Reviewed,
UniProtKB/Swiss-Prot O00255 (MEN1_HUMAN)
Last modified
June 16, 2009.
Version 87.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Menin | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 615 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence 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
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| EBF3 | Q9H4W6 | 1 | EBI-592789,EBI-2111898 | |
| FANCD2 | Q9BXW9 | 4 | EBI-592789,EBI-359343 | |
| MYH9 | P35579 | 5 | EBI-592789,EBI-350338 | |
| Nme1 | Q05982 | 4 | EBI-592789,EBI-1165329 | From a different organism. |
| RPRM | Q9NS64 | 1 | EBI-592789,EBI-1052363 |
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 615 | 615 | Menin | PRO_0000096411 | |||||
Regions | |||||||||
| Region | 219 – 395 | 177 | Interaction with FANCD2 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 399 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 599 | 1 | Phosphothreonine Ref.8 | ||||||
Natural variations | |||||||||
| Alternative sequence | 149 – 153 | 5 | Missing in isoform 2 and isoform 3. | VSP_004323 | |||||
| Alternative sequence | 189 – 223 | 35 | Missing in isoform 3. | VSP_015854 | |||||
| Natural variant | 12 | 1 | P → L in MEN1. | VAR_005425 | |||||
| Natural variant | 22 | 1 | L → R in MEN1. Ref.1 | VAR_005426 | |||||
| Natural variant | 26 | 1 | E → K in parathyroid adenoma and MEN1. dbSNP rs28931612. Ref.16 Ref.11 | VAR_005427 | |||||
| Natural variant | 39 | 1 | L → W in MEN1. Ref.29 Ref.34 Ref.41 | VAR_005428 | |||||
| Natural variant | 42 | 1 | G → D in MEN1. Ref.12 Ref.41 | VAR_005429 | |||||
| Natural variant | 45 | 1 | E → G in MEN1. Ref.24 Ref.35 Ref.49 | VAR_005430 | |||||
| Natural variant | 45 | 1 | E → K in MEN1. Ref.24 Ref.35 Ref.49 | VAR_039587 | |||||
| Natural variant | 98 | 1 | R → L in MEN1. Ref.41 | VAR_039588 | |||||
| Natural variant | 110 | 1 | G → E in MEN1. Ref.50 | VAR_039589 | |||||
| Natural variant | 119 | 1 | Missing in MEN1. Ref.1 Ref.23 Ref.34 Ref.43 | VAR_005431 | |||||
| Natural variant | 135 | 1 | K → I in MEN1. Ref.22 | VAR_005434 | |||||
| Natural variant | 139 | 1 | H → D in MEN1. Ref.25 Ref.39 Ref.49 | VAR_005432 | |||||
| Natural variant | 139 | 1 | H → P in MEN1. Ref.25 Ref.39 Ref.49 | VAR_039590 | |||||
| Natural variant | 139 | 1 | H → R in MEN1. Ref.25 Ref.39 Ref.49 | VAR_039591 | |||||
| Natural variant | 139 | 1 | H → Y in MEN1; familial and sporadic cases. Ref.25 Ref.39 Ref.49 | VAR_005433 | |||||
| Natural variant | 144 | 1 | F → V in MEN1. Ref.51 | VAR_005436 | |||||
| Natural variant | 158 | 1 | D → V in MEN1 and FIHP. | VAR_039592 | |||||
| Natural variant | 159 | 1 | S → I in MEN1. Ref.43 | VAR_039593 | |||||
| Natural variant | 160 | 1 | S → F in MEN1. Ref.31 | VAR_039594 | |||||
| Natural variant | 161 | 1 | G → D in MEN1 and parathyroid tumor. | VAR_008017 | |||||
| Natural variant | 165 | 1 | A → P in MEN1. Ref.12 Ref.41 | VAR_005437 | |||||
| Natural variant | 165 | 1 | A → T in MEN1. Ref.12 Ref.41 | VAR_039595 | |||||
| Natural variant | 167 | 1 | V → F in MEN1. Ref.41 | VAR_039596 | |||||
| Natural variant | 169 | 1 | A → D in MEN1. Ref.12 Ref.41 | VAR_005438 | |||||
| Natural variant | 170 | 1 | C → R in MEN1. Ref.41 Ref.47 | VAR_039597 | |||||
| Natural variant | 171 – 173 | 3 | Missing in MEN1. Ref.16 Ref.23 | VAR_005439 | |||||
| Natural variant | 173 | 1 | L → P in MEN1. Ref.16 | VAR_039598 | |||||
| Natural variant | 176 | 1 | R → Q: dbSNP rs607969. Ref.1 Ref.10 Ref.20 Ref.29 Ref.49 | VAR_005440 | |||||
| Natural variant | 177 | 1 | D → Y in MEN1. Ref.29 Ref.41 | VAR_005441 | |||||
| Natural variant | 181 | 1 | A → P in MEN1. | VAR_005442 | |||||
| Natural variant | 184 | 1 | E → D in MEN1. Ref.29 Ref.34 Ref.37 Ref.51 | VAR_005443 | |||||
| Natural variant | 184 | 1 | E → K in MEN1. Ref.29 Ref.34 Ref.37 Ref.51 | VAR_039599 | |||||
| Natural variant | 184 | 1 | E → Q in MEN1. Ref.29 Ref.34 Ref.37 Ref.51 | VAR_039600 | |||||
| Natural variant | 186 | 1 | H → R in MEN1. Ref.51 | VAR_039601 | |||||
| Natural variant | 188 | 1 | W → R in MEN1 and parathyroid tumor. | VAR_039602 | |||||
| Natural variant | 188 | 1 | W → S in MEN1. Ref.10 Ref.12 Ref.27 | VAR_005444 | |||||
| Natural variant | 189 | 1 | V → E in FIHP. Ref.15 | VAR_005445 | |||||
| Natural variant | 220 | 1 | V → M in MEN1. Ref.35 Ref.51 | VAR_039603 | |||||
| Natural variant | 228 | 1 | L → P in MEN1. Ref.34 Ref.41 Ref.47 | VAR_005446 | |||||
| Natural variant | 230 | 1 | G → R in MEN1. Ref.27 | VAR_039604 | |||||
| Natural variant | 234 | 1 | R → L in MEN1. Ref.32 | VAR_039605 | |||||
| Natural variant | 245 | 1 | V → F in MEN1. Ref.41 | VAR_039606 | |||||
| Natural variant | 246 | 1 | C → F in MEN1. Ref.27 Ref.30 Ref.47 | VAR_039607 | |||||
| Natural variant | 246 | 1 | C → R in MEN1. Ref.27 Ref.30 Ref.47 | VAR_008018 | |||||
| Natural variant | 246 | 1 | C → Y in MEN1. Ref.27 Ref.30 Ref.47 | VAR_039608 | |||||
| Natural variant | 247 | 1 | A → V in MEN1. | VAR_005447 | |||||
| Natural variant | 258 | 1 | S → P in MEN1. Ref.27 | VAR_039609 | |||||
| Natural variant | 258 | 1 | S → W in parathyroid tumor. Ref.27 Ref.33 | VAR_039610 | |||||
| Natural variant | 260 | 1 | E → K in FIHP. Ref.14 | VAR_005448 | |||||
| Natural variant | 264 | 1 | L → R in MEN1. Ref.51 | VAR_039611 | |||||
| Natural variant | 265 | 1 | Q → P in FIHP. Ref.38 | VAR_039612 | |||||
| Natural variant | 266 | 1 | Q → QLQ in MEN1. | VAR_039613 | |||||
| Natural variant | 269 | 1 | L → P in MEN1. Ref.29 | VAR_005449 | |||||
| Natural variant | 272 | 1 | L → P in FIHP. Ref.29 | VAR_005450 | |||||
| Natural variant | 279 | 1 | E → A in parathyroid tumor. Ref.33 | VAR_039614 | |||||
| Natural variant | 282 | 1 | P → H in FIHP. Ref.44 | VAR_039615 | |||||
| Natural variant | 286 | 1 | G → R in MEN1. Ref.41 Ref.47 | VAR_039616 | |||||
| Natural variant | 289 | 1 | A → E in MEN1. Ref.12 | VAR_005451 | |||||
| Natural variant | 289 | 1 | A → P in parathyroid tumor. Ref.12 Ref.33 | VAR_039617 | |||||
| Natural variant | 291 | 1 | L → P in MEN1. | VAR_005452 | |||||
| Natural variant | 310 | 1 | G → D in FIHP. Ref.36 | VAR_039618 | |||||
| Natural variant | 314 | 1 | A → P in MEN1. | VAR_005453 | |||||
| Natural variant | 316 | 1 | T → P in MEN1. Ref.41 Ref.47 | VAR_039619 | |||||
| Natural variant | 319 | 1 | R → P in MEN1. Ref.41 | VAR_005454 | |||||
| Natural variant | 322 | 1 | H → R in MEN1. Ref.34 Ref.41 Ref.47 | VAR_039620 | |||||
| Natural variant | 322 | 1 | H → Y in MEN1. Ref.34 Ref.41 Ref.47 | VAR_039621 | |||||
| Natural variant | 325 | 1 | P → L in MEN1. Ref.19 Ref.51 | VAR_039622 | |||||
| Natural variant | 325 | 1 | P → R in MEN1. Ref.19 Ref.51 | VAR_039623 | |||||
| Natural variant | 330 | 1 | A → P in MEN1. Ref.46 | VAR_039624 | |||||
| Natural variant | 342 | 1 | A → D in MEN1. dbSNP rs2071312. Ref.34 Ref.41 | VAR_005455 | |||||
| Natural variant | 342 | 1 | A → P in MEN1. Ref.34 Ref.41 | VAR_039625 | |||||
| Natural variant | 346 | 1 | W → R in MEN1. Ref.41 | VAR_005456 | |||||
| Natural variant | 347 | 1 | A → P in MEN1. Ref.48 | VAR_039626 | |||||
| Natural variant | 349 | 1 | T → R in MEN1. Ref.35 | VAR_005457 | |||||
| Natural variant | 353 | 1 | I → N in MEN1. Ref.34 | VAR_039627 | |||||
| Natural variant | 358 | 1 | Y → D in MEN1. Ref.32 | VAR_039628 | |||||
| Natural variant | 360 | 1 | R → W in MEN1. Ref.51 | VAR_039629 | |||||
| Natural variant | 362 | 1 | D → H in MEN1. Ref.41 | VAR_039630 | |||||
| Natural variant | 364 | 1 | E → K in MEN1. Ref.22 | VAR_005458 | |||||
| Natural variant | 368 | 1 | Missing in MEN1. Ref.1 Ref.43 | VAR_005459 | |||||
| Natural variant | 373 | 1 | A → D in MEN1. Ref.41 | VAR_005460 | |||||
| Natural variant | 377 | 1 | I → M in MEN1. Ref.41 | VAR_039631 | |||||
| Natural variant | 378 | 1 | P → S in MEN1. Ref.32 | VAR_039632 | |||||
| Natural variant | 390 | 1 | A → V in MEN1. Ref.34 | VAR_039633 | |||||
| Natural variant | 416 | 1 | A → P in MEN1 and FIHP. | VAR_039634 | |||||
| Natural variant | 419 | 1 | L → P in MEN1. Ref.40 | VAR_039635 | |||||
| Natural variant | 420 | 1 | R → P in MEN1. Ref.32 | VAR_039636 | |||||
| Natural variant | 423 – 426 | 4 | Missing in MEN1. Ref.20 Ref.41 Ref.43 Ref.47 Ref.50 Ref.51 | VAR_005463 | |||||
| Natural variant | 423 | 1 | D → H in MEN1. Ref.20 Ref.41 Ref.43 Ref.47 Ref.50 | VAR_039637 | |||||
| Natural variant | 423 | 1 | D → N in MEN1. Ref.20 Ref.41 Ref.43 Ref.47 Ref.50 | VAR_005461 | |||||
| Natural variant | 423 | 1 | Missing in MEN1. Ref.20 Ref.41 Ref.43 Ref.47 Ref.50 | VAR_005462 | |||||
| Natural variant | 426 | 1 | C → Y in MEN1. Ref.51 | VAR_039638 | |||||
| Natural variant | 428 | 1 | W → S in MEN1. Ref.21 | VAR_039639 | |||||
| Natural variant | 432 | 1 | S → R in MEN1. Ref.18 | VAR_039640 | |||||
| Natural variant | 441 | 1 | W → C in MEN1. Ref.1 Ref.51 | VAR_039641 | |||||
| Natural variant | 441 | 1 | W → R in MEN1. Ref.1 Ref.51 | VAR_005464 | |||||
| Natural variant | 449 | 1 | L → P in MEN1. Ref.26 | VAR_039642 | |||||
| Natural variant | 452 | 1 | F → S in MEN1; sporadic; with Zollinger-Ellison syndrome. | VAR_005465 | |||||
| Natural variant | 532 | 1 | R → C in MEN1. Ref.41 | VAR_039643 | |||||
| Natural variant | 545 | 1 | P → S in MEN1. Ref.47 | VAR_039644 | |||||
| Natural variant | 546 | 1 | A → T: dbSNP rs2959656. Ref.19 Ref.20 Ref.27 Ref.29 Ref.49 | VAR_005466 | |||||
| Natural variant | 549 | 1 | P → S in MEN1. Ref.34 | VAR_039645 | |||||
| Natural variant | 557 | 1 | T → S in adrenal adenoma; somatic. Ref.28 | VAR_039646 | |||||
| Natural variant | 560 | 1 | S → N in MEN1. Ref.41 | VAR_005467 | |||||
| Natural variant | 560 | 1 | S → R in MEN1. Ref.41 | VAR_039647 | |||||
Sequences
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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. 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. 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. 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. 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. 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. | |
| IPI | IPI00182106. IPI00328838. IPI00651636. |
| RefSeq | NP_000235.2. NP_570711.1. NP_570712.1. NP_570713.1. NP_570714.1. NP_570715.1. NP_570716.1. |
| UniGene | Hs.423348 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP:24236N. |
| IntAct | O00255. 11 interactions. |
PTM databases | |
| PhosphoSite | O00255. |
Proteomic databases | |
| PRIDE | O00255. |
Genome annotation databases | |
| Ensembl | ENSG00000133895. Homo sapiens. [Contig view] |
| GeneID | 4221. |
| KEGG | hsa:4221. |
Organism-specific databases | |
| GeneCards | GC11M064327. |
| H-InvDB | HIX0009771. |
| HGNC | HGNC:7010. MEN1. |
| MIM | 131100. gene+phenotype. 145000. phenotype. |
| Orphanet | 99879. Hyperparathyroidism, familial, isolated (FIHPT). 2207. Hyperparathyroidism, primary, familial. 652. Multiple endocrine neoplasia type 1. 99877. Parathyroid adenoma. 913. Zollinger-Ellison syndrome. |
| PharmGKB | PA38241. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | O00255. |
| HOVERGEN | O00255. |
Gene expression databases | |
| Bgee | O00255. |
| CleanEx | HS_MEN1. HS_SCG2. |
| GermOnline | ENSG00000133895. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR007747. Menin. [Graphical view] |
| PANTHER | PTHR12693. Menin. 1 hit. |
| Pfam | PF05053. Menin. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 16643. |
| SOURCE | Search... |
Entry information
| Entry name | MEN1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O00255 Secondary accession number(s): O00632, Q9BUK2 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (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 |

Clusters with


