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Reviewed, UniProtKB/Swiss-Prot O00255 (MEN1_HUMAN)

Last modified June 16, 2009. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Menin
Gene names
Name: MEN1
Synonyms: SCG2
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length615 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

May be involved in DNA repair. Ref.3

Subunit structure

Interacts with FANCD2 and DBF4. Component of MLL-containing complexes (named MLL, ASCOM, MLL2/MLL3 or MLL3/MLL4 complex): at least composed ASH2L, RBBP5, DPY30, WDR5, one or several histone methyltransferases (MLL, MLL2, MLL3 and/or MLL4), and the facultative components MEN1, HCFC1, HCFC2, NCOA6, KDM6A, PAXIP1/PTIP and C16orf53/PA1. Ref.3 Ref.4

Subcellular location

Nucleus. Note: Concentrated in nuclear body-like structures. Relocates to the nuclear matrix upon gamma irradiation. Ref.3

Tissue specificity

Ubiquitous.

Post-translational modification

Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.7 Ref.8

Involvement in disease

Defects in MEN1 are the cause of familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]; an autosomal dominant disorder characterized by tumors of the parathyroid glands, gastro-intestinal endocrine tissue, the anterior pituitary and other tissues. Cutaneous lesions and nervous-tissue tumors can exist. Prognosis in MEN1 patients is related to hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and acute forms of hyperinsulinemia. Ref.1 Ref.9 Ref.10 Ref.12 Ref.13 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.29 Ref.30 Ref.31 Ref.32 Ref.34 Ref.35 Ref.37 Ref.39 Ref.40 Ref.41 Ref.42 Ref.43 Ref.46 Ref.47 Ref.48 Ref.49 Ref.50 Ref.51

Defects in MEN1 are the cause of familial isolated hyperparathyroidism (FIHP) [MIM:145000]; also known as hyperparathyroidism type 1 (HRPT1). FIHP is an autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors. Ref.29 Ref.14 Ref.15 Ref.36 Ref.38 Ref.44 Ref.45

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   PTMPhosphoprotein
Gene Ontology (GO)
   Biological processDNA repair Ref.3

Non-traceable author statement. Source: UniProtKB

MAPKKK cascade

Inferred from direct assay. Source: UniProtKB

negative regulation of JNK cascade

Inferred from direct assay. Source: UniProtKB

negative regulation of cell proliferation

Inferred from direct assay. Source: UniProtKB

negative regulation of cyclin-dependent protein kinase activity

Inferred from mutant phenotype. Source: UniProtKB

negative regulation of osteoblast differentiation

Inferred from genetic interaction. Source: MGI

negative regulation of protein amino acid phosphorylation

Inferred from direct assay. Source: UniProtKB

negative regulation of telomerase activity

Inferred from mutant phenotype. Source: UniProtKB

negative regulation of transcription factor activity

Inferred from direct assay. Source: UniProtKB

negative regulation of transcription from RNA polymerase II promoter

Inferred from direct assay. Source: UniProtKB

osteoblast development

Inferred from genetic interaction. Source: MGI

positive regulation of transforming growth factor beta receptor signaling pathway

Inferred from mutant phenotype. Source: UniProtKB

response to UV

Inferred from direct assay. Source: UniProtKB

response to gamma radiation Ref.3

Inferred from direct assay. Source: UniProtKB

   Cellular componentchromatin Ref.3

Inferred from direct assay. Source: UniProtKB

cleavage furrow

Inferred from direct assay. Source: UniProtKB

cytosol

Inferred from direct assay. Source: UniProtKB

histone methyltransferase complex Ref.6

Inferred from direct assay. Source: MGI

nuclear matrix Ref.3

Inferred from direct assay. Source: UniProtKB

soluble fraction Ref.3

Inferred from direct assay. Source: UniProtKB

   Molecular functionR-SMAD binding

Inferred from physical interaction. Source: UniProtKB

Y-form DNA binding

Inferred from direct assay. Source: UniProtKB

double-stranded DNA binding

Inferred from direct assay. Source: UniProtKB

four-way junction DNA binding

Inferred from direct assay. Source: UniProtKB

protein N-terminus binding

Inferred from physical interaction. Source: UniProtKB

Complete GO annotation...

Binary interactions

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O00255-1)

Also known as: Long;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: O00255-2)

Also known as: Short;

The sequence of this isoform differs from the canonical sequence as follows:
     149-153: Missing.
Isoform 3 (identifier: O00255-3)

The sequence of this isoform differs from the canonical sequence as follows:
     149-153: Missing.
     189-223: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 615615Menin
PRO_0000096411

Regions

Region219 – 395177Interaction with FANCD2

Amino acid modifications

Modified residue3991Phosphoserine Ref.7
Modified residue5991Phosphothreonine Ref.8

