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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)DescriptionActionsGraphical viewLength
Binding sitei5451S-adenosyl-L-methioninePROSITE-ProRule annotation1
Metal bindingi5477ZincBy similarity1
Metal bindingi5525ZincBy similarity1
Metal bindingi5527ZincBy similarity1
Metal bindingi5532ZincBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri104 – 149C2HC pre-PHD-type 1; degeneratePROSITE-ProRule annotationAdd BLAST46
Zinc fingeri170 – 218PHD-type 1PROSITE-ProRule annotationAdd BLAST49
Zinc fingeri226 – 276PHD-type 2PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri229 – 274RING-type 1; atypicalPROSITE-ProRule annotationAdd BLAST46
Zinc fingeri273 – 323PHD-type 3PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri276 – 321RING-type 2; degeneratePROSITE-ProRule annotationAdd BLAST46
Zinc fingeri1377 – 1430PHD-type 4PROSITE-ProRule annotationAdd BLAST54
Zinc fingeri1427 – 1477PHD-type 5PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri1504 – 1559PHD-type 6PROSITE-ProRule annotationAdd BLAST56
Zinc fingeri1507 – 1557RING-type 3; atypicalPROSITE-ProRule annotationAdd BLAST51
Zinc fingeri5029 – 5069C2HC pre-PHD-type 2PROSITE-ProRule annotationAdd BLAST41
Zinc fingeri5090 – 5137PHD-type 7PROSITE-ProRule annotationAdd BLAST48

GO - Molecular functioni

GO - Biological processi

  • beta-catenin-TCF complex assembly Source: Reactome
  • chromatin silencing Source: UniProtKB
  • histone H3-K4 methylation Source: UniProtKB
  • 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

BioCyciZFISH:HS09574-MONOMER.
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.
SIGNORiO14686.

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_074216170Q → H in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_074217170Q → L in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_074218337S → L in KABUK1; unknown pathological significance. 1 PublicationCorresponds to variant rs200245957dbSNPEnsembl.1
Natural variantiVAR_074219543S → L in KABUK1; unknown pathological significance. 1 PublicationCorresponds to variant rs776242478dbSNPEnsembl.1
Natural variantiVAR_074220647P → Q in KABUK1. 2 PublicationsCorresponds to variant rs200088180dbSNPEnsembl.1
Natural variantiVAR_0742211192V → M in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742221258R → Q in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742231376M → R in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742241380C → R in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742251388R → L in KABUK1; unknown pathological significance. 1 PublicationCorresponds to variant rs202217665dbSNPEnsembl.1
Natural variantiVAR_0742261417M → V in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742271418L → M in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742281423R → C in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742291424C → F in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742301430C → R in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742311445C → G in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742321453H → R in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742331471C → R in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742341471C → Y in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742351522Q → R in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742361526C → F in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742371718A → V in KABUK1; unknown pathological significance. 1 PublicationCorresponds to variant rs111266743dbSNPEnsembl.1
Natural variantiVAR_0742392841P → T in KABUK1; unknown pathological significance. 1 PublicationCorresponds to variant rs763347763dbSNPEnsembl.1
Natural variantiVAR_0742403876L → R in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742413897L → S in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742434353P → L in KABUK1; unknown pathological significance. 1 PublicationCorresponds to variant rs778418522dbSNPEnsembl.1
Natural variantiVAR_0742444420R → Q in KABUK1; unknown pathological significance. 1 PublicationCorresponds to variant rs375999143dbSNPEnsembl.1
Natural variantiVAR_0742455028D → E in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742465030R → C in KABUK1. 2 Publications1
Natural variantiVAR_0742475034F → V in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742485040D → G in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742495047A → V in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742505048R → C in KABUK1. 4 PublicationsCorresponds to variant rs398123724dbSNPEnsembl.1
Natural variantiVAR_0742515048R → H in KABUK1. 2 Publications1
Natural variantiVAR_0742525059H → P in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0638305109C → F in KABUK1. 2 Publications1
Natural variantiVAR_0742535154R → Q in KABUK1. 2 Publications1
Natural variantiVAR_0638315179R → H in KABUK1. 3 PublicationsCorresponds to variant rs267607237dbSNPEnsembl.1
Natural variantiVAR_0742545189G → R in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0643785210Y → C in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742555214R → C in KABUK1. 3 Publications1
Natural variantiVAR_0638325214R → H in KABUK1. 2 PublicationsCorresponds to variant rs398123729dbSNPEnsembl.1
Natural variantiVAR_0638335340R → L in KABUK1. 2 Publications1
Natural variantiVAR_0742565340R → Q in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742575351R → Q in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0643795428G → D in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742585432R → W in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0638345464T → M in KABUK1. 2 PublicationsCorresponds to variant rs267607238dbSNPEnsembl.1
Natural variantiVAR_0742595471R → T in KABUK1. 2 Publications1
Natural variantiVAR_0742605481C → Y in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742615498S → F in KABUK1. 2 Publications1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi8085.
MalaCardsiKMT2D.
MIMi147920. phenotype.
OpenTargetsiENSG00000167548.
Orphaneti2322. Kabuki syndrome.
PharmGKBiPA30846.

