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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	25974
Gene name Gene Name - the full gene name approved by the HGNC.	Metabolism of cobalamin associated C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MMACHC
Synonyms (NCBI Gene) Gene synonyms aliases	cblC
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p34.1
Summary Summary of gene provided in NCBI Entrez Gene.	The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121918240	T>C	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121918241	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs121918242	C>T	Pathogenic	Stop gained, coding sequence variant
rs121918243	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs140522266	G>A,C	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs200094982	A>G	Pathogenic-likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs200895671	C>A,T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs201025783	G>C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Terminator codon variant, stop lost
rs201183360	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs201266016	C>A	Pathogenic	Coding sequence variant, stop gained
rs370596113	C>A,G,T	Pathogenic, likely-pathogenic, likely-benign	Missense variant, coding sequence variant, synonymous variant, stop gained
rs371753672	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs372670428	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs398124292	->A	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant, intron variant
rs398124294	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs398124295	G>A	Pathogenic	Coding sequence variant, stop gained
rs398124296	AAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs528744719	C>G,T	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs538023671	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs556977618	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant, intron variant
rs587776889	G>A	Pathogenic	Stop gained, coding sequence variant
rs606231425	G>A	Pathogenic	Coding sequence variant, missense variant
rs746135357	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs747527726	C>A,G,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs749264632	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs756980496	T>C	Pathogenic	Missense variant, intron variant, coding sequence variant, 5 prime UTR variant
rs757325789	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs759188647	C>T	Pathogenic	Coding sequence variant, stop gained
rs765913293	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs771673343	G>A	Pathogenic-likely-pathogenic	Stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs796051995	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs796051996	G>A	Pathogenic	Coding sequence variant, stop gained
rs796051998	TAC>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, inframe deletion
rs796051999	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs796052000	AACC>-	Pathogenic	Coding sequence variant, frameshift variant
rs796064513	GCCCCC>-	Conflicting-interpretations-of-pathogenicity, not-provided, uncertain-significance	Coding sequence variant, inframe deletion
rs1002571805	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1233135084	T>C	Pathogenic	Coding sequence variant, missense variant
rs1255179780	G>A	Pathogenic-likely-pathogenic	Splice acceptor variant, 5 prime UTR variant, intron variant
