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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3030
Gene name Gene Name - the full gene name approved by the HGNC.	Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HADHA
Synonyms (NCBI Gene) Gene synonyms aliases	ECHA, GBP, HADH, LCEH, LCHAD, MLCL AT, MTPA, TP-ALPHA
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p23.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and fo

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SNP ID	Visualize variation	Clinical significance	Consequence
rs71441018	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs116320983	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs116396996	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs137852770	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs137852772	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852773	A>T	Pathogenic	Coding sequence variant, missense variant
rs137852774	A>G,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs137852775	G>A	Pathogenic	Stop gained, coding sequence variant
rs147103714	G>A,T	Likely-pathogenic, pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs200017313	T>C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs772683361	A>G	Pathogenic	Splice donor variant
rs774235292	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs781205883	GAGAT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs781222705	T>C	Likely-pathogenic, pathogenic	Intron variant
rs786204607	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs786205088	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs794727700	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796051972	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057516326	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1057516417	C>T	Likely-pathogenic	Splice donor variant
rs1057516460	GATGCCTGCA>-	Likely-pathogenic, pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs1057516556	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517087	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517282	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1243779049	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1298883200	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1458898996	C>T	Likely-pathogenic	Splice acceptor variant
rs1553314023	TCT>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1553314024	C>A	Likely-pathogenic	Splice acceptor variant
rs1553314070	C>T	Likely-pathogenic	Splice acceptor variant
rs1553316142	GATACC>AT	Pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1553316176	A>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1574623071	->A	Pathogenic	Stop gained, coding sequence variant
rs1574624062	G>A	Likely-pathogenic	Coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT022799	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT052018	hsa-let-7b-5p	CLASH	23622248
MIRT049028	hsa-miR-92a-3p	CLASH	23622248
MIRT042269	hsa-miR-484	CLASH	23622248
MIRT040109	hsa-miR-615-3p	CLASH	23622248