Chemistry databases

ChEMBLiCHEMBL2189114.

Polymorphism and mutation databases

BioMutaiKMT2D.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001248781 – 5537Histone-lysine N-methyltransferase 2DAdd BLAST5537

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei27PhosphoserineCombined sources1
Modified residuei744PhosphoserineBy similarity1
Modified residuei1151PhosphoserineCombined sources1
Modified residuei1195PhosphothreonineCombined sources1
Modified residuei1249PhosphoserineCombined sources1
Modified residuei1267PhosphothreonineBy similarity1
Modified residuei1270PhosphoserineBy similarity1
Modified residuei1606PhosphoserineCombined sources1
Modified residuei1671PhosphoserineCombined sources1
Modified residuei1820PhosphoserineCombined sources1
Modified residuei1834PhosphoserineCombined sources1
Modified residuei1843PhosphothreonineCombined sources1
Modified residuei1865PhosphothreonineBy similarity1
Modified residuei2239PhosphoserineCombined sources1
Modified residuei2240PhosphothreonineCombined sources1
Modified residuei2246N6-acetyllysineCombined sources1
Modified residuei2260PhosphoserineCombined sources1
Modified residuei2274PhosphoserineCombined sources1
Modified residuei2309PhosphoserineCombined sources1
Modified residuei2311PhosphoserineCombined sources1
Modified residuei2342PhosphoserineBy similarity1
Modified residuei2535Asymmetric dimethylarginineBy similarity1
Modified residuei2640PhosphoserineCombined sources1
Modified residuei2836Asymmetric dimethylarginineBy similarity1
Modified residuei3079N6-acetyllysineCombined sources1
Modified residuei3130PhosphoserineCombined sources1
Modified residuei3197PhosphothreonineCombined sources1
Modified residuei3199PhosphoserineCombined sources1
Modified residuei3433N6-acetyllysineCombined sources1
Modified residuei3727Asymmetric dimethylarginineCombined sources1
Modified residuei4198Asymmetric dimethylarginineBy similarity1
Modified residuei4215PhosphoserineCombined sources1
Modified residuei4359PhosphoserineCombined sources1
Modified residuei4465N6-acetyllysineCombined sources1
Modified residuei4738PhosphoserineCombined sources1
Cross-linki4756Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei4776N6-acetyllysineCombined sources1
Modified residuei4822PhosphoserineCombined sources1
Modified residuei4849PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiO14686.
MaxQBiO14686.
PaxDbiO14686.
PeptideAtlasiO14686.
PRIDEiO14686.

PTM databases

iPTMnetiO14686.
PhosphoSitePlusiO14686.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000167548.
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. 33 interactors.
DIPiDIP-37875N.
IntActiO14686. 22 interactors.
MINTiMINT-1192941.
STRINGi9606.ENSP00000301067.

Chemistry databases

BindingDBiO14686.

Structurei

Secondary structure

15537
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi5339 – 5341Combined sources3
Helixi5384 – 5398Combined sources15
Beta strandi5399 – 5403Combined sources5
Beta strandi5405 – 5415Combined sources11
Beta strandi5422 – 5425Combined sources4
Beta strandi5428 – 5432Combined sources5
Helixi5433 – 5444Combined sources12
Turni5445 – 5447Combined sources3
Beta strandi5452 – 5454Combined sources3
Beta strandi5456 – 5462Combined sources7
Turni5464 – 5466Combined sources3
Helixi5469 – 5472Combined sources4
Beta strandi5480 – 5488Combined sources9
Beta strandi5491 – 5500Combined sources10
Beta strandi5516 – 5520Combined sources5
Beta strandi5534 – 5536Combined sources3

3D structure databases

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

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati442 – 44615
Repeati460 – 46425
Repeati469 – 47335
Repeati496 – 50045
Repeati504 – 50855
Repeati521 – 52565
Repeati555 – 55975
Repeati564 – 56885
Repeati573 – 57795
Repeati582 – 586105
Repeati609 – 613115
Repeati618 – 622125
Repeati627 – 631135
Repeati645 – 649145
Repeati663 – 667155
Domaini5175 – 5235FYR N-terminalPROSITE-ProRule annotationAdd BLAST61
Domaini5236 – 5321FYR C-terminalPROSITE-ProRule annotationAdd BLAST86
Domaini5397 – 5513SETPROSITE-ProRule annotationAdd BLAST117
Domaini5521 – 5537Post-SETPROSITE-ProRule annotationAdd BLAST17

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni439 – 66815 X 5 AA repeats of S/P-P-P-E/P-E/AAdd BLAST230
Regioni5474 – 5475S-adenosyl-L-methionine bindingBy similarity2

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili2669 – 2707Sequence analysisAdd BLAST39
Coiled coili3249 – 3282Sequence analysisAdd BLAST34
Coiled coili3562 – 3614Sequence analysisAdd BLAST53
Coiled coili3714 – 3750Sequence analysisAdd BLAST37
Coiled coili3897 – 3975Sequence analysisAdd BLAST79

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi2686 – 2690LXXLL motif 15
Motifi3038 – 3042LXXLL motif 25
Motifi4222 – 4236LXXLL motif 3Add BLAST15
Motifi4253 – 4257LXXLL motif 45
Motifi4463 – 4467LXXLL motif 55
Motifi4990 – 4994LXXLL motif 65

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi229 – 326Cys-richAdd BLAST98
Compositional biasi374 – 1197Pro-richAdd BLAST824
Compositional biasi1290 – 1328Arg-richAdd BLAST39
Compositional biasi1351 – 1355Poly-Glu5
Compositional biasi1397 – 1510Cys-richAdd BLAST114
Compositional biasi2107 – 2626Pro-richAdd BLAST520
Compositional biasi2385 – 2392Poly-Pro8
Compositional biasi2707 – 2713Poly-Ala7
Compositional biasi2811 – 2822Gln-richAdd BLAST12
Compositional biasi2862 – 2978Pro-richAdd BLAST117
Compositional biasi3261 – 4275Gln-richAdd BLAST1015
Compositional biasi4241 – 4360Pro-richAdd BLAST120
Compositional biasi4909 – 4977Pro-richAdd BLAST69
Compositional biasi5494 – 5497Poly-Ile4

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 2 C2HC pre-PHD-type zinc fingers.PROSITE-ProRule annotation
Contains 1 FYR C-terminal domain.PROSITE-ProRule annotation
Contains 1 FYR N-terminal domain.PROSITE-ProRule annotation
Contains 7 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)DescriptionActionsGraphical viewLength
Zinc fingeri104 – 149C2HC pre-PHD-type 1; degeneratePROSITE-ProRule annotationAdd BLAST46
Zinc fingeri170 – 218PHD-type 1PROSITE-ProRule annotationAdd BLAST49
Zinc fingeri226 – 276PHD-type 2PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri229 – 274RING-type 1; atypicalPROSITE-ProRule annotationAdd BLAST46
Zinc fingeri273 – 323PHD-type 3PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri276 – 321RING-type 2; degeneratePROSITE-ProRule annotationAdd BLAST46
Zinc fingeri1377 – 1430PHD-type 4PROSITE-ProRule annotationAdd BLAST54
Zinc fingeri1427 – 1477PHD-type 5PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri1504 – 1559PHD-type 6PROSITE-ProRule annotationAdd BLAST56
Zinc fingeri1507 – 1557RING-type 3; atypicalPROSITE-ProRule annotationAdd BLAST51
Zinc fingeri5029 – 5069C2HC pre-PHD-type 2PROSITE-ProRule annotationAdd BLAST41
Zinc fingeri5090 – 5137PHD-type 7PROSITE-ProRule annotationAdd BLAST48