rs1257204721	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1305170860	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1311416761	GACT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1347498294	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1356587420	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1463495909	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1481893137	->T	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1553162786	->T	Pathogenic	Intron variant, coding sequence variant, stop gained
rs1553162788	AGAG>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1553162821	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553162857	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553162868	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553162910	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1553162918	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553162923	AGAGGTGCCAGAT>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1553162931	GACTGTGT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553162943	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557607997	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1570829502	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, intron variant
rs1570829757	->G	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1570829862	C>T	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1570833527	->T	Pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT027474	hsa-miR-98-5p	Microarray	19088304
MIRT051928	hsa-let-7b-5p	CLASH	23622248
MIRT038225	hsa-miR-342-5p	CLASH	23622248
MIRT1152816	hsa-miR-105	CLIP-seq
MIRT1152817	hsa-miR-1185	CLIP-seq
MIRT1152818	hsa-miR-1200	CLIP-seq
MIRT1152819	hsa-miR-1227	CLIP-seq
MIRT1152820	hsa-miR-1253	CLIP-seq
MIRT1152821	hsa-miR-1303	CLIP-seq
MIRT1152822	hsa-miR-1539	CLIP-seq
MIRT1152823	hsa-miR-1915	CLIP-seq
MIRT1152824	hsa-miR-24	CLIP-seq
MIRT1152825	hsa-miR-3125	CLIP-seq
MIRT1152826	hsa-miR-3126-5p	CLIP-seq
MIRT1152827	hsa-miR-3135	CLIP-seq
MIRT1152828	hsa-miR-3145-3p	CLIP-seq
MIRT1152829	hsa-miR-3173-5p	CLIP-seq
MIRT1152830	hsa-miR-3187-3p	CLIP-seq
MIRT1152831	hsa-miR-3199	CLIP-seq
MIRT1152832	hsa-miR-3664-5p	CLIP-seq
MIRT1152833	hsa-miR-3679-5p	CLIP-seq
MIRT1152834	hsa-miR-3714	CLIP-seq
MIRT1152835	hsa-miR-3916	CLIP-seq
MIRT1152836	hsa-miR-3926	CLIP-seq
MIRT1152837	hsa-miR-4252	CLIP-seq
MIRT1152838	hsa-miR-4255	CLIP-seq
MIRT1152839	hsa-miR-4284	CLIP-seq
MIRT1152840	hsa-miR-4324	CLIP-seq
MIRT1152841	hsa-miR-4419a	CLIP-seq
MIRT1152842	hsa-miR-4424	CLIP-seq
MIRT1152843	hsa-miR-4432	CLIP-seq
MIRT1152844	hsa-miR-4433	CLIP-seq
MIRT1152845	hsa-miR-4434	CLIP-seq
MIRT1152846	hsa-miR-4435	CLIP-seq
MIRT1152847	hsa-miR-4438	CLIP-seq
MIRT1152848	hsa-miR-4459	CLIP-seq
MIRT1152849	hsa-miR-4493	CLIP-seq
MIRT1152850	hsa-miR-4510	CLIP-seq
MIRT1152851	hsa-miR-4516	CLIP-seq
MIRT1152852	hsa-miR-4522	CLIP-seq
MIRT1152853	hsa-miR-4643	CLIP-seq
MIRT1152854	hsa-miR-4650-5p	CLIP-seq
MIRT1152855	hsa-miR-4653-3p	CLIP-seq
MIRT1152856	hsa-miR-466	CLIP-seq
MIRT1152857	hsa-miR-4678	CLIP-seq
MIRT1152858	hsa-miR-4694-5p	CLIP-seq
MIRT1152859	hsa-miR-4701-5p	CLIP-seq
MIRT1152860	hsa-miR-4726-3p	CLIP-seq
MIRT1152861	hsa-miR-4749-3p	CLIP-seq
MIRT1152862	hsa-miR-4755-3p	CLIP-seq
MIRT1152863	hsa-miR-4761-5p	CLIP-seq
MIRT1152864	hsa-miR-4768-3p	CLIP-seq
MIRT1152865	hsa-miR-4789-3p	CLIP-seq
MIRT1152866	hsa-miR-4793-3p	CLIP-seq
MIRT1152867	hsa-miR-4797-5p	CLIP-seq
MIRT1152868	hsa-miR-486-5p	CLIP-seq
MIRT1152869	hsa-miR-499-5p	CLIP-seq
MIRT1152870	hsa-miR-508-5p	CLIP-seq
MIRT1152871	hsa-miR-5095	CLIP-seq
MIRT1152872	hsa-miR-542-3p	CLIP-seq
