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Protein

Menin

Gene

MEN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.By similarity5 Publications

GO - Molecular functioni

  • chromatin binding Source: GO_Central
  • double-stranded DNA binding Source: UniProtKB
  • four-way junction DNA binding Source: UniProtKB
  • protein binding, bridging Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB
  • R-SMAD binding Source: BHF-UCL
  • transcription regulatory region DNA binding Source: UniProtKB
  • Y-form DNA binding Source: UniProtKB

GO - Biological processi

  • beta-catenin-TCF complex assembly Source: Reactome
  • brain development Source: Ensembl
  • cellular response to DNA damage stimulus Source: UniProtKB
  • cellular response to glucose stimulus Source: Ensembl
  • cellular response to peptide hormone stimulus Source: Ensembl
  • decidualization Source: Ensembl
  • DNA repair Source: UniProtKB
  • histone lysine methylation Source: GOC
  • MAPK cascade Source: UniProtKB
  • mitotic cell cycle Source: Ensembl
  • negative regulation of cell cycle Source: UniProtKB
  • negative regulation of cell cycle G1/S phase transition Source: Ensembl
  • negative regulation of cell proliferation Source: UniProtKB
  • negative regulation of cell-substrate adhesion Source: Ensembl
  • negative regulation of cyclin-dependent protein serine/threonine kinase activity Source: UniProtKB
  • negative regulation of epithelial cell proliferation Source: Ensembl
  • negative regulation of JNK cascade Source: UniProtKB
  • negative regulation of osteoblast differentiation Source: MGI
  • negative regulation of protein phosphorylation Source: UniProtKB
  • negative regulation of sequence-specific DNA binding transcription factor activity Source: UniProtKB
  • negative regulation of telomerase activity Source: UniProtKB
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • osteoblast development Source: MGI
  • positive regulation of protein binding Source: UniProtKB
  • positive regulation of transcription from RNA polymerase II promoter Source: Reactome
  • positive regulation of transforming growth factor beta receptor signaling pathway Source: UniProtKB
  • regulation of activin receptor signaling pathway Source: Ensembl
  • regulation of type B pancreatic cell proliferation Source: Ensembl
  • response to gamma radiation Source: UniProtKB
  • response to transforming growth factor beta Source: Ensembl
  • response to UV Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW
  • type B pancreatic cell differentiation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000133895-MONOMER.
ReactomeiR-HSA-201722. Formation of the beta-catenin:TCF transactivating complex.
R-HSA-2173796. SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription.
R-HSA-3769402. Deactivation of the beta-catenin transactivating complex.
R-HSA-5626467. RHO GTPases activate IQGAPs.
SIGNORiO00255.

Names & Taxonomyi

Protein namesi
Recommended name:
Menin
Gene namesi
Name:MEN1
Synonyms:SCG2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:7010. MEN1.

Subcellular locationi

  • Nucleus 1 Publication

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

GO - Cellular componenti

  • chromatin Source: UniProtKB
  • cleavage furrow Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • cytosol Source: UniProtKB
  • histone methyltransferase complex Source: MGI
  • nuclear chromatin Source: BHF-UCL
  • nuclear chromosome, telomeric region Source: BHF-UCL
  • nuclear matrix Source: UniProtKB
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
  • protein complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Familial multiple endocrine neoplasia type I (MEN1)39 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal 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.
See also OMIM:131100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00542512P → L in MEN1; no effect on histone methylation; almost no effect on JUND-binding. 2 PublicationsCorresponds to variant rs794728614dbSNPEnsembl.1
Natural variantiVAR_00542622L → R in MEN1; no effect on histone methylation; almost no effect on JUND-binding; no repression of JUND transactivation. 3 PublicationsCorresponds to variant rs104894256dbSNPEnsembl.1
Natural variantiVAR_00542726E → K in parathyroid adenoma and MEN1. 2 PublicationsCorresponds to variant rs28931612dbSNPEnsembl.1
Natural variantiVAR_00542839L → W in MEN1. 3 Publications1
Natural variantiVAR_00542942G → D in MEN1. 2 Publications1
Natural variantiVAR_00543045E → G in MEN1. 1 Publication1
Natural variantiVAR_03958745E → K in MEN1. 2 Publications1
Natural variantiVAR_06515289 – 95Missing in MEN1. 1 Publication7
Natural variantiVAR_03958898R → L in MEN1. 1 Publication1
Natural variantiVAR_039589110G → E in MEN1. 1 Publication1
Natural variantiVAR_005431119Missing in MEN1. 4 Publications1
Natural variantiVAR_005434135K → I in MEN1. 1 Publication1
Natural variantiVAR_005432139H → D in MEN1; almost complete loss of histone methylation; strong decrease in JUND-binding; no repression of JUND transactivation. 4 PublicationsCorresponds to variant rs104894263dbSNPEnsembl.1
Natural variantiVAR_039590139H → P in MEN1. 1 Publication1
Natural variantiVAR_039591139H → R in MEN1. 1 Publication1
Natural variantiVAR_005433139H → Y in MEN1; familial and sporadic cases; almost no effect on JUND-binding; no repression of JUND transactivation. 1 Publication1
Natural variantiVAR_005436144F → V in MEN1. 1 Publication1
Natural variantiVAR_065153147I → F in MEN1. 1 Publication1
Natural variantiVAR_039592158D → V in MEN1 and FIHP. 1 Publication1
Natural variantiVAR_039593159S → I in MEN1. 1 Publication1
Natural variantiVAR_039594160S → F in MEN1. 1 Publication1
Natural variantiVAR_008017161G → D in MEN1 and parathyroid tumor. 3 Publications1
Natural variantiVAR_005437165A → P in MEN1; strong decrease in JUND-binding. 3 Publications1
Natural variantiVAR_039595165A → T in MEN1. 1 Publication1
Natural variantiVAR_039596167V → F in MEN1. 1 Publication1
Natural variantiVAR_005438169A → D in MEN1. 2 Publications1
Natural variantiVAR_039597170C → R in MEN1. 2 Publications1
Natural variantiVAR_005439171 – 173Missing in MEN1. 1 Publication3
Natural variantiVAR_039598173L → P in MEN1. 1 PublicationCorresponds to variant rs386134256dbSNPEnsembl.1
Natural variantiVAR_005441177D → Y in MEN1. 2 Publications1
Natural variantiVAR_005442181A → P in MEN1; loss of JUND-binding. 1 Publication1
Natural variantiVAR_005443184E → D in MEN1. 2 Publications1
Natural variantiVAR_039599184E → K in MEN1. 2 Publications1
Natural variantiVAR_039600184E → Q in MEN1. 1 Publication1
Natural variantiVAR_039601186H → R in MEN1. 1 Publication1
Natural variantiVAR_039602188W → R in MEN1 and parathyroid tumor. 2 PublicationsCorresponds to variant rs794728649dbSNPEnsembl.1
Natural variantiVAR_005444188W → S in MEN1. 2 Publications1
Natural variantiVAR_039603220V → M in MEN1. 2 PublicationsCorresponds to variant rs794728621dbSNPEnsembl.1
Natural variantiVAR_005446228L → P in MEN1. 3 Publications1
Natural variantiVAR_039604230G → R in MEN1. 1 Publication1
Natural variantiVAR_039605234R → L in MEN1. 1 Publication1
Natural variantiVAR_039606245V → F in MEN1. 1 Publication1
Natural variantiVAR_039607246C → F in MEN1. 1 Publication1
Natural variantiVAR_008018246C → R in MEN1. 1 Publication1
Natural variantiVAR_039608246C → Y in MEN1. 1 PublicationCorresponds to variant rs794728624dbSNPEnsembl.1
Natural variantiVAR_005447247A → V in MEN1; almost complete loss of histone methylation; loss of JUND-binding; no repression of JUND transactivation. 2 Publications1
Natural variantiVAR_039609258S → P in MEN1. 1 Publication1
Natural variantiVAR_039611264L → R in MEN1. 1 Publication1
Natural variantiVAR_039613266Q → QLQ in MEN1. 1 Publication1
Natural variantiVAR_005449269L → P in MEN1. 1 Publication1
Natural variantiVAR_039616286G → R in MEN1. 2 Publications1
Natural variantiVAR_005451289A → E in MEN1. 1 Publication1
Natural variantiVAR_005452291L → P in MEN1; almost no effect on JUND-binding. 1 Publication1
Natural variantiVAR_005453314A → P in MEN1; no effect on histone methylation; almost no effect on JUND-binding. 2 Publications1
Natural variantiVAR_039619316T → P in MEN1. 2 Publications1
Natural variantiVAR_005454319R → P in MEN1. 1 Publication1
Natural variantiVAR_039620322H → R in MEN1. 2 Publications1
Natural variantiVAR_039621322H → Y in MEN1. 2 Publications1
Natural variantiVAR_039622325P → L in MEN1. 1 Publication1
Natural variantiVAR_039623325P → R in MEN1. 1 Publication1
Natural variantiVAR_039624330A → P in MEN1. 1 Publication1
Natural variantiVAR_005455342A → D in MEN1. 1 PublicationCorresponds to variant rs2071312dbSNPEnsembl.1
Natural variantiVAR_039625342A → P in MEN1. 1 Publication1
Natural variantiVAR_005456346W → R in MEN1. 1 Publication1
Natural variantiVAR_039626347A → P in MEN1. 1 Publication1
Natural variantiVAR_005457349T → R in MEN1; almost complete loss of histone methylation; almost no effect on JUND-binding. 3 Publications1
Natural variantiVAR_039627353I → N in MEN1. 1 Publication1
Natural variantiVAR_039628358Y → D in MEN1. 1 Publication1
Natural variantiVAR_039629360R → W in MEN1. 1 Publication1
Natural variantiVAR_039630362D → H in MEN1. 1 Publication1
Natural variantiVAR_005458364E → K in MEN1. 1 PublicationCorresponds to variant rs387906552dbSNPEnsembl.1
Natural variantiVAR_005459368Missing in MEN1. 2 Publications1
Natural variantiVAR_005460373A → D in MEN1. 1 Publication1
Natural variantiVAR_039631377I → M in MEN1. 1 Publication1
Natural variantiVAR_039632378P → S in MEN1. 1 Publication1
Natural variantiVAR_039633390A → V in MEN1. 1 Publication1
Natural variantiVAR_039634416A → P in MEN1 and FIHP. 1 Publication1
Natural variantiVAR_065155418L → R in MEN1. 1 Publication1
Natural variantiVAR_039635419L → P in MEN1. 2 Publications1
Natural variantiVAR_039636420R → P in MEN1. 1 Publication1
Natural variantiVAR_005463423 – 426Missing in MEN1. 4
Natural variantiVAR_039637423D → H in MEN1. 1 Publication1
Natural variantiVAR_005461423D → N in MEN1. 4 PublicationsCorresponds to variant rs104894264dbSNPEnsembl.1
Natural variantiVAR_005462423Missing in MEN1. 1
Natural variantiVAR_039638426C → Y in MEN1. 1 PublicationCorresponds to variant rs386134249dbSNPEnsembl.1
Natural variantiVAR_039639428W → S in MEN1. 1 Publication1
Natural variantiVAR_039640432S → R in MEN1. 1 Publication1
Natural variantiVAR_039641441W → C in MEN1. 1 PublicationCorresponds to variant rs398124435dbSNPEnsembl.1
Natural variantiVAR_005464441W → R in MEN1; no effect on histone methylation; almost no effect on JUND-binding; modest repression of JUND transactivation. 4 PublicationsCorresponds to variant rs104894259dbSNPEnsembl.1
Natural variantiVAR_039642449L → P in MEN1. 1 Publication1
Natural variantiVAR_005465452F → S in MEN1; sporadic; with Zollinger-Ellison syndrome. 1
Natural variantiVAR_065156476W → C in MEN1. 1 Publication1
Natural variantiVAR_039643532R → C in MEN1. 1 Publication1
Natural variantiVAR_039644545P → S in MEN1. 1 PublicationCorresponds to variant rs745404679dbSNPEnsembl.1
Natural variantiVAR_039645549P → S in MEN1. 1 Publication1
Natural variantiVAR_005467560S → N in MEN1. 1 Publication1
Natural variantiVAR_039647560S → R in MEN1. 1 Publication1
Familial isolated hyperparathyroidism (FIHP)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors.
See also OMIM:145000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039592158D → V in MEN1 and FIHP. 1 Publication1
Natural variantiVAR_005445189V → E in FIHP. 1 PublicationCorresponds to variant rs104894262dbSNPEnsembl.1
Natural variantiVAR_005448260E → K in FIHP. 1 PublicationCorresponds to variant rs104894268dbSNPEnsembl.1
Natural variantiVAR_039612265Q → P in FIHP. 1 Publication1
Natural variantiVAR_005450272L → P in FIHP. 1 Publication1
Natural variantiVAR_039615282P → H in FIHP. 1 Publication1
Natural variantiVAR_039618310G → D in FIHP. 1 Publication1
Natural variantiVAR_039634416A → P in MEN1 and FIHP. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi4221.
MalaCardsiMEN1.
MIMi131100. phenotype.
145000. phenotype.
OpenTargetsiENSG00000133895.
Orphaneti99879. Familial isolated hyperparathyroidism.
99877. Familial parathyroid adenoma.
652. Multiple endocrine neoplasia type 1.
PharmGKBiPA30746.

Chemistry databases

ChEMBLiCHEMBL1615381.

Polymorphism and mutation databases

BioMutaiMEN1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000964111 – 615MeninAdd BLAST615

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei492PhosphoserineCombined sources1
Modified residuei548PhosphoserineCombined sources1
Modified residuei599PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO00255.
MaxQBiO00255.
PaxDbiO00255.
PeptideAtlasiO00255.
PRIDEiO00255.

PTM databases

iPTMnetiO00255.
PhosphoSitePlusiO00255.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000133895.
CleanExiHS_MEN1.
HS_SCG2.
ExpressionAtlasiO00255. baseline and differential.
GenevisibleiO00255. HS.

Organism-specific databases

HPAiHPA030342.

Interactioni

Subunit structurei

Component of the MLL-HCF complex, at least composed of KMT2A/MLL1, MEN1, ASH2L, RBBP5, DPY30, WDR5, HCFC1 and HCFC2. Component of the menin-associated histone methyltransferase complex, at least composed of KMT2B/MLL4, MEN1, ASH2L, RBBP5, DPY30 and WDR5. Interacts with POLR2B. 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.8 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CHEK1O147572EBI-592789,EBI-974488
FANCD2Q9BXW94EBI-592789,EBI-359343
MYH9P355794EBI-9869387,EBI-350338
NFKB1P198382EBI-592789,EBI-697771
NFKB2Q006533EBI-9869387,EBI-9869360
Nme1Q059825EBI-9869387,EBI-1165329From a different organism.
RELAQ042064EBI-9869387,EBI-73886

GO - Molecular functioni

  • protein binding, bridging Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB
  • R-SMAD binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi110384. 64 interactors.
DIPiDIP-24236N.
IntActiO00255. 26 interactors.
MINTiMINT-1543749.
STRINGi9606.ENSP00000337088.

Chemistry databases

BindingDBiO00255.

Structurei

Secondary structure

1615
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi5 – 8Combined sources4
Helixi16 – 27Combined sources12
Beta strandi29 – 31Combined sources3
Helixi34 – 49Combined sources16
Beta strandi63 – 67Combined sources5
Turni70 – 72Combined sources3
Beta strandi74 – 79Combined sources6
Helixi83 – 100Combined sources18
Helixi103 – 105Combined sources3
Helixi109 – 111Combined sources3
Helixi115 – 127Combined sources13
Beta strandi137 – 139Combined sources3
Helixi143 – 148Combined sources6
Helixi159 – 172Combined sources14
Beta strandi179 – 182Combined sources4
Beta strandi187 – 192Combined sources6
Helixi193 – 195Combined sources3
Beta strandi197 – 199Combined sources3
Beta strandi205 – 207Combined sources3
Helixi209 – 211Combined sources3
Helixi217 – 221Combined sources5
Helixi225 – 230Combined sources6
Helixi237 – 246Combined sources10
Beta strandi251 – 253Combined sources3
Helixi259 – 275Combined sources17
Turni276 – 280Combined sources5
Helixi282 – 294Combined sources13
Helixi303 – 317Combined sources15
Helixi324 – 335Combined sources12
Helixi339 – 353Combined sources15
Helixi360 – 362Combined sources3
Helixi363 – 374Combined sources12
Helixi376 – 389Combined sources14
Helixi408 – 410Combined sources3
Helixi412 – 429Combined sources18
Helixi439 – 450Combined sources12
Helixi454 – 457Combined sources4
Beta strandi461 – 463Combined sources3
Beta strandi555 – 557Combined sources3
Helixi561 – 566Combined sources6
Helixi567 – 569Combined sources3
Beta strandi572 – 574Combined sources3
Helixi577 – 585Combined sources9
Helixi603 – 612Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3U84X-ray2.50A/B2-615[»]
3U85X-ray3.00A2-615[»]
3U86X-ray2.84A2-615[»]
3U88X-ray3.00A/B2-615[»]
4GPQX-ray1.46A1-598[»]
4GQ3X-ray1.56A1-598[»]
4GQ4X-ray1.27A1-598[»]
4GQ6X-ray1.55A1-598[»]
4I80X-ray3.10A2-615[»]
4OG3X-ray2.01A1-598[»]
4OG4X-ray1.45A1-598[»]
4OG5X-ray1.63A1-598[»]
4OG6X-ray1.49A1-598[»]
4OG7X-ray2.08A1-598[»]
4OG8X-ray1.53A1-598[»]
4X5YX-ray1.59A1-432[»]
A537-593[»]
4X5ZX-ray1.86A1-432[»]
A542-598[»]
5DB0X-ray1.50A1-598[»]
5DB1X-ray1.86A1-598[»]
5DB2X-ray1.54A1-598[»]
5DB3X-ray1.71A1-598[»]
5DD9X-ray1.62A1-598[»]
5DDAX-ray1.83A1-598[»]
5DDBX-ray1.54A1-598[»]
5DDCX-ray1.62A1-598[»]
5DDDX-ray2.14A1-598[»]
5DDEX-ray1.78A1-598[»]
5DDFX-ray1.66A1-593[»]
ProteinModelPortaliO00255.
SMRiO00255.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni219 – 395Interaction with FANCD21 PublicationAdd BLAST177

Phylogenomic databases

eggNOGiENOG410IF2R. Eukaryota.
ENOG410ZNZF. LUCA.
GeneTreeiENSGT00390000014237.
HOVERGENiHBG000208.
InParanoidiO00255.
KOiK14970.
OMAiWLLYDKG.
OrthoDBiEOG091G066V.
PhylomeDBiO00255.
TreeFamiTF323888.

Family and domain databases

CDDicd14456. Menin. 1 hit.
InterProiIPR007747. Menin.
[Graphical view]
PANTHERiPTHR12693. PTHR12693. 1 hit.
PfamiPF05053. Menin. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O00255-1) [UniParc]FASTAAdd to basket
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.

« Hide

        10         20         30         40         50
MGLKAAQKTL FPLRSIDDVV RLFAAELGRE EPDLVLLSLV LGFVEHFLAV
60 70 80 90 100
NRVIPTNVPE LTFQPSPAPD PPGGLTYFPV ADLSIIAALY ARFTAQIRGA
110 120 130 140 150
VDLSLYPREG GVSSRELVKK VSDVIWNSLS RSYFKDRAHI QSLFSFITGW
160 170 180 190 200
SPVGTKLDSS GVAFAVVGAC QALGLRDVHL ALSEDHAWVV FGPNGEQTAE
210 220 230 240 250
VTWHGKGNED RRGQTVNAGV AERSWLYLKG SYMRCDRKME VAFMVCAINP
260 270 280 290 300
SIDLHTDSLE LLQLQQKLLW LLYDLGHLER YPMALGNLAD LEELEPTPGR
310 320 330 340 350
PDPLTLYHKG IASAKTYYRD EHIYPYMYLA GYHCRNRNVR EALQAWADTA
360 370 380 390 400
TVIQDYNYCR EDEEIYKEFF EVANDVIPNL LKEAASLLEA GEERPGEQSQ
410 420 430 440 450
GTQSQGSALQ DPECFAHLLR FYDGICKWEE GSPTPVLHVG WATFLVQSLG
460 470 480 490 500
RFEGQVRQKV RIVSREAEAA EAEEPWGEEA REGRRRGPRR ESKPEEPPPP
510 520 530 540 550
KKPALDKGLG TGQGAVSGPP RKPPGTVAGT ARGPEGGSTA QVPAPTASPP
560 570 580 590 600
PEGPVLTFQS EKMKGMKELL VATKINSSAI KLQLTAQSQV QMKKQKVSTP
610
SDYTLSFLKR QRKGL
Length:615
Mass (Da):68,023
Last modified:January 11, 2011 - v4
Checksum:iDDDF850EA5AB77B4
GO
Isoform 2 (identifier: O00255-2) [UniParc]FASTAAdd to basket
Also known as: Short

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

Show »
Length:610
Mass (Da):67,497
Checksum:i9BF844C0302B43EF
GO
Isoform 3 (identifier: O00255-3) [UniParc]FASTAAdd to basket

