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	80224
Gene name	NUBP iron-sulfur cluster assembly factor, mitochondrial
Gene symbol	NUBPL
Synonyms (NCBI Gene)	C14orf127IND1MC1DN21huInd1
Chromosome	14
Chromosome location	14q12
Summary	This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane.

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SNP ID	Visualize variation	Clinical significance	Consequence
rs61752327	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, genic downstream transcript variant, 5 prime UTR variant, missense variant
rs118161496	T>C	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Intron variant, genic downstream transcript variant
rs201430951	T>C	Uncertain-significance, pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs397515440	G>T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs552722349	A>C,G	Pathogenic	Intron variant, missense variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs751631278	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs767543623	C>G,T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, synonymous variant, coding sequence variant
rs879255565	->CCTTGTGCTG	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, inframe indel, genic downstream transcript variant
rs1431275151	->T	Pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555338209	C>T	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, intron variant, genic downstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030602	hsa-miR-24-3p	Microarray	19748357
MIRT030975	hsa-miR-21-5p	Microarray	18591254
MIRT675478	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT675477	hsa-miR-3155a	HITS-CLIP	23824327
MIRT675476	hsa-miR-3155b	HITS-CLIP	23824327
MIRT675475	hsa-miR-484	HITS-CLIP	23824327
MIRT675474	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT675473	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT675472	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT675471	hsa-miR-4635	HITS-CLIP	23824327
MIRT675470	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT675469	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT675468	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT675467	hsa-miR-6131	HITS-CLIP	23824327
MIRT675466	hsa-miR-6801-5p	HITS-CLIP	23824327
MIRT675465	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT675464	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT675463	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT675462	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT675461	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT675460	hsa-miR-640	HITS-CLIP	23824327
MIRT675459	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT641400	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT641399	hsa-miR-106b-3p	HITS-CLIP	23824327
MIRT641398	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT641397	hsa-miR-143-3p	HITS-CLIP	23824327
MIRT641395	hsa-miR-4770	HITS-CLIP	23824327
MIRT641396	hsa-miR-6088	HITS-CLIP	23824327