MIRT1152873	hsa-miR-544b	CLIP-seq
MIRT1152874	hsa-miR-548ae	CLIP-seq
MIRT1152875	hsa-miR-548aj	CLIP-seq
MIRT1152876	hsa-miR-548am	CLIP-seq
MIRT1152877	hsa-miR-548s	CLIP-seq
MIRT1152878	hsa-miR-548u	CLIP-seq
MIRT1152879	hsa-miR-548x	CLIP-seq
MIRT1152880	hsa-miR-579	CLIP-seq
MIRT1152881	hsa-miR-588	CLIP-seq
MIRT1152882	hsa-miR-766	CLIP-seq
MIRT1152883	hsa-miR-877	CLIP-seq
MIRT1152884	hsa-miR-9	CLIP-seq
MIRT1551339	hsa-miR-2116	CLIP-seq
MIRT1551340	hsa-miR-3135b	CLIP-seq
MIRT1551341	hsa-miR-3689d	CLIP-seq
MIRT1152848	hsa-miR-4459	CLIP-seq
MIRT1551342	hsa-miR-4487	CLIP-seq
MIRT1551343	hsa-miR-4652-3p	CLIP-seq
MIRT1551344	hsa-miR-4677-5p	CLIP-seq
MIRT1152816	hsa-miR-105	CLIP-seq
MIRT2043699	hsa-miR-106a	CLIP-seq
MIRT2043700	hsa-miR-106b	CLIP-seq
MIRT2043701	hsa-miR-1208	CLIP-seq
MIRT1152819	hsa-miR-1227	CLIP-seq
MIRT2043702	hsa-miR-1307	CLIP-seq
MIRT2043703	hsa-miR-138	CLIP-seq
MIRT2043704	hsa-miR-17	CLIP-seq
MIRT2043705	hsa-miR-1910	CLIP-seq
MIRT2043706	hsa-miR-20a	CLIP-seq
MIRT2043707	hsa-miR-20b	CLIP-seq
MIRT2043708	hsa-miR-2114	CLIP-seq
MIRT2043709	hsa-miR-216b	CLIP-seq
MIRT1152825	hsa-miR-3125	CLIP-seq
MIRT1152827	hsa-miR-3135	CLIP-seq
MIRT2043710	hsa-miR-3162-3p	CLIP-seq
MIRT1152830	hsa-miR-3187-3p	CLIP-seq
MIRT2043711	hsa-miR-33a	CLIP-seq
MIRT2043712	hsa-miR-33b	CLIP-seq
MIRT2043713	hsa-miR-3663-5p	CLIP-seq
MIRT2043714	hsa-miR-3671	CLIP-seq
MIRT1152835	hsa-miR-3916	CLIP-seq
MIRT1152836	hsa-miR-3926	CLIP-seq
MIRT2043715	hsa-miR-3927	CLIP-seq
MIRT2043716	hsa-miR-3935	CLIP-seq
MIRT2043717	hsa-miR-3937	CLIP-seq
MIRT2043718	hsa-miR-3944-5p	CLIP-seq
MIRT2043719	hsa-miR-411	CLIP-seq
MIRT1152837	hsa-miR-4252	CLIP-seq
MIRT1152839	hsa-miR-4284	CLIP-seq
MIRT2043720	hsa-miR-4292	CLIP-seq
MIRT2043721	hsa-miR-4308	CLIP-seq
MIRT2043722	hsa-miR-4420	CLIP-seq
MIRT1152843	hsa-miR-4432	CLIP-seq
MIRT1152844	hsa-miR-4433	CLIP-seq
MIRT1152846	hsa-miR-4435	CLIP-seq
MIRT1152848	hsa-miR-4459	CLIP-seq
MIRT2043723	hsa-miR-4638-5p	CLIP-seq
MIRT1152855	hsa-miR-4653-3p	CLIP-seq
MIRT1152859	hsa-miR-4701-5p	CLIP-seq
MIRT2043724	hsa-miR-4703-3p	CLIP-seq
MIRT2043725	hsa-miR-4742-3p	CLIP-seq
MIRT1152862	hsa-miR-4755-3p	CLIP-seq
MIRT1152864	hsa-miR-4768-3p	CLIP-seq
MIRT1152866	hsa-miR-4793-3p	CLIP-seq
MIRT1152867	hsa-miR-4797-5p	CLIP-seq
MIRT2043726	hsa-miR-483-5p	CLIP-seq
MIRT2043727	hsa-miR-485-5p	CLIP-seq
MIRT1152869	hsa-miR-499-5p	CLIP-seq
MIRT1152870	hsa-miR-508-5p	CLIP-seq
MIRT1152871	hsa-miR-5095	CLIP-seq
MIRT2043728	hsa-miR-515-3p	CLIP-seq
MIRT2043729	hsa-miR-519d	CLIP-seq
MIRT2043730	hsa-miR-519e	CLIP-seq
MIRT2043731	hsa-miR-520g	CLIP-seq
MIRT2043732	hsa-miR-520h	CLIP-seq
MIRT1152872	hsa-miR-542-3p	CLIP-seq
MIRT1152877	hsa-miR-548s	CLIP-seq
MIRT1152881	hsa-miR-588	CLIP-seq
MIRT2043733	hsa-miR-607	CLIP-seq
MIRT2043734	hsa-miR-616	CLIP-seq
MIRT2043735	hsa-miR-642b	CLIP-seq
MIRT1152882	hsa-miR-766	CLIP-seq
MIRT2043736	hsa-miR-93	CLIP-seq
MIRT2273135	hsa-miR-1207-5p	CLIP-seq
MIRT1152819	hsa-miR-1227	CLIP-seq
MIRT2273136	hsa-miR-1234	CLIP-seq
MIRT2273137	hsa-miR-1272	CLIP-seq
MIRT2273138	hsa-miR-1273e	CLIP-seq
MIRT2273139	hsa-miR-1293	CLIP-seq
MIRT2273140	hsa-miR-1322	CLIP-seq
MIRT2273141	hsa-miR-142-3p	CLIP-seq
MIRT1152822	hsa-miR-1539	CLIP-seq
MIRT1152823	hsa-miR-1915	CLIP-seq
MIRT2273142	hsa-miR-302f	CLIP-seq
MIRT2273143	hsa-miR-3122	CLIP-seq
MIRT1152827	hsa-miR-3135	CLIP-seq
MIRT2273144	hsa-miR-3165	CLIP-seq
MIRT2273145	hsa-miR-3677-5p	CLIP-seq
MIRT2273146	hsa-miR-3689a-3p	CLIP-seq
MIRT2273147	hsa-miR-3689c	CLIP-seq
MIRT2273148	hsa-miR-3913-5p	CLIP-seq
MIRT1152836	hsa-miR-3926	CLIP-seq
