diseases

Associated diseases	References
Mitochondrial complex I deficiency	KEGG:H00473
Mitochondrial complex I deficiency	KEGG:H00473
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)