O00255 (MEN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Menin

Gene names

Name:	MEN1
Synonyms:	SCG2

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.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression. May be involved in normal hematopoiesis through the activation of HOXA9 expression By similarity. May be involved in DNA repair. Ref.6 Ref.7 Ref.8 Ref.9 Ref.11
Subunit structure	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. Interacts with POLR2A phosphorylated at 'Ser-5', but not with the unphosphorylated, nor 'Ser-2' phosphorylated POLR2A forms. Interacts with FANCD2 and DBF4. Interacts with JUND. Interacts with SMAD3, but not with SMAD2, nor SMAD4. Directly interacts with NFKB1, NFKB2 and RELA. Ref.5 Ref.6 Ref.7 Ref.8 Ref.10 Ref.11
Subcellular location	Nucleus. Note: Concentrated in nuclear body-like structures. Relocates to the nuclear matrix upon gamma irradiation. Ref.8
Tissue specificity	Ubiquitous.
Post-translational modification	Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.14 Ref.15 Ref.16 Ref.17
Involvement in disease	Defects in MEN1 are the cause of familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]. 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.3 Ref.5 Ref.11 Ref.18 Ref.19 Ref.21 Ref.22 Ref.25 Ref.26 Ref.27 Ref.28 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.34 Ref.35 Ref.36 Ref.37 Ref.39 Ref.40 Ref.41 Ref.42 Ref.44 Ref.45 Ref.47 Ref.49 Ref.50 Ref.51 Ref.52 Ref.53 Ref.55 Ref.56 Ref.57 Ref.58 Ref.59 Ref.61 Ref.62 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.23 Ref.24 Ref.39 Ref.46 Ref.48 Ref.54 Ref.55
Sequence caution	The sequence ABQ12624.1 differs from that shown. Reason: Frameshift at position 383. The frameshift is caused by a single nucleotide deletion which is found in a MEN1 kindred. The sequence ABQ12627.1 differs from that shown. Reason: Frameshift at position 97. The frameshift is caused by a single nucleotide deletion which is found in a MEN1 kindred.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Ligand	DNA-binding
Molecular function	Chromatin regulator Repressor
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	DNA repair Non-traceable author statement Ref.8. Source: UniProtKB MAPKKK cascade Inferred from direct assay. Source: UniProtKB histone lysine methylation Inferred from direct assay Ref.11. Source: GOC 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 phosphorylation Inferred from direct assay. Source: UniProtKB negative regulation of sequence-specific DNA binding transcription factor activity Inferred from direct assay Ref.6. Source: UniProtKB negative regulation of telomerase activity Inferred from mutant phenotype Ref.9. Source: UniProtKB negative regulation of transcription from RNA polymerase II promoter Inferred from direct assay Ref.5. Source: UniProtKB osteoblast development Inferred from genetic interaction. Source: MGI positive regulation of protein binding Inferred from direct assay. Source: UniProtKB positive regulation of transforming growth factor beta receptor signaling pathway Inferred from mutant phenotype Ref.7. Source: UniProtKB response to UV Inferred from direct assay. Source: UniProtKB response to gamma radiation Inferred from direct assay Ref.8. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	chromatin Inferred from direct assay Ref.8. Source: UniProtKB cleavage furrow Inferred from direct assay. Source: UniProtKB cytosol Inferred from direct assay. Source: UniProtKB histone methyltransferase complex Inferred from direct assay Ref.13. Source: MGI nuclear matrix Inferred from direct assay Ref.8. Source: UniProtKB soluble fraction Inferred from direct assay Ref.8. Source: UniProtKB
Molecular function	R-SMAD binding Inferred from physical interaction Ref.7. Source: BHF-UCL 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 Ref.6. Source: UniProtKB protein binding, bridging Inferred from direct assay. Source: UniProtKB transcription regulatory region DNA binding Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
FANCD2	Q9BXW9	4	EBI-592789,EBI-359343
MYH9	P35579	7	EBI-592789,EBI-350338
Nme1	Q05982	5	EBI-592789,EBI-1165329	From a different organism.