MIRT039455	hsa-miR-421	CLASH	23622248
MIRT037157	hsa-miR-877-3p	CLASH	23622248
MIRT1040450	hsa-miR-124	CLIP-seq
MIRT1040451	hsa-miR-130a	CLIP-seq
MIRT1040452	hsa-miR-130b	CLIP-seq
MIRT1040453	hsa-miR-19a	CLIP-seq
MIRT1040454	hsa-miR-19b	CLIP-seq
MIRT1040455	hsa-miR-224	CLIP-seq
MIRT1040456	hsa-miR-301a	CLIP-seq
MIRT1040457	hsa-miR-301b	CLIP-seq
MIRT1040458	hsa-miR-3129-3p	CLIP-seq
MIRT1040459	hsa-miR-3664-5p	CLIP-seq
MIRT1040460	hsa-miR-3666	CLIP-seq
MIRT1040461	hsa-miR-4295	CLIP-seq
MIRT1040462	hsa-miR-4417	CLIP-seq
MIRT1040463	hsa-miR-4437	CLIP-seq
MIRT1040464	hsa-miR-4468	CLIP-seq
MIRT1040465	hsa-miR-4493	CLIP-seq
MIRT1040466	hsa-miR-4519	CLIP-seq
MIRT1040467	hsa-miR-454	CLIP-seq
MIRT1040468	hsa-miR-4666-3p	CLIP-seq
MIRT1040469	hsa-miR-4674	CLIP-seq
MIRT1040470	hsa-miR-4714-5p	CLIP-seq
MIRT1040471	hsa-miR-4724-3p	CLIP-seq
MIRT1040472	hsa-miR-506	CLIP-seq
MIRT1040473	hsa-miR-511	CLIP-seq
MIRT1040474	hsa-miR-519a	CLIP-seq
MIRT1040475	hsa-miR-519b-3p	CLIP-seq
MIRT1040476	hsa-miR-519c-3p	CLIP-seq
MIRT1040477	hsa-miR-647	CLIP-seq
MIRT1040478	hsa-miR-942	CLIP-seq
MIRT2008428	hsa-miR-1207-3p	CLIP-seq
MIRT2008429	hsa-miR-1226	CLIP-seq
MIRT1040450	hsa-miR-124	CLIP-seq
MIRT2008430	hsa-miR-1245b-3p	CLIP-seq
MIRT2008431	hsa-miR-1245b-5p	CLIP-seq
MIRT2008432	hsa-miR-1267	CLIP-seq
MIRT2008433	hsa-miR-1270	CLIP-seq
MIRT2008434	hsa-miR-1273f	CLIP-seq
MIRT1040451	hsa-miR-130a	CLIP-seq
MIRT1040452	hsa-miR-130b	CLIP-seq
MIRT2008435	hsa-miR-185	CLIP-seq
MIRT2008436	hsa-miR-197	CLIP-seq
MIRT1040455	hsa-miR-224	CLIP-seq
MIRT2008437	hsa-miR-298	CLIP-seq
MIRT2008438	hsa-miR-300	CLIP-seq
MIRT1040456	hsa-miR-301a	CLIP-seq
MIRT1040457	hsa-miR-301b	CLIP-seq
MIRT1040458	hsa-miR-3129-3p	CLIP-seq
MIRT2008439	hsa-miR-3136-5p	CLIP-seq
MIRT2008440	hsa-miR-3142	CLIP-seq
MIRT2008441	hsa-miR-3170	CLIP-seq
MIRT2008442	hsa-miR-3176	CLIP-seq
MIRT2008443	hsa-miR-331-3p	CLIP-seq
MIRT2008444	hsa-miR-3620	CLIP-seq
MIRT2008445	hsa-miR-3652	CLIP-seq
MIRT1040459	hsa-miR-3664-5p	CLIP-seq
MIRT1040460	hsa-miR-3666	CLIP-seq
MIRT2008446	hsa-miR-3689a-3p	CLIP-seq
MIRT2008447	hsa-miR-3689c	CLIP-seq
MIRT2008448	hsa-miR-381	CLIP-seq
MIRT2008449	hsa-miR-3922-3p	CLIP-seq
MIRT2008450	hsa-miR-3928	CLIP-seq
MIRT2008451	hsa-miR-3942-3p	CLIP-seq
MIRT2008452	hsa-miR-412	CLIP-seq
MIRT2008453	hsa-miR-4252	CLIP-seq
MIRT2008454	hsa-miR-4290	CLIP-seq
MIRT1040461	hsa-miR-4295	CLIP-seq
MIRT2008455	hsa-miR-4306	CLIP-seq
MIRT1040462	hsa-miR-4417	CLIP-seq
MIRT2008456	hsa-miR-4419a	CLIP-seq
MIRT2008457	hsa-miR-4430	CLIP-seq
MIRT2008458	hsa-miR-4434	CLIP-seq
MIRT1040463	hsa-miR-4437	CLIP-seq
MIRT2008459	hsa-miR-4439	CLIP-seq
MIRT2008460	hsa-miR-4459	CLIP-seq
MIRT1040464	hsa-miR-4468	CLIP-seq
MIRT2008461	hsa-miR-4473	CLIP-seq
MIRT1040465	hsa-miR-4493	CLIP-seq
MIRT2008462	hsa-miR-4505	CLIP-seq
MIRT2008463	hsa-miR-4508	CLIP-seq
MIRT2008464	hsa-miR-4510	CLIP-seq
MIRT2008465	hsa-miR-4513	CLIP-seq
MIRT2008466	hsa-miR-4514	CLIP-seq
MIRT2008467	hsa-miR-4516	CLIP-seq
MIRT1040466	hsa-miR-4519	CLIP-seq
MIRT2008468	hsa-miR-4531	CLIP-seq