MIRT2273149	hsa-miR-3934	CLIP-seq
MIRT1152837	hsa-miR-4252	CLIP-seq
MIRT2273150	hsa-miR-4269	CLIP-seq
MIRT1152842	hsa-miR-4424	CLIP-seq
MIRT2273151	hsa-miR-4426	CLIP-seq
MIRT1152844	hsa-miR-4433	CLIP-seq
MIRT1152847	hsa-miR-4438	CLIP-seq
MIRT1152848	hsa-miR-4459	CLIP-seq
MIRT2273152	hsa-miR-4483	CLIP-seq
MIRT2273153	hsa-miR-4517	CLIP-seq
MIRT2273154	hsa-miR-4647	CLIP-seq
MIRT1152855	hsa-miR-4653-3p	CLIP-seq
MIRT2273155	hsa-miR-4662a-5p	CLIP-seq
MIRT2273156	hsa-miR-4662b	CLIP-seq
MIRT2273157	hsa-miR-4676-5p	CLIP-seq
MIRT2273158	hsa-miR-4691-3p	CLIP-seq
MIRT2273159	hsa-miR-4698	CLIP-seq
MIRT1152860	hsa-miR-4726-3p	CLIP-seq
MIRT2273160	hsa-miR-4728-5p	CLIP-seq
MIRT2273161	hsa-miR-4731-5p	CLIP-seq
MIRT2273162	hsa-miR-4736	CLIP-seq
MIRT2273163	hsa-miR-4763-3p	CLIP-seq
MIRT1152864	hsa-miR-4768-3p	CLIP-seq
MIRT1152866	hsa-miR-4793-3p	CLIP-seq
MIRT1152867	hsa-miR-4797-5p	CLIP-seq
MIRT1152868	hsa-miR-486-5p	CLIP-seq
MIRT1152870	hsa-miR-508-5p	CLIP-seq
MIRT1152871	hsa-miR-5095	CLIP-seq
MIRT2273164	hsa-miR-510	CLIP-seq
MIRT2273165	hsa-miR-511	CLIP-seq
MIRT2273166	hsa-miR-512-3p	CLIP-seq
MIRT2273167	hsa-miR-512-5p	CLIP-seq
MIRT2273168	hsa-miR-522	CLIP-seq
MIRT1152872	hsa-miR-542-3p	CLIP-seq
MIRT1152877	hsa-miR-548s	CLIP-seq
MIRT1152878	hsa-miR-548u	CLIP-seq
MIRT2273169	hsa-miR-575	CLIP-seq
MIRT2273170	hsa-miR-7	CLIP-seq
MIRT2273171	hsa-miR-759	CLIP-seq
MIRT1152882	hsa-miR-766	CLIP-seq
MIRT1152823	hsa-miR-1915	CLIP-seq
MIRT2273143	hsa-miR-3122	CLIP-seq
MIRT2273146	hsa-miR-3689a-3p	CLIP-seq
MIRT2273147	hsa-miR-3689c	CLIP-seq
MIRT2273148	hsa-miR-3913-5p	CLIP-seq
MIRT1152860	hsa-miR-4726-3p	CLIP-seq
MIRT2273160	hsa-miR-4728-5p	CLIP-seq
MIRT1152868	hsa-miR-486-5p	CLIP-seq
MIRT2438605	hsa-let-7a	CLIP-seq
MIRT2438606	hsa-let-7b	CLIP-seq
MIRT2438607	hsa-let-7c	CLIP-seq
MIRT2438608	hsa-let-7d	CLIP-seq
MIRT2438609	hsa-let-7e	CLIP-seq
MIRT2438610	hsa-let-7f	CLIP-seq
MIRT2438611	hsa-let-7g	CLIP-seq
MIRT2438612	hsa-let-7i	CLIP-seq
MIRT2438613	hsa-miR-202	CLIP-seq
MIRT2438614	hsa-miR-4458	CLIP-seq
MIRT2438615	hsa-miR-4500	CLIP-seq
MIRT1152873	hsa-miR-544b	CLIP-seq
MIRT2438616	hsa-miR-98	CLIP-seq
MIRT2454261	hsa-miR-3613-3p	CLIP-seq
MIRT2454262	hsa-miR-3675-3p	CLIP-seq
MIRT2273149	hsa-miR-3934	CLIP-seq
MIRT2273155	hsa-miR-4662a-5p	CLIP-seq
MIRT2273157	hsa-miR-4676-5p	CLIP-seq
MIRT2454263	hsa-miR-4684-5p	CLIP-seq
MIRT2454264	hsa-miR-4717-3p	CLIP-seq
MIRT2454265	hsa-miR-548c-3p	CLIP-seq
MIRT2273169	hsa-miR-575	CLIP-seq
MIRT2438605	hsa-let-7a	CLIP-seq
MIRT2438606	hsa-let-7b	CLIP-seq
MIRT2438607	hsa-let-7c	CLIP-seq
MIRT2438608	hsa-let-7d	CLIP-seq
MIRT2438609	hsa-let-7e	CLIP-seq
MIRT2438610	hsa-let-7f	CLIP-seq
MIRT2438611	hsa-let-7g	CLIP-seq
MIRT2438612	hsa-let-7i	CLIP-seq
MIRT1152816	hsa-miR-105	CLIP-seq
MIRT2571812	hsa-miR-1225-5p	CLIP-seq
MIRT1152820	hsa-miR-1253	CLIP-seq
MIRT2571813	hsa-miR-1254	CLIP-seq
MIRT2273137	hsa-miR-1272	CLIP-seq
MIRT2571814	hsa-miR-1292	CLIP-seq
MIRT2043702	hsa-miR-1307	CLIP-seq
MIRT2273140	hsa-miR-1322	CLIP-seq
MIRT2571815	hsa-miR-134	CLIP-seq
MIRT2043703	hsa-miR-138	CLIP-seq
MIRT2273141	hsa-miR-142-3p	CLIP-seq
MIRT2571816	hsa-miR-15a	CLIP-seq
MIRT2571817	hsa-miR-15b	CLIP-seq
MIRT2571818	hsa-miR-16	CLIP-seq
MIRT2043705	hsa-miR-1910	CLIP-seq
MIRT1152823	hsa-miR-1915	CLIP-seq
MIRT2571819	hsa-miR-195	CLIP-seq
MIRT2438613	hsa-miR-202	CLIP-seq
MIRT2571820	hsa-miR-2052	CLIP-seq
MIRT2571821	hsa-miR-2110	CLIP-seq
MIRT2043708	hsa-miR-2114	CLIP-seq
MIRT2043709	hsa-miR-216b	CLIP-seq
MIRT2571822	hsa-miR-3116	CLIP-seq
MIRT2571823	hsa-miR-3118	CLIP-seq
MIRT2273143	hsa-miR-3122	CLIP-seq