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.14
	Modified residue	548	1	Phosphoserine Ref.16 Ref.17
	Modified residue	599	1	Phosphothreonine Ref.15
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; no effect on histone methylation; almost no effect on JUND-binding. Ref.5 Ref.11		VAR_005425
	Natural variant	22	1	L → R in MEN1; no effect on histone methylation; almost no effect on JUND-binding; no repression of JUND transactivation. Ref.1 Ref.5 Ref.11		VAR_005426
	Natural variant	26	1	E → K in parathyroid adenoma and MEN1. Ref.20 Ref.25 Corresponds to variant rs28931612 [ dbSNP | Ensembl ].		VAR_005427
	Natural variant	39	1	L → W in MEN1. Ref.39 Ref.44 Ref.51		VAR_005428
	Natural variant	42	1	G → D in MEN1. Ref.21 Ref.51		VAR_005429
	Natural variant	45	1	E → G in MEN1. Ref.34		VAR_005430
	Natural variant	45	1	E → K in MEN1. Ref.45 Ref.59		VAR_039587
	Natural variant	89 – 95	7	Missing in MEN1.		VAR_065152
	Natural variant	98	1	R → L in MEN1. Ref.51		VAR_039588
	Natural variant	110	1	G → E in MEN1. Ref.61		VAR_039589
	Natural variant	119	1	Missing in MEN1.		VAR_005431
	Natural variant	135	1	K → I in MEN1. Ref.32		VAR_005434
	Natural variant	139	1	H → D in MEN1; almost complete loss of histone methylation; strong decrease in JUND-binding; no repression of JUND transactivation. Ref.5 Ref.11 Ref.30 Ref.49		VAR_005432
	Natural variant	139	1	H → P in MEN1. Ref.59		VAR_039590
	Natural variant	139	1	H → R in MEN1. Ref.35		VAR_039591
	Natural variant	139	1	H → Y in MEN1; familial and sporadic cases; almost no effect on JUND-binding; no repression of JUND transactivation. Ref.5		VAR_005433
	Natural variant	144	1	F → V in MEN1. Ref.62		VAR_005436
	Natural variant	147	1	I → F in MEN1. Ref.3		VAR_065153
	Natural variant	157	1	L → W in parathyroid tumors; somatic. Ref.30		VAR_065154
	Natural variant	158	1	D → V in MEN1 and FIHP. Ref.55		VAR_039592
	Natural variant	159	1	S → I in MEN1. Ref.53		VAR_039593
	Natural variant	160	1	S → F in MEN1. Ref.41		VAR_039594
	Natural variant	161	1	G → D in MEN1 and parathyroid tumor. Ref.40 Ref.43 Ref.62		VAR_008017
	Natural variant	165	1	A → P in MEN1; strong decrease in JUND-binding. Ref.5 Ref.21 Ref.51		VAR_005437
	Natural variant	165	1	A → T in MEN1. Ref.51		VAR_039595
	Natural variant	167	1	V → F in MEN1. Ref.51		VAR_039596
	Natural variant	169	1	A → D in MEN1. Ref.21 Ref.51		VAR_005438
	Natural variant	170	1	C → R in MEN1. Ref.51 Ref.57		VAR_039597
	Natural variant	171 – 173	3	Missing in MEN1.		VAR_005439
	Natural variant	173	1	L → P in MEN1. Ref.25		VAR_039598
	Natural variant	176	1	R → Q. Ref.1 Ref.19 Ref.29 Ref.39 Ref.59 Ref.60 Corresponds to variant rs607969 [ dbSNP | Ensembl ].		VAR_005440
