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Details on Person UniProt:Q9H3L0 MMADHC
| Class:Id | ReferenceGeneProduct:221413 |
|---|---|
| _chainChangeLog | transit peptide:1-38 added on Fri February 6 2015;chain:39-296 added on Fri February 6 2015 |
| _displayName | UniProt:Q9H3L0 MMADHC |
| _timestamp | 2025-02-21 20:01:11 |
| chain | transit peptide:1-38 chain:39-296 |
| checksum | 749C2A91D7E6C95D |
| comment | FUNCTION Involved in cobalamin metabolism and trafficking (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl) (PubMed:18385497, PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851). The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR (methionine synthase) which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine (PubMed:27771510).SUBUNIT Heterodimer with MMACHC. Forms a multiprotein complex with MMACHC, MTR and MTRR (PubMed:27771510).INTERACTION Widely expressed at high levels.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: fullName evidence="12"Cobalamin trafficking protein CblD alternativeName: fullName evidence="10 11 12"CblD alternativeName: Methylmalonic aciduria and homocystinuria type D protein, mitochondrial |
| geneName | MMADHC C2orf25 CL25022 HSPC161 My011 |
| identifier | Q9H3L0 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Cytoplasm Disease variant Mitochondrion Proteomics identification Reference proteome Transit peptide |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | MMADHC |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8989073] ENSEMBL:ENSG00000168288 MMADHC [Homo sapiens] |
| secondaryIdentifier | MMAD_HUMAN B2R895 D3DP91 O95891 |
| sequenceLength | 296 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:2980985] MMADHC [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:3149529] MMADHC [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:3318573] MMADHC S20* [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:3318584] MMADHC Y249C [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:3318587] MMADHC L259P [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:3318599] MMADHC T182N [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:3318608] MMADHC R250* [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:3318620] MMADHC R54* [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:3318633] MMADHC Y140* [cytosol] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:3318564] L-threonine 182 replaced with L-asparagine [ReplacedResidue:3318578] L-tyrosine 249 replaced with L-cysteine [NonsenseMutation:3318589] Nonsense mutation at L-serine 20 [NonsenseMutation:3318594] Nonsense mutation at L-arginine 250 [ReplacedResidue:3318595] L-leucine 259 replaced with L-proline [NonsenseMutation:3318626] Nonsense mutation at L-tyrosine 140 [NonsenseMutation:3318629] Nonsense mutation at L-arginine 54 |
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No pathways have been reviewed or authored by UniProt:Q9H3L0 MMADHC (221413)