MIRT641394	hsa-miR-4708-5p	HITS-CLIP	23824327
MIRT641393	hsa-miR-1273f	HITS-CLIP	23824327
MIRT641392	hsa-miR-4534	HITS-CLIP	23824327
MIRT641391	hsa-miR-8082	HITS-CLIP	23824327
MIRT641390	hsa-miR-1289	HITS-CLIP	23824327
MIRT641389	hsa-miR-4294	HITS-CLIP	23824327
MIRT641388	hsa-miR-3198	HITS-CLIP	23824327
MIRT641387	hsa-miR-4309	HITS-CLIP	23824327
MIRT675478	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT675477	hsa-miR-3155a	HITS-CLIP	23824327
MIRT675476	hsa-miR-3155b	HITS-CLIP	23824327
MIRT675475	hsa-miR-484	HITS-CLIP	23824327
MIRT675474	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT675473	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT675472	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT675471	hsa-miR-4635	HITS-CLIP	23824327
MIRT675470	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT675469	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT675468	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT675467	hsa-miR-6131	HITS-CLIP	23824327
MIRT675466	hsa-miR-6801-5p	HITS-CLIP	23824327
MIRT675465	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT675464	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT675463	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT675462	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT675461	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT675460	hsa-miR-640	HITS-CLIP	23824327
MIRT675459	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT641400	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT641399	hsa-miR-106b-3p	HITS-CLIP	23824327
MIRT641398	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT641397	hsa-miR-143-3p	HITS-CLIP	23824327
MIRT641395	hsa-miR-4770	HITS-CLIP	23824327
MIRT641396	hsa-miR-6088	HITS-CLIP	23824327
MIRT641394	hsa-miR-4708-5p	HITS-CLIP	23824327
MIRT641393	hsa-miR-1273f	HITS-CLIP	23824327
MIRT641392	hsa-miR-4534	HITS-CLIP	23824327
MIRT641391	hsa-miR-8082	HITS-CLIP	23824327
MIRT641390	hsa-miR-1289	HITS-CLIP	23824327
MIRT641389	hsa-miR-4294	HITS-CLIP	23824327
MIRT641388	hsa-miR-3198	HITS-CLIP	23824327
MIRT641387	hsa-miR-4309	HITS-CLIP	23824327
MIRT1196640	hsa-miR-1224-3p	CLIP-seq
MIRT1196641	hsa-miR-197	CLIP-seq
MIRT1196642	hsa-miR-3149	CLIP-seq
MIRT1196643	hsa-miR-3155	CLIP-seq
MIRT1196644	hsa-miR-3545-3p	CLIP-seq
MIRT1196645	hsa-miR-3690	CLIP-seq
MIRT1196646	hsa-miR-411	CLIP-seq
MIRT1196647	hsa-miR-4254	CLIP-seq
MIRT1196648	hsa-miR-4275	CLIP-seq
MIRT1196649	hsa-miR-433	CLIP-seq
MIRT1196650	hsa-miR-4499	CLIP-seq
MIRT1196651	hsa-miR-4735-5p	CLIP-seq
MIRT1196652	hsa-miR-4775	CLIP-seq
MIRT1196653	hsa-miR-483-3p	CLIP-seq
MIRT1196654	hsa-miR-483-5p	CLIP-seq
MIRT1196655	hsa-miR-5096	CLIP-seq
MIRT1196656	hsa-miR-577	CLIP-seq
MIRT1196657	hsa-miR-590-3p	CLIP-seq
MIRT1196658	hsa-miR-122	CLIP-seq
MIRT1196659	hsa-miR-1254	CLIP-seq
MIRT1196660	hsa-miR-1301	CLIP-seq
MIRT1196641	hsa-miR-197	CLIP-seq
MIRT1196661	hsa-miR-1976	CLIP-seq
MIRT1196662	hsa-miR-200b	CLIP-seq
MIRT1196663	hsa-miR-200c	CLIP-seq
MIRT1196664	hsa-miR-203	CLIP-seq
MIRT1196665	hsa-miR-21	CLIP-seq
MIRT1196666	hsa-miR-3116	CLIP-seq
MIRT1196667	hsa-miR-3135b	CLIP-seq
MIRT1196668	hsa-miR-3137	CLIP-seq
MIRT1196642	hsa-miR-3149	CLIP-seq
MIRT1196643	hsa-miR-3155	CLIP-seq
MIRT1196669	hsa-miR-3652	CLIP-seq
MIRT1196670	hsa-miR-3671	CLIP-seq
MIRT1196671	hsa-miR-3686	CLIP-seq
MIRT1196645	hsa-miR-3690	CLIP-seq
MIRT1196672	hsa-miR-369-3p	CLIP-seq
MIRT1196673	hsa-miR-374c	CLIP-seq
MIRT1196674	hsa-miR-410	CLIP-seq
MIRT1196646	hsa-miR-411	CLIP-seq
MIRT1196647	hsa-miR-4254	CLIP-seq
MIRT1196675	hsa-miR-4279	CLIP-seq
MIRT1196676	hsa-miR-429	CLIP-seq
MIRT1196677	hsa-miR-4430	CLIP-seq
MIRT1196678	hsa-miR-4438	CLIP-seq
MIRT1196679	hsa-miR-4456	CLIP-seq
MIRT1196650	hsa-miR-4499	CLIP-seq
MIRT1196680	hsa-miR-4517	CLIP-seq
MIRT1196681	hsa-miR-451b	CLIP-seq
MIRT1196682	hsa-miR-4652-3p	CLIP-seq
MIRT1196683	hsa-miR-4660	CLIP-seq
MIRT1196684	hsa-miR-4686	CLIP-seq
MIRT1196685	hsa-miR-4694-3p	CLIP-seq
MIRT1196686	hsa-miR-4715-3p	CLIP-seq
MIRT1196687	hsa-miR-4722-3p	CLIP-seq
MIRT1196688	hsa-miR-4729	CLIP-seq
MIRT1196651	hsa-miR-4735-5p	CLIP-seq
MIRT1196689	hsa-miR-4740-3p	CLIP-seq
MIRT1196690	hsa-miR-4747-5p	CLIP-seq
MIRT1196691	hsa-miR-4756-3p	CLIP-seq
MIRT1196692	hsa-miR-4766-3p	CLIP-seq
MIRT1196652	hsa-miR-4775	CLIP-seq
MIRT1196693	hsa-miR-4795-3p	CLIP-seq
MIRT1196694	hsa-miR-4797-5p	CLIP-seq
MIRT1196653	hsa-miR-483-3p	CLIP-seq
MIRT1196654	hsa-miR-483-5p	CLIP-seq
MIRT1196695	hsa-miR-5047	CLIP-seq
MIRT1196696	hsa-miR-5095	CLIP-seq
MIRT1196655	hsa-miR-5096	CLIP-seq
MIRT1196697	hsa-miR-522	CLIP-seq
MIRT1196698	hsa-miR-541	CLIP-seq
MIRT1196699	hsa-miR-548a-3p	CLIP-seq
MIRT1196700	hsa-miR-548e	CLIP-seq
MIRT1196701	hsa-miR-548f	CLIP-seq
MIRT1196702	hsa-miR-584	CLIP-seq
MIRT1196657	hsa-miR-590-3p	CLIP-seq
MIRT1196703	hsa-miR-590-5p	CLIP-seq
MIRT1196704	hsa-miR-654-5p	CLIP-seq
MIRT1196705	hsa-miR-655	CLIP-seq
MIRT1196706	hsa-miR-661	CLIP-seq
MIRT1196707	hsa-miR-668	CLIP-seq
MIRT1196641	hsa-miR-197	CLIP-seq
MIRT1196643	hsa-miR-3155	CLIP-seq
MIRT1196646	hsa-miR-411	CLIP-seq
MIRT1196654	hsa-miR-483-5p	CLIP-seq
MIRT1196655	hsa-miR-5096	CLIP-seq
MIRT2285430	hsa-miR-607	CLIP-seq
MIRT2455536	hsa-miR-2681	CLIP-seq
MIRT1196642	hsa-miR-3149	CLIP-seq
MIRT1196646	hsa-miR-411	CLIP-seq
MIRT1196678	hsa-miR-4438	CLIP-seq
MIRT1196686	hsa-miR-4715-3p	CLIP-seq
MIRT1196651	hsa-miR-4735-5p	CLIP-seq
MIRT1196652	hsa-miR-4775	CLIP-seq
MIRT1196654	hsa-miR-483-5p	CLIP-seq
MIRT1196696	hsa-miR-5095	CLIP-seq
MIRT1196657	hsa-miR-590-3p	CLIP-seq
MIRT2583545	hsa-miR-101	CLIP-seq
MIRT2583546	hsa-miR-1229	CLIP-seq
MIRT2583547	hsa-miR-1245b-3p	CLIP-seq
MIRT1196659	hsa-miR-1254	CLIP-seq
MIRT2583548	hsa-miR-1264	CLIP-seq
MIRT2583549	hsa-miR-1279	CLIP-seq
MIRT1196660	hsa-miR-1301	CLIP-seq
MIRT2583550	hsa-miR-150	CLIP-seq
MIRT1196641	hsa-miR-197	CLIP-seq
MIRT2583551	hsa-miR-2053	CLIP-seq
MIRT1196665	hsa-miR-21	CLIP-seq
MIRT2583552	hsa-miR-2113	CLIP-seq
MIRT2583553	hsa-miR-24	CLIP-seq
MIRT2583554	hsa-miR-2467-3p	CLIP-seq