Natural variations

Alternative sequence149 – 1535Missing in isoform 2 and isoform 3.
VSP_004323
Alternative sequence189 – 22335Missing in isoform 3.
VSP_015854
Natural variant121P → L in MEN1.
VAR_005425
Natural variant221L → R in MEN1. Ref.1
VAR_005426
Natural variant261E → K in parathyroid adenoma and MEN1. dbSNP rs28931612. Ref.16 Ref.11
VAR_005427
Natural variant391L → W in MEN1. Ref.29 Ref.34 Ref.41
VAR_005428
Natural variant421G → D in MEN1. Ref.12 Ref.41
VAR_005429
Natural variant451E → G in MEN1. Ref.24 Ref.35 Ref.49
VAR_005430
Natural variant451E → K in MEN1. Ref.24 Ref.35 Ref.49
VAR_039587
Natural variant981R → L in MEN1. Ref.41
VAR_039588
Natural variant1101G → E in MEN1. Ref.50
VAR_039589
Natural variant1191Missing in MEN1. Ref.1 Ref.23 Ref.34 Ref.43
VAR_005431
Natural variant1351K → I in MEN1. Ref.22
VAR_005434
Natural variant1391H → D in MEN1. Ref.25 Ref.39 Ref.49
VAR_005432
Natural variant1391H → P in MEN1. Ref.25 Ref.39 Ref.49
VAR_039590
Natural variant1391H → R in MEN1. Ref.25 Ref.39 Ref.49
VAR_039591
Natural variant1391H → Y in MEN1; familial and sporadic cases. Ref.25 Ref.39 Ref.49
VAR_005433
Natural variant1441F → V in MEN1. Ref.51
VAR_005436
Natural variant1581D → V in MEN1 and FIHP.
VAR_039592
Natural variant1591S → I in MEN1. Ref.43
VAR_039593
Natural variant1601S → F in MEN1. Ref.31
VAR_039594
Natural variant1611G → D in MEN1 and parathyroid tumor.
VAR_008017
Natural variant1651A → P in MEN1. Ref.12 Ref.41
VAR_005437
Natural variant1651A → T in MEN1. Ref.12 Ref.41
VAR_039595
Natural variant1671V → F in MEN1. Ref.41
VAR_039596
Natural variant1691A → D in MEN1. Ref.12 Ref.41
VAR_005438
Natural variant1701C → R in MEN1. Ref.41 Ref.47
VAR_039597
Natural variant171 – 1733Missing in MEN1. Ref.16 Ref.23
VAR_005439
Natural variant1731L → P in MEN1. Ref.16
VAR_039598
Natural variant1761R → Q: dbSNP rs607969. Ref.1 Ref.10 Ref.20 Ref.29 Ref.49
VAR_005440
Natural variant1771D → Y in MEN1. Ref.29 Ref.41
VAR_005441
Natural variant1811A → P in MEN1.
VAR_005442
Natural variant1841E → D in MEN1. Ref.29 Ref.34 Ref.37 Ref.51
VAR_005443
Natural variant1841E → K in MEN1. Ref.29 Ref.34 Ref.37 Ref.51
VAR_039599
Natural variant1841E → Q in MEN1. Ref.29 Ref.34 Ref.37 Ref.51
VAR_039600
Natural variant1861H → R in MEN1. Ref.51
VAR_039601
Natural variant1881W → R in MEN1 and parathyroid tumor.
VAR_039602
Natural variant1881W → S in MEN1. Ref.10 Ref.12 Ref.27
VAR_005444
Natural variant1891V → E in FIHP. Ref.15
VAR_005445
Natural variant2201V → M in MEN1. Ref.35 Ref.51
VAR_039603
Natural variant2281L → P in MEN1. Ref.34 Ref.41 Ref.47
VAR_005446
Natural variant2301G → R in MEN1. Ref.27
VAR_039604
Natural variant2341R → L in MEN1. Ref.32
VAR_039605
Natural variant2451V → F in MEN1. Ref.41
VAR_039606
Natural variant2461C → F in MEN1. Ref.27 Ref.30 Ref.47
VAR_039607
Natural variant2461C → R in MEN1. Ref.27 Ref.30 Ref.47
VAR_008018
Natural variant2461C → Y in MEN1. Ref.27 Ref.30 Ref.47
VAR_039608
Natural variant2471A → V in MEN1.
VAR_005447
Natural variant2581S → P in MEN1. Ref.27
VAR_039609
Natural variant2581S → W in parathyroid tumor. Ref.27 Ref.33
VAR_039610
Natural variant2601E → K in FIHP. Ref.14
VAR_005448
Natural variant2641L → R in MEN1. Ref.51
VAR_039611
Natural variant2651Q → P in FIHP. Ref.38
VAR_039612
Natural variant2661Q → QLQ in MEN1.
VAR_039613
Natural variant2691L → P in MEN1. Ref.29
VAR_005449
Natural variant2721L → P in FIHP. Ref.29
VAR_005450
Natural variant2791E → A in parathyroid tumor. Ref.33
VAR_039614
Natural variant2821P → H in FIHP. Ref.44
VAR_039615
Natural variant2861G → R in MEN1. Ref.41 Ref.47
VAR_039616
Natural variant2891A → E in MEN1. Ref.12
VAR_005451
Natural variant2891A → P in parathyroid tumor. Ref.12 Ref.33
VAR_039617
Natural variant2911L → P in MEN1.
VAR_005452
Natural variant3101G → D in FIHP. Ref.36
VAR_039618
Natural variant3141A → P in MEN1.
VAR_005453
Natural variant3161T → P in MEN1. Ref.41 Ref.47
VAR_039619
Natural variant3191R → P in MEN1. Ref.41
VAR_005454
Natural variant3221H → R in MEN1. Ref.34 Ref.41 Ref.47
VAR_039620
Natural variant3221H → Y in MEN1. Ref.34 Ref.41 Ref.47
VAR_039621
Natural variant3251P → L in MEN1. Ref.19 Ref.51
VAR_039622
Natural variant3251P → R in MEN1. Ref.19 Ref.51
VAR_039623
Natural variant3301A → P in MEN1. Ref.46
VAR_039624
Natural variant3421A → D in MEN1. dbSNP rs2071312. Ref.34 Ref.41
VAR_005455
Natural variant3421A → P in MEN1. Ref.34 Ref.41
VAR_039625
Natural variant3461W → R in MEN1. Ref.41
VAR_005456
Natural variant3471A → P in MEN1. Ref.48
VAR_039626
Natural variant3491T → R in MEN1. Ref.35
VAR_005457
Natural variant3531I → N in MEN1. Ref.34
VAR_039627
Natural variant3581Y → D in MEN1. Ref.32
VAR_039628
Natural variant3601R → W in MEN1. Ref.51
VAR_039629
Natural variant3621D → H in MEN1. Ref.41
VAR_039630
Natural variant3641E → K in MEN1. Ref.22
VAR_005458
Natural variant3681Missing in MEN1. Ref.1 Ref.43
VAR_005459
Natural variant3731A → D in MEN1. Ref.41
VAR_005460
Natural variant3771I → M in MEN1. Ref.41
VAR_039631
Natural variant3781P → S in MEN1. Ref.32
VAR_039632
Natural variant3901A → V in MEN1. Ref.34
VAR_039633
Natural variant4161A → P in MEN1 and FIHP.
VAR_039634
Natural variant4191L → P in MEN1. Ref.40
VAR_039635
Natural variant4201R → P in MEN1. Ref.32
VAR_039636
Natural variant423 – 4264Missing in MEN1. Ref.20 Ref.41 Ref.43 Ref.47 Ref.50 Ref.51
VAR_005463
Natural variant4231D → H in MEN1. Ref.20 Ref.41 Ref.43 Ref.47 Ref.50
VAR_039637
Natural variant4231D → N in MEN1. Ref.20 Ref.41 Ref.43 Ref.47 Ref.50
VAR_005461
Natural variant4231Missing in MEN1. Ref.20 Ref.41 Ref.43 Ref.47 Ref.50
VAR_005462
Natural variant4261C → Y in MEN1. Ref.51
VAR_039638
Natural variant4281W → S in MEN1. Ref.21
VAR_039639
Natural variant4321S → R in MEN1. Ref.18
VAR_039640
Natural variant4411W → C in MEN1. Ref.1 Ref.51
VAR_039641
Natural variant4411W → R in MEN1. Ref.1 Ref.51
VAR_005464
Natural variant4491L → P in MEN1. Ref.26
VAR_039642
Natural variant4521F → S in MEN1; sporadic; with Zollinger-Ellison syndrome.
VAR_005465
Natural variant5321R → C in MEN1. Ref.41
VAR_039643
Natural variant5451P → S in MEN1. Ref.47
VAR_039644
Natural variant5461A → T: dbSNP rs2959656. Ref.19 Ref.20 Ref.27 Ref.29 Ref.49
VAR_005466
Natural variant5491P → S in MEN1. Ref.34
VAR_039645
Natural variant5571T → S in adrenal adenoma; somatic. Ref.28
VAR_039646
Natural variant5601S → N in MEN1. Ref.41
VAR_005467
Natural variant5601S → R in MEN1. Ref.41
VAR_039647