MIRT1040467	hsa-miR-454	CLIP-seq
MIRT2008469	hsa-miR-4644	CLIP-seq
MIRT1040468	hsa-miR-4666-3p	CLIP-seq
MIRT2008470	hsa-miR-4671-3p	CLIP-seq
MIRT1040469	hsa-miR-4674	CLIP-seq
MIRT2008471	hsa-miR-4692	CLIP-seq
MIRT2008472	hsa-miR-4701-5p	CLIP-seq
MIRT1040471	hsa-miR-4724-3p	CLIP-seq
MIRT2008473	hsa-miR-4728-5p	CLIP-seq
MIRT2008474	hsa-miR-4731-5p	CLIP-seq
MIRT2008475	hsa-miR-4733-3p	CLIP-seq
MIRT2008476	hsa-miR-4757-5p	CLIP-seq
MIRT2008477	hsa-miR-4779	CLIP-seq
MIRT2008478	hsa-miR-4789-5p	CLIP-seq
MIRT2008479	hsa-miR-4797-5p	CLIP-seq
MIRT1040472	hsa-miR-506	CLIP-seq
MIRT2008480	hsa-miR-588	CLIP-seq
MIRT2008481	hsa-miR-589	CLIP-seq
MIRT2008482	hsa-miR-620	CLIP-seq
MIRT2008483	hsa-miR-634	CLIP-seq
MIRT2008484	hsa-miR-635	CLIP-seq
MIRT2008485	hsa-miR-642b	CLIP-seq
MIRT2008486	hsa-miR-645	CLIP-seq
MIRT1040477	hsa-miR-647	CLIP-seq
MIRT2008487	hsa-miR-659	CLIP-seq
MIRT2008488	hsa-miR-665	CLIP-seq
MIRT2008489	hsa-miR-760	CLIP-seq
MIRT2008428	hsa-miR-1207-3p	CLIP-seq
MIRT2008429	hsa-miR-1226	CLIP-seq
MIRT2008432	hsa-miR-1267	CLIP-seq
MIRT2008433	hsa-miR-1270	CLIP-seq
MIRT2008434	hsa-miR-1273f	CLIP-seq
MIRT1040451	hsa-miR-130a	CLIP-seq
MIRT1040452	hsa-miR-130b	CLIP-seq
MIRT2008435	hsa-miR-185	CLIP-seq
MIRT2008436	hsa-miR-197	CLIP-seq
MIRT1040455	hsa-miR-224	CLIP-seq
MIRT1040456	hsa-miR-301a	CLIP-seq
MIRT1040457	hsa-miR-301b	CLIP-seq
MIRT1040458	hsa-miR-3129-3p	CLIP-seq
MIRT2008439	hsa-miR-3136-5p	CLIP-seq
MIRT2008441	hsa-miR-3170	CLIP-seq
MIRT2008445	hsa-miR-3652	CLIP-seq
MIRT1040459	hsa-miR-3664-5p	CLIP-seq
MIRT1040460	hsa-miR-3666	CLIP-seq
MIRT2008452	hsa-miR-412	CLIP-seq
MIRT2008453	hsa-miR-4252	CLIP-seq
MIRT1040461	hsa-miR-4295	CLIP-seq
MIRT2008455	hsa-miR-4306	CLIP-seq
MIRT2008456	hsa-miR-4419a	CLIP-seq
MIRT2008457	hsa-miR-4430	CLIP-seq
MIRT2008458	hsa-miR-4434	CLIP-seq
MIRT2008459	hsa-miR-4439	CLIP-seq
MIRT2008460	hsa-miR-4459	CLIP-seq
MIRT2008461	hsa-miR-4473	CLIP-seq
MIRT2008462	hsa-miR-4505	CLIP-seq
MIRT2008464	hsa-miR-4510	CLIP-seq
MIRT2008465	hsa-miR-4513	CLIP-seq
MIRT2008467	hsa-miR-4516	CLIP-seq
MIRT2008468	hsa-miR-4531	CLIP-seq
MIRT1040467	hsa-miR-454	CLIP-seq
MIRT2008469	hsa-miR-4644	CLIP-seq
MIRT2008470	hsa-miR-4671-3p	CLIP-seq
MIRT2008474	hsa-miR-4731-5p	CLIP-seq
MIRT2008475	hsa-miR-4733-3p	CLIP-seq
MIRT2008477	hsa-miR-4779	CLIP-seq
MIRT2008479	hsa-miR-4797-5p	CLIP-seq
MIRT2008481	hsa-miR-589	CLIP-seq
MIRT2008482	hsa-miR-620	CLIP-seq
MIRT2008483	hsa-miR-634	CLIP-seq
MIRT2008485	hsa-miR-642b	CLIP-seq
MIRT1040477	hsa-miR-647	CLIP-seq
MIRT2008487	hsa-miR-659	CLIP-seq
MIRT2008488	hsa-miR-665	CLIP-seq
MIRT2008428	hsa-miR-1207-3p	CLIP-seq
MIRT2008432	hsa-miR-1267	CLIP-seq
MIRT2008433	hsa-miR-1270	CLIP-seq
MIRT1040451	hsa-miR-130a	CLIP-seq
MIRT1040452	hsa-miR-130b	CLIP-seq
MIRT2008437	hsa-miR-298	CLIP-seq
MIRT1040456	hsa-miR-301a	CLIP-seq
MIRT1040457	hsa-miR-301b	CLIP-seq
MIRT2008439	hsa-miR-3136-5p	CLIP-seq
MIRT2008441	hsa-miR-3170	CLIP-seq
MIRT2008445	hsa-miR-3652	CLIP-seq
MIRT1040459	hsa-miR-3664-5p	CLIP-seq
MIRT1040460	hsa-miR-3666	CLIP-seq
