Details for: MEN1

Gene ID: 4221

Symbol: MEN1

Ensembl ID: ENSG00000133895

Description: menin 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: 68.4688
    Cell Significance Index: -10.6500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 35.8771
    Cell Significance Index: -9.1000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 24.4057
    Cell Significance Index: -9.9200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 9.0433
    Cell Significance Index: -11.1500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.0502
    Cell Significance Index: -10.8500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 2.9725
    Cell Significance Index: -9.1300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.8687
    Cell Significance Index: -11.3200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.1007
    Cell Significance Index: 108.8900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9251
    Cell Significance Index: 835.3100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.9105
    Cell Significance Index: 106.1100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.7271
    Cell Significance Index: 9.9200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.6844
    Cell Significance Index: 18.3400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6676
    Cell Significance Index: 72.6200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6164
    Cell Significance Index: 100.2600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.6003
    Cell Significance Index: 15.3400
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.5944
    Cell Significance Index: 3.6800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5697
    Cell Significance Index: 16.4200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5067
    Cell Significance Index: 22.9700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5012
    Cell Significance Index: 26.0400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3590
    Cell Significance Index: 24.8300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2963
    Cell Significance Index: 6.4200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.2859
    Cell Significance Index: 5.9900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.2791
    Cell Significance Index: 9.7000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2456
    Cell Significance Index: 49.2600
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.2374
    Cell Significance Index: 3.0400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2266
    Cell Significance Index: 14.6200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.2262
    Cell Significance Index: 3.3900
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: 0.2256
    Cell Significance Index: 1.4400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.2233
    Cell Significance Index: 4.8900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2046
    Cell Significance Index: 28.1000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2000
    Cell Significance Index: 23.5900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1914
    Cell Significance Index: 104.5300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1790
    Cell Significance Index: 32.2800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1687
    Cell Significance Index: 33.4700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1685
    Cell Significance Index: 10.6200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1596
    Cell Significance Index: 4.4600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1510
    Cell Significance Index: 3.9700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1458
    Cell Significance Index: 6.8000
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.1252
    Cell Significance Index: 1.0000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1174
    Cell Significance Index: 14.4300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1103
    Cell Significance Index: 48.7800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0967
    Cell Significance Index: 34.6700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0874
    Cell Significance Index: 2.3800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0771
    Cell Significance Index: 53.3000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0767
    Cell Significance Index: 9.8300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0710
    Cell Significance Index: 3.3400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0639
    Cell Significance Index: 1.3600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.0580
    Cell Significance Index: 0.6300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0545
    Cell Significance Index: 10.3800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0320
    Cell Significance Index: 1.6800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0041
    Cell Significance Index: 0.1100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0031
    Cell Significance Index: 5.8400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0033
    Cell Significance Index: -6.1500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0045
    Cell Significance Index: -6.9500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0054
    Cell Significance Index: -4.1200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0058
    Cell Significance Index: -4.2700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0060
    Cell Significance Index: -0.1000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0063
    Cell Significance Index: -4.0300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0064
    Cell Significance Index: -1.0900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0074
    Cell Significance Index: -10.0400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0131
    Cell Significance Index: -1.6900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0142
    Cell Significance Index: -10.5500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0144
    Cell Significance Index: -1.0200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0176
    Cell Significance Index: -9.9300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0196
    Cell Significance Index: -8.9000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0196
    Cell Significance Index: -2.2500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0220
    Cell Significance Index: -13.7400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0242
    Cell Significance Index: -1.8000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0256
    Cell Significance Index: -2.6100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0303
    Cell Significance Index: -4.4000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0320
    Cell Significance Index: -9.2100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0425
    Cell Significance Index: -2.6100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0510
    Cell Significance Index: -3.4300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0524
    Cell Significance Index: -2.9400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0591
    Cell Significance Index: -12.4500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0712
    Cell Significance Index: -1.9100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0865
    Cell Significance Index: -0.9000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0909
    Cell Significance Index: -3.2000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0927
    Cell Significance Index: -7.1100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1030
    Cell Significance Index: -10.7200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1090
    Cell Significance Index: -3.1100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1118
    Cell Significance Index: -3.5800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1144
    Cell Significance Index: -5.0600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1196
    Cell Significance Index: -2.9900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1210
    Cell Significance Index: -9.5800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1388
    Cell Significance Index: -4.0800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1435
    Cell Significance Index: -2.4600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1465
    Cell Significance Index: -8.9800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1516
    Cell Significance Index: -5.7400
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1611
    Cell Significance Index: -1.8300
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.1627
    Cell Significance Index: -1.0800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1766
    Cell Significance Index: -9.2000
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1935
    Cell Significance Index: -4.4700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2097
    Cell Significance Index: -6.0100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2245
    Cell Significance Index: -3.2200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2286
    Cell Significance Index: -8.3900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2292
    Cell Significance Index: -6.7500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2358
    Cell Significance Index: -7.5100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2367
    Cell Significance Index: -7.7500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2426
    Cell Significance Index: -8.5000

