Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs772751581	G>T	Pathogenic	Coding sequence variant, missense variant

185

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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
MIRT038752	hsa-miR-93-3p	CLASH	23622248
MIRT036700	hsa-miR-301b-3p	CLASH	23622248
MIRT680404	hsa-miR-6796-3p	HITS-CLIP	23824327
MIRT680403	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT680402	hsa-miR-5693	HITS-CLIP	23824327
MIRT680401	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT680400	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT680399	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT680398	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT680397	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT680396	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT680395	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT680394	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT680393	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT680392	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT680391	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT680390	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT680389	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT680388	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT680387	hsa-miR-4284	HITS-CLIP	23824327
MIRT680386	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT680385	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT680384	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT680383	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT680382	hsa-miR-5698	HITS-CLIP	23824327
MIRT648840	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT648839	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT648838	hsa-miR-1253	HITS-CLIP	23824327
MIRT648837	hsa-miR-6770-5p	HITS-CLIP	23824327
MIRT648836	hsa-miR-4294	HITS-CLIP	23824327
MIRT648835	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT648834	hsa-miR-580-3p	HITS-CLIP	23824327
MIRT680404	hsa-miR-6796-3p	HITS-CLIP	23824327
MIRT680403	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT680402	hsa-miR-5693	HITS-CLIP	23824327
MIRT680401	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT680400	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT680399	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT680398	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT680397	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT680396	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT680395	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT680394	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT680393	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT680392	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT680391	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT680390	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT680389	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT680388	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT680387	hsa-miR-4284	HITS-CLIP	23824327
MIRT680386	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT680385	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT680384	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT680383	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT680382	hsa-miR-5698	HITS-CLIP	23824327
MIRT648840	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT648839	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT648838	hsa-miR-1253	HITS-CLIP	23824327
MIRT648837	hsa-miR-6770-5p	HITS-CLIP	23824327
MIRT648836	hsa-miR-4294	HITS-CLIP	23824327
MIRT648835	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT648834	hsa-miR-580-3p	HITS-CLIP	23824327
MIRT1208454	hsa-miR-1185	CLIP-seq
MIRT1208455	hsa-miR-1224-5p	CLIP-seq
MIRT1208456	hsa-miR-1255a	CLIP-seq
MIRT1208457	hsa-miR-1255b	CLIP-seq
MIRT1208458	hsa-miR-1257	CLIP-seq
MIRT1208459	hsa-miR-1264	CLIP-seq
MIRT1208460	hsa-miR-1304	CLIP-seq
MIRT1208461	hsa-miR-1825	CLIP-seq
MIRT1208462	hsa-miR-1912	CLIP-seq
MIRT1208463	hsa-miR-2052	CLIP-seq
MIRT1208464	hsa-miR-3130-5p	CLIP-seq
MIRT1208465	hsa-miR-340	CLIP-seq
MIRT1208466	hsa-miR-3605-5p	CLIP-seq
MIRT1208467	hsa-miR-3614-5p	CLIP-seq
MIRT1208468	hsa-miR-3659	CLIP-seq
MIRT1208469	hsa-miR-3664-5p	CLIP-seq
MIRT1208470	hsa-miR-3679-5p	CLIP-seq
MIRT1208471	hsa-miR-3915	CLIP-seq
MIRT1208472	hsa-miR-4482	CLIP-seq
MIRT1208473	hsa-miR-4677-3p	CLIP-seq
MIRT1208474	hsa-miR-4679	CLIP-seq
MIRT1208475	hsa-miR-4689	CLIP-seq
MIRT1208476	hsa-miR-4747-5p	CLIP-seq
MIRT1208477	hsa-miR-4790-3p	CLIP-seq
MIRT1208478	hsa-miR-4803	CLIP-seq
MIRT1208479	hsa-miR-618	CLIP-seq
MIRT1208480	hsa-miR-627	CLIP-seq
MIRT1208481	hsa-miR-924	CLIP-seq
MIRT1208454	hsa-miR-1185	CLIP-seq
MIRT2059884	hsa-miR-1197	CLIP-seq
MIRT1208455	hsa-miR-1224-5p	CLIP-seq
MIRT1208456	hsa-miR-1255a	CLIP-seq
MIRT1208457	hsa-miR-1255b	CLIP-seq
MIRT2059885	hsa-miR-128	CLIP-seq
MIRT1208460	hsa-miR-1304	CLIP-seq
MIRT1208461	hsa-miR-1825	CLIP-seq
MIRT1208462	hsa-miR-1912	CLIP-seq
MIRT1208463	hsa-miR-2052	CLIP-seq
MIRT2059886	hsa-miR-3074-5p	CLIP-seq
MIRT2059887	hsa-miR-3117-3p	CLIP-seq
MIRT1208464	hsa-miR-3130-5p	CLIP-seq
MIRT2059888	hsa-miR-3169	CLIP-seq
MIRT1208465	hsa-miR-340	CLIP-seq
MIRT1208466	hsa-miR-3605-5p	CLIP-seq
MIRT1208467	hsa-miR-3614-5p	CLIP-seq
MIRT1208468	hsa-miR-3659	CLIP-seq
MIRT1208470	hsa-miR-3679-5p	CLIP-seq
MIRT1208471	hsa-miR-3915	CLIP-seq
MIRT2059889	hsa-miR-3921	CLIP-seq
MIRT2059890	hsa-miR-433	CLIP-seq
MIRT1208472	hsa-miR-4482	CLIP-seq
MIRT2059891	hsa-miR-4515	CLIP-seq
MIRT2059892	hsa-miR-4653-5p	CLIP-seq
MIRT1208475	hsa-miR-4689	CLIP-seq
MIRT2059893	hsa-miR-4709-3p	CLIP-seq
MIRT2059894	hsa-miR-4722-3p	CLIP-seq
MIRT2059895	hsa-miR-4759	CLIP-seq
MIRT1208478	hsa-miR-4803	CLIP-seq
MIRT2059896	hsa-miR-486-3p	CLIP-seq
MIRT2059897	hsa-miR-593	CLIP-seq
MIRT1208480	hsa-miR-627	CLIP-seq
MIRT1208481	hsa-miR-924	CLIP-seq
MIRT2059884	hsa-miR-1197	CLIP-seq
MIRT2288224	hsa-miR-1227	CLIP-seq
MIRT1208458	hsa-miR-1257	CLIP-seq
MIRT2059885	hsa-miR-128	CLIP-seq
MIRT1208461	hsa-miR-1825	CLIP-seq
MIRT1208462	hsa-miR-1912	CLIP-seq
MIRT2288225	hsa-miR-3064-3p	CLIP-seq
MIRT2059887	hsa-miR-3117-3p	CLIP-seq
MIRT1208464	hsa-miR-3130-5p	CLIP-seq
MIRT2059888	hsa-miR-3169	CLIP-seq
MIRT1208465	hsa-miR-340	CLIP-seq
MIRT1208467	hsa-miR-3614-5p	CLIP-seq
MIRT2288226	hsa-miR-384	CLIP-seq
MIRT1208472	hsa-miR-4482	CLIP-seq
MIRT2059891	hsa-miR-4515	CLIP-seq
MIRT1208476	hsa-miR-4747-5p	CLIP-seq
MIRT2059895	hsa-miR-4759	CLIP-seq
MIRT1208477	hsa-miR-4790-3p	CLIP-seq
MIRT1208478	hsa-miR-4803	CLIP-seq
MIRT2059896	hsa-miR-486-3p	CLIP-seq
MIRT1208465	hsa-miR-340	CLIP-seq
MIRT1208478	hsa-miR-4803	CLIP-seq
MIRT1208458	hsa-miR-1257	CLIP-seq
MIRT1208461	hsa-miR-1825	CLIP-seq
MIRT1208462	hsa-miR-1912	CLIP-seq
MIRT1208464	hsa-miR-3130-5p	CLIP-seq
MIRT1208465	hsa-miR-340	CLIP-seq
MIRT1208467	hsa-miR-3614-5p	CLIP-seq
MIRT1208468	hsa-miR-3659	CLIP-seq
MIRT1208469	hsa-miR-3664-5p	CLIP-seq
MIRT1208472	hsa-miR-4482	CLIP-seq
MIRT1208473	hsa-miR-4677-3p	CLIP-seq
MIRT1208474	hsa-miR-4679	CLIP-seq
MIRT1208476	hsa-miR-4747-5p	CLIP-seq
MIRT1208477	hsa-miR-4790-3p	CLIP-seq
MIRT1208478	hsa-miR-4803	CLIP-seq
MIRT1208479	hsa-miR-618	CLIP-seq
MIRT1208458	hsa-miR-1257	CLIP-seq
MIRT2686923	hsa-miR-1468	CLIP-seq
MIRT1208461	hsa-miR-1825	CLIP-seq
MIRT1208462	hsa-miR-1912	CLIP-seq
MIRT1208464	hsa-miR-3130-5p	CLIP-seq
MIRT1208465	hsa-miR-340	CLIP-seq
MIRT1208467	hsa-miR-3614-5p	CLIP-seq
MIRT2686924	hsa-miR-3646	CLIP-seq
MIRT1208468	hsa-miR-3659	CLIP-seq
MIRT2686925	hsa-miR-3662	CLIP-seq
MIRT1208469	hsa-miR-3664-5p	CLIP-seq
MIRT2059890	hsa-miR-433	CLIP-seq
MIRT1208472	hsa-miR-4482	CLIP-seq
MIRT1208473	hsa-miR-4677-3p	CLIP-seq
MIRT1208474	hsa-miR-4679	CLIP-seq
MIRT1208476	hsa-miR-4747-5p	CLIP-seq
MIRT1208477	hsa-miR-4790-3p	CLIP-seq
MIRT1208478	hsa-miR-4803	CLIP-seq
MIRT1208479	hsa-miR-618	CLIP-seq