MIRT1040461	hsa-miR-4295	CLIP-seq
MIRT2008457	hsa-miR-4430	CLIP-seq
MIRT2008458	hsa-miR-4434	CLIP-seq
MIRT2008459	hsa-miR-4439	CLIP-seq
MIRT2008461	hsa-miR-4473	CLIP-seq
MIRT2008462	hsa-miR-4505	CLIP-seq
MIRT2008465	hsa-miR-4513	CLIP-seq
MIRT2008467	hsa-miR-4516	CLIP-seq
MIRT2008468	hsa-miR-4531	CLIP-seq
MIRT1040467	hsa-miR-454	CLIP-seq
MIRT2008470	hsa-miR-4671-3p	CLIP-seq
MIRT2008474	hsa-miR-4731-5p	CLIP-seq
MIRT2008479	hsa-miR-4797-5p	CLIP-seq
MIRT2008481	hsa-miR-589	CLIP-seq
MIRT2008482	hsa-miR-620	CLIP-seq
MIRT2008483	hsa-miR-634	CLIP-seq
MIRT2008485	hsa-miR-642b	CLIP-seq
MIRT1040477	hsa-miR-647	CLIP-seq
MIRT2008487	hsa-miR-659	CLIP-seq
MIRT2008429	hsa-miR-1226	CLIP-seq
MIRT1040450	hsa-miR-124	CLIP-seq
MIRT2008430	hsa-miR-1245b-3p	CLIP-seq
MIRT2008431	hsa-miR-1245b-5p	CLIP-seq
MIRT2008434	hsa-miR-1273f	CLIP-seq
MIRT1040451	hsa-miR-130a	CLIP-seq
MIRT1040452	hsa-miR-130b	CLIP-seq
MIRT2544456	hsa-miR-1825	CLIP-seq
MIRT2008435	hsa-miR-185	CLIP-seq
MIRT2008436	hsa-miR-197	CLIP-seq
MIRT1040453	hsa-miR-19a	CLIP-seq
MIRT1040454	hsa-miR-19b	CLIP-seq
MIRT1040455	hsa-miR-224	CLIP-seq
MIRT2008437	hsa-miR-298	CLIP-seq
MIRT2008438	hsa-miR-300	CLIP-seq
MIRT1040456	hsa-miR-301a	CLIP-seq
MIRT1040457	hsa-miR-301b	CLIP-seq
MIRT1040458	hsa-miR-3129-3p	CLIP-seq
MIRT2544457	hsa-miR-3130-5p	CLIP-seq
MIRT2008440	hsa-miR-3142	CLIP-seq
MIRT2008442	hsa-miR-3176	CLIP-seq
MIRT2008443	hsa-miR-331-3p	CLIP-seq
MIRT2008444	hsa-miR-3620	CLIP-seq
MIRT2008445	hsa-miR-3652	CLIP-seq
MIRT1040460	hsa-miR-3666	CLIP-seq
MIRT2008446	hsa-miR-3689a-3p	CLIP-seq
MIRT2008447	hsa-miR-3689c	CLIP-seq
MIRT2544458	hsa-miR-371-3p	CLIP-seq
MIRT2008448	hsa-miR-381	CLIP-seq
MIRT2008449	hsa-miR-3922-3p	CLIP-seq
MIRT2008450	hsa-miR-3928	CLIP-seq
MIRT2008451	hsa-miR-3942-3p	CLIP-seq
MIRT2008452	hsa-miR-412	CLIP-seq
MIRT2008453	hsa-miR-4252	CLIP-seq
MIRT2544459	hsa-miR-4270	CLIP-seq
MIRT2008454	hsa-miR-4290	CLIP-seq
MIRT1040461	hsa-miR-4295	CLIP-seq
MIRT2008455	hsa-miR-4306	CLIP-seq
MIRT1040462	hsa-miR-4417	CLIP-seq
MIRT2008456	hsa-miR-4419a	CLIP-seq
MIRT2008457	hsa-miR-4430	CLIP-seq
MIRT1040463	hsa-miR-4437	CLIP-seq
MIRT2544460	hsa-miR-4441	CLIP-seq
MIRT2008460	hsa-miR-4459	CLIP-seq
MIRT1040464	hsa-miR-4468	CLIP-seq
MIRT2544461	hsa-miR-4482	CLIP-seq
MIRT1040465	hsa-miR-4493	CLIP-seq
MIRT2008462	hsa-miR-4505	CLIP-seq
MIRT2008463	hsa-miR-4508	CLIP-seq
MIRT2008464	hsa-miR-4510	CLIP-seq
MIRT2008466	hsa-miR-4514	CLIP-seq
MIRT1040466	hsa-miR-4519	CLIP-seq
MIRT1040467	hsa-miR-454	CLIP-seq
MIRT2008469	hsa-miR-4644	CLIP-seq
MIRT1040468	hsa-miR-4666-3p	CLIP-seq
MIRT1040469	hsa-miR-4674	CLIP-seq
MIRT2008471	hsa-miR-4692	CLIP-seq
MIRT2008472	hsa-miR-4701-5p	CLIP-seq
MIRT1040471	hsa-miR-4724-3p	CLIP-seq
MIRT2008473	hsa-miR-4728-5p	CLIP-seq
MIRT2008475	hsa-miR-4733-3p	CLIP-seq
MIRT2008476	hsa-miR-4757-5p	CLIP-seq
MIRT2008477	hsa-miR-4779	CLIP-seq
MIRT2008478	hsa-miR-4789-5p	CLIP-seq
MIRT2008479	hsa-miR-4797-5p	CLIP-seq
MIRT1040472	hsa-miR-506	CLIP-seq
MIRT1040474	hsa-miR-519a	CLIP-seq
MIRT1040475	hsa-miR-519b-3p	CLIP-seq