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. **Location**: The MEN1 gene is located on chromosome 11q13 in humans. 2. **Structure**: The Menin protein is a 548-amino acid protein with a unique structure, consisting of two main domains: a catalytic domain and a scaffold domain. 3. **Expression**: The MEN1 gene is widely expressed in various tissues, including the brain, pancreas, thyroid, parathyroid, and adrenal glands. 4. **Function**: The Menin protein regulates cell growth, differentiation, and survival by interacting with numerous transcriptional regulators and signaling molecules, including Wnt/β-catenin, Notch, and TGF-β pathways. 5. **Protein-protein interactions**: Menin interacts with a wide range of proteins, including histone-modifying complexes, transcription factors, and signaling molecules, to regulate gene expression and cell growth. **Pathways and Functions** The Menin protein is involved in various cellular processes, including: 1. **Chromatin regulation**: Menin interacts with histone-modifying complexes to regulate chromatin structure and transcription. 2. **Wnt/β-catenin signaling**: Menin regulates the Wnt/β-catenin pathway, which is involved in cell growth, differentiation, and survival. 3. **Notch signaling**: Menin interacts with Notch signaling molecules to regulate cell fate decisions and differentiation. 4. **TGF-β signaling**: Menin regulates TGF-β signaling, which is involved in cell growth, differentiation, and apoptosis. 5. **DNA damage response**: Menin interacts with DNA damage response proteins to regulate cell growth and survival in response to DNA damage. **Clinical Significance** The Menin gene is associated with Multiple Endocrine Neoplasia type 1 (MEN1), a rare hereditary disorder characterized by the development of tumors in multiple endocrine glands. Mutations in the MEN1 gene have been identified in patients with: 1. **Pituitary tumors**: Menin mutations are associated with the development of pituitary tumors, including prolactinomas and somatotroph adenomas. 2. **Parathyroid tumors**: Menin mutations are associated with the development of parathyroid tumors, including parathyroid hyperplasia and adenomas. 3. **Pancreatic neuroendocrine tumors**: Menin mutations are associated with the development of pancreatic neuroendocrine tumors, including gastrinomas and insulinomas. 4. **Thyroid carcinoma**: Menin mutations are associated with the development of thyroid carcinoma, including papillary and follicular thyroid carcinomas. In conclusion, the Menin gene plays a critical role in maintaining genomic stability and regulating cell growth, differentiation, and survival. Mutations in the MEN1 gene have significant clinical implications, including the development of multiple endocrine neoplasia and various types of tumors. Further research is necessary to fully understand the mechanisms of Menin function and the clinical implications of MEN1 mutations.

Genular Protein ID: 1320098255

Symbol: MEN1_HUMAN

Name: Menin

UniProtKB Accession Codes:

O00255 A5HBC6 A5HBC7 A5HBC8 A5HBC9 A5HBD0 A5HBD1 A5HBD2 O00632 Q9BUF0 Q9BUK2

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CPTC 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 3 DIP 1 DNASU 1 DisGeNET 1 DrugCentral 1 EMBL 13 EMDB 1 Ensembl 10 EvolutionaryTrace 1 ExpressionAtlas 1 GO 43 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PDB 47 PDBsum 47 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 7 RefSeq 10 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9103196

Title: Positional cloning of the gene for multiple endocrine neoplasia-type 1.

