Gene Gene information from NCBI Gene database.
Entrez ID 5018
Gene name OXA1L mitochondrial inner membrane insertase
Gene symbol OXA1L
Synonyms (NCBI Gene)
OXA1OXA1L1
Chromosome 14
Chromosome location 14q11.2
Summary 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.
1
SNP ID Visualize variation Clinical significance Consequence
rs772751581 G>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601066 8526 ENSG00000155463
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Mitochondrial disease Pathogenic rs1566433812, rs772751581 RCV000714478
RCV000714479
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MITOCHONDRIAL DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OXA1L-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostate cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma Pubtator 26635092 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 30032071
★☆☆☆☆
Found in Text Mining only
Autosomal Recessive Primary Microcephaly Microcephaly BEFREE 22521416, 23918663
★☆☆☆☆
Found in Text Mining only
Biliary Tract Cancer Biliary Tract Cancer BEFREE 16439986
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 25148033, 29463995
★☆☆☆☆
Found in Text Mining only
Blepharophimosis Blepharophimosis BEFREE 11748618
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 1795101, 29886893
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 29463995
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 25015569, 30009892
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 19291315
★☆☆☆☆
Found in Text Mining only