MIRT1196666	hsa-miR-3116	CLIP-seq
MIRT2583555	hsa-miR-3124-3p	CLIP-seq
MIRT2583556	hsa-miR-3129-3p	CLIP-seq
MIRT1196642	hsa-miR-3149	CLIP-seq
MIRT2583557	hsa-miR-3185	CLIP-seq
MIRT2583558	hsa-miR-340	CLIP-seq
MIRT2583559	hsa-miR-342-3p	CLIP-seq
MIRT2583560	hsa-miR-3611	CLIP-seq
MIRT2583561	hsa-miR-361-5p	CLIP-seq
MIRT2583562	hsa-miR-3617	CLIP-seq
MIRT2583563	hsa-miR-3653	CLIP-seq
MIRT2583564	hsa-miR-3658	CLIP-seq
MIRT1196670	hsa-miR-3671	CLIP-seq
MIRT2583565	hsa-miR-3675-3p	CLIP-seq
MIRT2583566	hsa-miR-3689a-5p	CLIP-seq
MIRT2583567	hsa-miR-3689b	CLIP-seq
MIRT2583568	hsa-miR-3689e	CLIP-seq
MIRT2583569	hsa-miR-3689f	CLIP-seq
MIRT2583570	hsa-miR-374a	CLIP-seq
MIRT2583571	hsa-miR-374b	CLIP-seq
MIRT2583572	hsa-miR-377	CLIP-seq
MIRT2583573	hsa-miR-3913-3p	CLIP-seq
MIRT2583574	hsa-miR-3973	CLIP-seq
MIRT1196646	hsa-miR-411	CLIP-seq
MIRT2583575	hsa-miR-4257	CLIP-seq
MIRT1196648	hsa-miR-4275	CLIP-seq
MIRT2583576	hsa-miR-4284	CLIP-seq
MIRT1196679	hsa-miR-4456	CLIP-seq
MIRT2583577	hsa-miR-4457	CLIP-seq
MIRT2583578	hsa-miR-4477a	CLIP-seq
MIRT2583579	hsa-miR-4511	CLIP-seq
MIRT1196680	hsa-miR-4517	CLIP-seq
MIRT1196681	hsa-miR-451b	CLIP-seq
MIRT2583580	hsa-miR-4522	CLIP-seq
MIRT2583581	hsa-miR-455-3p	CLIP-seq
MIRT2583582	hsa-miR-4640-3p	CLIP-seq
MIRT2583583	hsa-miR-4645-3p	CLIP-seq
MIRT2583584	hsa-miR-4659a-5p	CLIP-seq
MIRT2583585	hsa-miR-4659b-5p	CLIP-seq
MIRT1196683	hsa-miR-4660	CLIP-seq
MIRT2583586	hsa-miR-4661-3p	CLIP-seq
MIRT2583587	hsa-miR-4667-3p	CLIP-seq
MIRT2583588	hsa-miR-4667-5p	CLIP-seq
MIRT2583589	hsa-miR-4679	CLIP-seq
MIRT2583590	hsa-miR-4691-3p	CLIP-seq
MIRT1196685	hsa-miR-4694-3p	CLIP-seq
MIRT2583591	hsa-miR-4700-5p	CLIP-seq
MIRT2583592	hsa-miR-4713-5p	CLIP-seq
MIRT1196686	hsa-miR-4715-3p	CLIP-seq
MIRT2583593	hsa-miR-4719	CLIP-seq
MIRT1196651	hsa-miR-4735-5p	CLIP-seq
MIRT1196690	hsa-miR-4747-5p	CLIP-seq
MIRT2583594	hsa-miR-4753-3p	CLIP-seq
MIRT2583595	hsa-miR-4760-3p	CLIP-seq
MIRT1196692	hsa-miR-4766-3p	CLIP-seq
MIRT2583596	hsa-miR-4768-5p	CLIP-seq
MIRT2583597	hsa-miR-4769-3p	CLIP-seq
MIRT2583598	hsa-miR-4773	CLIP-seq
MIRT1196652	hsa-miR-4775	CLIP-seq
MIRT1196693	hsa-miR-4795-3p	CLIP-seq
MIRT1196654	hsa-miR-483-5p	CLIP-seq
MIRT2583599	hsa-miR-489	CLIP-seq
MIRT2583600	hsa-miR-499-3p	CLIP-seq
MIRT2583601	hsa-miR-499a-3p	CLIP-seq
MIRT1196695	hsa-miR-5047	CLIP-seq
MIRT1196655	hsa-miR-5096	CLIP-seq
MIRT2583602	hsa-miR-513b	CLIP-seq
MIRT2583603	hsa-miR-520g	CLIP-seq
MIRT2583604	hsa-miR-520h	CLIP-seq
MIRT2583605	hsa-miR-532-3p	CLIP-seq
MIRT1196698	hsa-miR-541	CLIP-seq
MIRT2583606	hsa-miR-548b-3p	CLIP-seq
MIRT2583607	hsa-miR-550b	CLIP-seq
MIRT2583608	hsa-miR-561	CLIP-seq
MIRT1196656	hsa-miR-577	CLIP-seq
MIRT2583609	hsa-miR-587	CLIP-seq
MIRT1196657	hsa-miR-590-3p	CLIP-seq
MIRT1196703	hsa-miR-590-5p	CLIP-seq
MIRT2583610	hsa-miR-637	CLIP-seq
MIRT2583611	hsa-miR-641	CLIP-seq
MIRT2583612	hsa-miR-648	CLIP-seq
MIRT1196704	hsa-miR-654-5p	CLIP-seq
MIRT1196706	hsa-miR-661	CLIP-seq
MIRT2583613	hsa-miR-664	CLIP-seq
MIRT2583614	hsa-miR-7	CLIP-seq