PubMed ID: 9103196

DOI: 10.1126/science.276.5311.404

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 17555499

Title: Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1.

PubMed ID: 17555499

DOI: 10.1111/j.1365-2265.2007.02895.x

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: 9989505

Title: Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription.

PubMed ID: 9989505

DOI: 10.1016/s0092-8674(00)80967-8

PubMed ID: 11526476

Title: The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation.

PubMed ID: 11526476

DOI: 10.1038/sj.onc.1204529

PubMed ID: 11274402

Title: Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling.

PubMed ID: 11274402

DOI: 10.1073/pnas.061358098

PubMed ID: 12874027

Title: Menin associates with FANCD2, a protein involved in repair of DNA damage.

PubMed ID: 12874027

PubMed ID: 12837246

Title: Multiple tumor suppressor pathways negatively regulate telomerase.

PubMed ID: 12837246

DOI: 10.1016/s0092-8674(03)00430-6

PubMed ID: 15374998

Title: Functional interaction between tumor suppressor menin and activator of S-phase kinase.

PubMed ID: 15374998

DOI: 10.1158/0008-5472.can-04-0724

PubMed ID: 14992727

Title: Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus.

PubMed ID: 14992727

DOI: 10.1016/s1097-2765(04)00081-4

PubMed ID: 15199122

Title: Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression.

PubMed ID: 15199122

DOI: 10.1128/mcb.24.13.5639-5649.2004

PubMed ID: 17500065

Title: PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex.

PubMed ID: 17500065

DOI: 10.1074/jbc.m701574200

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25305204

Title: The same site on the integrase-binding domain of lens epithelium-derived growth factor is a therapeutic target for MLL leukemia and HIV.

PubMed ID: 25305204

DOI: 10.1182/blood-2014-01-550079

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: 22936661

Title: Structural insights into inhibition of the bivalent menin-MLL interaction by small molecules in leukemia.

PubMed ID: 22936661

DOI: 10.1182/blood-2012-05-429274

PubMed ID: 22327296

Title: The same pocket in menin binds both MLL and JUND but has opposite effects on transcription.

PubMed ID: 22327296

DOI: 10.1038/nature10806

PubMed ID: 9215689

Title: Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.

PubMed ID: 9215689

DOI: 10.1093/hmg/6.7.1169

PubMed ID: 9215690

Title: Identification of the multiple endocrine neoplasia type 1 (MEN1) gene.

PubMed ID: 9215690

DOI: 10.1093/hmg/6.7.1177

PubMed ID: 9241276

Title: Somatic mutation of the MEN1 gene in parathyroid tumours.

PubMed ID: 9241276

DOI: 10.1038/ng0897-375

PubMed ID: 9463336

Title: Characterization of mutations in patients with multiple endocrine neoplasia type 1.

PubMed ID: 9463336

DOI: 10.1086/301729

PubMed ID: 9683585

Title: Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.

PubMed ID: 9683585

DOI: 10.1086/301953

PubMed ID: 9792884

Title: A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors.

PubMed ID: 9792884

DOI: 10.1086/302097

PubMed ID: 9843042

Title: Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism.

PubMed ID: 9843042

DOI: 10.1002/(sici)1096-8628(19981116)80:3<221::aid-ajmg8>3.0.co;2-1

PubMed ID: 9820618

Title: MEN1 gene mutations in 12 MEN1 families and their associated tumors.

PubMed ID: 9820618

DOI: 10.1530/eje.0.1390416

PubMed ID: 9671267

Title: Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families.

PubMed ID: 9671267

DOI: 10.1002/(sici)1098-1004(1998)12:2<75::aid-humu1>3.0.co;2-t

PubMed ID: 10660339

Title: Five novel mutations in the familial multiple endocrine neoplasia type 1 (MEN1) gene.

PubMed ID: 10660339

PubMed ID: 9506756

Title: Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese.

PubMed ID: 9506756

DOI: 10.1210/jcem.83.3.4653

PubMed ID: 9709921

Title: Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.

