MMAD_MOUSE
ID MMAD_MOUSE Reviewed; 296 AA.
AC Q99LS1;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Cobalamin trafficking protein CblD;
DE AltName: Full=CblD {ECO:0000250|UniProtKB:Q9H3L0};
DE AltName: Full=Methylmalonic aciduria and homocystinuria type D homolog, mitochondrial;
DE Flags: Precursor;
GN Name=Mmadhc {ECO:0000312|MGI:MGI:1923786};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=Czech II; TISSUE=Mammary tumor;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [2] {ECO:0007744|PDB:5A4R}
RP X-RAY CRYSTALLOGRAPHY (2.25 ANGSTROMS) OF 129-296.
RX PubMed=26483544; DOI=10.1074/jbc.m115.683268;
RA Froese D.S., Kopec J., Fitzpatrick F., Schuller M., McCorvie T.J.,
RA Chalk R., Plessl T., Fettelschoss V., Fowler B., Baumgartner M.R.,
RA Yue W.W.;
RT "Structural insights into the MMACHC-MMADHC protein complex involved in
RT vitamin B12 trafficking.";
RL J. Biol. Chem. 290:29167-29177(2015).
CC -!- FUNCTION: Involved in cobalamin metabolism and trafficking. Plays a
CC role in regulating the biosynthesis and the proportion of two
CC coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin
CC (AdoCbl). Promotes oxidation of cob(II)alamin bound to MMACHC. The
CC processing of cobalamin in the cytosol occurs in a multiprotein complex
CC composed of at least MMACHC, MMADHC, MTRR (methionine synthase
CC reductase) and MTR (methionine synthase) which may contribute to
CC shuttle safely and efficiently cobalamin towards MTR in order to
CC produce methionine. {ECO:0000250|UniProtKB:Q9H3L0}.
CC -!- SUBUNIT: Heterodimer with MMACHC. Forms a multiprotein complex with
CC MMACHC, MTR and MTRR. {ECO:0000250|UniProtKB:Q9H3L0}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9H3L0}.
CC Mitochondrion {ECO:0000250|UniProtKB:Q9H3L0}.
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DR EMBL; BC002253; AAH02253.1; -; mRNA.
DR CCDS; CCDS16027.1; -.
DR RefSeq; NP_598600.1; NM_133839.3.
DR RefSeq; XP_006497661.1; XM_006497598.1.
DR PDB; 5A4R; X-ray; 2.25 A; A=129-296.
DR PDBsum; 5A4R; -.
DR AlphaFoldDB; Q99LS1; -.
DR SMR; Q99LS1; -.
DR BioGRID; 224566; 1.
DR CORUM; Q99LS1; -.
DR IntAct; Q99LS1; 1.
DR STRING; 10090.ENSMUSP00000099830; -.
DR iPTMnet; Q99LS1; -.
DR PhosphoSitePlus; Q99LS1; -.
DR EPD; Q99LS1; -.
DR MaxQB; Q99LS1; -.
DR PaxDb; Q99LS1; -.
DR PRIDE; Q99LS1; -.
DR ProteomicsDB; 295960; -.
DR Antibodypedia; 33644; 218 antibodies from 21 providers.
DR Ensembl; ENSMUST00000102769; ENSMUSP00000099830; ENSMUSG00000026766.
DR GeneID; 109129; -.
DR KEGG; mmu:109129; -.
DR UCSC; uc008jqc.1; mouse.
DR CTD; 27249; -.
DR MGI; MGI:1923786; Mmadhc.
DR VEuPathDB; HostDB:ENSMUSG00000026766; -.
DR eggNOG; KOG3994; Eukaryota.
DR GeneTree; ENSGT00390000015050; -.
DR HOGENOM; CLU_066240_0_0_1; -.
DR InParanoid; Q99LS1; -.
DR OMA; IWPDETM; -.
DR OrthoDB; 1363001at2759; -.
DR PhylomeDB; Q99LS1; -.
DR TreeFam; TF314208; -.
DR Reactome; R-MMU-9759218; Cobalamin (Cbl) metabolism.
DR BioGRID-ORCS; 109129; 13 hits in 71 CRISPR screens.
DR ChiTaRS; Mmadhc; mouse.
DR PRO; PR:Q99LS1; -.
DR Proteomes; UP000000589; Chromosome 2.
DR RNAct; Q99LS1; protein.
DR Bgee; ENSMUSG00000026766; Expressed in interventricular septum and 258 other tissues.
DR ExpressionAtlas; Q99LS1; baseline and differential.
DR Genevisible; Q99LS1; MM.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0005739; C:mitochondrion; ISS:UniProtKB.
DR GO; GO:0009235; P:cobalamin metabolic process; ISS:UniProtKB.
DR InterPro; IPR019362; MMADHC.
DR PANTHER; PTHR13192; PTHR13192; 1.
DR Pfam; PF10229; MMADHC; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Cytoplasm; Mitochondrion; Reference proteome;
KW Transit peptide.
FT TRANSIT 1..38
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 39..296
FT /note="Cobalamin trafficking protein CblD"
FT /id="PRO_0000019535"
FT MOD_RES 203
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q9H3L0"
FT HELIX 137..140
FT /evidence="ECO:0007829|PDB:5A4R"
FT STRAND 145..152
FT /evidence="ECO:0007829|PDB:5A4R"
FT STRAND 174..181
FT /evidence="ECO:0007829|PDB:5A4R"
FT HELIX 191..216
FT /evidence="ECO:0007829|PDB:5A4R"
FT TURN 217..219
FT /evidence="ECO:0007829|PDB:5A4R"
FT STRAND 222..225
FT /evidence="ECO:0007829|PDB:5A4R"
FT STRAND 227..229
FT /evidence="ECO:0007829|PDB:5A4R"
FT STRAND 231..234
FT /evidence="ECO:0007829|PDB:5A4R"
FT HELIX 248..252
FT /evidence="ECO:0007829|PDB:5A4R"
FT STRAND 255..258
FT /evidence="ECO:0007829|PDB:5A4R"
FT STRAND 263..267
FT /evidence="ECO:0007829|PDB:5A4R"
FT TURN 268..270
FT /evidence="ECO:0007829|PDB:5A4R"
FT STRAND 274..282
FT /evidence="ECO:0007829|PDB:5A4R"
FT HELIX 288..293
FT /evidence="ECO:0007829|PDB:5A4R"
SQ SEQUENCE 296 AA; 32995 MW; 1E10849FD00CA21C CRC64;
MAHVLCNRAR LVSYLPGFCS LVKRVINPRA FSTAGSSGSD ESHVATAPPD ICSRTVWPDE
TMGPFGPQDQ RFQLPGNIGF DCHLNGTASQ KKSQAHKTLP DVLAEPLSTE RHEFVMAQYV
NEFQDSDAPV EQEINSAETY FESAKVECAI QTCPELLRRD FESLFPEVAN SKLMILTVTQ
KTENDMTVWS EEVEVEREVL LEKFISGAKE ICYALRAEGY WADFIDPSSG VAFFGPYTNN
TLFETDERYR HLGFSVDDLG CCKVIRHSLW GTHVVVGSIF TNATADSSIM RKLSGN