MIRT1152825	hsa-miR-3125	CLIP-seq
MIRT1152826	hsa-miR-3126-5p	CLIP-seq
MIRT2571824	hsa-miR-3132	CLIP-seq
MIRT2571825	hsa-miR-3140-3p	CLIP-seq
MIRT2571826	hsa-miR-3150a-3p	CLIP-seq
MIRT2571827	hsa-miR-3160-5p	CLIP-seq
MIRT2043710	hsa-miR-3162-3p	CLIP-seq
MIRT2571828	hsa-miR-3164	CLIP-seq
MIRT1152829	hsa-miR-3173-5p	CLIP-seq
MIRT2571829	hsa-miR-3182	CLIP-seq
MIRT1152830	hsa-miR-3187-3p	CLIP-seq
MIRT2571830	hsa-miR-3189-3p	CLIP-seq
MIRT2571831	hsa-miR-339-5p	CLIP-seq
MIRT2454261	hsa-miR-3613-3p	CLIP-seq
MIRT2571832	hsa-miR-3658	CLIP-seq
MIRT2571833	hsa-miR-3662	CLIP-seq
MIRT2043714	hsa-miR-3671	CLIP-seq
MIRT2454262	hsa-miR-3675-3p	CLIP-seq
MIRT2571834	hsa-miR-3676	CLIP-seq
MIRT2273146	hsa-miR-3689a-3p	CLIP-seq
MIRT2273147	hsa-miR-3689c	CLIP-seq
MIRT2273148	hsa-miR-3913-5p	CLIP-seq
MIRT1152835	hsa-miR-3916	CLIP-seq
MIRT2571835	hsa-miR-3918	CLIP-seq
MIRT1152836	hsa-miR-3926	CLIP-seq
MIRT2273149	hsa-miR-3934	CLIP-seq
MIRT2043718	hsa-miR-3944-5p	CLIP-seq
MIRT2571836	hsa-miR-409-5p	CLIP-seq
MIRT2571837	hsa-miR-424	CLIP-seq
MIRT1152838	hsa-miR-4255	CLIP-seq
MIRT2571838	hsa-miR-4260	CLIP-seq
MIRT2571839	hsa-miR-4264	CLIP-seq
MIRT2571840	hsa-miR-4271	CLIP-seq
MIRT2571841	hsa-miR-4272	CLIP-seq
MIRT1152839	hsa-miR-4284	CLIP-seq
MIRT2043720	hsa-miR-4292	CLIP-seq
MIRT2571842	hsa-miR-4302	CLIP-seq
MIRT2043721	hsa-miR-4308	CLIP-seq
MIRT1152841	hsa-miR-4419a	CLIP-seq
MIRT1152845	hsa-miR-4434	CLIP-seq
MIRT1152846	hsa-miR-4435	CLIP-seq
MIRT1152847	hsa-miR-4438	CLIP-seq
MIRT2571843	hsa-miR-4446-3p	CLIP-seq
MIRT2571844	hsa-miR-4446-5p	CLIP-seq
MIRT2571845	hsa-miR-4453	CLIP-seq
MIRT2571846	hsa-miR-4456	CLIP-seq
MIRT2438614	hsa-miR-4458	CLIP-seq
MIRT2571847	hsa-miR-4468	CLIP-seq
MIRT2571848	hsa-miR-4471	CLIP-seq
MIRT2571849	hsa-miR-4476	CLIP-seq
MIRT2438615	hsa-miR-4500	CLIP-seq
MIRT2571850	hsa-miR-4505	CLIP-seq
MIRT1152850	hsa-miR-4510	CLIP-seq
MIRT2571851	hsa-miR-4512	CLIP-seq
MIRT2571852	hsa-miR-4513	CLIP-seq
MIRT1152851	hsa-miR-4516	CLIP-seq
MIRT2273153	hsa-miR-4517	CLIP-seq
MIRT2571853	hsa-miR-4520a-3p	CLIP-seq
MIRT2571854	hsa-miR-4520b-3p	CLIP-seq
MIRT2571855	hsa-miR-4538	CLIP-seq
MIRT2043723	hsa-miR-4638-5p	CLIP-seq
MIRT1152853	hsa-miR-4643	CLIP-seq
MIRT1152856	hsa-miR-466	CLIP-seq
MIRT2273155	hsa-miR-4662a-5p	CLIP-seq
MIRT2571856	hsa-miR-4668-5p	CLIP-seq
MIRT2273157	hsa-miR-4676-5p	CLIP-seq
MIRT1152857	hsa-miR-4678	CLIP-seq
MIRT2454263	hsa-miR-4684-5p	CLIP-seq
MIRT2571857	hsa-miR-4685-5p	CLIP-seq
MIRT1152858	hsa-miR-4694-5p	CLIP-seq
MIRT2571858	hsa-miR-4699-3p	CLIP-seq
MIRT1152859	hsa-miR-4701-5p	CLIP-seq
MIRT2571859	hsa-miR-4725-3p	CLIP-seq
MIRT1152860	hsa-miR-4726-3p	CLIP-seq
MIRT2273160	hsa-miR-4728-5p	CLIP-seq
MIRT1152862	hsa-miR-4755-3p	CLIP-seq
MIRT2571860	hsa-miR-4755-5p	CLIP-seq
MIRT2571861	hsa-miR-4757-5p	CLIP-seq
MIRT1152863	hsa-miR-4761-5p	CLIP-seq
MIRT2571862	hsa-miR-4762-3p	CLIP-seq
MIRT2571863	hsa-miR-4786-5p	CLIP-seq
MIRT1152865	hsa-miR-4789-3p	CLIP-seq
MIRT2571864	hsa-miR-4795-3p	CLIP-seq
MIRT2571865	hsa-miR-4797-3p	CLIP-seq
MIRT1152868	hsa-miR-486-5p	CLIP-seq
MIRT2571866	hsa-miR-497	CLIP-seq
MIRT2571867	hsa-miR-502-5p	CLIP-seq
MIRT1152873	hsa-miR-544b	CLIP-seq
MIRT2454265	hsa-miR-548c-3p	CLIP-seq
MIRT1152877	hsa-miR-548s	CLIP-seq
MIRT2273169	hsa-miR-575	CLIP-seq
MIRT2571868	hsa-miR-583	CLIP-seq
MIRT1152881	hsa-miR-588	CLIP-seq
MIRT2571869	hsa-miR-603	CLIP-seq
MIRT2043733	hsa-miR-607	CLIP-seq
MIRT2571870	hsa-miR-627	CLIP-seq
MIRT2571871	hsa-miR-651	CLIP-seq
MIRT2571872	hsa-miR-656	CLIP-seq
MIRT2571873	hsa-miR-661	CLIP-seq
MIRT2571874	hsa-miR-670	CLIP-seq