PubMed ID: 9709921

DOI: 10.1210/jcem.83.8.5059

PubMed ID: 9709976

Title: Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism.

PubMed ID: 9709976

DOI: 10.1210/jcem.83.8.4977

PubMed ID: 9709985

Title: Menin mutations in MEN1 patients.

PubMed ID: 9709985

DOI: 10.1210/jcem.83.8.5033-4

PubMed ID: 9740255

Title: Somatic mutations of the MEN1 tumor suppressor gene detected in sporadic angiofibromas.

PubMed ID: 9740255

DOI: 10.1046/j.1523-1747.1998.00317.x

PubMed ID: 9747036

Title: Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1.

PubMed ID: 9747036

DOI: 10.1007/s100380050070

PubMed ID: 9832038

Title: Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families.

PubMed ID: 9832038

DOI: 10.1136/jmg.35.11.915

PubMed ID: 10617276

Title: Molecular pathology of multiple endocrine neoplasia type I: two novel germline mutations and updated classification of mutations affecting MEN1 gene.

PubMed ID: 10617276

DOI: 10.1097/00019606-199912000-00005

PubMed ID: 10229909

Title: A new mutation of the MEN1 gene in an Italian kindred with multiple endocrine neoplasia type 1.

PubMed ID: 10229909

DOI: 10.1530/eje.0.1400429

PubMed ID: 10576763

Title: Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1).

PubMed ID: 10576763

DOI: 10.1530/eje.0.1410475

PubMed ID: 10647896

Title: MEN I gene mutations in sporadic adrenal adenomas.

PubMed ID: 10647896

DOI: 10.1007/s004399900193

PubMed ID: 9888389

Title: Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.

PubMed ID: 9888389

DOI: 10.1002/(sici)1098-1004(1999)13:1<54::aid-humu6>3.0.co;2-k

PubMed ID: 10090472

Title: Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects.

PubMed ID: 10090472

DOI: 10.1002/(sici)1098-1004(1999)13:3<175::aid-humu1>3.0.co;2-r

PubMed ID: 10534569

Title: Germline mutations in the MEN1 gene: creation of a new splice acceptor site and insertion of 7 intron nucleotides into the mRNA.

PubMed ID: 10534569

DOI: 10.3892/ijmm.4.5.483

PubMed ID: 10993647

Title: Identification of MEN1 gene mutations in families with MEN 1 and related disorders.

PubMed ID: 10993647

DOI: 10.1054/bjoc.2000.1380

PubMed ID: 11034102

Title: Screening of the MEN1 gene and discovery of germ-line and somatic mutations in apparently sporadic parathyroid tumors.

PubMed ID: 11034102

PubMed ID: 10849016

Title: Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding.

PubMed ID: 10849016

DOI: 10.1046/j.1365-2362.2000.00664.x

PubMed ID: 10664520

Title: MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1.

PubMed ID: 10664520

DOI: 10.1530/eje.0.1420131

PubMed ID: 10664521

Title: A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism.

PubMed ID: 10664521

DOI: 10.1530/eje.0.1420138

PubMed ID: 11102994

Title: A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1).

PubMed ID: 11102994

DOI: 10.1002/1098-1004(200012)16:6<533::aid-humu22>3.0.co;2-5

PubMed ID: 10634381

Title: Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree.

PubMed ID: 10634381

DOI: 10.1210/jcem.85.1.6299

PubMed ID: 11134142

Title: Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1.

PubMed ID: 11134142

DOI: 10.1210/jcem.85.12.7064

PubMed ID: 11241849

Title: Identification of three novel menin mutations (c.741delGTCA, c.1348T>C, c.1785delA) in unrelated Italian families affected with multiple endocrine neoplasia type 1: additional information for mutational screening.

PubMed ID: 11241849

DOI: 10.1002/humu.12

PubMed ID: 12112656

Title: Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

PubMed ID: 12112656

DOI: 10.1002/humu.10092

PubMed ID: 12417605

Title: A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in three patients with familial insulinoma and primary hyperparathyroidism.

PubMed ID: 12417605

DOI: 10.1093/jjco/hyf079

PubMed ID: 12050235

Title: Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.