MIRT2583615	hsa-miR-758	CLIP-seq
MIRT2583546	hsa-miR-1229	CLIP-seq
MIRT2583547	hsa-miR-1245b-3p	CLIP-seq
MIRT2583548	hsa-miR-1264	CLIP-seq
MIRT2686670	hsa-miR-1305	CLIP-seq
MIRT2583550	hsa-miR-150	CLIP-seq
MIRT1196665	hsa-miR-21	CLIP-seq
MIRT2583552	hsa-miR-2113	CLIP-seq
MIRT2583556	hsa-miR-3129-3p	CLIP-seq
MIRT1196642	hsa-miR-3149	CLIP-seq
MIRT2583557	hsa-miR-3185	CLIP-seq
MIRT2583558	hsa-miR-340	CLIP-seq
MIRT2583559	hsa-miR-342-3p	CLIP-seq
MIRT2583560	hsa-miR-3611	CLIP-seq
MIRT2583562	hsa-miR-3617	CLIP-seq
MIRT1196670	hsa-miR-3671	CLIP-seq
MIRT2583565	hsa-miR-3675-3p	CLIP-seq
MIRT2583566	hsa-miR-3689a-5p	CLIP-seq
MIRT2583567	hsa-miR-3689b	CLIP-seq
MIRT2583568	hsa-miR-3689e	CLIP-seq
MIRT2583569	hsa-miR-3689f	CLIP-seq
MIRT2583573	hsa-miR-3913-3p	CLIP-seq
MIRT2583574	hsa-miR-3973	CLIP-seq
MIRT1196646	hsa-miR-411	CLIP-seq
MIRT1196648	hsa-miR-4275	CLIP-seq
MIRT2686671	hsa-miR-4307	CLIP-seq
MIRT2583577	hsa-miR-4457	CLIP-seq
MIRT1196680	hsa-miR-4517	CLIP-seq
MIRT1196681	hsa-miR-451b	CLIP-seq
MIRT2583580	hsa-miR-4522	CLIP-seq
MIRT2583582	hsa-miR-4640-3p	CLIP-seq
MIRT2583586	hsa-miR-4661-3p	CLIP-seq
MIRT2583587	hsa-miR-4667-3p	CLIP-seq
MIRT2583588	hsa-miR-4667-5p	CLIP-seq
MIRT2583589	hsa-miR-4679	CLIP-seq
MIRT2583590	hsa-miR-4691-3p	CLIP-seq
MIRT2686672	hsa-miR-4698	CLIP-seq
MIRT2583591	hsa-miR-4700-5p	CLIP-seq
MIRT2583592	hsa-miR-4713-5p	CLIP-seq
MIRT1196686	hsa-miR-4715-3p	CLIP-seq
MIRT1196651	hsa-miR-4735-5p	CLIP-seq
MIRT2583594	hsa-miR-4753-3p	CLIP-seq
MIRT2583595	hsa-miR-4760-3p	CLIP-seq
MIRT1196692	hsa-miR-4766-3p	CLIP-seq
MIRT2583596	hsa-miR-4768-5p	CLIP-seq
MIRT2583598	hsa-miR-4773	CLIP-seq
MIRT1196652	hsa-miR-4775	CLIP-seq
MIRT1196693	hsa-miR-4795-3p	CLIP-seq
MIRT1196654	hsa-miR-483-5p	CLIP-seq
MIRT2583599	hsa-miR-489	CLIP-seq
MIRT2583600	hsa-miR-499-3p	CLIP-seq
MIRT2583601	hsa-miR-499a-3p	CLIP-seq
MIRT2583602	hsa-miR-513b	CLIP-seq
MIRT2583603	hsa-miR-520g	CLIP-seq
MIRT2583604	hsa-miR-520h	CLIP-seq
MIRT2583605	hsa-miR-532-3p	CLIP-seq
MIRT2583608	hsa-miR-561	CLIP-seq
MIRT1196656	hsa-miR-577	CLIP-seq
MIRT2583609	hsa-miR-587	CLIP-seq
MIRT1196657	hsa-miR-590-3p	CLIP-seq
MIRT1196703	hsa-miR-590-5p	CLIP-seq
MIRT2285430	hsa-miR-607	CLIP-seq
MIRT2583610	hsa-miR-637	CLIP-seq
MIRT2583611	hsa-miR-641	CLIP-seq
MIRT2583612	hsa-miR-648	CLIP-seq
MIRT2583613	hsa-miR-664	CLIP-seq
MIRT2583615	hsa-miR-758	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	19752196
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0007005	Process	Mitochondrion organization	IMP	19752196
GO:0016226	Process	Iron-sulfur cluster assembly	IBA
GO:0016226	Process	Iron-sulfur cluster assembly	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IBA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	19752196
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IBA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IDA	19752196
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0140663	Function	ATP-dependent FeS chaperone activity	IEA