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Long) [UniParc].

Last modified April 18, 2006. Version 3.
Checksum: CDCE840EA5B71BC4

FASTA61567,993
        10         20         30         40         50         60 
MGLKAAQKTL FPLRSIDDVV RLFAAELGRE EPDLVLLSLV LGFVEHFLAV NRVIPTNVPE 

        70         80         90        100        110        120 
LTFQPSPAPD PPGGLTYFPV ADLSIIAALY ARFTAQIRGA VDLSLYPREG GVSSRELVKK 

       130        140        150        160        170        180 
VSDVIWNSLS RSYFKDRAHI QSLFSFITGW SPVGTKLDSS GVAFAVVGAC QALGLRDVHL 

       190        200        210        220        230        240 
ALSEDHAWVV FGPNGEQTAE VTWHGKGNED RRGQTVNAGV AERSWLYLKG SYMRCDRKME 

       250        260        270        280        290        300 
VAFMVCAINP SIDLHTDSLE LLQLQQKLLW LLYDLGHLER YPMALGNLAD LEELEPTPGR 

       310        320        330        340        350        360 
PDPLTLYHKG IASAKTYYRD EHIYPYMYLA GYHCRNRNVR EALQAWADTA TVIQDYNYCR 

       370        380        390        400        410        420 
EDEEIYKEFF EVANDVIPNL LKEAASLLEA GEERPGEQSQ GTQSQGSALQ DPECFAHLLR 

       430        440        450        460        470        480 
FYDGICKWEE GSPTPVLHVG WATFLVQSLG RFEGQVRQKV RIVSREAEAA EAEEPWGEEA 

       490        500        510        520        530        540 
REGRRRGPRR ESKPEEPPPP KKPALDKGLG TGQGAVSGPP RKPPGTVAGT ARGPEGGSTA 

       550        560        570        580        590        600 
QVPAPAASPP PEGPVLTFQS EKMKGMKELL VATKINSSAI KLQLTAQSQV QMKKQKVSTP 

       610 
SDYTLSFLKR QRKGL 

« Hide

Isoform 2 (Short).

Checksum: 8BE945C030372F9F
Show »

FASTA61067,467
Isoform 3.

Checksum: 2A17BF24446474D3
Show »