MIRT2273170	hsa-miR-7	CLIP-seq
MIRT2571875	hsa-miR-769-5p	CLIP-seq
MIRT2571876	hsa-miR-890	CLIP-seq
MIRT1152884	hsa-miR-9	CLIP-seq
MIRT2571877	hsa-miR-924	CLIP-seq
MIRT2438616	hsa-miR-98	CLIP-seq
MIRT2438605	hsa-let-7a	CLIP-seq
MIRT2438606	hsa-let-7b	CLIP-seq
MIRT2438607	hsa-let-7c	CLIP-seq
MIRT2438608	hsa-let-7d	CLIP-seq
MIRT2438609	hsa-let-7e	CLIP-seq
MIRT2438610	hsa-let-7f	CLIP-seq
MIRT2438611	hsa-let-7g	CLIP-seq
MIRT2438612	hsa-let-7i	CLIP-seq
MIRT1152820	hsa-miR-1253	CLIP-seq
MIRT2273137	hsa-miR-1272	CLIP-seq
MIRT2571814	hsa-miR-1292	CLIP-seq
MIRT2273140	hsa-miR-1322	CLIP-seq
MIRT2571815	hsa-miR-134	CLIP-seq
MIRT2273141	hsa-miR-142-3p	CLIP-seq
MIRT2571816	hsa-miR-15a	CLIP-seq
MIRT2571817	hsa-miR-15b	CLIP-seq
MIRT2571818	hsa-miR-16	CLIP-seq
MIRT2043705	hsa-miR-1910	CLIP-seq
MIRT1152823	hsa-miR-1915	CLIP-seq
MIRT2571819	hsa-miR-195	CLIP-seq
MIRT2438613	hsa-miR-202	CLIP-seq
MIRT2043708	hsa-miR-2114	CLIP-seq
MIRT2571823	hsa-miR-3118	CLIP-seq
MIRT2273143	hsa-miR-3122	CLIP-seq
MIRT1152826	hsa-miR-3126-5p	CLIP-seq
MIRT2043710	hsa-miR-3162-3p	CLIP-seq
MIRT2571828	hsa-miR-3164	CLIP-seq
MIRT1152829	hsa-miR-3173-5p	CLIP-seq
MIRT1152830	hsa-miR-3187-3p	CLIP-seq
MIRT2043711	hsa-miR-33a	CLIP-seq
MIRT2043712	hsa-miR-33b	CLIP-seq
MIRT2454261	hsa-miR-3613-3p	CLIP-seq
MIRT2454262	hsa-miR-3675-3p	CLIP-seq
MIRT2571834	hsa-miR-3676	CLIP-seq
MIRT2273146	hsa-miR-3689a-3p	CLIP-seq
MIRT2273147	hsa-miR-3689c	CLIP-seq
MIRT2273148	hsa-miR-3913-5p	CLIP-seq
MIRT2571835	hsa-miR-3918	CLIP-seq
MIRT1152836	hsa-miR-3926	CLIP-seq
MIRT2273149	hsa-miR-3934	CLIP-seq
MIRT2043718	hsa-miR-3944-5p	CLIP-seq
MIRT2571836	hsa-miR-409-5p	CLIP-seq
MIRT2571837	hsa-miR-424	CLIP-seq
MIRT1152838	hsa-miR-4255	CLIP-seq
MIRT2571839	hsa-miR-4264	CLIP-seq
MIRT2571841	hsa-miR-4272	CLIP-seq
MIRT2571842	hsa-miR-4302	CLIP-seq
MIRT1152841	hsa-miR-4419a	CLIP-seq
MIRT2273151	hsa-miR-4426	CLIP-seq
MIRT1152845	hsa-miR-4434	CLIP-seq
MIRT1152846	hsa-miR-4435	CLIP-seq
MIRT1152847	hsa-miR-4438	CLIP-seq
MIRT2571843	hsa-miR-4446-3p	CLIP-seq
MIRT2571845	hsa-miR-4453	CLIP-seq
MIRT2438614	hsa-miR-4458	CLIP-seq
MIRT2571847	hsa-miR-4468	CLIP-seq
MIRT2571848	hsa-miR-4471	CLIP-seq
MIRT2438615	hsa-miR-4500	CLIP-seq
MIRT2571850	hsa-miR-4505	CLIP-seq
MIRT1152850	hsa-miR-4510	CLIP-seq
MIRT2571851	hsa-miR-4512	CLIP-seq
MIRT2571852	hsa-miR-4513	CLIP-seq
MIRT1152851	hsa-miR-4516	CLIP-seq
MIRT2273153	hsa-miR-4517	CLIP-seq
MIRT2571853	hsa-miR-4520a-3p	CLIP-seq
MIRT2571854	hsa-miR-4520b-3p	CLIP-seq
MIRT2571855	hsa-miR-4538	CLIP-seq
MIRT1152853	hsa-miR-4643	CLIP-seq
MIRT2273154	hsa-miR-4647	CLIP-seq
MIRT1152856	hsa-miR-466	CLIP-seq
MIRT2273155	hsa-miR-4662a-5p	CLIP-seq
MIRT2273156	hsa-miR-4662b	CLIP-seq
MIRT2273157	hsa-miR-4676-5p	CLIP-seq
MIRT2454263	hsa-miR-4684-5p	CLIP-seq
MIRT2571857	hsa-miR-4685-5p	CLIP-seq
MIRT1152858	hsa-miR-4694-5p	CLIP-seq
MIRT1152859	hsa-miR-4701-5p	CLIP-seq
MIRT1152860	hsa-miR-4726-3p	CLIP-seq
MIRT2273160	hsa-miR-4728-5p	CLIP-seq
MIRT2571861	hsa-miR-4757-5p	CLIP-seq
MIRT1152863	hsa-miR-4761-5p	CLIP-seq
MIRT1152865	hsa-miR-4789-3p	CLIP-seq
MIRT2571865	hsa-miR-4797-3p	CLIP-seq
MIRT1152868	hsa-miR-486-5p	CLIP-seq
MIRT2571866	hsa-miR-497	CLIP-seq
MIRT1152873	hsa-miR-544b	CLIP-seq
MIRT2454265	hsa-miR-548c-3p	CLIP-seq
MIRT1152877	hsa-miR-548s	CLIP-seq
MIRT2273169	hsa-miR-575	CLIP-seq
MIRT1152881	hsa-miR-588	CLIP-seq
MIRT2571869	hsa-miR-603	CLIP-seq
MIRT2571876	hsa-miR-890	CLIP-seq
MIRT1152884	hsa-miR-9	CLIP-seq
MIRT2438616	hsa-miR-98	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
HCFC1	Unknown	24011988