MIRT1040476	hsa-miR-519c-3p	CLIP-seq
MIRT2008480	hsa-miR-588	CLIP-seq
MIRT2544462	hsa-miR-604	CLIP-seq
MIRT2008484	hsa-miR-635	CLIP-seq
MIRT2008485	hsa-miR-642b	CLIP-seq
MIRT2008486	hsa-miR-645	CLIP-seq
MIRT1040477	hsa-miR-647	CLIP-seq
MIRT2008487	hsa-miR-659	CLIP-seq
MIRT2008488	hsa-miR-665	CLIP-seq
MIRT2008489	hsa-miR-760	CLIP-seq
MIRT2008429	hsa-miR-1226	CLIP-seq
MIRT1040450	hsa-miR-124	CLIP-seq
MIRT2008430	hsa-miR-1245b-3p	CLIP-seq
MIRT2008431	hsa-miR-1245b-5p	CLIP-seq
MIRT2008434	hsa-miR-1273f	CLIP-seq
MIRT1040451	hsa-miR-130a	CLIP-seq
MIRT1040452	hsa-miR-130b	CLIP-seq
MIRT2544456	hsa-miR-1825	CLIP-seq
MIRT2008435	hsa-miR-185	CLIP-seq
MIRT2008436	hsa-miR-197	CLIP-seq
MIRT1040453	hsa-miR-19a	CLIP-seq
MIRT1040454	hsa-miR-19b	CLIP-seq
MIRT1040455	hsa-miR-224	CLIP-seq
MIRT2008437	hsa-miR-298	CLIP-seq
MIRT2008438	hsa-miR-300	CLIP-seq
MIRT1040456	hsa-miR-301a	CLIP-seq
MIRT1040457	hsa-miR-301b	CLIP-seq
MIRT1040458	hsa-miR-3129-3p	CLIP-seq
MIRT2544457	hsa-miR-3130-5p	CLIP-seq
MIRT2008440	hsa-miR-3142	CLIP-seq
MIRT2008442	hsa-miR-3176	CLIP-seq
MIRT2008443	hsa-miR-331-3p	CLIP-seq
MIRT2008444	hsa-miR-3620	CLIP-seq
MIRT2008445	hsa-miR-3652	CLIP-seq
MIRT1040460	hsa-miR-3666	CLIP-seq
MIRT2008446	hsa-miR-3689a-3p	CLIP-seq
MIRT2008447	hsa-miR-3689c	CLIP-seq
MIRT2544458	hsa-miR-371-3p	CLIP-seq
MIRT2008448	hsa-miR-381	CLIP-seq
MIRT2008449	hsa-miR-3922-3p	CLIP-seq
MIRT2008450	hsa-miR-3928	CLIP-seq
MIRT2008451	hsa-miR-3942-3p	CLIP-seq
MIRT2008452	hsa-miR-412	CLIP-seq
MIRT2008453	hsa-miR-4252	CLIP-seq
MIRT2544459	hsa-miR-4270	CLIP-seq
MIRT2008454	hsa-miR-4290	CLIP-seq
MIRT1040461	hsa-miR-4295	CLIP-seq
MIRT2008455	hsa-miR-4306	CLIP-seq
MIRT1040462	hsa-miR-4417	CLIP-seq
MIRT2008456	hsa-miR-4419a	CLIP-seq
MIRT2008457	hsa-miR-4430	CLIP-seq
MIRT1040463	hsa-miR-4437	CLIP-seq
MIRT2544460	hsa-miR-4441	CLIP-seq
MIRT2008460	hsa-miR-4459	CLIP-seq
MIRT1040464	hsa-miR-4468	CLIP-seq
MIRT2544461	hsa-miR-4482	CLIP-seq
MIRT1040465	hsa-miR-4493	CLIP-seq
MIRT2008462	hsa-miR-4505	CLIP-seq
MIRT2008463	hsa-miR-4508	CLIP-seq
MIRT2008464	hsa-miR-4510	CLIP-seq
MIRT2008466	hsa-miR-4514	CLIP-seq
MIRT1040466	hsa-miR-4519	CLIP-seq
MIRT1040467	hsa-miR-454	CLIP-seq
MIRT2008469	hsa-miR-4644	CLIP-seq
MIRT1040468	hsa-miR-4666-3p	CLIP-seq
MIRT1040469	hsa-miR-4674	CLIP-seq
MIRT2008471	hsa-miR-4692	CLIP-seq
MIRT2008472	hsa-miR-4701-5p	CLIP-seq
MIRT1040471	hsa-miR-4724-3p	CLIP-seq
MIRT2008473	hsa-miR-4728-5p	CLIP-seq
MIRT2008475	hsa-miR-4733-3p	CLIP-seq
MIRT2008476	hsa-miR-4757-5p	CLIP-seq
MIRT2008477	hsa-miR-4779	CLIP-seq
MIRT2008478	hsa-miR-4789-5p	CLIP-seq
MIRT2008479	hsa-miR-4797-5p	CLIP-seq
MIRT1040472	hsa-miR-506	CLIP-seq
MIRT1040474	hsa-miR-519a	CLIP-seq
MIRT1040475	hsa-miR-519b-3p	CLIP-seq
MIRT1040476	hsa-miR-519c-3p	CLIP-seq
MIRT2008480	hsa-miR-588	CLIP-seq
MIRT2544462	hsa-miR-604	CLIP-seq
MIRT2008484	hsa-miR-635	CLIP-seq
MIRT2008485	hsa-miR-642b	CLIP-seq
MIRT2008486	hsa-miR-645	CLIP-seq
MIRT1040477	hsa-miR-647	CLIP-seq
MIRT2008487	hsa-miR-659	CLIP-seq
MIRT2008488	hsa-miR-665	CLIP-seq
MIRT2008489	hsa-miR-760	CLIP-seq