FASTA57563,718

References

« Hide 'large scale' references
[1]"Positional cloning of the gene for multiple endocrine neoplasia-type 1."
Chandrasekharappa S.C., Guru S.C., Manickam P., Olufemi S.-E., Collins F.S., Emmert-Buck M.R., Debelenko L.V., Zhuang Z., Lubensky I.A., Liotta L.A., Crabtree J.S., Wang Y., Roe B.A., Weisemann J., Boguski M.S., Agarwal S.K., Kester M.B., Kim Y.S. expand/collapse author list , Heppner C., Dong Q., Spiegel A.M., Burns A.L., Marx S.J.
Science 276:404-407(1997) [PubMed: 9103196] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), VARIANTS MEN1 ARG-22; LYS-119 DEL; GLU-368 DEL AND ARG-441, VARIANT GLN-176.
Tissue: Leukocyte.
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Placenta.
[3]"Menin associates with FANCD2, a protein involved in repair of DNA damage."
Jin S., Mao H., Schnepp R.W., Sykes S.M., Silva A.C., D'Andrea A.D., Hua X.
Cancer Res. 63:4204-4210(2003) [PubMed: 12874027] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH FANCD2.
[4]"Functional interaction between tumor suppressor menin and activator of S-phase kinase."
Schnepp R.W., Hou Z., Wang H., Petersen C., Silva A., Masai H., Hua X.
Cancer Res. 64:6791-6796(2004) [PubMed: 15374998] [Abstract]
Cited for: INTERACTION WITH DBF4.
[5]"Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression."
Yokoyama A., Wang Z., Wysocka J., Sanyal M., Aufiero D.J., Kitabayashi I., Herr W., Cleary M.L.
Mol. Cell. Biol. 24:5639-5649(2004) [PubMed: 15199122] [Abstract]
Cited for: IDENTIFICATION IN THE MLL-LIKE COMPLEX.
[6]"PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex."
Cho Y.-W., Hong T., Hong S., Guo H., Yu H., Kim D., Guszczynski T., Dressler G.R., Copeland T.D., Kalkum M., Ge K.
J. Biol. Chem. 282:20395-20406(2007) [PubMed: 17500065] [Abstract]
Cited for: IDENTIFICATION IN THE MLL-LIKE COMPLEX.
[7]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-399, MASS SPECTROMETRY.
[8]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-599, MASS SPECTROMETRY.
[9]"Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states."
Agarwal S.K., Kester M.B., Debelenko L.V., Heppner C., Emmert-Buck M.R., Skarulis M.C., Doppman J.L., Kim Y.S., Lubensky I.A., Zhuang Z., Green J.S., Guru S.C., Manickam P., Olufemi S.E., Liotta L.A., Chandrasekharappa S.C., Collins F.S., Spiegel A.M., Burns A.L., Marx S.J.
Hum. Mol. Genet. 6:1169-1175(1997) [PubMed: 9215689] [Abstract]
Cited for: VARIANTS MEN1.
[10]"Identification of the multiple endocrine neoplasia type 1 (MEN1) gene."
The european consortium on MEN1
Lemmens I., Van de Ven W.J.M., Kas K., Zhang C.X., Giraud S., Wautot V., Buisson N., De Witte K., Salandre J., Lenoir G., Pugeat M., Calender A., Parente F., Quincey D., Gaudray P., De Wit M.J., Lips C.J.M., Hoeppener J.W.M. expand/collapse author list , Khodaei S., Grant A.L., Weber G., Kytoelae S., Teh B.T., Farnebo F., Phelan C., Hayward N., Larsson C., Pannett A.A.J., Forbes S.A., Basset J.H.D., Thakker R.V.
Hum. Mol. Genet. 6:1177-1183(1997) [PubMed: 9215690] [Abstract]
Cited for: VARIANT MEN1 SER-188, VARIANT GLN-176.
[11]"Somatic mutation of the MEN1 gene in parathyroid tumours."
Heppner C., Kester M.B., Agarwal S.K., Debelenko L.V., Emmert-Buck M.R., Guru S.C., Manickam P., Olufemi S.-E., Skarulis M.C., Doppman J.L., Alexander R.H., Kim Y.S., Saggar S.K., Lubensky I.A., Zhuang Z., Liotta L.A., Chandrasekharappa S.C., Collins F.S. expand/collapse author list , Spiegel A.M., Burns A.L., Marx S.J.
Nat. Genet. 16:375-378(1997) [PubMed: 9241276] [Abstract]
Cited for: VARIANT PARATHYROID ADENOMA LYS-26.
[12]"Characterization of mutations in patients with multiple endocrine neoplasia type 1."
Bassett J.H.D., Forbes S.A., Pannett A.A.J., Lloyd S.E., Christie P.T., Wooding C., Harding B., Besser G.M., Edwards C.R., Monson J.P., Sampson J., Wass J.A.H., Wheeler M.H., Thakker R.V.
Am. J. Hum. Genet. 62:232-244(1998) [PubMed: 9463336] [Abstract]
Cited for: VARIANTS MEN1 ASP-42; PRO-165; ASP-169; SER-188 AND GLU-289.
[13]"Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders."