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

Show »
Length:575
Mass (Da):63,748
Checksum:i3A06BE24447818A3
GO

Sequence cautioni

The sequence ABQ12624 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.Curated
The sequence ABQ12627 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.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00542512P → L in MEN1; no effect on histone methylation; almost no effect on JUND-binding. 2 PublicationsCorresponds to variant rs794728614dbSNPEnsembl.1
Natural variantiVAR_00542622L → R in MEN1; no effect on histone methylation; almost no effect on JUND-binding; no repression of JUND transactivation. 3 PublicationsCorresponds to variant rs104894256dbSNPEnsembl.1
Natural variantiVAR_00542726E → K in parathyroid adenoma and MEN1. 2 PublicationsCorresponds to variant rs28931612dbSNPEnsembl.1
Natural variantiVAR_00542839L → W in MEN1. 3 Publications1
Natural variantiVAR_00542942G → D in MEN1. 2 Publications1
Natural variantiVAR_00543045E → G in MEN1. 1 Publication1
Natural variantiVAR_03958745E → K in MEN1. 2 Publications1
Natural variantiVAR_06515289 – 95Missing in MEN1. 1 Publication7
Natural variantiVAR_03958898R → L in MEN1. 1 Publication1
Natural variantiVAR_039589110G → E in MEN1. 1 Publication1
Natural variantiVAR_005431119Missing in MEN1. 4 Publications1
Natural variantiVAR_005434135K → I in MEN1. 1 Publication1
Natural variantiVAR_005432139H → D in MEN1; almost complete loss of histone methylation; strong decrease in JUND-binding; no repression of JUND transactivation. 4 PublicationsCorresponds to variant rs104894263dbSNPEnsembl.1
Natural variantiVAR_039590139H → P in MEN1. 1 Publication1
Natural variantiVAR_039591139H → R in MEN1. 1 Publication1
Natural variantiVAR_005433139H → Y in MEN1; familial and sporadic cases; almost no effect on JUND-binding; no repression of JUND transactivation. 1 Publication1
Natural variantiVAR_005436144F → V in MEN1. 1 Publication1
Natural variantiVAR_065153147I → F in MEN1. 1 Publication1
Natural variantiVAR_065154157L → W in parathyroid tumors; somatic. 1 Publication1
Natural variantiVAR_039592158D → V in MEN1 and FIHP. 1 Publication1
Natural variantiVAR_039593159S → I in MEN1. 1 Publication1
Natural variantiVAR_039594160S → F in MEN1. 1 Publication1
Natural variantiVAR_008017161G → D in MEN1 and parathyroid tumor. 3 Publications1
Natural variantiVAR_005437165A → P in MEN1; strong decrease in JUND-binding. 3 Publications1
Natural variantiVAR_039595165A → T in MEN1. 1 Publication1
Natural variantiVAR_039596167V → F in MEN1. 1 Publication1
Natural variantiVAR_005438169A → D in MEN1. 2 Publications1
Natural variantiVAR_039597170C → R in MEN1. 2 Publications1
Natural variantiVAR_005439171 – 173Missing in MEN1. 1 Publication3
Natural variantiVAR_039598173L → P in MEN1. 1 PublicationCorresponds to variant rs386134256dbSNPEnsembl.1
Natural variantiVAR_005440176R → Q.6 PublicationsCorresponds to variant rs607969dbSNPEnsembl.1
Natural variantiVAR_005441177D → Y in MEN1. 2 Publications1
Natural variantiVAR_005442181A → P in MEN1; loss of JUND-binding. 1 Publication1
Natural variantiVAR_005443184E → D in MEN1. 2 Publications1
Natural variantiVAR_039599184E → K in MEN1. 2 Publications1
Natural variantiVAR_039600184E → Q in MEN1. 1 Publication1
Natural variantiVAR_039601186H → R in MEN1. 1 Publication1
Natural variantiVAR_039602188W → R in MEN1 and parathyroid tumor. 2 PublicationsCorresponds to variant rs794728649dbSNPEnsembl.1
Natural variantiVAR_005444188W → S in MEN1. 2 Publications1
Natural variantiVAR_005445189V → E in FIHP. 1 PublicationCorresponds to variant rs104894262dbSNPEnsembl.1
Natural variantiVAR_064937220V → F Found in a parathyroid carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_039603220V → M in MEN1. 2 PublicationsCorresponds to variant rs794728621dbSNPEnsembl.1
Natural variantiVAR_005446228L → P in MEN1. 3 Publications1
Natural variantiVAR_039604230G → R in MEN1. 1 Publication1
Natural variantiVAR_039605234R → L in MEN1. 1 Publication1
Natural variantiVAR_039606245V → F in MEN1. 1 Publication1
Natural variantiVAR_039607246C → F in MEN1. 1 Publication1
Natural variantiVAR_008018246C → R in MEN1. 1 Publication1
Natural variantiVAR_039608246C → Y in MEN1. 1 PublicationCorresponds to variant rs794728624dbSNPEnsembl.1
Natural variantiVAR_005447247A → V in MEN1; almost complete loss of histone methylation; loss of JUND-binding; no repression of JUND transactivation. 2 Publications1
Natural variantiVAR_039609258S → P in MEN1. 1 Publication1
Natural variantiVAR_039610258S → W in parathyroid tumor. 1 Publication1
Natural variantiVAR_005448260E → K in FIHP. 1 Publication