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Protein

Histone-lysine N-methyltransferase 2D

Gene

KMT2D

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

Functioni

Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription.3 Publications

Catalytic activityi

S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].2 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei5451 – 54511S-adenosyl-L-methioninePROSITE-ProRule annotation
Metal bindingi5477 – 54771ZincBy similarity
Metal bindingi5525 – 55251ZincBy similarity
Metal bindingi5527 – 55271ZincBy similarity
Metal bindingi5532 – 55321ZincBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri226 – 27651PHD-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri229 – 27446RING-type 1; atypicalPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri273 – 32351PHD-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri276 – 32146RING-type 2; degeneratePROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1377 – 143054PHD-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1427 – 147751PHD-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1504 – 155956PHD-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1507 – 155751RING-type 3; atypicalPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri5092 – 513746RING-type 4; degeneratePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  • DNA binding Source: UniProtKB
  • histone methyltransferase activity (H3-K4 specific) Source: Reactome
  • transcription regulatory region DNA binding Source: UniProtKB
  • zinc ion binding Source: InterPro

GO - Biological processi

  • chromatin organization Source: Reactome
  • chromatin silencing Source: UniProtKB
  • histone H3-K4 methylation Source: UniProtKB
  • in utero embryonic development Source: Ensembl
  • oocyte growth Source: UniProtKB
  • oogenesis Source: UniProtKB
  • positive regulation of cell proliferation Source: UniProtKB
  • positive regulation of intracellular estrogen receptor signaling pathway Source: UniProtKB
  • positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • regulation of transcription, DNA-templated Source: UniProtKB
  • response to estrogen Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator, Methyltransferase, Transferase

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

Metal-binding, S-adenosyl-L-methionine, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-201722. Formation of the beta-catenin:TCF transactivating complex.
R-HSA-3214841. PKMTs methylate histone lysines.
R-HSA-3769402. Deactivation of the beta-catenin transactivating complex.
R-HSA-5617472. Activation of anterior HOX genes in hindbrain development during early embryogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Histone-lysine N-methyltransferase 2D (EC:2.1.1.43)
Short name:
Lysine N-methyltransferase 2D
Alternative name(s):
ALL1-related protein
Myeloid/lymphoid or mixed-lineage leukemia protein 2
Gene namesi
Name:KMT2D
Synonyms:ALR, MLL2, MLL4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:7133. KMT2D.

Subcellular locationi

GO - Cellular componenti

  • histone methyltransferase complex Source: MGI
  • MLL3/4 complex Source: UniProtKB
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Kabuki syndrome 1 (KABUK1)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy.
See also OMIM:147920
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti170 – 1701Q → H in KABUK1; unknown pathological significance. 1 Publication
VAR_074216
Natural varianti170 – 1701Q → L in KABUK1; unknown pathological significance. 1 Publication
VAR_074217
Natural varianti337 – 3371S → L in KABUK1; unknown pathological significance. 1 Publication
VAR_074218
Natural varianti543 – 5431S → L in KABUK1; unknown pathological significance. 1 Publication
VAR_074219
Natural varianti647 – 6471P → Q in KABUK1. 2 Publications
VAR_074220
Natural varianti1192 – 11921V → M in KABUK1; unknown pathological significance. 1 Publication
VAR_074221
Natural varianti1258 – 12581R → Q in KABUK1; unknown pathological significance. 1 Publication
VAR_074222
Natural varianti1376 – 13761M → R in KABUK1; unknown pathological significance. 1 Publication
VAR_074223
Natural varianti1380 – 13801C → R in KABUK1; unknown pathological significance. 1 Publication
VAR_074224
Natural varianti1388 – 13881R → L in KABUK1; unknown pathological significance. 1 Publication
VAR_074225
Natural varianti1417 – 14171M → V in KABUK1; unknown pathological significance. 1 Publication
VAR_074226
Natural varianti1418 – 14181L → M in KABUK1; unknown pathological significance. 1 Publication
VAR_074227
Natural varianti1423 – 14231R → C in KABUK1; unknown pathological significance. 1 Publication
VAR_074228
Natural varianti1424 – 14241C → F in KABUK1; unknown pathological significance. 1 Publication
VAR_074229
Natural varianti1430 – 14301C → R in KABUK1; unknown pathological significance. 1 Publication
VAR_074230
Natural varianti1445 – 14451C → G in KABUK1; unknown pathological significance. 1 Publication
VAR_074231
Natural varianti1453 – 14531H → R in KABUK1; unknown pathological significance. 1 Publication
VAR_074232
Natural varianti1471 – 14711C → R in KABUK1; unknown pathological significance. 1 Publication
VAR_074233
Natural varianti1471 – 14711C → Y in KABUK1; unknown pathological significance. 1 Publication
VAR_074234
Natural varianti1522 – 15221Q → R in KABUK1; unknown pathological significance. 1 Publication
VAR_074235
Natural varianti1526 – 15261C → F in KABUK1; unknown pathological significance. 1 Publication
VAR_074236
Natural varianti1718 – 17181A → V in KABUK1; unknown pathological significance. 1 Publication
VAR_074237
Natural varianti2841 – 28411P → T in KABUK1; unknown pathological significance. 1 Publication
VAR_074239
Natural varianti3876 – 38761L → R in KABUK1; unknown pathological significance. 1 Publication
VAR_074240
Natural varianti3897 – 38971L → S in KABUK1; unknown pathological significance. 1 Publication
VAR_074241
Natural varianti4353 – 43531P → L in KABUK1; unknown pathological significance. 1 Publication
VAR_074243
Natural varianti4420 – 44201R → Q in KABUK1; unknown pathological significance. 1 Publication
VAR_074244
Natural varianti5028 – 50281D → E in KABUK1; unknown pathological significance. 1 Publication
VAR_074245
Natural varianti5030 – 50301R → C in KABUK1. 2 Publications
VAR_074246
Natural varianti5034 – 50341F → V in KABUK1; unknown pathological significance. 1 Publication
VAR_074247
Natural varianti5040 – 50401D → G in KABUK1; unknown pathological significance. 1 Publication
VAR_074248
Natural varianti5047 – 50471A → V in KABUK1; unknown pathological significance. 1 Publication
VAR_074249
Natural varianti5048 – 50481R → C in KABUK1. 4 Publications
VAR_074250
Natural varianti5048 – 50481R → H in KABUK1. 2 Publications
VAR_074251
Natural varianti5059 – 50591H → P in KABUK1; unknown pathological significance. 1 Publication
VAR_074252
Natural varianti5109 – 51091C → F in KABUK1. 2 Publications
VAR_063830
Natural varianti5154 – 51541R → Q in KABUK1. 2 Publications
VAR_074253
Natural varianti5179 – 51791R → H in KABUK1. 3 Publications
VAR_063831
Natural varianti5189 – 51891G → R in KABUK1; unknown pathological significance. 1 Publication
VAR_074254
Natural varianti5210 – 52101Y → C in KABUK1; unknown pathological significance. 1 Publication
VAR_064378
Natural varianti5214 – 52141R → C in KABUK1. 3 Publications
VAR_074255
Natural varianti5214 – 52141R → H in KABUK1. 2 Publications
VAR_063832
Natural varianti5340 – 53401R → L in KABUK1. 2 Publications
VAR_063833
Natural varianti5340 – 53401R → Q in KABUK1; unknown pathological significance. 1 Publication
VAR_074256
Natural varianti5351 – 53511R → Q in KABUK1; unknown pathological significance. 1 Publication
VAR_074257
Natural varianti5428 – 54281G → D in KABUK1; unknown pathological significance. 1 Publication
VAR_064379
Natural varianti5432 – 54321R → W in KABUK1; unknown pathological significance. 1 Publication
VAR_074258
Natural varianti5464 – 54641T → M in KABUK1. 2 Publications
VAR_063834
Natural varianti5471 – 54711R → T in KABUK1. 2 Publications
VAR_074259
Natural varianti5481 – 54811C → Y in KABUK1; unknown pathological significance. 1 Publication
VAR_074260
Natural varianti5498 – 54981S → F in KABUK1. 2 Publications
VAR_074261

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MalaCardsiKMT2D.
MIMi147920. phenotype.
Orphaneti2322. Kabuki syndrome.
PharmGKBiPA30846.

Chemistry

ChEMBLiCHEMBL2189114.

Polymorphism and mutation databases

BioMutaiKMT2D.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 55375537Histone-lysine N-methyltransferase 2DPRO_0000124878Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei27 – 271PhosphoserineCombined sources
Modified residuei744 – 7441PhosphoserineBy similarity
Modified residuei1151 – 11511PhosphoserineCombined sources
Modified residuei1195 – 11951PhosphothreonineCombined sources
Modified residuei1249 – 12491PhosphoserineCombined sources
Modified residuei1267 – 12671PhosphothreonineBy similarity
Modified residuei1270 – 12701PhosphoserineBy similarity
Modified residuei1606 – 16061PhosphoserineCombined sources
Modified residuei1671 – 16711PhosphoserineCombined sources
Modified residuei1865 – 18651PhosphothreonineBy similarity
Modified residuei2239 – 22391PhosphoserineCombined sources
Modified residuei2246 – 22461N6-acetyllysineCombined sources
Modified residuei2274 – 22741PhosphoserineCombined sources
Modified residuei2309 – 23091PhosphoserineCombined sources
Modified residuei2311 – 23111PhosphoserineCombined sources
Modified residuei2342 – 23421PhosphoserineBy similarity
Modified residuei2640 – 26401PhosphoserineBy similarity
Modified residuei3079 – 30791N6-acetyllysineCombined sources
Modified residuei3130 – 31301PhosphoserineCombined sources
Modified residuei3197 – 31971PhosphothreonineCombined sources
Modified residuei3199 – 31991PhosphoserineCombined sources
Modified residuei3433 – 34331N6-acetyllysineCombined sources
Modified residuei4215 – 42151PhosphoserineCombined sources
Modified residuei4359 – 43591PhosphoserineCombined sources
Modified residuei4465 – 44651N6-acetyllysineCombined sources
Modified residuei4738 – 47381PhosphoserineCombined sources
Cross-linki4756 – 4756Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei4776 – 47761N6-acetyllysineCombined sources
Modified residuei4822 – 48221PhosphoserineCombined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiO14686.
MaxQBiO14686.
PaxDbiO14686.
PRIDEiO14686.

PTM databases

iPTMnetiO14686.
PhosphoSiteiO14686.

Expressioni

Tissue specificityi

Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.

Gene expression databases

BgeeiO14686.
CleanExiHS_MLL2.
ExpressionAtlasiO14686. baseline and differential.
GenevisibleiO14686. HS.

Organism-specific databases

HPAiHPA035977.

Interactioni

Subunit structurei

Component of the MLL2/3 complex (also named ASCOM complex), at least composed of KMT2D/MLL2 or KMT2C/MLL3, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin. Interacts with ESR1; interaction is direct.6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ESR1P033723EBI-996065,EBI-78473
NCOA6Q146866EBI-996065,EBI-78670

Protein-protein interaction databases

BioGridi113758. 32 interactions.
DIPiDIP-37875N.
IntActiO14686. 21 interactions.
MINTiMINT-1192941.
STRINGi9606.ENSP00000301067.

Chemistry

BindingDBiO14686.

Structurei

Secondary structure

1
5537
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi5339 – 53413Combined sources
Helixi5384 – 539815Combined sources
Beta strandi5399 – 54035Combined sources
Beta strandi5405 – 541511Combined sources
Beta strandi5422 – 54254Combined sources
Beta strandi5428 – 54325Combined sources
Helixi5433 – 544412Combined sources
Turni5445 – 54473Combined sources
Beta strandi5452 – 54543Combined sources
Beta strandi5456 – 54627Combined sources
Turni5464 – 54663Combined sources
Helixi5469 – 54724Combined sources
Beta strandi5480 – 54889Combined sources
Beta strandi5491 – 550010Combined sources
Beta strandi5516 – 55205Combined sources
Beta strandi5534 – 55363Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3UVKX-ray1.40B5337-5347[»]
4ERQX-ray1.91D/E/F5333-5346[»]
4Z4PX-ray2.20A5382-5536[»]
ProteinModelPortaliO14686.
SMRiO14686. Positions 220-323, 2000-2077, 5381-5536.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati442 – 44651
Repeati460 – 46452
Repeati469 – 47353
Repeati496 – 50054
Repeati504 – 50855
Repeati521 – 52556
Repeati555 – 55957
Repeati564 – 56858
Repeati573 – 57759
Repeati582 – 586510
Repeati609 – 613511
Repeati618 – 622512
Repeati627 – 631513
Repeati645 – 649514
Repeati663 – 667515
Domaini5175 – 523561FYR N-terminalPROSITE-ProRule annotationAdd
BLAST
Domaini5236 – 532186FYR C-terminalPROSITE-ProRule annotationAdd
BLAST
Domaini5397 – 5513117SETPROSITE-ProRule annotationAdd
BLAST
Domaini5521 – 553717Post-SETPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni439 – 66823015 X 5 AA repeats of S/P-P-P-E/P-E/AAdd
BLAST
Regioni5474 – 54752S-adenosyl-L-methionine bindingBy similarity

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili2669 – 270739Sequence analysisAdd
BLAST
Coiled coili3249 – 328234Sequence analysisAdd
BLAST
Coiled coili3562 – 361453Sequence analysisAdd
BLAST
Coiled coili3714 – 375037Sequence analysisAdd
BLAST
Coiled coili3897 – 397579Sequence analysisAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi2686 – 26905LXXLL motif 1
Motifi3038 – 30425LXXLL motif 2
Motifi4222 – 423615LXXLL motif 3Add
BLAST
Motifi4253 – 42575LXXLL motif 4
Motifi4463 – 44675LXXLL motif 5
Motifi4990 – 49945LXXLL motif 6

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi229 – 32698Cys-richAdd
BLAST
Compositional biasi374 – 1197824Pro-richAdd
BLAST
Compositional biasi1290 – 132839Arg-richAdd
BLAST
Compositional biasi1351 – 13555Poly-Glu
Compositional biasi1397 – 1510114Cys-richAdd
BLAST
Compositional biasi2107 – 2626520Pro-richAdd
BLAST
Compositional biasi2385 – 23928Poly-Pro
Compositional biasi2707 – 27137Poly-Ala
Compositional biasi2811 – 282212Gln-richAdd
BLAST
Compositional biasi2862 – 2978117Pro-richAdd
BLAST
Compositional biasi3261 – 42751015Gln-richAdd
BLAST
Compositional biasi4241 – 4360120Pro-richAdd
BLAST
Compositional biasi4909 – 497769Pro-richAdd
BLAST
Compositional biasi5494 – 54974Poly-Ile

Domaini

LXXLL motifs 5 and 6 are essential for the association with ESR1 nuclear receptor.

Sequence similaritiesi

Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.PROSITE-ProRule annotation
Contains 1 FYR C-terminal domain.PROSITE-ProRule annotation
Contains 1 FYR N-terminal domain.PROSITE-ProRule annotation
Contains 5 PHD-type zinc fingers.PROSITE-ProRule annotation
Contains 1 post-SET domain.PROSITE-ProRule annotation
Contains 4 RING-type zinc fingers.PROSITE-ProRule annotation
Contains 1 SET domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri226 – 27651PHD-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri229 – 27446RING-type 1; atypicalPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri273 – 32351PHD-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri276 – 32146RING-type 2; degeneratePROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1377 – 143054PHD-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1427 – 147751PHD-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1504 – 155956PHD-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1507 – 155751RING-type 3; atypicalPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri5092 – 513746RING-type 4; degeneratePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Coiled coil, Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG4443. Eukaryota.
COG2940. LUCA.
GeneTreeiENSGT00760000119228.
HOVERGENiHBG006738.
InParanoidiO14686.
KOiK09187.
OMAiQSTNYAV.
OrthoDBiEOG7N63KQ.
PhylomeDBiO14686.
TreeFamiTF354317.

Family and domain databases

Gene3Di3.30.40.10. 5 hits.
InterProiIPR003889. FYrich_C.
IPR003888. FYrich_N.
IPR009071. HMG_box_dom.
IPR003616. Post-SET_dom.
IPR001214. SET_dom.
IPR011011. Znf_FYVE_PHD.
IPR001965. Znf_PHD.
IPR019787. Znf_PHD-finger.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF05965. FYRC. 1 hit.
PF05964. FYRN. 1 hit.
PF00628. PHD. 2 hits.
PF00856. SET. 1 hit.
[Graphical view]
SMARTiSM00542. FYRC. 1 hit.
SM00541. FYRN. 1 hit.
SM00398. HMG. 1 hit.
SM00249. PHD. 7 hits.
SM00508. PostSET. 1 hit.
SM00184. RING. 6 hits.
SM00317. SET. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
SSF57903. SSF57903. 5 hits.
PROSITEiPS51543. FYRC. 1 hit.
PS51542. FYRN. 1 hit.
PS50868. POST_SET. 1 hit.
PS50280. SET. 1 hit.
PS01359. ZF_PHD_1. 5 hits.
PS50016. ZF_PHD_2. 5 hits.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O14686-1) [UniParc]FASTAAdd to basket

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
MDSQKLAGED KDSEPAADGP AASEDPSATE SDLPNPHVGE VSVLSSGSPR
60 70 80 90 100
LQETPQDCSG GPVRRCALCN CGEPSLHGQR ELRRFELPFD WPRCPVVSPG
110 120 130 140 150
GSPGPNEAVL PSEDLSQIGF PEGLTPAHLG EPGGSCWAHH WCAAWSAGVW
160 170 180 190 200
GQEGPELCGV DKAIFSGISQ RCSHCTRLGA SIPCRSPGCP RLYHFPCATA
210 220 230 240 250
SGSFLSMKTL QLLCPEHSEG AAYLEEARCA VCEGPGELCD LFFCTSCGHH
260 270 280 290 300
YHGACLDTAL TARKRAGWQC PECKVCQACR KPGNDSKMLV CETCDKGYHT
310 320 330 340 350
FCLKPPMEEL PAHSWKCKAC RVCRACGAGS AELNPNSEWF ENYSLCHRCH
360 370 380 390 400
KAQGGQTIRS VAEQHTPVCS RFSPPEPGDT PTDEPDALYV ACQGQPKGGH
410 420 430 440 450
VTSMQPKEPG PLQCEAKPLG KAGVQLEPQL EAPLNEEMPL LPPPEESPLS
460 470 480 490 500
PPPEESPTSP PPEASRLSPP PEELPASPLP EALHLSRPLE ESPLSPPPEE
510 520 530 540 550
SPLSPPPESS PFSPLEESPL SPPEESPPSP ALETPLSPPP EASPLSPPFE
560 570 580 590 600
ESPLSPPPEE LPTSPPPEAS RLSPPPEESP MSPPPEESPM SPPPEASRLF
610 620 630 640 650
PPFEESPLSP PPEESPLSPP PEASRLSPPP EDSPMSPPPE ESPMSPPPEV
660 670 680 690 700
SRLSPLPVVS RLSPPPEESP LSPPPEESPT SPPPEASRLS PPPEDSPTSP
710 720 730 740 750
PPEDSPASPP PEDSLMSLPL EESPLLPLPE EPQLCPRSEG PHLSPRPEEP
760 770 780 790 800
HLSPRPEEPH LSPQAEEPHL SPQPEEPCLC AVPEEPHLSP QAEGPHLSPQ
810 820 830 840 850
PEELHLSPQT EEPHLSPVPE EPCLSPQPEE SHLSPQSEEP CLSPRPEESH
860 870 880 890 900
LSPELEKPPL SPRPEKPPEE PGQCPAPEEL PLFPPPGEPS LSPLLGEPAL
910 920 930 940 950
SEPGEPPLSP LPEELPLSPS GEPSLSPQLM PPDPLPPPLS PIITAAAPPA
960 970 980 990 1000
LSPLGELEYP FGAKGDSDPE SPLAAPILET PISPPPEANC TDPEPVPPMI
1010 1020 1030 1040 1050
LPPSPGSPVG PASPILMEPL PPQCSPLLQH SLVPQNSPPS QCSPPALPLS
1060 1070 1080 1090 1100
VPSPLSPIGK VVGVSDEAEL HEMETEKVSE PECPALEPSA TSPLPSPMGD
1110 1120 1130 1140 1150
LSCPAPSPAP ALDDFSGLGE DTAPLDGIDA PGSQPEPGQT PGSLASELKG
1160 1170 1180 1190 1200
SPVLLDPEEL APVTPMEVYP ECKQTAGQGS PCEEQEEPRA PVAPTPPTLI
1210 1220 1230 1240 1250
KSDIVNEISN LSQGDASASF PGSEPLLGSP DPEGGGSLSM ELGVSTDVSP
1260 1270 1280 1290 1300
ARDEGSLRLC TDSLPETDDS LLCDAGTAIS GGKAEGEKGR RRSSPARSRI
1310 1320 1330 1340 1350
KQGRSSSFPG RRRPRGGAHG GRGRGRARLK STASSIETLV VADIDSSPSK
1360 1370 1380 1390 1400
EEEEEDDDTM QNTVVLFSNT DKFVLMQDMC VVCGSFGRGA EGHLLACSQC
1410 1420 1430 1440 1450
SQCYHPYCVN SKITKVMLLK GWRCVECIVC EVCGQASDPS RLLLCDDCDI
1460 1470 1480 1490 1500
SYHTYCLDPP LLTVPKGGWK CKWCVSCMQC GAASPGFHCE WQNSYTHCGP
1510 1520 1530 1540 1550
CASLVTCPIC HAPYVEEDLL IQCRHCERWM HAGCESLFTE DDVEQAADEG