MIM	HGNC	e!Ensembl
613621	20278	ENSG00000151413

Q8TB37

Protein name

Iron-sulfur cluster transfer protein NUBPL (IND1 homolog) (Nucleotide-binding protein-like) (huInd1)

Protein function

Iron-sulfur cluster transfer protein involved in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) (PubMed:19752196). May deliver one or more Fe-S clusters to complex I subunits (PubMed:19752196). {ECO:0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10609	ParA	65 → 311	NUBPL iron-transfer P-loop NTPase	Family

Tissue specificity

TISSUE SPECIFICITY: Highest expression in liver and kidney. expressed at significant levels in small intestine and brain (at protein level). {ECO:0000269|PubMed:19752196}.

Sequence

MGIWQRLLLFGGVSLRAGGGATAPLGGSRAMVCGRQLSGAGSETLKQRRTQIMSRGLPKQ
KPIEGVKQVIVVASGKGGVGKSTTAVNLALALAANDSSKAIGLLDVDVYGPSVPKMMNLK
GNPELSQSNLMRPLLNYGIACMSMGFLVEESEPVVWRGLMVMSAIEKLLRQVDWGQLDYL
VVDMPPGTGDVQLSVSQNIPITGAVIVSTPQDIALMDAHKGAEMFRRVHVPVLGLVQNMS
VFQCPKCKHKTHIFGADGARKLAQTLGLEVLGDIPLHLNIREASDTGQPIVFSQPESDEA
KAYLRIAVEVVRRLPSPSE

Sequence length

319

Interactions

View interactions

	Reactome
			Complex I biogenesis

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial complex I deficiency	Likely pathogenic; Pathogenic	rs201430951	RCV000191115	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 21	Likely pathogenic; Pathogenic	rs201430951, rs863224123, rs1555338209, rs879255565, rs751631278, rs552722349, rs767543623, rs1273822033	RCV000786780 RCV003388417 RCV003989540 RCV000043476 RCV000043478 RCV000043479 RCV000786781 RCV001171379 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency, nuclear type 1	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial oxidative phosphorylation disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NUBPL-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (48)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	30897263	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	30897263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	30897263	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28346728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28346728	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	30897263	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	30897263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	30897263	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Electron Transport Chain Deficiencies, Mitochondrial	Mitochondrial Electron Transport Chain Deficiencies	CTD_human_DG	20818383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	GWASCAT_DG	31113495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated complex I deficiency	Isolated Complex I Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	29568952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	31787496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28346728	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	ORPHANET_DG	20818383, 22644603, 23553477		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	20818383, 23553477, 23828044	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	BEFREE	22072591		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	23553477, 27604308		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	CLINVAR_DG	26633545		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	Mitochondrial Complex Deficiency	UNIPROT_DG	20818383, 23553477		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	Mitochondrial Complex Deficiency	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial Diseases	Mitochondrial Diseases	CTD_human_DG	20818383		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	23553477, 23828044	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	23828044		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial encephalopathy	Mitochondrial encephalopathy	BEFREE	23828044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	Pubtator	23828044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	CTD_human_DG	20818383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10214753, 12805096, 15576045, 18497740, 19336460, 19752196, 20818383, 21766414, 22072591, 22499348, 22826544, 22972949, 23553477, 23828044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oxidative Phosphorylation Deficiencies	Oxidative Phosphorylation Deficiency	CTD_human_DG	20818383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

NUBPL (NUBP iron-sulfur cluster assembly factor, mitochondrial)