Show/Hide all(39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IEA
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	TAS	8135828
GO:0003985	Function	Acetyl-CoA C-acetyltransferase activity	TAS	8135828
GO:0004300	Function	Enoyl-CoA hydratase activity	IBA
GO:0004300	Function	Enoyl-CoA hydratase activity	IEA
GO:0004300	Function	Enoyl-CoA hydratase activity	TAS	8135828
GO:0005515	Function	Protein binding	IPI	20562859, 28514442, 29915090, 30850536, 32814053, 33961781
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	23152787
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	29915090
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0006635	Process	Fatty acid beta-oxidation	IDA	29915090
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IMP	31604922
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016507	Component	Mitochondrial fatty acid beta-oxidation multienzyme complex	IBA
GO:0016507	Component	Mitochondrial fatty acid beta-oxidation multienzyme complex	IEA
GO:0016507	Component	Mitochondrial fatty acid beta-oxidation multienzyme complex	IPI	29915090
GO:0016509	Function	Long-chain (3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IBA
GO:0016509	Function	Long-chain (3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0018812	Function	3-hydroxyacyl-CoA dehydratase activity	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0035965	Process	Cardiolipin acyl-chain remodeling	IDA	23152787
GO:0035965	Process	Cardiolipin acyl-chain remodeling	IMP	31604922
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578
GO:0052816	Function	Long-chain fatty acyl-CoA hydrolase activity	IDA	22586271
GO:0070403	Function	NAD+ binding	IEA

MIM	HGNC	e!Ensembl
600890	4801	ENSG00000084754

Protein

UniProt ID

P40939

Protein name

Trifunctional enzyme subunit alpha, mitochondrial (78 kDa gastrin-binding protein) (Monolysocardiolipin acyltransferase) (MLCL AT) (EC 2.3.1.-) (TP-alpha) [Includes: Long-chain enoyl-CoA hydratase (EC 4.2.1.17); Long chain 3-hydroxyacyl-CoA dehydrogenase

Protein function

Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway (PubMed:1550553, PubMed:29915090, PubMed:30850536, PubMed:8135828, PubMed:31604922). The mitochondrial beta-oxidation p

PDB

5ZQZ , 5ZRV , 6DV2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00378	ECH_1	44 → 242	Enoyl-CoA hydratase/isomerase	Domain
PF02737	3HCDH_N	363 → 542	3-hydroxyacyl-CoA dehydrogenase, NAD binding domain	Domain
PF00725	3HCDH	544 → 639	3-hydroxyacyl-CoA dehydrogenase, C-terminal domain	Domain
PF00725	3HCDH	673 → 760	3-hydroxyacyl-CoA dehydrogenase, C-terminal domain	Domain

Sequence

MVACRAIGILSRFSAFRILRSRGYICRNFTGSSALLTRTHINYGVKGDVAVVRINSPNSK
VNTLSKELHSEFSEVMNEIWASDQIRSAVLISSKPGCFIAGADINMLAACKTLQEVTQLS
QEAQRIVEKLEKSTKPIVAAINGSCLGGGLEVAISCQYRIATKDRKTVLGTPEVLLGALP
GAGGTQRLPKMVGVPAALDMMLTGRSIRADRAKKMGLVDQLVEPLGPGLKPPEERTIEYL
EEVAITFAKGLADKKISPKRDKGLVEKLTAYAMTIPFVRQQVYKKVEEKVRKQTKGLYPA
PLKIIDVVKTGIEQGSDAGYLCESQKFGELVMTKESKALMGLYHGQVLCKKNKFGAPQKD
VKHLAILGAGLMGAGIAQVSVDKGLKTILKDATLTALDRGQQQVFKGLNDKVKKKALTSF
ERDSIFSNLTGQLDYQGFEKADMVIEAVFEDLSLKHRVLKEVEAVIPDHCIFASNTSALP
ISEIAAVSKRPEKVIGMHYFSPVDKMQLLEIITTEKTSKDTSASAVAVGLKQGKVIIVVK
DGPGFYTTRCLAPMMSEVIRILQEGVDPKKLDSLTTSFGFPVGAATLVDEVGVDVAKHVA
EDLGKVFGERFGGGNPELLTQMVSKGFLGRKSGKGFYIYQEGVKRKDLNSDMDSILASLK
LPPKSEVSSDEDIQFRLVTRFVNEAVMCLQEGILATPAEGDIGAVFGLGFPPCLGGPFRF
VDLYGAQKIVDRLKKYEAAYGKQFTPCQLLADHANSPNKKFYQ

Sequence length

763

Interactions

View interactions

	KEGG		Reactome
	Fatty acid elongation Fatty acid degradation Valine, leucine and isoleucine degradation Lysine degradation Tryptophan metabolism beta-Alanine metabolism Propanoate metabolism Butanoate metabolism Metabolic pathways Fatty acid metabolism		Acyl chain remodeling of CL Beta oxidation of myristoyl-CoA to lauroyl-CoA mitochondrial fatty acid beta-oxidation of unsaturated fatty acids Beta oxidation of palmitoyl-CoA to myristoyl-CoA Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA Beta oxidation of octanoyl-CoA to hexanoyl-CoA Beta oxidation of hexanoyl-CoA to butanoyl-CoA

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency	long chain 3-hydroxyacyl-coa dehydrogenase deficiency	rs769580842, rs1553311706, rs1553314070, rs1057516326, rs1167218743, rs1300516636, rs1057516217, rs1574600309, rs1057517430, rs786204607, rs1553314024, rs1553311645, rs1057516991, rs1243779049, rs781205883 View all (43 more)	N/A
Mitochondrial trifunctional protein deficiency	mitochondrial trifunctional protein deficiency	rs747985669, rs1574600309, rs769580842, rs137852772, rs137852769, rs1243779049, rs137852770, rs147103714, rs1574602991, rs786205088, rs868816467, rs1574624062, rs749848370, rs137852771	N/A

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute fatty liver of pregnancy	Associate	7846063
Adenocarcinoma	Associate	22471497
Carcinoma Hepatocellular	Associate	32033570, 35286894
Carcinoma Non Small Cell Lung	Stimulate	22471497
Carcinoma Renal Cell	Inhibit	26715271
Cardiomyopathy Hypertrophic	Associate	33887580
Cardiovascular Diseases	Inhibit	39644572
Chanarin Dorfman Syndrome	Associate	26109258, 30912279, 40225143
Chondrodysplasia Punctata Rhizomelic	Associate	1347505
Congenital Abnormalities	Associate	29459657
COVID 19	Associate	35955824
Cytomegalovirus Infections	Associate	39283617
Dyslipidemias	Associate	27871288
Hypertensive Retinopathy	Associate	35383965
Immunologic Deficiency Syndromes	Inhibit	2365812
Liver Diseases	Associate	39840890
Lung Neoplasms	Associate	22471497
Lymphoma	Associate	31527828
Lymphoma Large B Cell Diffuse	Associate	31527828
Metabolic Diseases	Associate	29095929
Neoplasm Metastasis	Associate	26715271
Neoplasms	Associate	26715271, 33393495, 34850779
Non alcoholic Fatty Liver Disease	Associate	36055749
Obesity Maternal	Associate	27871288
Pancreatic Neoplasms	Associate	34168259
Pre Eclampsia	Inhibit	37764661
Retinal Dystrophies	Associate	39596324
Rhabdomyolysis	Associate	32978841
Small Cell Lung Carcinoma	Stimulate	22471497
Sudden Infant Death	Associate	8770876
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Associate	17043408, 26109258, 29095929, 29459657, 34878152, 39283617, 7738175, 7846063, 8770876
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Inhibit	1830138, 7846063
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Stimulate	35383965
Wilms Tumor	Inhibit	34850779

HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha)