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O00255

- MEN1_HUMAN

UniProt

O00255 - MEN1_HUMAN

Protein

Menin

Gene

MEN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 143 (01 Oct 2014)
      Sequence version 4 (11 Jan 2011)
      Previous versions | rss
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    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

    1. chromatin binding Source: Ensembl
    2. double-stranded DNA binding Source: UniProtKB
    3. four-way junction DNA binding Source: UniProtKB
    4. protein binding Source: UniProtKB
    5. protein binding, bridging Source: UniProtKB
    6. protein N-terminus binding Source: UniProtKB
    7. R-SMAD binding Source: BHF-UCL
    8. sequence-specific DNA binding Source: Ensembl
    9. transcription regulatory region DNA binding Source: UniProtKB
    10. Y-form DNA binding Source: UniProtKB

    GO - Biological processi

    1. brain development Source: Ensembl
    2. cell cycle arrest Source: Ensembl
    3. cellular response to DNA damage stimulus Source: UniProtKB
    4. chromatin remodeling Source: Ensembl
    5. DNA repair Source: UniProtKB
    6. embryonic skeletal system morphogenesis Source: Ensembl
    7. gene expression Source: Reactome
    8. hemopoiesis Source: Ensembl
    9. histone lysine methylation Source: GOC
    10. leukocyte homeostasis Source: Ensembl
    11. MAPK cascade Source: UniProtKB
    12. maternal process involved in female pregnancy Source: Ensembl
    13. negative regulation of cell cycle Source: UniProtKB
    14. negative regulation of cell proliferation Source: UniProtKB
    15. negative regulation of cyclin-dependent protein serine/threonine kinase activity Source: UniProtKB
    16. negative regulation of JNK cascade Source: UniProtKB
    17. negative regulation of organ growth Source: Ensembl
    18. negative regulation of osteoblast differentiation Source: MGI
    19. negative regulation of protein phosphorylation Source: UniProtKB
    20. negative regulation of sequence-specific DNA binding transcription factor activity Source: UniProtKB
    21. negative regulation of telomerase activity Source: UniProtKB
    22. negative regulation of transcription, DNA-templated Source: UniProtKB
    23. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    24. osteoblast development Source: MGI
    25. osteoblast fate commitment Source: Ensembl
    26. palate development Source: Ensembl
    27. positive regulation of apoptotic process Source: Ensembl
    28. positive regulation of cell division Source: Ensembl
    29. positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: Ensembl
    30. positive regulation of histone methylation Source: Ensembl
    31. positive regulation of osteoblast differentiation Source: Ensembl
    32. positive regulation of protein binding Source: UniProtKB
    33. positive regulation of transcription from RNA polymerase II promoter Source: Reactome
    34. positive regulation of transforming growth factor beta receptor signaling pathway Source: UniProtKB
    35. regulation of activin receptor signaling pathway Source: Ensembl
    36. response to gamma radiation Source: UniProtKB
    37. response to UV Source: UniProtKB
    38. transcription, DNA-templated Source: Reactome
    39. transcription initiation from RNA polymerase II promoter Source: Reactome
    40. transforming growth factor beta receptor signaling pathway Source: Reactome

    Keywords - Molecular functioni

    Chromatin regulator, Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_120734. SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription.
    REACT_200731. deactivation of the beta-catenin transactivating complex.
    REACT_200753. formation of the beta-catenin:TCF transactivating complex.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Menin
    Gene namesi
    Name:MEN1
    Synonyms:SCG2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: 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

