Property Summary

NCBI Gene PubMed Count 21
PubMed Score 25.92
PubTator Score 18.15

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
Multiple myeloma 1.540 2.5e-03
psoriasis 2.000 5.0e-05
pancreatic ductal adenocarcinoma liver m... -1.574 4.5e-02
ovarian cancer 2.400 1.2e-03

Protein-protein Interaction (1)

Gene RIF (11)

PMID Text
26483544 the MMACHC-MMADHC complex is a 1:1 heterodimer, where the interaction region overlaps with the MMACHC-Cbl binding site
26364851 analysis of crystal structure of the globular C-terminal domain of human CblD, which is sufficient for its interaction with MMADHC or CblC, and for supporting the cytoplasmic cobalamin trafficking pathway
24722857 specific regions of MMADHC are involved in differential regulation of adenosylcobalamin and methylcobalamin synthesis
23270877 Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.
22832074 The function of MMADHC is exerted through its structured C-terminal domain via interactions with MMACHC.
22156578 MMADHC mutations are associated with methylmalonic aciduria and homocystinuria.
21071249 MMADHC was confirmed as a binding partner for MMACHC both in vitro (SPR) and in vivo (bacterial two-hybrid system).
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
18385497 mutations in a gene designated MMADHC (currently named C2orf25) are responsible for the cblD defect in vitamin B12 metabolism; various mutations are associated with each of the three biochemical phenotypes of the disorder
18187620 Knockdown of methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (MMADHC; C2orf25) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells

AA Sequence

MANVLCNRARLVSYLPGFCSLVKRVVNPKAFSTAGSSGSDESHVAAAPPDICSRTVWPDETMGPFGPQDQ      1 - 70
RFQLPGNIGFDCHLNGTASQKKSLVHKTLPDVLAEPLSSERHEFVMAQYVNEFQGNDAPVEQEINSAETY     71 - 140
FESARVECAIQTCPELLRKDFESLFPEVANGKLMILTVTQKTKNDMTVWSEEVEIEREVLLEKFINGAKE    141 - 210
ICYALRAEGYWADFIDPSSGLAFFGPYTNNTLFETDERYRHLGFSVDDLGCCKVIRHSLWGTHVVVGSIF    211 - 280
TNATPDSHIMKKLSGN                                                          281 - 296
//

Text Mined References (20)

PMID Year Title
26483544 2015 Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.
26364851 2015 Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.
24722857 2014 Characterization of functional domains of the cblD (MMADHC) gene product.
24124411 2013 Genome-wide association study of liver enzymes in korean children.
23415655 2013 The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning.
23270877 2013 Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.
22832074 2012 Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism.
22156578 2012 Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.
21071249 2011 Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B?? metabolism.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
18385497 2008 Gene identification for the cblD defect of vitamin B12 metabolism.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11042152 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.
9110174 1997 Large-scale concatenation cDNA sequencing.
8619474 1996 A "double adaptor" method for improved shotgun library construction.