	Natural variant	177	1	D → Y in MEN1. Ref.39 Ref.51		VAR_005441
	Natural variant	181	1	A → P in MEN1; loss of JUND-binding. Ref.5		VAR_005442
	Natural variant	184	1	E → D in MEN1. Ref.39 Ref.62		VAR_005443
	Natural variant	184	1	E → K in MEN1. Ref.47 Ref.62		VAR_039599
	Natural variant	184	1	E → Q in MEN1. Ref.44		VAR_039600
	Natural variant	186	1	H → R in MEN1. Ref.62		VAR_039601
	Natural variant	188	1	W → R in MEN1 and parathyroid tumor. Ref.37 Ref.43		VAR_039602
	Natural variant	188	1	W → S in MEN1. Ref.19 Ref.21		VAR_005444
	Natural variant	189	1	V → E in FIHP. Ref.24		VAR_005445
	Natural variant	220	1	V → F Found in a parathyroid carcinoma sample; somatic mutation. Ref.63		VAR_064937
	Natural variant	220	1	V → M in MEN1. Ref.45 Ref.62		VAR_039603
	Natural variant	228	1	L → P in MEN1. Ref.44 Ref.51 Ref.57		VAR_005446
	Natural variant	230	1	G → R in MEN1. Ref.37		VAR_039604
	Natural variant	234	1	R → L in MEN1. Ref.42		VAR_039605
	Natural variant	245	1	V → F in MEN1. Ref.51		VAR_039606
	Natural variant	246	1	C → F in MEN1. Ref.57		VAR_039607
	Natural variant	246	1	C → R in MEN1. Ref.40		VAR_008018
	Natural variant	246	1	C → Y in MEN1. Ref.37		VAR_039608
	Natural variant	247	1	A → V in MEN1; almost complete loss of histone methylation; loss of JUND-binding; no repression of JUND transactivation. Ref.5 Ref.11		VAR_005447
	Natural variant	258	1	S → P in MEN1. Ref.37		VAR_039609
	Natural variant	258	1	S → W in parathyroid tumor. Ref.43		VAR_039610
	Natural variant	260	1	E → K in FIHP. Ref.23		VAR_005448
	Natural variant	264	1	L → R in MEN1. Ref.62		VAR_039611
	Natural variant	265	1	Q → P in FIHP. Ref.48		VAR_039612
	Natural variant	266	1	Q → QLQ in MEN1.		VAR_039613
	Natural variant	269	1	L → P in MEN1. Ref.39		VAR_005449
	Natural variant	272	1	L → P in FIHP. Ref.39		VAR_005450
	Natural variant	279	1	E → A in parathyroid tumor. Ref.43		VAR_039614
	Natural variant	282	1	P → H in FIHP. Ref.54		VAR_039615
	Natural variant	286	1	G → R in MEN1. Ref.51 Ref.57		VAR_039616
	Natural variant	289	1	A → E in MEN1. Ref.21		VAR_005451
	Natural variant	289	1	A → P in parathyroid tumor. Ref.43		VAR_039617
	Natural variant	291	1	L → P in MEN1; almost no effect on JUND-binding. Ref.5		VAR_005452
	Natural variant	310	1	G → D in FIHP. Ref.46		VAR_039618
	Natural variant	314	1	A → P in MEN1; no effect on histone methylation; almost no effect on JUND-binding. Ref.5 Ref.11		VAR_005453
	Natural variant	316	1	T → P in MEN1. Ref.51 Ref.57		VAR_039619
	Natural variant	319	1	R → P in MEN1. Ref.51		VAR_005454
	Natural variant	322	1	H → R in MEN1. Ref.44 Ref.51		VAR_039620
	Natural variant	322	1	H → Y in MEN1. Ref.51 Ref.57		VAR_039621
	Natural variant	325	1	P → L in MEN1. Ref.28		VAR_039622