Giraud S., Zhang C.X., Serova-Sinilnikova O., Wautot V., Salandre J., Buisson N., Waterlot C., Bauters C., Porchet N., Aubert J.-P., Emy P., Cadiot G., Delemer B., Chabre O., Niccoli P., Leprat F., Duron F., Emperauger B. expand/collapse author list , Cougard P., Goudet P., Sarfati E., Riou J.-P., Guichard S., Rodier M., Meyrier A., Caron P., Vantyghem M.-C., Assayag M., Peix J.-L., Pugeat M., Rohmer V., Vallotton M., Lenoir G., Gaudray P., Proye C., Conte-Devolx B., Chanson P., Shugart Y.Y., Goldgar D., Murat A., Calender A.
Am. J. Hum. Genet. 63:455-467(1998) [PubMed: 9683585] [Abstract]
Cited for: VARIANTS MEN1.
[14]"A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors."
Teh B.T., Esapa C.T., Houlston R., Grandell U., Farnebo F., Nordenskjoeld M., Pearce C.J., Carmichael D., Larsson C., Harris P.E.
Am. J. Hum. Genet. 63:1544-1549(1998) [PubMed: 9792884] [Abstract]
Cited for: VARIANT FIHP LYS-260.
[15]"Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism."
Fujimori M., Shirahama S., Sakurai A., Hashizume K., Hama Y., Ito K., Shingu K., Kobayashi S., Amano J., Fukushima Y.
Am. J. Med. Genet. 80:221-222(1998) [PubMed: 9843042] [Abstract]
Cited for: VARIANT FIHP GLU-189.
[16]"MEN1 gene mutations in 12 MEN1 families and their associated tumors."
Bartsch D., Kopp I., Bergenfelz A., Rieder H., Muench K., Jaeger K., Deiss Y., Schudy A., Barth P., Arnold R., Rothmund M., Simon B.
Eur. J. Endocrinol. 139:416-420(1998) [PubMed: 9820618] [Abstract]
Cited for: VARIANTS MEN1 LYS-26 AND PRO-173.
[17]"Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families."
Agarwal S.K., Debelenko L.V., Kester M.B., Guru S.C., Manickam P., Olufemi S.-E., Skarulis M.C., Heppner C., Crabtree J.S., Lubensky I.A., Zhuang Z., Kim Y.S., Chandrasekharappa S.C., Collins F.S., Liotta L.A., Spiegel A.M., Burns A.L., Emmert-Buck M.R., Marx S.J.
Hum. Mutat. 12:75-82(1998) [PubMed: 9671267] [Abstract]
Cited for: VARIANTS MEN1.
[18]"Five novel mutations in the familial multiple endocrine neoplasia type 1 (MEN1) gene."
Cote G.J., Lee J.E., Evans D.B., Huang E., Schultz P.N., Dang G.T., Qiu H., Shetelbine S., Sellin R.V., Gagel R.F.
Hum. Mutat. 12:219-219(1998) [PubMed: 10660339] [Abstract]
Cited for: VARIANT MEN1 ARG-432.
[19]"Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese."
Tanaka C., Yoshimoto K., Yamada S., Nishioka H., Ii S., Moritani M., Yamaoka T., Itakura M.
J. Clin. Endocrinol. Metab. 83:960-965(1998) [PubMed: 9506756] [Abstract]
Cited for: VARIANT MEN1 LEU-325, VARIANT THR-546.
[20]"Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism."
Teh B.T., Kytoelae S., Farnebo F., Bergman L., Wong F.K., Weber G., Hayward N., Larsson C., Skogseid B., Beckers A., Phelan C., Edwards M., Epstein M., Alford F., Hurley D., Grimmond S., Silins G., Walters M. expand/collapse author list , Stewart C., Cardinal J., Khodaei S., Parente F., Tranebjaerg L., Jorde R., Menon J., Khir A., Tan T.T., Chan S.P., Zaini A., Khalid B.A.K., Sandelin K., Thompson N., Brandi M.-L., Warth M., Stock J., Leisti J., Cameron D., Shepherd J.J., Oeberg K., Nordenskjoeld M., Salmela P.
J. Clin. Endocrinol. Metab. 83:2621-2626(1998) [PubMed: 9709921] [Abstract]
Cited for: VARIANT MEN1 ASN-423, VARIANTS GLN-176 AND THR-546.
[21]"Menin mutations in MEN1 patients."
Mayr B., Brabant G., von zur Muehlen A.
J. Clin. Endocrinol. Metab. 83:3004-3005(1998) [PubMed: 9709985] [Abstract]
Cited for: VARIANT MEN1 SER-428.
[22]"Somatic mutations of the MEN1 tumor suppressor gene detected in sporadic angiofibromas."
Boeni R., Vortmeyer A.O., Pack S., Park W.-S., Burg G., Hofbauer G., Darling T., Liotta L., Zhuang Z.
J. Invest. Dermatol. 111:539-540(1998) [PubMed: 9740255] [Abstract]
Cited for: VARIANTS MEN1 ILE-135 AND LYS-364.
[23]"Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1."
Sakurai A., Shirahama S., Fujimori M., Katai M., Itakura Y., Kobayashi S., Amano J., Fukushima Y., Hashizume K.
J. Hum. Genet. 43:199-201(1998) [PubMed: 9747036] [Abstract]
Cited for: VARIANTS MEN1 LYS-119 DEL AND 171-GLN--LEU-173 DEL.
[24]"Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families."
Sato M., Matsubara S., Miyauchi A., Ohye H., Imachi H., Murao K., Takahara J.
J. Med. Genet. 35:915-919(1998) [PubMed: 9832038] [Abstract]
Cited for: VARIANT MEN1 GLY-45.
[25]"Molecular pathology of multiple endocrine neoplasia type I: two novel germline mutations and updated classification of mutations affecting MEN1 gene."
