Details for: MSMO1

Gene ID: 6307

Symbol: MSMO1

Ensembl ID: ENSG00000052802

Description: methylsterol monooxygenase 1

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: 243.1447
    Cell Significance Index: -37.8200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 149.1267
    Cell Significance Index: -37.8300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 90.9096
    Cell Significance Index: -37.4500
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 61.3691
    Cell Significance Index: -41.1800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 30.9257
    Cell Significance Index: -38.1300
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 17.8696
    Cell Significance Index: 23.1200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 13.3154
    Cell Significance Index: -35.6700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 10.3559
    Cell Significance Index: 277.4900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 9.8440
    Cell Significance Index: -38.8500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 8.0027
    Cell Significance Index: -24.5800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.4001
    Cell Significance Index: -9.6300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 3.8165
    Cell Significance Index: 35.1500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.8053
    Cell Significance Index: 147.2900
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.5538
    Cell Significance Index: 31.6800
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 2.1636
    Cell Significance Index: 36.3900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.0086
    Cell Significance Index: 104.3400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.8999
    Cell Significance Index: 377.0400
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.8622
    Cell Significance Index: 9.2900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.7674
    Cell Significance Index: 1595.7900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.4342
    Cell Significance Index: 30.0200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.4280
    Cell Significance Index: 37.5500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.2983
    Cell Significance Index: 38.1300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.2554
    Cell Significance Index: 226.3100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.2092
    Cell Significance Index: 131.5200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.1168
    Cell Significance Index: 609.8900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.0709
    Cell Significance Index: 79.8100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.0232
    Cell Significance Index: 125.8100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.0131
    Cell Significance Index: 45.9200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9373
    Cell Significance Index: 152.4400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.9021
    Cell Significance Index: 180.9700
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.8887
    Cell Significance Index: 6.8500
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.8727
    Cell Significance Index: 14.7000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.8309
    Cell Significance Index: 23.9400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.7680
    Cell Significance Index: 36.1000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.7665
    Cell Significance Index: 99.0300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5257
    Cell Significance Index: 11.3900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.5243
    Cell Significance Index: 14.0000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.4966
    Cell Significance Index: 35.1200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.4874
    Cell Significance Index: 6.6500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4435
    Cell Significance Index: 196.0900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4033
    Cell Significance Index: 144.6600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.4002
    Cell Significance Index: 24.6000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.3853
    Cell Significance Index: 13.3900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3047
    Cell Significance Index: 30.1400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2940
    Cell Significance Index: 20.3400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.2913
    Cell Significance Index: 220.5000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2664
    Cell Significance Index: 14.9500
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.1952
    Cell Significance Index: 4.5100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1718
    Cell Significance Index: 10.8300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1567
    Cell Significance Index: 4.2700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1456
    Cell Significance Index: 4.0700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1247
    Cell Significance Index: 23.7400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1246
    Cell Significance Index: 17.1100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.1217
    Cell Significance Index: 3.4900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1180
    Cell Significance Index: 4.1500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1065
    Cell Significance Index: 1.2700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1044
    Cell Significance Index: 72.2400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0753
    Cell Significance Index: 102.3800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0749
    Cell Significance Index: 1.1100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0582
    Cell Significance Index: 109.6100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0497
    Cell Significance Index: 76.4400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0373
    Cell Significance Index: 6.3800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0131
    Cell Significance Index: 24.1800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0042
    Cell Significance Index: 0.0900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0039
    Cell Significance Index: -2.8900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0068
    Cell Significance Index: -4.2200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0136
    Cell Significance Index: -8.6700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0147
    Cell Significance Index: -1.8800
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.0154
    Cell Significance Index: -0.1600
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.0159
    Cell Significance Index: -0.1000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0250
    Cell Significance Index: -18.3200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0290
    Cell Significance Index: -0.9300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0405
    Cell Significance Index: -22.8400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0531
    Cell Significance Index: -2.4800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0569
    Cell Significance Index: -25.8400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0750
    Cell Significance Index: -15.7900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0802
    Cell Significance Index: -8.1900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0850
    Cell Significance Index: -9.7400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0865
    Cell Significance Index: -24.8800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0943
    Cell Significance Index: -11.1200
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.1240
    Cell Significance Index: -0.9900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1263
    Cell Significance Index: -18.3600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1313
    Cell Significance Index: -2.2500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1633
    Cell Significance Index: -10.9800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1646
    Cell Significance Index: -2.7600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1715
    Cell Significance Index: -19.5800
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.1718
    Cell Significance Index: -2.2000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1976
    Cell Significance Index: -23.0300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2130
    Cell Significance Index: -13.7400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2383
    Cell Significance Index: -6.8000
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.2565
    Cell Significance Index: -1.5500
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.2634
    Cell Significance Index: -3.7500
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.3208
    Cell Significance Index: -4.0000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3419
    Cell Significance Index: -35.6000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3430
    Cell Significance Index: -12.9900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3445
    Cell Significance Index: -15.2400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4282
    Cell Significance Index: -33.9100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.4809
    Cell Significance Index: -36.9100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4838
    Cell Significance Index: -29.6600
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.5106
    Cell Significance Index: -3.0300