Show/Hide all(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	23415655, 23825108, 25535791, 27771510, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23270877
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	23270877
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006749	Process	Glutathione metabolic process	IDA	19801555, 22642810
GO:0009235	Process	Cobalamin metabolic process	IBA
GO:0009235	Process	Cobalamin metabolic process	IDA	19700356, 22642810
GO:0009235	Process	Cobalamin metabolic process	IMP	23825108
GO:0009235	Process	Cobalamin metabolic process	TAS
GO:0016491	Function	Oxidoreductase activity	IDA	19801555, 21697092
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016765	Function	Transferase activity, transferring alkyl or aryl (other than methyl) groups	EXP	19801555, 21697092
GO:0031419	Function	Cobalamin binding	IEA
GO:0032451	Function	Demethylase activity	IBA
GO:0032451	Function	Demethylase activity	IDA	19801555
GO:0033787	Function	Cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity	IBA
GO:0033787	Function	Cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity	IDA	19700356
GO:0033787	Function	Cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity	IEA
GO:0033787	Function	Cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity	TAS
GO:0042803	Function	Protein homodimerization activity	IPI	22642810
GO:0043295	Function	Glutathione binding	IDA	22642810
GO:0070988	Process	Demethylation	IDA	19801555
GO:0071949	Function	FAD binding	IBA
GO:0071949	Function	FAD binding	IDA	19700356