Martin-Campos J.M., Catasus L., Chico A., Mayoral C., Lagarda E., Gallart L., Mato E., Rodriguez-Espinosa J., Matias-Guiu X., De Leiva A., Blanco-Vaca F.
Diagn. Mol. Pathol. 8:195-204(1999) [PubMed: 10617276] [Abstract]
Cited for: VARIANT MEN1 ARG-139.
[26]"A new mutation of the MEN1 gene in an italian kindred with multiple endocrine neoplasia type 1."
Cetani F., Pardi E., Cianferotti L., Vignali E., Picone A., Miccoli P., Pinchera A., Marcocci C.
Eur. J. Endocrinol. 140:429-433(1999) [PubMed: 10229909] [Abstract]
Cited for: VARIANT MEN1 PRO-449.
[27]"Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1)."
Hai N., Aoki N., Matsuda A., Mori T., Kosugi S.
Eur. J. Endocrinol. 141:475-480(1999) [PubMed: 10576763] [Abstract]
Cited for: VARIANTS MEN1 ARG-188; ARG-230; TYR-246 AND PRO-258, VARIANT THR-546.
[28]"MEN I gene mutations in sporadic adrenal adenomas."
Schulte K.-M., Heinze M., Mengel M., Simon D., Scheuring S., Koehrer K., Roeher H.-D.
Hum. Genet. 105:603-610(1999) [PubMed: 10647896] [Abstract]
Cited for: VARIANT ADRENAL ADENOMA SER-557.
[29]"Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases."
Poncin J., Abs R., Velkeniers B., Bonduelle M., Abramowicz M., Legros J.-J., Verloes A., Meurisse M., van Gaal L., Verellen C., Koulischer L., Beckers A.
Hum. Mutat. 13:54-60(1999) [PubMed: 9888389] [Abstract]
Cited for: VARIANTS MEN1 TRP-39; TYR-177; ASP-184 AND PRO-269, VARIANT FIHP PRO-272, VARIANTS GLN-176 AND THR-546.
[30]"Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects."
Mutch M.G., Dilley W.G., Sanjurjo F., Debenedetti M.K., Doherty G.M., Wells S.A. Jr., Goodfellow P.J., Lairmore T.C.
Hum. Mutat. 13:175-185(1999) [PubMed: 10090472] [Abstract]
Cited for: VARIANTS MEN1 ASP-161 AND ARG-246.
[31]"Germline mutations in the MEN1 gene: creation of a new splice acceptor site and insertion of 7 intron nucleotides into the mRNA."
Engelbach M., Forst T., Hankeln T., Tratzky M., Heerdt S., Pfuetzner A., Kann P., Kunt T., Schneider S., Schmidt E.R., Beyer J.
Int. J. Mol. Med. 4:483-485(1999) [PubMed: 10534569] [Abstract]
Cited for: VARIANT MEN1 PHE-160.
[32]"Identification of MEN1 gene mutations in families with MEN 1 and related disorders."
Bergman L., Teh B.T., Cardinal J., Palmer J., Walters M., Shepherd J., Cameron D., Hayward N.
Br. J. Cancer 83:1009-1014(2000) [PubMed: 10993647] [Abstract]
Cited for: VARIANTS MEN1 LEU-234; ASP-358; SER-378 AND PRO-420.
[33]"Screening of the MEN1 gene and discovery of germ-line and somatic mutations in apparently sporadic parathyroid tumors."
Uchino S., Noguchi S., Sato M., Yamashita H., Yamashita H., Watanabe S., Murakami T., Toda M., Ohshima A., Futata T., Mizukoshi T., Koike E., Takatsu K., Terao K., Wakiya S., Nagatomo M., Adachi M.
Cancer Res. 60:5553-5557(2000) [PubMed: 11034102] [Abstract]
Cited for: VARIANTS PARATHYROID TUMOR ASP-161; ARG-188; TRP-258; ALA-279 AND PRO-289.
[34]"Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding."
Roijers J.F.M., de Wit M.J., van der Luijt R.B., Ploos van Amstel H.K., Hoeppener J.W.M., Lips C.J.M.
Eur. J. Clin. Invest. 30:487-492(2000) [PubMed: 10849016] [Abstract]
Cited for: VARIANTS MEN1 TRP-39; LYS-119 DEL; GLN-184; PRO-228; ARG-322; PRO-342; ASN-353; VAL-390 AND SER-549.
[35]"MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1."
Morelli A., Falchetti A., Martineti V., Becherini L., Mark M., Friedman E., Brandi M.L.
Eur. J. Endocrinol. 142:131-137(2000) [PubMed: 10664520] [Abstract]
Cited for: VARIANTS MEN1 LYS-45; MET-220 AND ARG-349.
[36]"A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism."
Honda M., Tsukada T., Tanaka H., Maruyama K., Yamaguchi K., Obara T., Yamaji T., Ishibashi M.
Eur. J. Endocrinol. 142:138-143(2000) [PubMed: 10664521] [Abstract]
Cited for: VARIANT FIHP ASP-310.
[37]"A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1)."
Weinhaeusel A., Vierhapper H., Schlegl R., Wagner T., Muhr D., Scheuba C., Niederle B., Haas O.A.
Hum. Mutat. 16:533-533(2000) [PubMed: 11102994] [Abstract]
Cited for: VARIANT MEN1 LYS-184.
[38]"Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree."
Kassem M., Kruse T.A., Wong F.K., Larsson C., Teh B.T.
J. Clin. Endocrinol. Metab. 85:165-167(2000) [PubMed: 10634381] [Abstract]