	Natural variant	325	1	P → R in MEN1. Ref.62		VAR_039623
	Natural variant	330	1	A → P in MEN1. Ref.56		VAR_039624
	Natural variant	342	1	A → D in MEN1. Ref.51 Corresponds to variant rs2071312 [ dbSNP | Ensembl ].		VAR_005455
	Natural variant	342	1	A → P in MEN1. Ref.44		VAR_039625
	Natural variant	346	1	W → R in MEN1. Ref.51		VAR_005456
	Natural variant	347	1	A → P in MEN1. Ref.58		VAR_039626
	Natural variant	349	1	T → R in MEN1; almost complete loss of histone methylation; almost no effect on JUND-binding. Ref.5 Ref.11 Ref.45		VAR_005457
	Natural variant	353	1	I → N in MEN1. Ref.44		VAR_039627
	Natural variant	358	1	Y → D in MEN1. Ref.42		VAR_039628
	Natural variant	360	1	R → W in MEN1. Ref.62		VAR_039629
	Natural variant	362	1	D → H in MEN1. Ref.51		VAR_039630
	Natural variant	364	1	E → K in MEN1. Ref.32		VAR_005458
	Natural variant	368	1	Missing in MEN1.		VAR_005459
	Natural variant	373	1	A → D in MEN1. Ref.51		VAR_005460
	Natural variant	377	1	I → M in MEN1. Ref.51		VAR_039631
	Natural variant	378	1	P → S in MEN1. Ref.42		VAR_039632
	Natural variant	390	1	A → V in MEN1. Ref.44		VAR_039633
	Natural variant	416	1	A → P in MEN1 and FIHP. Ref.55		VAR_039634
	Natural variant	418	1	L → R in MEN1. Ref.3		VAR_065155
	Natural variant	419	1	L → P in MEN1. Ref.3 Ref.50		VAR_039635
	Natural variant	420	1	R → P in MEN1. Ref.42		VAR_039636
	Natural variant	423 – 426	4	Missing in MEN1.		VAR_005463
	Natural variant	423	1	D → H in MEN1. Ref.61		VAR_039637
	Natural variant	423	1	D → N in MEN1. Ref.29 Ref.51 Ref.53 Ref.57		VAR_005461
	Natural variant	423	1	Missing in MEN1.		VAR_005462
	Natural variant	426	1	C → Y in MEN1. Ref.62		VAR_039638
	Natural variant	428	1	W → S in MEN1. Ref.31		VAR_039639
	Natural variant	432	1	S → R in MEN1. Ref.27		VAR_039640
	Natural variant	441	1	W → C in MEN1. Ref.62		VAR_039641
	Natural variant	441	1	W → R in MEN1; no effect on histone methylation; almost no effect on JUND-binding; modest repression of JUND transactivation. Ref.1 Ref.5 Ref.11 Ref.62		VAR_005464
	Natural variant	449	1	L → P in MEN1. Ref.36		VAR_039642
	Natural variant	452	1	F → S in MEN1; sporadic; with Zollinger-Ellison syndrome.		VAR_005465
	Natural variant	476	1	W → C in MEN1. Ref.3		VAR_065156
	Natural variant	532	1	R → C in MEN1. Ref.51		VAR_039643
	Natural variant	545	1	P → S in MEN1. Ref.57		VAR_039644
	Natural variant	546	1	T → A. Ref.1 Ref.3 Ref.4 Ref.28 Ref.29 Ref.37 Ref.39 Ref.59 Corresponds to variant rs2959656 [ dbSNP | Ensembl ].		VAR_005466
	Natural variant	549	1	P → S in MEN1. Ref.44		VAR_039645
	Natural variant	557	1	T → S in adrenal adenoma; somatic. Ref.38		VAR_039646
	Natural variant	560	1	S → N in MEN1. Ref.51		VAR_005467
	Natural variant	560	1	S → R in MEN1. Ref.51		VAR_039647

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Long) [UniParc]. Last modified January 11, 2011. Version 4. Checksum: DDDF850EA5AB77B4	FASTA	615	68,023
	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 QVPAPTASPP PEGPVLTFQS EKMKGMKELL VATKINSSAI KLQLTAQSQV QMKKQKVSTP 610 SDYTLSFLKR QRKGL
	Isoform 2 (Short) [UniParc]. Checksum: 9BF844C0302B43EF	FASTA	610	67,497
	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 QSLFSFITGT KLDSSGVAFA VVGACQALGL RDVHLALSED 190 200 210 220 230 240 HAWVVFGPNG EQTAEVTWHG KGNEDRRGQT VNAGVAERSW LYLKGSYMRC DRKMEVAFMV 250 260 270 280 290 300 CAINPSIDLH TDSLELLQLQ QKLLWLLYDL GHLERYPMAL GNLADLEELE PTPGRPDPLT 310 320 330 340 350 360 LYHKGIASAK TYYRDEHIYP YMYLAGYHCR NRNVREALQA WADTATVIQD YNYCREDEEI 370 380 390 400 410 420 YKEFFEVAND VIPNLLKEAA SLLEAGEERP GEQSQGTQSQ GSALQDPECF AHLLRFYDGI 430 440 450 460 470 480 CKWEEGSPTP VLHVGWATFL VQSLGRFEGQ VRQKVRIVSR EAEAAEAEEP WGEEAREGRR 490 500 510 520 530 540 RGPRRESKPE EPPPPKKPAL DKGLGTGQGA VSGPPRKPPG TVAGTARGPE GGSTAQVPAP 550 560 570 580 590 600 TASPPPEGPV LTFQSEKMKG MKELLVATKI NSSAIKLQLT AQSQVQMKKQ KVSTPSDYTL 610 SFLKRQRKGL
	Isoform 3 [UniParc]. Checksum: 3A06BE24447818A3	FASTA	575	63,748
	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 QSLFSFITGT KLDSSGVAFA VVGACQALGL RDVHLALSED 190 200 210 220 230 240 HAWSWLYLKG SYMRCDRKME VAFMVCAINP SIDLHTDSLE LLQLQQKLLW LLYDLGHLER 250 260 270 280 290 300 YPMALGNLAD LEELEPTPGR PDPLTLYHKG IASAKTYYRD EHIYPYMYLA GYHCRNRNVR 310 320 330 340 350 360 EALQAWADTA TVIQDYNYCR EDEEIYKEFF EVANDVIPNL LKEAASLLEA GEERPGEQSQ 370 380 390 400 410 420 GTQSQGSALQ DPECFAHLLR FYDGICKWEE GSPTPVLHVG WATFLVQSLG RFEGQVRQKV 430 440 450 460 470 480 RIVSREAEAA EAEEPWGEEA REGRRRGPRR ESKPEEPPPP KKPALDKGLG TGQGAVSGPP 490 500 510 520 530 540 RKPPGTVAGT ARGPEGGSTA QVPAPTASPP PEGPVLTFQS EKMKGMKELL VATKINSSAI 550 560 570 KLQLTAQSQV QMKKQKVSTP SDYTLSFLKR QRKGL