PubMed ID: 12050235

DOI: 10.1210/jcem.87.6.8607

PubMed ID: 12016470

Title: Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism.

PubMed ID: 12016470

DOI: 10.1007/s00268-002-6617-9

PubMed ID: 12699448

Title: Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.

PubMed ID: 12699448

DOI: 10.1046/j.1365-2265.2003.01765.x

PubMed ID: 12791038

Title: Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders.

PubMed ID: 12791038

DOI: 10.1034/j.1399-0004.2003.00091.x

PubMed ID: 12652570

Title: Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.

PubMed ID: 12652570

DOI: 10.1002/elps.200390023

PubMed ID: 14686752

Title: A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome.

PubMed ID: 14686752

DOI: 10.2169/internalmedicine.42.1112

PubMed ID: 12746426

Title: Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients.

PubMed ID: 12746426

DOI: 10.1136/jmg.40.5.e72

PubMed ID: 15205994

Title: Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene.

PubMed ID: 15205994

DOI: 10.1007/s10038-004-0163-2

PubMed ID: 15730416

Title: Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1.

PubMed ID: 15730416

DOI: 10.1111/j.1365-2265.2005.02219.x

PubMed ID: 15714081

Title: Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.

PubMed ID: 15714081

DOI: 10.1097/01.gim.0000153663.62300.f8

PubMed ID: 17555500

Title: Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas.

PubMed ID: 17555500

DOI: 10.1111/j.1365-2265.2007.02894.x

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

Sequence Information:

  • Length: 610
  • Mass: 67497
  • Checksum: 9BF844C0302B43EF
  • Sequence:
    • MGLKAAQKTL FPLRSIDDVV RLFAAELGRE EPDLVLLSLV LGFVEHFLAV NRVIPTNVPE 
LTFQPSPAPD PPGGLTYFPV ADLSIIAALY ARFTAQIRGA VDLSLYPREG GVSSRELVKK 
VSDVIWNSLS RSYFKDRAHI QSLFSFITGT KLDSSGVAFA VVGACQALGL RDVHLALSED 
HAWVVFGPNG EQTAEVTWHG KGNEDRRGQT VNAGVAERSW LYLKGSYMRC DRKMEVAFMV 
CAINPSIDLH TDSLELLQLQ QKLLWLLYDL GHLERYPMAL GNLADLEELE PTPGRPDPLT 
LYHKGIASAK TYYRDEHIYP YMYLAGYHCR NRNVREALQA WADTATVIQD YNYCREDEEI 
YKEFFEVAND VIPNLLKEAA SLLEAGEERP GEQSQGTQSQ GSALQDPECF AHLLRFYDGI 
CKWEEGSPTP VLHVGWATFL VQSLGRFEGQ VRQKVRIVSR EAEAAEAEEP WGEEAREGRR 
RGPRRESKPE EPPPPKKPAL DKGLGTGQGA VSGPPRKPPG TVAGTARGPE GGSTAQVPAP 
TASPPPEGPV LTFQSEKMKG MKELLVATKI NSSAIKLQLT AQSQVQMKKQ KVSTPSDYTL 
SFLKRQRKGL

Genular Protein ID: 2590876449

Symbol: Q9GZQ5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9GZQ5

Database IDs:

ARBA 6 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 3 ExpressionAtlas 1 GO 1 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Pfam 1 PharmGKB 1 Proteomes 2 ProteomicsDB 2 RefSeq 5 SMR 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11027505

Title: Heterogeneity at the 5 -end of the MEN1 transcripts.

PubMed ID: 11027505

DOI: 10.1006/bbrc.2000.3471

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

Sequence Information:

  • Length: 146
  • Mass: 16146
  • Checksum: BD7EDFF9A7AE03C7
  • Sequence:
    • MGLKAAQKTL FPLRSIDDVV RLFAAELGRE EPDLVLLSLV LGFVEHFLAV NRVIPTNVPE 
LTFQPSPAPD PPGGLTYFPV ADLSIIAALY ARFTAQIRGA VDLSLYPREG GVSSRELVKK 
VSDVIWNSLS RSYFKDRAHI QSLFSF

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.