UniProt:Q9H3L0 MMADHC

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.
databaseName UniProt
dbId 221413
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
displayName UniProt:Q9H3L0 MMADHC
geneName
  • MMADHC
  • C2orf25
  • CL25022
  • HSPC161
  • My011
identifier Q9H3L0
isSequenceChanged false
keyword
  • 3D-structure
  • Acetylation
  • Cytoplasm
  • Disease variant
  • Mitochondrion
  • Proteomics identification
  • Reference proteome
  • Transit peptide
moleculeType Protein
name
  • MMADHC
otherIdentifier
  • 11722207_a_at
  • 16903461
  • 217883_PM_at
  • 217883_at
  • 2580643
  • 2580644
  • 2580645
  • 2580646
  • 2580648
  • 2580652
  • 2580653
  • 2580654
  • 2580655
  • 2580657
  • 2580658
  • 2580662
  • 2580663
  • 2580664
  • 2580665
  • 2580666
  • 2580667
  • 27249
  • 3369042
  • 65896_at
  • 8055672
  • A_23_P94932
  • GE61183
  • GO:0005515
  • GO:0005737
  • GO:0005739
  • GO:0005829
  • GO:0009235
  • GO:0140104
  • HMNXSV003053836
  • ILMN_1810759
  • ILMN_2090558
  • PH_hs_0000545
  • TC02002415.hg
  • g7661547_3p_at
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • MMAD_HUMAN
  • B2R895
  • D3DP91
  • O95891
sequenceLength 296
stId uniprot:Q9H3L0

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