Cited for: VARIANT FIHP PRO-265.
[39]"Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1."
Stratakis C.A., Schussheim D.H., Freedman S.M., Keil M.F., Pack S.D., Agarwal S.K., Skarulis M.C., Weil R.J., Lubensky I.A., Zhuang Z., Oldfield E.H., Marx S.J.
J. Clin. Endocrinol. Metab. 85:4776-4780(2000) [PubMed: 11134142] [Abstract]
Cited for: VARIANT MEN1 ASP-139.
[40]"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."
Asteria C., Faglia G., Roncoroni R., Borretta G., Ribotto P., Beck-Peccoz P.
Hum. Mutat. 17:237-237(2001) [PubMed: 11241849] [Abstract]
Cited for: VARIANT MEN1 PRO-419.
[41]"Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein."
Wautot V., Vercherat C., Lespinasse J., Chambe B., Lenoir G.M., Zhang C.X., Porchet N., Cordier M., Beroud C., Calender A.
Hum. Mutat. 20:35-47(2002) [PubMed: 12112656] [Abstract]
Cited for: VARIANTS MEN1 TRP-39; ASP-42; LEU-98; PRO-165; THR-165; PHE-167; ASP-169; ARG-170; TYR-177; PRO-228; PHE-245; ARG-286; PRO-316; PRO-319; TYR-322; ARG-322; ASP-342; ARG-346; HIS-362; ASP-373; MET-377; ASN-423; CYS-532; ASN-560 AND ARG-560.
[42]"A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in three patients with familial insulinoma and primary hyperparathyroidism."
Okamoto H., Tamada A., Hai N., Doi M., Uchimura I., Hirata Y., Kosugi S.
Jpn. J. Clin. Oncol. 32:368-370(2002) [PubMed: 12417605] [Abstract]
Cited for: VARIANT MEN1 LEU-GLN-266 INS.
[43]"Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1."
Turner J.J.O., Leotlela P.D., Pannett A.A.J., Forbes S.A., Bassett J.H.D., Harding B., Christie P.T., Bowen-Jones D., Ellard S., Hattersley A., Jackson C.E., Pope R., Quarrell O.W., Trembath R., Thakker R.V.
J. Clin. Endocrinol. Metab. 87:2688-2693(2002) [PubMed: 12050235] [Abstract]
Cited for: VARIANTS MEN1 LYS-119 DEL; ILE-159; GLU-368 DEL AND ASN-423.
[44]"Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism."
Perrier N.D., Villablanca A., Larsson C., Wong M., Ituarte P., Teh B.T., Clark O.H.
World J. Surg. 26:907-913(2002) [PubMed: 12016470] [Abstract]
Cited for: VARIANT FIHP HIS-282.
[45]"Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism."
Pannett A.A.J., Kennedy A.M., Turner J.J.O., Forbes S.A., Cavaco B.M., Bassett J.H.D., Cianferotti L., Harding B., Shine B., Flinter F., Maidment C.G.H., Trembath R., Thakker R.V.
Clin. Endocrinol. (Oxf.) 58:639-646(2003) [PubMed: 12699448] [Abstract]
Cited for: VARIANTS FIHP VAL-158 AND PRO-416.
[46]"Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders."
Park J.-H., Kim I.-J., Kang H.C., Lee S.-H., Shin Y., Kim K.-H., Lim S.-B., Kang S.-B., Lee K.U., Kim S.Y., Lee M.-S., Lee M.-K., Park J.-H., Moon S.-D., Park J.-G.
Clin. Genet. 64:48-53(2003) [PubMed: 12791038] [Abstract]
Cited for: VARIANT MEN1 PRO-330.
[47]"Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis."
Groupe d'etude des neoplasies emdocriniennes multiples
Crepin M., Escande F., Pigny P., Buisine M.-P., Calender A., Porchet N., Odou M.-F.
Electrophoresis 24:26-33(2003) [PubMed: 12652570] [Abstract]
Cited for: VARIANTS MEN1 ARG-170; PRO-228; PHE-246; ARG-286; PRO-316; TYR-322; ASN-423 AND SER-545.
[48]"A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome."
Ukita C., Yamaguchi M., Tanaka T., Shigeta H., Nishikawa M.
Intern. Med. 42:1112-1116(2003) [PubMed: 14686752] [Abstract]
Cited for: VARIANT MEN1 PRO-347.
[49]"Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients."
Cebrian A., Ruiz-Llorente S., Cascon A., Pollan M., Diez J.J., Pico A., Telleria D., Benitez J., Robledo M.
J. Med. Genet. 40:E72-E72(2003) [PubMed: 12746426] [Abstract]
Cited for: VARIANTS MEN1 LYS-45 AND PRO-139, VARIANTS GLN-176 AND THR-546.
[50]"Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1."
Jap T.-S., Chiu C.-Y., Won J.G.-S., Wu Y.-C., Chen H.-S.
Clin. Endocrinol. (Oxf.) 62:336-342(2005) [PubMed: 15730416] [Abstract]
Cited for: VARIANTS MEN1 GLU-110 AND HIS-423.
[51]"Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory."
Klein R.D., Salih S., Bessoni J., Bale A.E.
Genet. Med. 7:131-138(2005) [PubMed: 15714081] [Abstract]
Cited for: VARIANTS MEN1 VAL-144; ASP-161; ASP-184; LYS-184; ARG-186; MET-220; ARG-264; ARG-325; TRP-360; TYR-426; CYS-441 AND ARG-441.
+Additional computationally mapped references.