References

	« Hide 'large scale' referencesShow '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. , 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, VARIANTS GLN-176 AND ALA-546. Tissue: Leukocyte.
[2]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed: 16554811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1." Toledo R.A., Lourenco D.M., Coutinho F.L., Quedas E., Mackowiack I., Machado M.C., Montenegro F., Cunha-Neto M.B., Liberman B., Pereira M.A., Correa P.H., Toledo S.P. Clin. Endocrinol. (Oxf.) 67:377-384(2007) [PubMed: 17555499] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2), VARIANTS MEN1 89-LEU--ALA-95 DEL; PHE-147; ARG-418; PRO-419 AND CYS-476, VARIANT ALA-546.
[4]	"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), VARIANT ALA-546. Tissue: Placenta and Uterus.
[5]	"Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription." Agarwal S.K., Guru S.C., Heppner C., Erdos M.R., Collins R.M., Park S.Y., Saggar S., Chandrasekharappa S.C., Collins F.S., Spiegel A.M., Marx S.J., Burns A.L. Cell 96:143-152(1999) [PubMed: 9989505] [Abstract] Cited for: INTERACTION WITH JUND, VARIANTS MEN1 LEU-12; ARG-22; ASP-139; TYR-139; PRO-165; PRO-181; VAL-247; PRO-291; PRO-314; ARG-349 AND ARG-441.
[6]	"The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation." Heppner C., Bilimoria K.Y., Agarwal S.K., Kester M., Whitty L.J., Guru S.C., Chandrasekharappa S.C., Collins F.S., Spiegel A.M., Marx S.J., Burns A.L. Oncogene 20:4917-4925(2001) [PubMed: 11526476] [Abstract] Cited for: FUNCTION, INTERACTION WITH NFKB1; NFKB2 AND RELA.
[7]	"Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling." Kaji H., Canaff L., Lebrun J.J., Goltzman D., Hendy G.N. Proc. Natl. Acad. Sci. U.S.A. 98:3837-3842(2001) [PubMed: 11274402] [Abstract] Cited for: FUNCTION, INTERACTION WITH SMAD3.
[8]	"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.
[9]	"Multiple tumor suppressor pathways negatively regulate telomerase." Lin S.Y., Elledge S.J. Cell 113:881-889(2003) [PubMed: 12837246] [Abstract] Cited for: FUNCTION IN TERT REPRESSION.
[10]	"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.
[11]	"Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus." Hughes C.M., Rozenblatt-Rosen O., Milne T.A., Copeland T.D., Levine S.S., Lee J.C., Hayes D.N., Shanmugam K.S., Bhattacharjee A., Biondi C.A., Kay G.F., Hayward N.K., Hess J.L., Meyerson M. Mol. Cell 13:587-597(2004) [PubMed: 14992727] [Abstract] Cited for: FUNCTION IN H3K4 METHYLATION, INTERACTION WITH ASHL2; MLL2; POLR2A; POLR2B; RBBP5 AND WDR5, VARIANTS MEN1 LEU-12; ARG-22; ASP-139; VAL-247; PRO-314; ARG-349 AND ARG-441.
[12]	"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.
[13]	"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.
[14]	"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. Tissue: Embryonic kidney.
[15]	"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. Tissue: Cervix carcinoma.
[16]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-548, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[17]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-548, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[18]	"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.
[19]	"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. , 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.
[20]	"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. , 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.
[21]	"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.
[22]	"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. , 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.
[23]	"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.
[24]	"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.
[25]	"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.
[26]	"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.
[27]	"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.
[28]	"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 ALA-546.
[29]	"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. , 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 ALA-546.
[30]	"Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism." Carling T., Correa P., Hessman O., Hedberg J., Skogseid B., Lindberg D., Rastad J., Westin G., Akerstrom G. J. Clin. Endocrinol. Metab. 83:2960-2963(1998) [PubMed: 9709976] [Abstract] Cited for: VARIANT MEN1 ASP-139, VARIANT TRP-157.
[31]	"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.
[32]	"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.
[33]	"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.
[34]	"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.
[35]	"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.
[36]	"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.
[37]	"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 ALA-546.
[38]	"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.
[39]	"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 ALA-546.