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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
GO:0005743	Component	Mitochondrial inner membrane	IDA	33602856
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0009060	Process	Aerobic respiration	IMP	7991568
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	17936786, 20601428
GO:0032543	Process	Mitochondrial translation	TAS
GO:0032780	Process	Negative regulation of ATP-dependent activity	IMP	17936786
GO:0032977	Function	Membrane insertase activity	IBA
GO:0032977	Function	Membrane insertase activity	IDA	33602856
GO:0032977	Function	Membrane insertase activity	IEA
GO:0032977	Function	Membrane insertase activity	TAS
GO:0032979	Process	Protein insertion into mitochondrial inner membrane from matrix	IBA
GO:0032979	Process	Protein insertion into mitochondrial inner membrane from matrix	IDA	33602856
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	17936786, 20601428, 30201738
GO:0032991	Component	Protein-containing complex	IDA	17936786
GO:0033615	Process	Mitochondrial proton-transporting ATP synthase complex assembly	IMP	17936786
GO:0042803	Function	Protein homodimerization activity	IDA	20601428, 20739282
GO:0051262	Process	Protein tetramerization	IDA	20601428, 20739282
GO:0051354	Process	Negative regulation of oxidoreductase activity	IMP	17936786
GO:0097177	Function	Mitochondrial ribosome binding	IDA	20739282, 33602856
GO:0141164	Process	Mitochondrial protein quality control	IDA	38199007

MIM	HGNC	e!Ensembl
601066	8526	ENSG00000155463

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

	KEGG		Reactome
	Protein export		Mitochondrial translation elongation Mitochondrial translation termination

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial disease	Pathogenic	rs1566433812, rs772751581	RCV000714478 RCV000714479

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Myoepithelial tumor	Uncertain significance	rs2501815809	RCV002463937
OXA1L-related disorder	Likely benign	rs540266205, rs75618032, rs767360985	RCV003942235 RCV003968958 RCV003966853
Prostate cancer	Uncertain significance	rs193921091	RCV000149165

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Asthma	Associate	26635092
Liver Diseases	Associate	37981173
Osteoporosis	Associate	33778083
Prostatic Hyperplasia	Associate	36974949
Prostatic Neoplasms	Associate	36974949

OXA1L (OXA1L mitochondrial inner membrane insertase)