Details for: MMADHC

Gene ID: 27249

Symbol: MMADHC

Ensembl ID: ENSG00000168288

Description: metabolism of cobalamin associated D

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 186.9553
    Cell Significance Index: -29.0800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 120.6024
    Cell Significance Index: -30.5900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 119.0443
    Cell Significance Index: -49.0400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 104.3428
    Cell Significance Index: -42.3900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 103.8078
    Cell Significance Index: -49.0100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 94.3942
    Cell Significance Index: -48.5600
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 73.0080
    Cell Significance Index: -48.9900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 44.6193
    Cell Significance Index: -42.6000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 33.0993
    Cell Significance Index: -40.8100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 14.8048
    Cell Significance Index: -39.6600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 11.9715
    Cell Significance Index: -47.2400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.4674
    Cell Significance Index: -32.1500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.0182
    Cell Significance Index: -15.3600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 2.1822
    Cell Significance Index: 64.0900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.9883
    Cell Significance Index: 54.1200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.7199
    Cell Significance Index: 36.0000
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 1.6905
    Cell Significance Index: 14.2000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.6097
    Cell Significance Index: 189.8300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.5786
    Cell Significance Index: 41.5100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 1.5021
    Cell Significance Index: 16.3300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.4501
    Cell Significance Index: 67.6100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.3857
    Cell Significance Index: 756.7600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.1917
    Cell Significance Index: 82.4200
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.1873
    Cell Significance Index: 9.4800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.1669
    Cell Significance Index: 143.4800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.0805
    Cell Significance Index: 76.4200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.0626
    Cell Significance Index: 191.5500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.0599
    Cell Significance Index: 145.5600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.0122
    Cell Significance Index: 52.5800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.9774
    Cell Significance Index: 432.1400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.8898
    Cell Significance Index: 30.9200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.8894
    Cell Significance Index: 41.8000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.8259
    Cell Significance Index: 106.7000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.8241
    Cell Significance Index: 61.4200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.7992
    Cell Significance Index: 7.3600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.7560
    Cell Significance Index: 96.9100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.7136
    Cell Significance Index: 46.0400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6947
    Cell Significance Index: 68.7200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6572
    Cell Significance Index: 106.9000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6272
    Cell Significance Index: 124.4800
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.5751
    Cell Significance Index: 7.3700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.5378
    Cell Significance Index: 14.3600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4223
    Cell Significance Index: 84.7200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4177
    Cell Significance Index: 9.0500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3951
    Cell Significance Index: 356.7200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.3896
    Cell Significance Index: 66.5200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.3105
    Cell Significance Index: 8.9000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2829
    Cell Significance Index: 53.8400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.2116
    Cell Significance Index: 5.6600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1854
    Cell Significance Index: 66.4900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1707
    Cell Significance Index: 8.9600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1052
    Cell Significance Index: 2.8200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.0660
    Cell Significance Index: 0.7500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0640
    Cell Significance Index: 2.0500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0418
    Cell Significance Index: 0.7000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0300
    Cell Significance Index: 22.6800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0224
    Cell Significance Index: 30.4300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0033
    Cell Significance Index: -2.3900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0042
    Cell Significance Index: -3.0800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0063
    Cell Significance Index: -11.7700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0079
    Cell Significance Index: -14.5700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0112
    Cell Significance Index: -17.1900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0114
    Cell Significance Index: -0.4000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0161
    Cell Significance Index: -1.6400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0239
    Cell Significance Index: -15.1700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0246
    Cell Significance Index: -15.3800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0398
    Cell Significance Index: -2.5100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0433
    Cell Significance Index: -24.4400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0544
    Cell Significance Index: -1.3900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0588
    Cell Significance Index: -26.6700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0601
    Cell Significance Index: -0.4900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0881
    Cell Significance Index: -18.5500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1093
    Cell Significance Index: -12.5200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1194
    Cell Significance Index: -5.4100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1266
    Cell Significance Index: -36.4400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1346
    Cell Significance Index: -7.0100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1914
    Cell Significance Index: -14.6900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2005
    Cell Significance Index: -29.1400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2089
    Cell Significance Index: -24.3500
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2381
    Cell Significance Index: -5.5000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2412
    Cell Significance Index: -27.5400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2704
    Cell Significance Index: -16.6200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.3016
    Cell Significance Index: -8.4300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3338
    Cell Significance Index: -18.7300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.3459
    Cell Significance Index: -4.7200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3505
    Cell Significance Index: -9.0100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4376
    Cell Significance Index: -34.6600
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.4386
    Cell Significance Index: -2.6500
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.4394
    Cell Significance Index: -7.7600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4478
    Cell Significance Index: -46.6300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.4564
    Cell Significance Index: -30.6900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.4815
    Cell Significance Index: -8.9000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.5365
    Cell Significance Index: -13.4100
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.5406
    Cell Significance Index: -8.1000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.6472
    Cell Significance Index: -7.7200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6762
    Cell Significance Index: -41.4600
  • Cell Name: theca cell (CL0000503)
    Fold Change: -0.7472
    Cell Significance Index: -4.3900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.7834
    Cell Significance Index: -8.1100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.7873
    Cell Significance Index: -19.2100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.8593
    Cell Significance Index: -18.3000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** The MMADHC gene is a mitochondrial gene that encodes a protein involved in the metabolism of cobalamin. The protein is localized to the mitochondrial matrix and is essential for the proper functioning of the cobalamin-dependent enzymes. The MMADHC protein is also involved in the regulation of the expression of other genes involved in cobalamin metabolism. **Pathways and Functions:** The MMADHC gene is involved in the following pathways: 1. **Cobalamin (cbl) metabolism:** The MMADHC protein is essential for the metabolism of cobalamin, which is a crucial vitamin for various cellular processes, including DNA synthesis and repair. 2. **Cobalamin (cbl, vitamin B12) transport and metabolism:** The MMADHC protein is involved in the transport and metabolism of cobalamin from the bloodstream to the tissues. 3. **Cobalamin metabolic process:** The MMADHC protein is involved in the metabolism of cobalamin-dependent enzymes, which are essential for the breakdown of fatty acids and amino acids. 4. **Cytoplasmic and cytosolic functions:** The MMADHC protein is also involved in the regulation of the expression of other genes involved in cobalamin metabolism in the cytoplasm and cytosol. **Clinical Significance:** Defects in the MMADHC gene have been linked to various metabolic disorders, including: 1. **Methylmalonic aciduria and homocystinuria type D:** This is a rare genetic disorder characterized by the accumulation of methylmalonic acid and homocysteine in the blood and urine. 2. **Cobalamin-dependent disorders:** Defects in the MMADHC gene can also lead to cobalamin-dependent disorders, such as megaloblastic anemia and neurological disorders. 3. **Other metabolic disorders:** The MMADHC gene has also been implicated in other metabolic disorders, including diabetes and cardiovascular disease. In conclusion, the MMADHC gene plays a crucial role in the metabolism of cobalamin and is essential for the proper functioning of the cobalamin-dependent enzymes. Defects in the MMADHC gene have been linked to various metabolic disorders, highlighting the importance of this gene in human health. Further research is needed to fully understand the mechanisms of cobalamin metabolism and the role of the MMADHC gene in human disease.