1560 1570 1580 1590 1600
FDCVSCQPYV VKPVAPVAPP ELVPMKVKEP EPQYFRFEGV WLTETGMALL
1610 1620 1630 1640 1650
RNLTMSPLHK RRQRRGRLGL PGEAGLEGSE PSDALGPDDK KDGDLDTDEL
1660 1670 1680 1690 1700
LKGEGGVEHM ECEIKLEGPV SPDVEPGKEE TEESKKRKRK PYRPGIGGFM
1710 1720 1730 1740 1750
VRQRKSHTRT KKGPAAQAEV LSGDGQPDEV IPADLPAEGA VEQSLAEGDE
1760 1770 1780 1790 1800
KKKQQRRGRK KSKLEDMFPA YLQEAFFGKE LLDLSRKALF AVGVGRPSFG
1810 1820 1830 1840 1850
LGTPKAKGDG GSERKELPTS QKGDDGPDIA DEESRGLEGK ADTPGPEDGG
1860 1870 1880 1890 1900
VKASPVPSDP EKPGTPGEGM LSSDLDRIST EELPKMESKD LQQLFKDVLG
1910 1920 1930 1940 1950
SEREQHLGCG TPGLEGSRTP LQRPFLQGGL PLGNLPSSSP MDSYPGLCQS
1960 1970 1980 1990 2000
PFLDSRERGG FFSPEPGEPD SPWTGSGGTT PSTPTTPTTE GEGDGLSYNQ
2010 2020 2030 2040 2050
RSLQRWEKDE ELGQLSTISP VLYANINFPN LKQDYPDWSS RCKQIMKLWR
2060 2070 2080 2090 2100
KVPAADKAPY LQKAKDNRAA HRINKVQKQA ESQINKQTKV GDIARKTDRP
2110 2120 2130 2140 2150
ALHLRIPPQP GALGSPPPAA APTIFIGSPT TPAGLSTSAD GFLKPPAGSV
2160 2170 2180 2190 2200
PGPDSPGELF LKLPPQVPAQ VPSQDPFGLA PAYPLEPRFP TAPPTYPPYP
2210 2220 2230 2240 2250
SPTGAPAQPP MLGASSRPGA GQPGEFHTTP PGTPRHQPST PDPFLKPRCP
2260 2270 2280 2290 2300
SLDNLAVPES PGVGGGKASE PLLSPPPFGE SRKALEVKKE ELGASSPSYG
2310 2320 2330 2340 2350
PPNLGFVDSP SSGTHLGGLE LKTPDVFKAP LTPRASQVEP QSPGLGLRPQ
2360 2370 2380 2390 2400
EPPPAQALAP SPPSHPDIFR PGSYTDPYAQ PPLTPRPQPP PPESCCALPP
2410 2420 2430 2440 2450
RSLPSDPFSR VPASPQSQSS SQSPLTPRPL SAEAFCPSPV TPRFQSPDPY
2460 2470 2480 2490 2500
SRPPSRPQSR DPFAPLHKPP RPQPPEVAFK AGSLAHTSLG AGGFPAALPA
2510 2520 2530 2540 2550
GPAGELHAKV PSGQPPNFVR SPGTGAFVGT PSPMRFTFPQ AVGEPSLKPP
2560 2570 2580 2590 2600
VPQPGLPPPH GINSHFGPGP TLGKPQSTNY TVATGNFHPS GSPLGPSSGS
2610 2620 2630 2640 2650
TGESYGLSPL RPPSVLPPPA PDGSLPYLSH GASQRSGITS PVEKREDPGT
2660 2670 2680 2690 2700
GMGSSLATAE LPGTQDPGMS GLSQTELEKQ RQRQRLRELL IRQQIQRNTL
2710 2720 2730 2740 2750
RQEKETAAAA AGAVGPPGSW GAEPSSPAFE QLSRGQTPFA GTQDKSSLVG
2760 2770 2780 2790 2800
LPPSKLSGPI LGPGSFPSDD RLSRPPPPAT PSSMDVNSRQ LVGGSQAFYQ
2810 2820 2830 2840 2850
RAPYPGSLPL QQQQQQLWQQ QQATAATSMR FAMSARFPST PGPELGRQAL
2860 2870 2880 2890 2900
GSPLAGISTR LPGPGEPVPG PAGPAQFIEL RHNVQKGLGP GGTPFPGQGP
2910 2920 2930 2940 2950
PQRPRFYPVS EDPHRLAPEG LRGLAVSGLP PQKPSAPPAP ELNNSLHPTP
2960 2970 2980 2990 3000
HTKGPTLPTG LELVNRPPSS TELGRPNPLA LEAGKLPCED PELDDDFDAH
3010 3020 3030 3040 3050
KALEDDEELA HLGLGVDVAK GDDELGTLEN LETNDPHLDD LLNGDEFDLL
3060 3070 3080 3090 3100
AYTDPELDTG DKKDIFNEHL RLVESANEKA EREALLRGVE PGPLGPEERP
3110 3120 3130 3140 3150
PPAADASEPR LASVLPEVKP KVEEGGRHPS PCQFTIATPK VEPAPAANSL
3160 3170 3180 3190 3200
GLGLKPGQSM MGSRDTRMGT GPFSSSGHTA EKASFGATGG PPAHLLTPSP
3210 3220 3230 3240 3250
LSGPGGSSLL EKFELESGAL TLPGGPAASG DELDKMESSL VASELPLLIE
3260 3270 3280 3290 3300
DLLEHEKKEL QKKQQLSAQL QPAQQQQQQQ QQHSLLSAPG PAQAMSLPHE
3310 3320 3330 3340 3350
GSSPSLAGSQ QQLSLGLAGA RQPGLPQPLM PTQPPAHALQ QRLAPSMAMV
3360 3370 3380 3390 3400
SNQGHMLSGQ HGGQAGLVPQ QSSQPVLSQK PMGTMPPSMC MKPQQLAMQQ
3410 3420 3430 3440 3450
QLANSFFPDT DLDKFAAEDI IDPIAKAKMV ALKGIKKVMA QGSIGVAPGM
3460 3470 3480 3490 3500
NRQQVSLLAQ RLSGGPSSDL QNHVAAGSGQ ERSAGDPSQP RPNPPTFAQG
3510 3520 3530 3540 3550
VINEADQRQY EEWLFHTQQL LQMQLKVLEE QIGVHRKSRK ALCAKQRTAK
3560 3570 3580 3590 3600
KAGREFPEAD AEKLKLVTEQ QSKIQKQLDQ VRKQQKEHTN LMAEYRNKQQ
3610 3620 3630 3640 3650
QQQQQQQQQQ QQHSAVLALS PSQSPRLLTK LPGQLLPGHG LQPPQGPPGG
3660 3670 3680 3690 3700
QAGGLRLTPG GMALPGQPGG PFLNTALAQQ QQQQHSGGAG SLAGPSGGFF
3710 3720 3730 3740 3750
PGNLALRSLG PDSRLLQERQ LQLQQQRMQL AQKLQQQQQQ QQQQQHLLGQ
3760 3770 3780 3790 3800
VAIQQQQQQG PGVQTNQALG PKPQGLMPPS SHQGLLVQQL SPQPPQGPQG
3810 3820 3830 3840 3850
MLGPAQVAVL QQQHPGALGP QGPHRQVLMT QSRVLSSPQL AQQGQGLMGH
3860 3870 3880 3890 3900
RLVTAQQQQQ QQQHQQQGSM AGLSHLQQSL MSHSGQPKLS AQPMGSLQQL
3910 3920 3930 3940 3950
QQQQQLQQQQ QLQQQQQQQL QQQQQLQQQQ LQQQQQQQQL QQQQQQQLQQ
3960 3970 3980 3990 4000
QQQQLQQQQQ QQQQQFQQQQ QQQQMGLLNQ SRTLLSPQQQ QQQQVALGPG
4010 4020 4030 4040 4050
MPAKPLQHFS SPGALGPTLL LTGKEQNTVD PAVSSEATEG PSTHQGGPLA
4060 4070 4080 4090 4100
IGTTPESMAT EPGEVKPSLS GDSQLLLVQP QPQPQPSSLQ LQPPLRLPGQ
4110 4120 4130 4140 4150
QQQQVSLLHT AGGGSHGQLG SGSSSEASSV PHLLAQPSVS LGDQPGSMTQ
4160 4170 4180 4190 4200
NLLGPQQPML ERPMQNNTGP QPPKPGPVLQ SGQGLPGVGI MPTVGQLRAQ
4210 4220 4230 4240 4250
LQGVLAKNPQ LRHLSPQQQQ QLQALLMQRQ LQQSQAVRQT PPYQEPGTQT
4260 4270 4280 4290 4300
SPLQGLLGCQ PQLGGFPGPQ TGPLQELGAG PRPQGPPRLP APPGALSTGP
4310 4320 4330 4340 4350
VLGPVHPTPP PSSPQEPKRP SQLPSPSSQL PTEAQLPPTH PGTPKPQGPT
4360 4370 4380 4390 4400
LEPPPGRVSP AAAQLADTLF SKGLGPWDPP DNLAETQKPE QSSLVPGHLD
4410 4420 4430 4440 4450
QVNGQVVPEA SQLSIKQEPR EEPCALGAQS VKREANGEPI GAPGTSNHLL
4460 4470 4480 4490 4500
LAGPRSEAGH LLLQKLLRAK NVQLSTGRGS EGLRAEINGH IDSKLAGLEQ
4510 4520 4530 4540 4550
KLQGTPSNKE DAAARKPLTP KPKRVQKASD RLVSSRKKLR KEDGVRASEA
4560 4570 4580 4590 4600
LLKQLKQELS LLPLTEPAIT ANFSLFAPFG SGCPVNGQSQ LRGAFGSGAL
4610 4620 4630 4640 4650
PTGPDYYSQL LTKNNLSNPP TPPSSLPPTP PPSVQQKMVN GVTPSEELGE
4660 4670 4680 4690 4700
HPKDAASARD SERALRDTSE VKSLDLLAAL PTPPHNQTED VRMESDEDSD
4710 4720 4730 4740 4750
SPDSIVPASS PESILGEEAP RFPHLGSGRW EQEDRALSPV IPLIPRASIP
4760 4770 4780 4790 4800
VFPDTKPYGA LGLEVPGKLP VTTWEKGKGS EVSVMLTVSA AAAKNLNGVM
4810 4820 4830 4840 4850
VAVAELLSMK IPNSYEVLFP ESPARAGTEP KKGEAEGPGG KEKGLEGKSP
4860 4870 4880 4890 4900
DTGPDWLKQF DAVLPGYTLK SQLDILSLLK QESPAPEPPT QHSYTYNVSN
4910 4920 4930 4940 4950
LDVRQLSAPP PEEPSPPPSP LAPSPASPPT EPLVELPTEP LAEPPVPSPL
4960 4970 4980 4990 5000
PLASSPESAR PKPRARPPEE GEDSRPPRLK KWKGVRWKRL RLLLTIQKGS
5010 5020 5030 5040 5050
GRQEDEREVA EFMEQLGTAL RPDKVPRDMR RCCFCHEEGD GATDGPARLL
5060 5070 5080 5090 5100
NLDLDLWVHL NCALWSTEVY ETQGGALMNV EVALHRGLLT KCSLCQRTGA
5110 5120 5130 5140 5150
TSSCNRMRCP NVYHFACAIR AKCMFFKDKT MLCPMHKIKG PCEQELSSFA
5160 5170 5180 5190 5200
VFRRVYIERD EVKQIASIIQ RGERLHMFRV GGLVFHAIGQ LLPHQMADFH
5210 5220 5230 5240 5250
SATALYPVGY EATRIYWSLR TNNRRCCYRC SIGENNGRPE FVIKVIEQGL
5260 5270 5280 5290 5300
EDLVFTDASP QAVWNRIIEP VAAMRKEADM LRLFPEYLKG EELFGLTVHA
5310 5320 5330 5340 5350
VLRIAESLPG VESCQNYLFR YGRHPLMELP LMINPTGCAR SEPKILTHYK
5360 5370 5380 5390 5400
RPHTLNSTSM SKAYQSTFTG ETNTPYSKQF VHSKSSQYRR LRTEWKNNVY
5410 5420 5430 5440 5450
LARSRIQGLG LYAAKDLEKH TMVIEYIGTI IRNEVANRRE KIYEEQNRGI
5460 5470 5480 5490 5500
YMFRINNEHV IDATLTGGPA RYINHSCAPN CVAEVVTFDK EDKIIIISSR
5510 5520 5530
RIPKGEELTY DYQFDFEDDQ HKIPCHCGAW NCRKWMN
Length:5,537
Mass (Da):593,389
Last modified:November 30, 2010 - v2
Checksum:i31C6DAB0A754F72A
GO
Isoform 3 (identifier: O14686-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1729-1729: E → EGET

Show »
Length:5,540
Mass (Da):593,677
Checksum:iBB9AC95AA8BC0DD4
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti5 – 51K → N in AAC51734 (PubMed:9247308).Curated
Sequence conflicti14 – 141E → Q in AAC51734 (PubMed:9247308).Curated
Sequence conflicti75 – 751S → A in AAC51734 (PubMed:9247308).Curated
Sequence conflicti156 – 1561E → Q in AAC51734 (PubMed:9247308).Curated
Sequence conflicti674 – 948275Missing in AAC51734 (PubMed:9247308).CuratedAdd
BLAST
Sequence conflicti1178 – 11781Q → R in AAC51734 (PubMed:9247308).Curated
Sequence conflicti1178 – 11781Q → R in AAC51735 (PubMed:9247308).Curated
Sequence conflicti1544 – 15474EQAA → DHAP in AAC51734 (PubMed:9247308).Curated
Sequence conflicti1544 – 15474EQAA → DHAP in AAC51735 (PubMed:9247308).Curated
Sequence conflicti1761 – 17611K → R in AAC51734 (PubMed:9247308).Curated
Sequence conflicti1761 – 17611K → R in AAC51735 (PubMed:9247308).Curated
Sequence conflicti1766 – 17661D → G in AAC51734 (PubMed:9247308).Curated
Sequence conflicti1766 – 17661D → G in AAC51735 (PubMed:9247308).Curated
Sequence conflicti2171 – 21711V → A in AAC51734 (PubMed:9247308).Curated
Sequence conflicti2171 – 21711V → A in AAC51735 (PubMed:9247308).Curated
Sequence conflicti2413 – 24131A → V in AAC51734 (PubMed:9247308).Curated
Sequence conflicti2413 – 24131A → V in AAC51735 (PubMed:9247308).Curated
Sequence conflicti3079 – 30791K → E in AAC51734 (PubMed:9247308).Curated
Sequence conflicti3079 – 30791K → E in AAC51735 (PubMed:9247308).Curated
Sequence conflicti3287 – 32871S → P in AAC51734 (PubMed:9247308).Curated
Sequence conflicti3287 – 32871S → P in AAC51735 (PubMed:9247308).Curated
Sequence conflicti3319 – 33191G → V in AAC51734 (PubMed:9247308).Curated
Sequence conflicti3319 – 33191G → V in AAC51735 (PubMed:9247308).Curated
Sequence conflicti3422 – 34221D → G in AAC51734 (PubMed:9247308).Curated
Sequence conflicti3422 – 34221D → G in AAC51735 (PubMed:9247308).Curated
Sequence conflicti4478 – 44781R → Q in AAC51734 (PubMed:9247308).Curated
Sequence conflicti4478 – 44781R → Q in AAC51735 (PubMed:9247308).Curated
Sequence conflicti4747 – 47471A → D in AAC51734 (PubMed:9247308).Curated
Sequence conflicti4747 – 47471A → D in AAC51735 (PubMed:9247308).Curated
Sequence conflicti4793 – 47931A → D in AAC51734 (PubMed:9247308).Curated
Sequence conflicti4793 – 47931A → D in AAC51735 (PubMed:9247308).Curated
Sequence conflicti4826 – 48261A → G in AAC51734 (PubMed:9247308).Curated
Sequence conflicti4826 – 48261A → G in AAC51735 (PubMed:9247308).Curated
Sequence conflicti4865 – 48651P → A in AAC51734 (PubMed:9247308).Curated
Sequence conflicti4865 – 48651P → A in AAC51735 (PubMed:9247308).Curated
Sequence conflicti4871 – 48711S → R in AAC51734 (PubMed:9247308).Curated
Sequence conflicti4871 – 48711S → R in AAC51735 (PubMed:9247308).Curated
Sequence conflicti4893 – 48931S → R in AAC51734 (PubMed:9247308).Curated
Sequence conflicti4893 – 48931S → R in AAC51735 (PubMed:9247308).Curated
Sequence conflicti4974 – 49741S → T in AAC51734 (PubMed:9247308).Curated
Sequence conflicti4974 – 49741S → T in AAC51735 (PubMed:9247308).Curated
Sequence conflicti5116 – 51161A → G in AAC51734 (PubMed:9247308).Curated
Sequence conflicti5116 – 51161A → G in AAC51735 (PubMed:9247308).Curated
Sequence conflicti5522 – 55221K → E in AAC51734 (PubMed:9247308).Curated
Sequence conflicti5522 – 55221K → E in AAC51735 (PubMed:9247308).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti170 – 1701Q → H in KABUK1; unknown pathological significance. 1 Publication
VAR_074216
Natural varianti170 – 1701Q → L in KABUK1; unknown pathological significance. 1 Publication
VAR_074217
Natural varianti337 – 3371S → L in KABUK1; unknown pathological significance. 1 Publication
VAR_074218
Natural varianti476 – 4761A → T.
Corresponds to variant rs1064210 [ dbSNP | Ensembl ].
VAR_057359
Natural varianti543 – 5431S → L in KABUK1; unknown pathological significance. 1 Publication
VAR_074219
Natural varianti647 – 6471P → Q in KABUK1. 2 Publications
VAR_074220
Natural varianti692 – 6921P → T.1 Publication
Corresponds to variant rs202076833 [ dbSNP | Ensembl ].
VAR_064370
Natural varianti813 – 8131P → L.1 Publication
Corresponds to variant rs75226229 [ dbSNP | Ensembl ].
VAR_064371
Natural varianti1192 – 11921V → M in KABUK1; unknown pathological significance. 1 Publication
VAR_074221
Natural varianti1258 – 12581R → Q in KABUK1; unknown pathological significance. 1 Publication
VAR_074222
Natural varianti1376 – 13761M → R in KABUK1; unknown pathological significance. 1 Publication
VAR_074223
Natural varianti1380 – 13801C → R in KABUK1; unknown pathological significance. 1 Publication
VAR_074224
Natural varianti1388 – 13881R → L in KABUK1; unknown pathological significance. 1 Publication
VAR_074225
Natural varianti1417 – 14171M → V in KABUK1; unknown pathological significance. 1 Publication
VAR_074226
Natural varianti1418 – 14181L → M in KABUK1; unknown pathological significance. 1 Publication
VAR_074227
Natural varianti1423 – 14231R → C in KABUK1; unknown pathological significance. 1 Publication
VAR_074228
Natural varianti1424 – 14241C → F in KABUK1; unknown pathological significance. 1 Publication
VAR_074229
Natural varianti1430 – 14301C → R in KABUK1; unknown pathological significance. 1 Publication
VAR_074230
Natural varianti1445 – 14451C → G in KABUK1; unknown pathological significance. 1 Publication
VAR_074231
Natural varianti1453 – 14531H → R in KABUK1; unknown pathological significance. 1 Publication
VAR_074232
Natural varianti1471 – 14711C → R in KABUK1; unknown pathological significance. 1 Publication
VAR_074233
Natural varianti1471 – 14711C → Y in KABUK1; unknown pathological significance. 1 Publication
VAR_074234
Natural varianti1522 – 15221Q → R in KABUK1; unknown pathological significance. 1 Publication
VAR_074235
Natural varianti1526 – 15261C → F in KABUK1; unknown pathological significance. 1 Publication
VAR_074236
Natural varianti1718 – 17181A → V in KABUK1; unknown pathological significance. 1 Publication
VAR_074237
Natural varianti2382 – 23821P → S.1 Publication
Corresponds to variant rs3741626 [ dbSNP | Ensembl ].
VAR_064372
Natural varianti2460 – 24601R → C.1 Publication
VAR_064373
Natural varianti2557 – 25571P → L.2 Publications
Corresponds to variant rs189888707 [ dbSNP | Ensembl ].
VAR_064374
Natural varianti2652 – 26521M → L.1 Publication
VAR_074238
Natural varianti2841 – 28411P → T in KABUK1; unknown pathological significance. 1 Publication