Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5018
Gene name Gene Name - the full gene name approved by the HGNC.
OXA1L mitochondrial inner membrane insertase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OXA1L
Synonyms (NCBI Gene) Gene synonyms aliases
OXA1, OXA1L1
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs772751581 G>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT027618 hsa-miR-98-5p Microarray 19088304
MIRT029718 hsa-miR-26b-5p Microarray 19088304
MIRT032317 hsa-let-7b-5p Proteomics 18668040
MIRT048480 hsa-miR-100-5p CLASH 23622248
MIRT039277 hsa-miR-671-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20601428
GO:0005739 Component Mitochondrion IDA
GO:0005746 Component Mitochondrial respirasome NAS 9247084
GO:0005759 Component Mitochondrial matrix TAS
GO:0009060 Process Aerobic respiration IMP 7991568
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601066 8526 ENSG00000155463
Protein
UniProt ID Q15070
Protein name Mitochondrial inner membrane protein OXA1L (OXA1Hs) (Oxidase assembly 1-like protein) (OXA1-like protein)
Protein function Mitochondrial membrane insertase that mediates the cotranslational insertion of integral membrane proteins into the mitochondrial inner membrane (PubMed:17936786, PubMed:33602856, PubMed:7991568). Essential for the activity and assembly of cytoc
PDB 6ZM5 , 7A5K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02096 60KD_IMP 140 334 60Kd inner membrane protein Family
Sequence
MAMGLMCGRRELLRLLQSGRRVHSVAGPSQWLGKPLTTRLLFPVAPCCCRPHYLFLAASG
PRSLSTSAISFAEVQVQAPPVVAATPSPTAVPEVASGETADVVQTAAEQSFAELGLGSYT
PVGLIQNLLEFMHVDLGLPWWGAIAACTVFARCLIFPLIVTGQREAARIHNHLPEIQKFS
SRIREAKLAGDHIEYYKASSEMALYQKKHGIKLYKPLILPVTQAPIFISFFIALREMANL
PVPSLQTGGLWWFQDLTVSDPIYILPLAVTATMWAVLELGAETGVQSSDLQWMRNVIRMM
PLITLPITMHFPTAVFMYWLSSNLFSLVQVSCLR
IPAVRTVLKIPQRVVHDLDKLPPREG
FLESFKKGWKNAEMTRQLREREQRMRNQLELAARGPLRQTFTHNPLLQPGKDNPPNIPSS
SSKPKSKYPWHDTLG
Sequence length 435
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Protein export   Mitochondrial translation elongation
Mitochondrial translation termination
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Asthma Associate 26635092
Liver Diseases Associate 37981173
Osteoporosis Associate 33778083
Prostatic Hyperplasia Associate 36974949
Prostatic Neoplasms Associate 36974949