Genular Protein ID: 110324933

Symbol: MMAD_HUMAN

Name: Methylmalonic aciduria and homocystinuria type D protein, mitochondrial

UniProtKB Accession Codes:

Q9H3L0 B2R895 D3DP91 O95891

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 13 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11042152

Title: Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.

PubMed ID: 11042152

DOI: 10.1101/gr.140200

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18385497

Title: Gene identification for the cblD defect of vitamin B12 metabolism.

PubMed ID: 18385497

DOI: 10.1056/nejmoa072200

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21071249

Title: Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B(1)(2) metabolism.

PubMed ID: 21071249

DOI: 10.1016/j.ymgme.2010.10.011

PubMed ID: 23415655

Title: The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning.

PubMed ID: 23415655

DOI: 10.1016/j.biochi.2013.02.003

PubMed ID: 23270877

Title: Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.

PubMed ID: 23270877

DOI: 10.1016/j.ymgme.2012.11.284

PubMed ID: 24722857

Title: Characterization of functional domains of the cblD (MMADHC) gene product.

PubMed ID: 24722857

DOI: 10.1007/s10545-014-9709-4

PubMed ID: 26483544

Title: Structural insights into the MMACHC-MMADHC protein complex involved in vitamin B12 trafficking.

PubMed ID: 26483544

DOI: 10.1074/jbc.m115.683268

PubMed ID: 27771510

Title: Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC.

PubMed ID: 27771510

DOI: 10.1016/j.bbadis.2016.10.016

PubMed ID: 26364851

Title: Structure of human B12 trafficking protein CblD reveals molecular mimicry and identifies a new subfamily of nitro-FMN reductases.

PubMed ID: 26364851

DOI: 10.1074/jbc.m115.682435

Sequence Information:

  • Length: 296
  • Mass: 32940
  • Checksum: 749C2A91D7E6C95D
  • Sequence:
    • MANVLCNRAR LVSYLPGFCS LVKRVVNPKA FSTAGSSGSD ESHVAAAPPD ICSRTVWPDE 
TMGPFGPQDQ RFQLPGNIGF DCHLNGTASQ KKSLVHKTLP DVLAEPLSSE RHEFVMAQYV 
NEFQGNDAPV EQEINSAETY FESARVECAI QTCPELLRKD FESLFPEVAN GKLMILTVTQ 
KTKNDMTVWS EEVEIEREVL LEKFINGAKE ICYALRAEGY WADFIDPSSG LAFFGPYTNN 
TLFETDERYR HLGFSVDDLG CCKVIRHSLW GTHVVVGSIF TNATPDSHIM KKLSGN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.