MIM	HGNC	e!Ensembl
609831	24525	ENSG00000132763

Protein

UniProt ID

Q9Y4U1

Protein name

Cyanocobalamin reductase / alkylcobalamin dealkylase (Alkylcobalamin:glutathione S-alkyltransferase) (EC 2.5.1.151) (CblC) (Cyanocobalamin reductase (cyanide-eliminating)) (EC 1.16.1.6) (Methylmalonic aciduria and homocystinuria type C protein) (MMACHC)

Protein function

Cobalamin (vitamin B12) cytosolic chaperone that catalyzes the reductive decyanation of cyanocob(III)alamin (cyanocobalamin, CNCbl) to yield cob(II)alamin and cyanide, using FAD or FMN as cofactors and NADPH as cosubstrate (PubMed:18779575, PubM

PDB

3SBY , 3SBZ , 3SC0 , 3SOM , 5UOS , 7WUZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16690	MMACHC	20 → 234	Methylmalonic aciduria and homocystinuria type C family	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes. {ECO:0000269|PubMed:16311595}.

Sequence

MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFD
RALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTA
AHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPH
DCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPS
EKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP

Sequence length

282

Interactions

View interactions

	KEGG		Reactome
	Vitamin digestion and absorption Cobalamin transport and metabolism		Cobalamin (Cbl, vitamin B12) transport and metabolism Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Methylmalonic acidemia with homocystinuria	methylmalonic aciduria and homocystinuria, cblc type, digenic	rs398124292, rs1553162317	N/A
Hemolytic Uremic Syndrome	Atypical hemolytic-uremic syndrome	rs398124292	N/A
Methylmalonic Aciduria	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	rs121918241, rs121918243	N/A
retinal dystrophy	Retinal dystrophy	rs200094982	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
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.
Homocystinuria	methylmalonic aciduria and homocystinuria type cblC	N/A	N/A	GenCC

Show/Hide Text Mining Associations (41)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Kidney Injury	Associate	38178022
Aortic Dissection	Associate	38178022
Ataxia	Associate	33804237
Brain Diseases	Associate	32746869
Carcinoma Renal Cell	Associate	25230976
Cardiovascular Diseases	Associate	21497120, 40441036
Cognitive Dysfunction	Associate	35660814
Congenital Plasminogen Deficiency	Associate	37611544
Developmental Disabilities	Associate	32746869
Dyspnea	Associate	29581464
Failure to Thrive	Associate	21835369
Genetic Diseases Inborn	Associate	26464686, 35440018
Headache	Associate	40527782
Homocysteinemia	Associate	31574870
Homocystinuria	Associate	28481040, 30157807, 33804237, 39322052, 40441036
Hydrocephalus	Associate	32746869
Hyperhomocysteinemia	Associate	39322052
Hypersensitivity Delayed	Associate	29581464
Immunologic Deficiency Syndromes	Associate	36056359
Intellectual Disability	Associate	40441036
Macular Degeneration	Associate	40441036
Macular dystrophy concentric annular	Associate	25687216
Mental Disorders	Associate	25367534
Metabolic Diseases	Associate	35660814, 40441036
Metabolism Inborn Errors	Associate	33514801
Methylmalonic acidemia	Associate	30157807, 31574870, 33514801, 33804237, 35361390, 35660814, 38178022, 39523381, 39633313, 40441036, 40527782
Methylmalonic acidemia with homocystinuria	Associate	20219402, 21835369, 24011988, 25367534, 25687216, 26149271, 26464686, 28481040, 29302025, 30157807, 31092259, 31574870, 32746869, 33804237, 33982424 View all (6 more)
Methylmalonic acidemia with homocystinuria	Inhibit	25367534, 34854955, 37611544
Methylmalonic Aciduria and Homocystinuria CblD Type	Associate	21835369, 25687216, 26464686
Methylmalonic Aciduria and Homocystinuria CblF Type	Associate	21497120, 25687216, 31905202, 35709987, 37264743, 38178022
Methylmalonic Aciduria due to Methylmalonyl CoA Mutase Deficiency	Associate	35660814
Mowat Wilson syndrome	Associate	35709987
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	21497120
Neurologic Manifestations	Associate	32746869
Paraplegia	Associate	36056359
Pelizaeus Merzbacher like disease autosomal recessive 2	Associate	33804237
Psychotic Disorders	Associate	36056359
Seizures	Associate	32746869
Short chain Acyl CoA dehydrogenase deficiency	Associate	36787440
Subacute Combined Degeneration	Associate	31574870
Thrombosis	Associate	39322052

MMACHC (metabolism of cobalamin associated C)