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:** 1. **Enzymatic Activity:** MSMO1 is a monooxygenase enzyme that catalyzes the oxidation of methylsterol, a precursor molecule in cholesterol biosynthesis. This reaction is critical for the production of 4,4,5,5-tetrahydroxysterol, a key intermediate in the synthesis of steroid hormones. 2. **Tissue Expression:** MSMO1 is predominantly expressed in cells of the adrenal gland, liver, and kidney, including cortical cells, hepatoblasts, pneumocytes, and Leydig cells. This widespread expression suggests a crucial role in maintaining steroid hormone homeostasis and immune regulation. 3. **Protein Binding:** MSMO1 interacts with various proteins, including iron ions and membrane-bound receptors, which are essential for its enzymatic activity and cellular localization. **Pathways and Functions:** 1. **Cholesterol Biosynthesis:** MSMO1 is integral to the cholesterol biosynthesis pathway, which is essential for the production of steroid hormones, such as cortisol and aldosterone. The enzyme's activity regulates the conversion of methylsterol to 4,4,5,5-tetrahydroxysterol, a critical intermediate in steroid hormone synthesis. 2. **Steroid Metabolism:** MSMO1 is involved in the metabolism of steroid hormones, including the degradation of 17-hydroxysteroids and the synthesis of 17-hydroxysteroid dehydrogenase. This enzyme plays a crucial role in maintaining steroid hormone homeostasis and regulating immune responses. 3. **Endoplasmic Reticulum and Membrane Association:** MSMO1 is localized to the endoplasmic reticulum and plasma membrane, where it interacts with other enzymes and receptors to regulate cholesterol and steroid metabolism. **Clinical Significance:** 1. **Adrenal Gland Function:** Mutations in the MSMO1 gene have been linked to adrenal insufficiency, a condition characterized by impaired steroid hormone production. Understanding the role of MSMO1 in adrenal gland function has significant implications for the diagnosis and treatment of this disorder. 2. **Immune Regulation:** MSMO1's involvement in regulating immune responses, particularly in the context of steroid hormone synthesis, highlights its potential as a therapeutic target for the treatment of immune-related disorders, such as autoimmune diseases and inflammatory conditions. 3. **Metabolic Disorders:** The enzyme's role in cholesterol and steroid metabolism has significant implications for the treatment of metabolic disorders, such as atherosclerosis and dyslipidemia. In conclusion, MSMO1 is a vital enzyme that plays a crucial role in regulating immune responses, metabolism, and steroid hormone synthesis. Further research into the functions and clinical implications of this gene has the potential to reveal new therapeutic targets for the treatment of various diseases, including adrenal insufficiency, immune-related disorders, and metabolic disorders.

Genular Protein ID: 894496172

Symbol: MSMO1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q15800 A8K8Q3 A8MYF6 D3DP32 Q32Q24

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 50 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 9 Ensembl 2 ExpressionAtlas 1 GO 10 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 3 Rhea 28 STRING 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8663358

Title: Characterization of yeast methyl sterol oxidase (ERG25) and identification of a human homologue.

PubMed ID: 8663358

DOI: 10.1074/jbc.271.28.16927

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: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23583456

Title: A comprehensive machine-readable view of the mammalian cholesterol biosynthesis pathway.

PubMed ID: 23583456

DOI: 10.1016/j.bcp.2013.03.021

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26114596

Title: Flux analysis of cholesterol biosynthesis in vivo reveals multiple tissue and cell-type specific pathways.

PubMed ID: 26114596

DOI: 10.7554/elife.07999

PubMed ID: 26038696

Title: Human hepatic metabolism of the anti-osteoporosis drug eldecalcitol involves sterol C4-methyl oxidase.

PubMed ID: 26038696

DOI: 10.1002/prp2.120

PubMed ID: 28673550

Title: A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization.

PubMed ID: 28673550

DOI: 10.1016/j.ymgme.2017.06.013

PubMed ID: 21285510

Title: Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.

PubMed ID: 21285510

DOI: 10.1172/jci42650

PubMed ID: 24144731

Title: The role of sterol-C4-methyl oxidase in epidermal biology.

PubMed ID: 24144731

DOI: 10.1016/j.bbalip.2013.10.009

Sequence Information:

  • Length: 293
  • Mass: 35216
  • Checksum: D88E0DDBE85DE0BF
  • Sequence:
    • MATNESVSIF SSASLAVEYV DSLLPENPLQ EPFKNAWNYM LNNYTKFQIA TWGSLIVHEA 
LYFLFCLPGF LFQFIPYMKK YKIQKDKPET WENQWKCFKV LLFNHFCIQL PLICGTYYFT 
EYFNIPYDWE RMPRWYFLLA RCFGCAVIED TWHYFLHRLL HHKRIYKYIH KVHHEFQAPF 
GMEAEYAHPL ETLILGTGFF IGIVLLCDHV ILLWAWVTIR LLETIDVHSG YDIPLNPLNL 
IPFYAGSRHH DFHHMNFIGN YASTFTWWDR IFGTDSQYNA YNEKRKKFEK KTE

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.