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    MMADHC metabolism of cobalamin associated D [ Homo sapiens (human) ]

    Gene ID: 27249, updated on 27-Nov-2024

    Summary

    Official Symbol
    MMADHCprovided by HGNC
    Official Full Name
    metabolism of cobalamin associated Dprovided by HGNC
    Primary source
    HGNC:HGNC:25221
    See related
    Ensembl:ENSG00000168288 MIM:611935; AllianceGenome:HGNC:25221
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HMAD; MACD; cblD; MAHCD; C2orf25; CL25022
    Summary
    This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 49.1), esophagus (RPKM 43.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MMADHC in Genome Data Viewer
    Location:
    2q23.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (149569637..149587775, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (150020083..150038221, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (150426151..150444289, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906190 Neighboring gene LY6/PLAUR domain containing 6 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:150274403-150274924 Neighboring gene NANOG hESC enhancer GRCh37_chr2:150306659-150307199 Neighboring gene ribosomal protein L17 pseudogene 13 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:150363112-150363636 Neighboring gene Sharpr-MPRA regulatory region 14986 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:150443500-150444699 Neighboring gene MMADHC divergent transcript Neighboring gene RNA, U6 small nuclear 601, pseudogene Neighboring gene uncharacterized LOC105373680

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (MMADHC; C2orf25) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cobalamin metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cobalamin metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    cobalamin trafficking protein CblD
    Names
    methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
    methylmalonic aciduria and homocystinuria type D protein, mitochondrial
    protein C2orf25, mitochondrial

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009189.1 RefSeqGene

      Range
      5042..23180
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015702.3NP_056517.1  cobalamin trafficking protein CblD

      See identical proteins and their annotated locations for NP_056517.1

      Status: REVIEWED

      Source sequence(s)
      BC000932, BG610637, BM456421, BU570084
      Consensus CDS
      CCDS2189.1
      UniProtKB/Swiss-Prot
      B2R895, D3DP91, O95891, Q9H3L0
      UniProtKB/TrEMBL
      F8WEC0
      Related
      ENSP00000301920.5, ENST00000303319.10
      Conserved Domains (1) summary
      pfam10229
      Location:24293
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      149569637..149587775 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      150020083..150038221 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)