    1. chromatin Source: UniProtKB
    2. cleavage furrow Source: UniProtKB
    3. cytoplasm Source: UniProtKB
    4. cytosol Source: UniProtKB
    5. histone methyltransferase complex Source: MGI
    6. nuclear matrix Source: UniProtKB
    7. nucleoplasm Source: Reactome
    8. nucleus Source: UniProtKB
    9. protein complex Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.39 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121P → L in MEN1; no effect on histone methylation; almost no effect on JUND-binding. 2 Publications
    VAR_005425
    Natural varianti22 – 221L → R in MEN1; no effect on histone methylation; almost no effect on JUND-binding; no repression of JUND transactivation. 3 Publications
    VAR_005426
    Natural varianti26 – 261E → K in parathyroid adenoma and MEN1. 2 Publications
    Corresponds to variant rs28931612 [ dbSNP | Ensembl ].
    VAR_005427
    Natural varianti39 – 391L → W in MEN1. 3 Publications
    VAR_005428
    Natural varianti42 – 421G → D in MEN1. 2 Publications
    VAR_005429
    Natural varianti45 – 451E → G in MEN1. 1 Publication
    VAR_005430
    Natural varianti45 – 451E → K in MEN1. 2 Publications
    VAR_039587
    Natural varianti89 – 957Missing in MEN1.
    VAR_065152
    Natural varianti98 – 981R → L in MEN1. 1 Publication
    VAR_039588
    Natural varianti110 – 1101G → E in MEN1. 1 Publication
    VAR_039589
    Natural varianti119 – 1191Missing in MEN1. 4 Publications
    VAR_005431
    Natural varianti135 – 1351K → I in MEN1. 1 Publication
    VAR_005434
    Natural varianti139 – 1391H → D in MEN1; almost complete loss of histone methylation; strong decrease in JUND-binding; no repression of JUND transactivation. 4 Publications
    VAR_005432
    Natural varianti139 – 1391H → P in MEN1. 1 Publication
    VAR_039590
    Natural varianti139 – 1391H → R in MEN1. 1 Publication
    VAR_039591
    Natural varianti139 – 1391H → Y in MEN1; familial and sporadic cases; almost no effect on JUND-binding; no repression of JUND transactivation. 1 Publication
    VAR_005433
    Natural varianti144 – 1441F → V in MEN1. 1 Publication
    VAR_005436
    Natural varianti147 – 1471I → F in MEN1. 1 Publication
    VAR_065153
    Natural varianti158 – 1581D → V in MEN1 and FIHP. 1 Publication
    VAR_039592
    Natural varianti159 – 1591S → I in MEN1. 1 Publication
    VAR_039593
    Natural varianti160 – 1601S → F in MEN1. 1 Publication
    VAR_039594
    Natural varianti161 – 1611G → D in MEN1 and parathyroid tumor. 3 Publications
    VAR_008017
    Natural varianti165 – 1651A → P in MEN1; strong decrease in JUND-binding. 3 Publications
    VAR_005437
    Natural varianti165 – 1651A → T in MEN1. 1 Publication
    VAR_039595
    Natural varianti167 – 1671V → F in MEN1. 1 Publication
    VAR_039596
    Natural varianti169 – 1691A → D in MEN1. 2 Publications
    VAR_005438
    Natural varianti170 – 1701C → R in MEN1. 2 Publications
    VAR_039597
    Natural varianti171 – 1733Missing in MEN1.
    VAR_005439
    Natural varianti173 – 1731L → P in MEN1. 1 Publication
    VAR_039598
    Natural varianti177 – 1771D → Y in MEN1. 2 Publications
    VAR_005441
    Natural varianti181 – 1811A → P in MEN1; loss of JUND-binding. 1 Publication
    VAR_005442
    Natural varianti184 – 1841E → D in MEN1. 2 Publications
    VAR_005443
    Natural varianti184 – 1841E → K in MEN1. 2 Publications
    VAR_039599
    Natural varianti184 – 1841E → Q in MEN1. 1 Publication
    VAR_039600
    Natural varianti186 – 1861H → R in MEN1. 1 Publication
    VAR_039601
    Natural varianti188 – 1881W → R in MEN1 and parathyroid tumor. 2 Publications
    VAR_039602
    Natural varianti188 – 1881W → S in MEN1. 2 Publications
    VAR_005444
    Natural varianti220 – 2201V → M in MEN1. 2 Publications
    VAR_039603
    Natural varianti228 – 2281L → P in MEN1. 3 Publications
    VAR_005446
    Natural varianti230 – 2301G → R in MEN1. 1 Publication
    VAR_039604
    Natural varianti234 – 2341R → L in MEN1. 1 Publication
    VAR_039605
    Natural varianti245 – 2451V → F in MEN1. 1 Publication
    VAR_039606
    Natural varianti246 – 2461C → F in MEN1. 1 Publication
    VAR_039607
    Natural varianti246 – 2461C → R in MEN1. 1 Publication
    VAR_008018
    Natural varianti246 – 2461C → Y in MEN1. 1 Publication
    VAR_039608
    Natural varianti247 – 2471A → V in MEN1; almost complete loss of histone methylation; loss of JUND-binding; no repression of JUND transactivation. 2 Publications
    VAR_005447
    Natural varianti258 – 2581S → P in MEN1. 1 Publication
    VAR_039609
    Natural varianti264 – 2641L → R in MEN1. 1 Publication
    VAR_039611
    Natural varianti266 – 2661Q → QLQ in MEN1. 1 Publication
    VAR_039613
    Natural varianti269 – 2691L → P in MEN1. 1 Publication
    VAR_005449
    Natural varianti286 – 2861G → R in MEN1. 2 Publications
    VAR_039616
    Natural varianti289 – 2891A → E in MEN1. 1 Publication
    VAR_005451
    Natural varianti291 – 2911L → P in MEN1; almost no effect on JUND-binding. 1 Publication
    VAR_005452
    Natural varianti314 – 3141A → P in MEN1; no effect on histone methylation; almost no effect on JUND-binding. 2 Publications
    VAR_005453
    Natural varianti316 – 3161T → P in MEN1. 2 Publications
    VAR_039619
    Natural varianti319 – 3191R → P in MEN1. 1 Publication
    VAR_005454
    Natural varianti322 – 3221H → R in MEN1. 2 Publications
    VAR_039620
    Natural varianti322 – 3221H → Y in MEN1. 2 Publications
    VAR_039621
    Natural varianti325 – 3251P → L in MEN1. 1 Publication
    VAR_039622
    Natural varianti325 – 3251P → R in MEN1. 1 Publication
    VAR_039623
    Natural varianti330 – 3301A → P in MEN1. 1 Publication
    VAR_039624
    Natural varianti342 – 3421A → D in MEN1. 1 Publication
    Corresponds to variant rs2071312 [ dbSNP | Ensembl ].
    VAR_005455
    Natural varianti342 – 3421A → P in MEN1. 1 Publication
    VAR_039625
    Natural varianti346 – 3461W → R in MEN1. 1 Publication
    VAR_005456
    Natural varianti347 – 3471A → P in MEN1. 1 Publication
    VAR_039626
    Natural varianti349 – 3491T → R in MEN1; almost complete loss of histone methylation; almost no effect on JUND-binding. 3 Publications
    VAR_005457
    Natural varianti353 – 3531I → N in MEN1. 1 Publication
    VAR_039627
    Natural varianti358 – 3581Y → D in MEN1. 1 Publication
    VAR_039628
    Natural varianti360 – 3601R → W in MEN1. 1 Publication
    VAR_039629
    Natural varianti362 – 3621D → H in MEN1. 1 Publication
    VAR_039630
    Natural varianti364 – 3641E → K in MEN1. 1 Publication
    VAR_005458
    Natural varianti368 – 3681Missing in MEN1. 2 Publications
    VAR_005459
    Natural varianti373 – 3731A → D in MEN1. 1 Publication
    VAR_005460
    Natural varianti377 – 3771I → M in MEN1. 1 Publication
    VAR_039631
    Natural varianti378 – 3781P → S in MEN1. 1 Publication
    VAR_039632
    Natural varianti390 – 3901A → V in MEN1. 1 Publication
    VAR_039633
    Natural varianti416 – 4161A → P in MEN1 and FIHP. 1 Publication
    VAR_039634
    Natural varianti418 – 4181L → R in MEN1. 1 Publication
    VAR_065155
    Natural varianti419 – 4191L → P in MEN1. 2 Publications
    VAR_039635
    Natural varianti420 – 4201R → P in MEN1. 1 Publication
    VAR_039636
    Natural varianti423 – 4264Missing in MEN1.
    VAR_005463
    Natural varianti423 – 4231D → H in MEN1. 1 Publication
    VAR_039637
    Natural varianti423 – 4231D → N in MEN1. 4 Publications
    VAR_005461
    Natural varianti423 – 4231Missing in MEN1.
    VAR_005462
    Natural varianti426 – 4261C → Y in MEN1. 1 Publication
    VAR_039638
    Natural varianti428 – 4281W → S in MEN1. 1 Publication
    VAR_039639
    Natural varianti432 – 4321S → R in MEN1. 1 Publication
    VAR_039640
    Natural varianti441 – 4411W → C in MEN1. 1 Publication
    VAR_039641
    Natural varianti441 – 4411W → R in MEN1; no effect on histone methylation; almost no effect on JUND-binding; modest repression of JUND transactivation. 4 Publications
    VAR_005464
    Natural varianti449 – 4491L → P in MEN1. 1 Publication
    VAR_039642
    Natural varianti452 – 4521F → S in MEN1; sporadic; with Zollinger-Ellison syndrome.
    VAR_005465
    Natural varianti476 – 4761W → C in MEN1. 1 Publication
    VAR_065156
    Natural varianti532 – 5321R → C in MEN1. 1 Publication
    VAR_039643
    Natural varianti545 – 5451P → S in MEN1. 1 Publication
    VAR_039644
    Natural varianti549 – 5491P → S in MEN1. 1 Publication
    VAR_039645
    Natural varianti560 – 5601S → N in MEN1. 1 Publication
    VAR_005467
    Natural varianti560 – 5601S → R in MEN1. 1 Publication
    VAR_039647
    Familial isolated hyperparathyroidism (FIHP) [MIM:145000]: Autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti158 – 1581D → V in MEN1 and FIHP. 1 Publication
    VAR_039592
    Natural varianti189 – 1891V → E in FIHP. 1 Publication
    VAR_005445
    Natural varianti260 – 2601E → K in FIHP. 1 Publication
    VAR_005448
    Natural varianti265 – 2651Q → P in FIHP. 1 Publication
    VAR_039612
    Natural varianti272 – 2721L → P in FIHP. 1 Publication
    VAR_005450
    Natural varianti282 – 2821P → H in FIHP. 1 Publication
    VAR_039615
    Natural varianti310 – 3101G → D in FIHP. 1 Publication
    VAR_039618
    Natural varianti416 – 4161A → P in MEN1 and FIHP. 1 Publication
    VAR_039634

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi131100. phenotype.
    145000. phenotype.
    Orphaneti99879. Familial isolated hyperparathyroidism.
    99877. Familial parathyroid adenoma.
    652. Multiple endocrine neoplasia type 1.
    913. Zollinger-Ellison syndrome.
    PharmGKBiPA30746.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 615615MeninPRO_0000096411Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei599 – 5991Phosphothreonine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiO00255.
    PaxDbiO00255.
    PRIDEiO00255.

    PTM databases

    PhosphoSiteiO00255.

    Expressioni

    Tissue specificityi

    Ubiquitous.

    Gene expression databases

    ArrayExpressiO00255.
    BgeeiO00255.
    CleanExiHS_MEN1.
    HS_SCG2.
    GenevestigatoriO00255.

    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
    MYH9P355797EBI-592789,EBI-350338
    Nme1Q059825EBI-592789,EBI-1165329From a different organism.

    Protein-protein interaction databases

    BioGridi110384. 60 interactions.
    DIPiDIP-24236N.
    IntActiO00255. 10 interactions.
    MINTiMINT-1543749.
    STRINGi9606.ENSP00000337088.

    Structurei

    Secondary structure

    1
    615
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi5 – 84
    Helixi16 – 2712
    Beta strandi29 – 313
    Helixi34 – 4916
    Beta strandi63 – 675
    Turni70 – 723
    Beta strandi74 – 796
    Helixi83 – 10018
    Helixi103 – 1053
    Helixi109 – 1113
    Helixi115 – 12713
    Beta strandi137 – 1393
    Helixi143 – 1486
    Helixi159 – 17214
    Beta strandi179 – 1824
    Beta strandi187 – 1926
    Helixi193 – 1953
    Beta strandi197 – 1993
    Beta strandi205 – 2073
    Helixi209 – 2113
    Helixi217 – 2215
    Helixi225 – 2306
    Helixi237 – 24610
    Beta strandi251 – 2533
    Helixi259 – 27517
    Turni276 – 2805
    Helixi282 – 29413
    Helixi303 – 31715
    Helixi324 – 33512
    Helixi339 – 35315
    Helixi360 – 3623
    Helixi363 – 37412
    Helixi376 – 38914
    Helixi408 – 4103
    Helixi412 – 42918
    Helixi439 – 45012
    Helixi454 – 4574
    Beta strandi461 – 4633
    Beta strandi555 – 5573
    Helixi561 – 5666
    Helixi567 – 5693
    Beta strandi572 – 5743
    Helixi577 – 5859
    Helixi603 – 61210

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    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[»]
    ProteinModelPortaliO00255.
    SMRiO00255. Positions 2-613.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni219 – 395177Interaction with FANCD2Add
    BLAST

    Phylogenomic databases

    eggNOGiNOG67412.
    HOVERGENiHBG000208.
    InParanoidiO00255.
    KOiK14970.
    OMAiPYMYLAG.
    OrthoDBiEOG7QC7WH.
    PhylomeDBiO00255.
    TreeFamiTF323888.

    Family and domain databases

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

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    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

    MGLKAAQKTL FPLRSIDDVV RLFAAELGRE EPDLVLLSLV LGFVEHFLAV    50
    NRVIPTNVPE LTFQPSPAPD PPGGLTYFPV ADLSIIAALY ARFTAQIRGA 100
    VDLSLYPREG GVSSRELVKK VSDVIWNSLS RSYFKDRAHI QSLFSFITGW 150
    SPVGTKLDSS GVAFAVVGAC QALGLRDVHL ALSEDHAWVV FGPNGEQTAE 200
    VTWHGKGNED RRGQTVNAGV AERSWLYLKG SYMRCDRKME VAFMVCAINP 250
    SIDLHTDSLE LLQLQQKLLW LLYDLGHLER YPMALGNLAD LEELEPTPGR 300
    PDPLTLYHKG IASAKTYYRD EHIYPYMYLA GYHCRNRNVR EALQAWADTA 350
    TVIQDYNYCR EDEEIYKEFF EVANDVIPNL LKEAASLLEA GEERPGEQSQ 400
    GTQSQGSALQ DPECFAHLLR FYDGICKWEE GSPTPVLHVG WATFLVQSLG 450
    RFEGQVRQKV RIVSREAEAA EAEEPWGEEA REGRRRGPRR ESKPEEPPPP 500
    KKPALDKGLG TGQGAVSGPP RKPPGTVAGT ARGPEGGSTA QVPAPTASPP 550
    PEGPVLTFQS EKMKGMKELL VATKINSSAI KLQLTAQSQV QMKKQKVSTP 600
    SDYTLSFLKR QRKGL 615
    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 ABQ12624.1 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.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121P → L in MEN1; no effect on histone methylation; almost no effect on JUND-binding. 2 Publications
    VAR_005425
    Natural varianti22 – 221L → R in MEN1; no effect on histone methylation; almost no effect on JUND-binding; no repression of JUND transactivation. 3 Publications
    VAR_005426
    Natural varianti26 – 261E → K in parathyroid adenoma and MEN1. 2 Publications
    Corresponds to variant rs28931612 [ dbSNP | Ensembl ].
    VAR_005427
    Natural varianti39 – 391L → W in MEN1. 3 Publications
    VAR_005428
    Natural varianti42 – 421G → D in MEN1. 2 Publications
    VAR_005429
    Natural varianti45 – 451E → G in MEN1. 1 Publication
    VAR_005430
    Natural varianti45 – 451E → K in MEN1. 2 Publications
    VAR_039587
    Natural varianti89 – 957Missing in MEN1.
    VAR_065152
    Natural varianti98 – 981R → L in MEN1. 1 Publication
    VAR_039588
    Natural varianti110 – 1101G → E in MEN1. 1 Publication
    VAR_039589
    Natural varianti119 – 1191Missing in MEN1. 4 Publications
    VAR_005431
    Natural varianti135 – 1351K → I in MEN1. 1 Publication
    VAR_005434
    Natural varianti139 – 1391H → D in MEN1; almost complete loss of histone methylation; strong decrease in JUND-binding; no repression of JUND transactivation. 4 Publications
    VAR_005432
    Natural varianti139 – 1391H → P in MEN1. 1 Publication
    VAR_039590
    Natural varianti139 – 1391H → R in MEN1. 1 Publication
    VAR_039591
    Natural varianti139 – 1391H → Y in MEN1; familial and sporadic cases; almost no effect on JUND-binding; no repression of JUND transactivation. 1 Publication
    VAR_005433
    Natural varianti144 – 1441F → V in MEN1. 1 Publication
    VAR_005436
    Natural varianti147 – 1471I → F in MEN1. 1 Publication
    VAR_065153
    Natural varianti157 – 1571L → W in parathyroid tumors; somatic. 1 Publication
    VAR_065154
    Natural varianti158 – 1581D → V in MEN1 and FIHP. 1 Publication
    VAR_039592
    Natural varianti159 – 1591S → I in MEN1. 1 Publication
    VAR_039593
    Natural varianti160 – 1601S → F in MEN1. 1 Publication
    VAR_039594
    Natural varianti161 – 1611G → D in MEN1 and parathyroid tumor. 3 Publications
    VAR_008017
    Natural varianti165 – 1651A → P in MEN1; strong decrease in JUND-binding. 3 Publications
    VAR_005437
    Natural varianti165 – 1651A → T in MEN1. 1 Publication
    VAR_039595
    Natural varianti167 – 1671V → F in MEN1. 1 Publication
    VAR_039596
