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O00255

- MEN1_HUMAN

UniProt

O00255 - MEN1_HUMAN

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Protein
Menin
Gene
MEN1, SCG2
Organism
Homo sapiens (Human)
Status
Reviewed - 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.5 Publications

GO - Molecular functioni

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

GO - Biological processi

  1. DNA repair Source: UniProtKB
  2. MAPK cascade Source: UniProtKB
  3. brain development Source: Ensembl
  4. cell cycle arrest Source: Ensembl
  5. cellular response to DNA damage stimulus Source: UniProtKB
  6. chromatin remodeling Source: Ensembl
  7. embryonic skeletal system morphogenesis Source: Ensembl
  8. gene expression Source: Reactome
  9. hemopoiesis Source: Ensembl
  10. histone lysine methylation Source: GOC
  11. leukocyte homeostasis Source: Ensembl
  12. maternal process involved in female pregnancy Source: Ensembl
  13. negative regulation of JNK cascade Source: UniProtKB
  14. negative regulation of cell cycle Source: UniProtKB
  15. negative regulation of cell proliferation Source: UniProtKB
  16. negative regulation of cyclin-dependent protein serine/threonine kinase activity 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 from RNA polymerase II promoter Source: UniProtKB
  23. negative regulation of transcription, DNA-templated 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 UV Source: UniProtKB
  37. response to gamma radiation Source: UniProtKB
  38. transcription initiation from RNA polymerase II promoter Source: Reactome
  39. transcription, DNA-templated Source: Reactome
  40. transforming growth factor beta receptor signaling pathway Source: Reactome
Complete GO annotation...

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
Note: Concentrated in nuclear body-like structures. Relocates to the nuclear matrix upon gamma irradiation.1 Publication

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.40 Publications
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.
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.7 Publications
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 – 615615Menin
PRO_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. 59 interactions.
DIPiDIP-24236N.
IntActiO00255. 10 interactions.
MINTiMINT-1543749.
STRINGi9606.ENSP00000337088.

Structurei

Secondary structure

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.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni219 – 395177Interaction with FANCD2
Add
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.
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
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