OXA1L (OXA1L mitochondrial inner membrane insertase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs772751581 G>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(185)
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(28)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20601428
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601066 8526 ENSG00000155463
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
PLITLPITMHFPTAVFMYWLSSNLFSLVQVSCLRIPAVRTVLKIPQRVVHDLDKLPPREG
FLESFKKGWKNAEMTRQLREREQRMRNQLELAARGPLRQTFTHNPLLQPGKDNPPNIPSS
SSKPKSKYPWHDTLG
Sequence length 435
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Protein export   Mitochondrial translation elongation
Mitochondrial translation termination
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Fatal Mitochondrial Disease Mitochondrial disease rs1566433812, rs772751581 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Asthma Associate 26635092
Liver Diseases Associate 37981173
Osteoporosis Associate 33778083
Prostatic Hyperplasia Associate 36974949
Prostatic Neoplasms Associate 36974949