Cross-references

Sequence databases

U93236 mRNA. Translation: AAC51228.1.
U93237 Genomic DNA. Translation: AAC51229.1.
U93237 Genomic DNA. Translation: AAC51230.1.
BC002544 mRNA. Translation: AAH02544.1.
IPIIPI00182106.
IPI00328838.
IPI00651636.
RefSeqNP_000235.2.
NP_570711.1.
NP_570712.1.
NP_570713.1.
NP_570714.1.
NP_570715.1.
NP_570716.1.
UniGeneHs.423348

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

DIPDIP:24236N.
IntActO00255. 11 interactions.

PTM databases

PhosphoSiteO00255.

Proteomic databases

PRIDEO00255.

Genome annotation databases

EnsemblENSG00000133895. Homo sapiens. [Contig view]
GeneID4221.
KEGGhsa:4221.

Organism-specific databases

GeneCardsGC11M064327.
H-InvDBHIX0009771.
HGNCHGNC:7010. MEN1.
MIM131100. gene+phenotype.
145000. phenotype.
Orphanet99879. Hyperparathyroidism, familial, isolated (FIHPT).
2207. Hyperparathyroidism, primary, familial.
652. Multiple endocrine neoplasia type 1.
99877. Parathyroid adenoma.
913. Zollinger-Ellison syndrome.
PharmGKBPA38241.
GenAtlasSearch...

Phylogenomic databases

HOGENOMO00255.
HOVERGENO00255.

Gene expression databases

BgeeO00255.
CleanExHS_MEN1.
HS_SCG2.
GermOnlineENSG00000133895. Homo sapiens.

Family and domain databases

InterProIPR007747. Menin.
[Graphical view]
PANTHERPTHR12693. Menin. 1 hit.
PfamPF05053. Menin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio16643.
SOURCESearch...

Entry information

Entry nameMEN1_HUMAN
AccessionPrimary (citable) accession number: O00255
Secondary accession number(s): O00632, Q9BUK2
Entry history
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: April 18, 2006
Last modified: June 16, 2009
This is version 87 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents