LOCUS       NP_598600                296 aa            linear   ROD 05-JUN-2024
DEFINITION  cobalamin trafficking protein CblD isoform 1 [Mus musculus].
ACCESSION   NP_598600
VERSION     NP_598600.1
DBSOURCE    REFSEQ: accession NM_133839.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 296)
  AUTHORS   Imbard,A., Schwendimann,L., Lebon,S., Gressens,P., Blom,H.J. and
            Benoist,J.F.
  TITLE     Liver and brain differential expression of one-carbon metabolism
            genes during ontogenesis
  JOURNAL   Sci Rep 11 (1), 21132 (2021)
   PUBMED   34702858
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 296)
  AUTHORS   Li,Z., Mascarenhas,R., Twahir,U.T., Kallon,A., Deb,A., Yaw,M.,
            Penner-Hahn,J., Koutmos,M., Warncke,K. and Banerjee,R.
  TITLE     An Interprotein Co-S Coordination Complex in the B12-Trafficking
            Pathway
  JOURNAL   J Am Chem Soc 142 (38), 16334-16345 (2020)
   PUBMED   32871076
REFERENCE   3  (residues 1 to 296)
  AUTHORS   Tian,C. and Johnson,K.R.
  TITLE     TBX1 is required for normal stria vascularis and semicircular canal
            development
  JOURNAL   Dev Biol 457 (1), 91-103 (2020)
   PUBMED   31550482
REFERENCE   4  (residues 1 to 296)
  AUTHORS   Kole,C., Berdugo,N., Da Silva,C., Ait-Ali,N., Millet-Puel,G.,
            Pagan,D., Blond,F., Poidevin,L., Ripp,R., Fontaine,V., Wincker,P.,
            Zack,D.J., Sahel,J.A., Poch,O. and Leveillard,T.
  TITLE     Identification of an Alternative Splicing Product of the Otx2 Gene
            Expressed in the Neural Retina and Retinal Pigmented Epithelial
            Cells
  JOURNAL   PLoS One 11 (3), e0150758 (2016)
   PUBMED   26985665
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 296)
  AUTHORS   Mah,W., Deme,J.C., Watkins,D., Fung,S., Janer,A., Shoubridge,E.A.,
            Rosenblatt,D.S. and Coulton,J.W.
  TITLE     Subcellular location of MMACHC and MMADHC, two human proteins
            central to intracellular vitamin B(12) metabolism
  JOURNAL   Mol Genet Metab 108 (2), 112-118 (2013)
   PUBMED   23270877
REFERENCE   6  (residues 1 to 296)
  AUTHORS   Stucki,M., Coelho,D., Suormala,T., Burda,P., Fowler,B. and
            Baumgartner,M.R.
  TITLE     Molecular mechanisms leading to three different phenotypes in the
            cblD defect of intracellular cobalamin metabolism
  JOURNAL   Hum Mol Genet 21 (6), 1410-1418 (2012)
   PUBMED   22156578
REFERENCE   7  (residues 1 to 296)
  AUTHORS   Pupavac,M., Garcia,M.A., Rosenblatt,D.S. and Jerome-Majewska,L.A.
  TITLE     Expression of Mmachc and Mmadhc during mouse organogenesis
  JOURNAL   Mol Genet Metab 103 (4), 401-405 (2011)
   PUBMED   21536470
  REMARK    GeneRIF: During organogenesis Mmachc and Mmadhc may interact in
            only a subset of cells.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY135511.1, FO712453.1, BM946822.1 and CJ311197.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMN00849380,
                              SAMN00849381 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..296
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 28.92 cM"
     Protein         1..296
                     /product="cobalamin trafficking protein CblD isoform 1"
                     /note="methylmalonic aciduria and homocystinuria type D
                     homolog, mitochondrial; cobalamin trafficking protein
                     CblD"
                     /calculated_mol_wt=28933
     transit_peptide 1..38
                     /note="Mitochondrion. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (Q99LS1.1)"
                     /calculated_mol_wt=4080
     Region          24..293
                     /region_name="MMADHC"
                     /note="Methylmalonic aciduria and homocystinuria type D
                     protein; pfam10229"
                     /db_xref="CDD:431154"
     mat_peptide     39..296
                     /product="Cobalamin trafficking protein CblD.
                     /id=PRO_0000019535"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99LS1.1)"
                     /calculated_mol_wt=28933
     Site            203
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9H3L0; propagated from
                     UniProtKB/Swiss-Prot (Q99LS1.1)"
     CDS             1..296
                     /gene="Mmadhc"
                     /gene_synonym="2010311D03Rik; CblD"
                     /coded_by="NM_133839.3:209..1099"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS16027.1"
                     /db_xref="GeneID:109129"
                     /db_xref="MGI:MGI:1923786"
ORIGIN      
        1 mahvlcnrar lvsylpgfcs lvkrvinpra fstagssgsd eshvatappd icsrtvwpde
       61 tmgpfgpqdq rfqlpgnigf dchlngtasq kksqahktlp dvlaeplste rhefvmaqyv
      121 nefqdsdapv eqeinsaety fesakvecai qtcpellrrd feslfpevan sklmiltvtq
      181 ktendmtvws eeveverevl lekfisgake icyalraegy wadfidpssg vaffgpytnn
      241 tlfetderyr hlgfsvddlg cckvirhslw gthvvvgsif tnatadssim rklsgn
//