    Natural varianti169 – 1691A → D in MEN1. 2 Publications
    VAR_005438
    Natural varianti170 – 1701C → R in MEN1. 2 Publications
    VAR_039597
    Natural varianti171 – 1733Missing in MEN1.
    VAR_005439
    Natural varianti173 – 1731L → P in MEN1. 1 Publication
    VAR_039598
    Natural varianti176 – 1761R → Q.6 Publications
    Corresponds to variant rs607969 [ dbSNP | Ensembl ].
    VAR_005440
    Natural varianti177 – 1771D → Y in MEN1. 2 Publications
    VAR_005441
    Natural varianti181 – 1811A → P in MEN1; loss of JUND-binding. 1 Publication
    VAR_005442
    Natural varianti184 – 1841E → D in MEN1. 2 Publications
    VAR_005443
    Natural varianti184 – 1841E → K in MEN1. 2 Publications
    VAR_039599
    Natural varianti184 – 1841E → Q in MEN1. 1 Publication
    VAR_039600
    Natural varianti186 – 1861H → R in MEN1. 1 Publication
    VAR_039601
    Natural varianti188 – 1881W → R in MEN1 and parathyroid tumor. 2 Publications
    VAR_039602
    Natural varianti188 – 1881W → S in MEN1. 2 Publications
    VAR_005444
    Natural varianti189 – 1891V → E in FIHP. 1 Publication
    VAR_005445
    Natural varianti220 – 2201V → F Found in a parathyroid carcinoma sample; somatic mutation. 1 Publication
    VAR_064937
    Natural varianti220 – 2201V → M in MEN1. 2 Publications
    VAR_039603
    Natural varianti228 – 2281L → P in MEN1. 3 Publications
    VAR_005446
    Natural varianti230 – 2301G → R in MEN1. 1 Publication
    VAR_039604
    Natural varianti234 – 2341R → L in MEN1. 1 Publication
    VAR_039605
    Natural varianti245 – 2451V → F in MEN1. 1 Publication
    VAR_039606
    Natural varianti246 – 2461C → F in MEN1. 1 Publication
    VAR_039607
    Natural varianti246 – 2461C → R in MEN1. 1 Publication
    VAR_008018
    Natural varianti246 – 2461C → Y in MEN1. 1 Publication
    VAR_039608
    Natural varianti247 – 2471A → V in MEN1; almost complete loss of histone methylation; loss of JUND-binding; no repression of JUND transactivation. 2 Publications
    VAR_005447
    Natural varianti258 – 2581S → P in MEN1. 1 Publication
    VAR_039609
    Natural varianti258 – 2581S → W in parathyroid tumor. 1 Publication
    VAR_039610
    Natural varianti260 – 2601E → K in FIHP. 1 Publication
    VAR_005448
    Natural varianti264 – 2641L → R in MEN1. 1 Publication
    VAR_039611
    Natural varianti265 – 2651Q → P in FIHP. 1 Publication
    VAR_039612
    Natural varianti266 – 2661Q → QLQ in MEN1. 1 Publication
    VAR_039613
    Natural varianti269 – 2691L → P in MEN1. 1 Publication
    VAR_005449
    Natural varianti272 – 2721L → P in FIHP. 1 Publication
    VAR_005450
    Natural varianti279 – 2791E → A in parathyroid tumor. 1 Publication
    VAR_039614
    Natural varianti282 – 2821P → H in FIHP. 1 Publication
    VAR_039615
    Natural varianti286 – 2861G → R in MEN1. 2 Publications
    VAR_039616
    Natural varianti289 – 2891A → E in MEN1. 1 Publication
    VAR_005451
    Natural varianti289 – 2891A → P in parathyroid tumor. 1 Publication
    VAR_039617
    Natural varianti291 – 2911L → P in MEN1; almost no effect on JUND-binding. 1 Publication
    VAR_005452
    Natural varianti310 – 3101G → D in FIHP. 1 Publication
    VAR_039618
    Natural varianti314 – 3141A → P in MEN1; no effect on histone methylation; almost no effect on JUND-binding. 2 Publications
    VAR_005453
    Natural varianti316 – 3161T → P in MEN1. 2 Publications
    VAR_039619
    Natural varianti319 – 3191R → P in MEN1. 1 Publication
    VAR_005454
    Natural varianti322 – 3221H → R in MEN1. 2 Publications
    VAR_039620
    Natural varianti322 – 3221H → Y in MEN1. 2 Publications