• Gene id: 5018

Gene Summary

• Gene Symbol: OXA1L   Gene   UCSC   Ensembl
• Aliases: OXA1
• Gene name: OXA1L mitochondrial inner membrane protein
• Alternate names: mitochondrial inner membrane protein OXA1L, OXA1-like protein, epididymis secretory sperm binding protein, oxidase (cytochrome c) assembly 1-like,
• Gene location: 14q11.2 (22766687: 22773041)     Exons: 10     NC_000014.9
• Gene summary(Entrez): This gene encodes an evolutionarily conserved protein that is localized to the inner mitochondrial membrane. The encoded protein is essential for the translocation of the N-terminal tail of subunit 2 of cytochrome c oxidase, and is involved in the assembl
• OMIM: 600746

Protein Summary

• Protein general information: Q15070  
  • Name: Mitochondrial inner membrane protein OXA1L (Hsa) (OXA1Hs) (Oxidase assembly 1 like protein) (OXA1 like protein)
  • Length: 435  
  • Mass: 48548
• Sequence:

  MAMGLMCGRRELLRLLQSGRRVHSVAGPSQWLGKPLTTRLLFPVAPCCCRPHYLFLAASGPRSLSTSAISFAEVQ
  VQAPPVVAATPSPTAVPEVASGETADVVQTAAEQSFAELGLGSYTPVGLIQNLLEFMHVDLGLPWWGAIAACTVF
  ARCLIFPLIVTGQREAARIHNHLPEIQKFSSRIREAKLAGDHIEYYKASSEMALYQKKHGIKLYKPLILPVTQAP
  IFISFFIALREMANLPVPSLQTGGLWWFQDLTVSDPIYILPLAVTATMWAVLELGAETGVQSSDLQWMRNVIRMM
  PLITLPITMHFPTAVFMYWLSSNLFSLVQVSCLRIPAVRTVLKIPQRVVHDLDKLPPREGFLESFKKGWKNAEMT
  RQLREREQRMRNQLELAARGPLRQTFTHNPLLQPGKDNPPNIPSSSSKPKSKYPWHDTLG

• Structural information:
  • Interpro: IPR028055  IPR001708  
  • STRING: ENSP00000483491
• Other Databases: GeneCards:  OXA1L  Malacards:  OXA1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051205	protein insertion into membrane	IBA	biological process
GO:0032979	protein insertion into mitochondrial inner membrane from matrix	IBA	biological process
GO:0033617	mitochondrial cytochrome c oxidase assembly	IBA	biological process
GO:0032977	membrane insertase activity	IBA	molecular function
GO:0031305	integral component of mitochondrial inner membrane	IBA	cellular component
GO:0097177	mitochondrial ribosome binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0051262	protein tetramerization	IDA	biological process
GO:0051262	protein tetramerization	IDA	biological process
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	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:0016021	integral component of membrane	IEA	cellular component
GO:0032977	membrane insertase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	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:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0070125	mitochondrial translational elongation	TAS	biological process
GO:0070126	mitochondrial translational termination	TAS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0032592	integral component of mitochondrial membrane	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0032780	negative regulation of ATPase activity	IMP	biological process
GO:0009060	aerobic respiration	IMP	biological process
GO:0055114	oxidation-reduction process	NAS	biological process
GO:0051354	negative regulation of oxidoreductase activity	IMP	biological process
GO:0009060	aerobic respiration	NAS	biological process
GO:0005746	mitochondrial respirasome	NAS	cellular component
GO:0033615	mitochondrial proton-transporting ATP synthase complex assembly	IMP	biological process
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0065003	protein-containing complex assembly	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa03060	Protein export

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R