[40]	"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.
[41]	"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.
[42]	"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.
[43]	"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.
[44]	"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.
[45]	"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.
[46]	"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.
[47]	"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.
[48]	"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.
[49]	"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.
[50]	"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.
[51]	"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.
[52]	"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.
[53]	"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.
[54]	"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.
[55]	"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 MEN1 AND FIHP VAL-158 AND PRO-416.
[56]	"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.
[57]	"Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis." Groupe d'etude des neoplasies endocriniennes 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.
[58]	"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.
[59]	"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 ALA-546.
[60]	"Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene." Balogh K., Patocs A., Majnik J., Varga F., Illyes G., Hunyady L., Racz K. J. Hum. Genet. 49:380-386(2004) [PubMed: 15205994] [Abstract] Cited for: VARIANT GLN-176.
[61]	"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.
[62]	"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.
[63]	"Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas." Haven C.J., van Puijenbroek M., Tan M.H., Teh B.T., Fleuren G.J., van Wezel T., Morreau H. Clin. Endocrinol. (Oxf.) 67:370-376(2007) [PubMed: 17555500] [Abstract] Cited for: VARIANT PHE-220, ASSOCIATION WITH PARATHYROID CARCINOMA.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	U93236 mRNA. Translation: AAC51228.1. U93237 Genomic DNA. Translation: AAC51229.1. U93237 Genomic DNA. Translation: AAC51230.1. AP001462 Genomic DNA. No translation available. EF443091 Genomic DNA. Translation: ABQ12621.1. EF443092 Genomic DNA. Translation: ABQ12622.1. EF443093 Genomic DNA. Translation: ABQ12623.1. EF443094 Genomic DNA. Translation: ABQ12624.1. Frameshift. EF443095 Genomic DNA. Translation: ABQ12625.1. EF443096 Genomic DNA. Translation: ABQ12626.1. EF443097 Genomic DNA. Translation: ABQ12627.1. Frameshift. BC002544 mRNA. Translation: AAH02544.1. BC002664 mRNA. Translation: AAH02664.2.
IPI	IPI00182106. IPI00328838. IPI00651636.
RefSeq	NP_000235.2. NM_000244.3. NP_570711.1. NM_130799.2. NP_570712.1. NM_130800.2. NP_570713.1. NM_130801.2. NP_570714.1. NM_130802.2. NP_570715.1. NM_130803.2. NP_570716.1. NM_130804.2.
UniGene	Hs.423348.
3D structure databases
ProteinModelPortal	O00255.
SMR	O00255. Positions 10-586.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-24236N.
IntAct	O00255. 9 interactions.
STRING	O00255.
PTM databases
PhosphoSite	O00255.
Proteomic databases
PRIDE	O00255.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000337652; ENSP00000337088; ENSG00000133895. ENST00000377313; ENSP00000366530; ENSG00000133895. ENST00000394373; ENSP00000377898; ENSG00000133895. ENST00000394374; ENSP00000377899; ENSG00000133895. ENST00000394376; ENSP00000377901; ENSG00000133895. ENST00000443283; ENSP00000396940; ENSG00000133895. ENST00000449150; ENSP00000405336; ENSG00000133895.
GeneID	4221.
KEGG	hsa:4221.
UCSC	uc001obj.1. human. uc001obl.1. human. uc001obm.1. human.
Organism-specific databases
CTD	4221.
GeneCards	GC11M064570.
HGNC	HGNC:7010. MEN1.
HPA	HPA030342.
MIM	131100. phenotype. 145000. phenotype. 613733. gene.
neXtProt	NX_O00255.
Orphanet	99879. Familial isolated hyperparathyroidism. 99877. Familial parathyroid adenoma. 652. Multiple endocrine neoplasia type 1. 913. Zollinger-Ellison syndrome.
PharmGKB	PA30746.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19429.
HOGENOM	HBG282678.
HOVERGEN	HBG000208.
InParanoid	O00255.
OMA	PYMYLAG.
OrthoDB	EOG4HT8RX.
PhylomeDB	O00255.
Gene expression databases
ArrayExpress	O00255.
Bgee	O00255.
CleanEx	HS_MEN1. HS_SCG2.
Genevestigator	O00255.
GermOnline	ENSG00000133895. Homo sapiens.
Family and domain databases
InterPro	IPR007747. Menin. [Graphical view]
KO	K14970.
PANTHER	PTHR12693. Menin. 1 hit.
Pfam	PF05053. Menin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	16643.
SOURCE	Search...

Entry information

Entry name

MEN1_HUMAN

Accession

Primary (citable) accession number: O00255
Secondary accession number(s): A5HBC6 , A5HBC7, A5HBC8, A5HBC9, A5HBD0, A5HBD1, A5HBD2, O00632, Q9BUF0, Q9BUK2

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 15, 1998
Last sequence update:	January 11, 2011
Last modified:	January 25, 2012
This is version 115 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.