Keywords - Domaini

Coiled coil, Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG4443. Eukaryota.
COG2940. LUCA.
GeneTreeiENSGT00760000119228.
HOVERGENiHBG006738.
InParanoidiO14686.
KOiK09187.
OMAiDTRMGTG.
OrthoDBiEOG091G000T.
PhylomeDBiO14686.
TreeFamiTF354317.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
3.30.40.10. 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.
PROSITEiPS51805. EPHD. 2 hits.
PS51543. 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)DescriptionActionsGraphical viewLength
Sequence conflicti5K → N in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti14E → Q in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti75S → A in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti156E → Q in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti674 – 948Missing in AAC51734 (PubMed:9247308).CuratedAdd BLAST275
Sequence conflicti1178Q → R in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti1178Q → R in AAC51735 (PubMed:9247308).Curated1
Sequence conflicti1544 – 1547EQAA → DHAP in AAC51734 (PubMed:9247308).Curated4
Sequence conflicti1544 – 1547EQAA → DHAP in AAC51735 (PubMed:9247308).Curated4
Sequence conflicti1761K → R in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti1761K → R in AAC51735 (PubMed:9247308).Curated1
Sequence conflicti1766D → G in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti1766D → G in AAC51735 (PubMed:9247308).Curated1
Sequence conflicti2171V → A in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti2171V → A in AAC51735 (PubMed:9247308).Curated1
Sequence conflicti2413A → V in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti2413A → V in AAC51735 (PubMed:9247308).Curated1
Sequence conflicti3079K → E in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti3079K → E in AAC51735 (PubMed:9247308).Curated1
Sequence conflicti3287S → P in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti3287S → P in AAC51735 (PubMed:9247308).Curated1
Sequence conflicti3319G → V in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti3319G → V in AAC51735 (PubMed:9247308).Curated1
Sequence conflicti3422D → G in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti3422D → G in AAC51735 (PubMed:9247308).Curated1
Sequence conflicti4478R → Q in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti4478R → Q in AAC51735 (PubMed:9247308).Curated1
Sequence conflicti4747A → D in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti4747A → D in AAC51735 (PubMed:9247308).Curated1
Sequence conflicti4793A → D in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti4793A → D in AAC51735 (PubMed:9247308).Curated1
Sequence conflicti4826A → G in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti4826A → G in AAC51735 (PubMed:9247308).Curated1
Sequence conflicti4865P → A in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti4865P → A in AAC51735 (PubMed:9247308).Curated1
Sequence conflicti4871S → R in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti4871S → R in AAC51735 (PubMed:9247308).Curated1
Sequence conflicti4893S → R in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti4893S → R in AAC51735 (PubMed:9247308).Curated1
Sequence conflicti4974S → T in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti4974S → T in AAC51735 (PubMed:9247308).Curated1
Sequence conflicti5116A → G in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti5116A → G in AAC51735 (PubMed:9247308).Curated1
Sequence conflicti5522K → E in AAC51734 (PubMed:9247308).Curated1
Sequence conflicti5522K → E in AAC51735 (PubMed:9247308).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074216170Q → H in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_074217170Q → L in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_074218337S → L in KABUK1; unknown pathological significance. 1 PublicationCorresponds to variant rs200245957dbSNPEnsembl.1
Natural variantiVAR_057359476A → T.Corresponds to variant rs1064210dbSNPEnsembl.1
Natural variantiVAR_074219543S → L in KABUK1; unknown pathological significance. 1 PublicationCorresponds to variant rs776242478dbSNPEnsembl.1
Natural variantiVAR_074220647P → Q in KABUK1. 2 PublicationsCorresponds to variant rs200088180dbSNPEnsembl.1
Natural variantiVAR_064370692P → T.1 PublicationCorresponds to variant rs202076833dbSNPEnsembl.1
Natural variantiVAR_064371813P → L.1 PublicationCorresponds to variant rs75226229dbSNPEnsembl.1
Natural variantiVAR_0742211192V → M in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742221258R → Q in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742231376M → R in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742241380C → R in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742251388R → L in KABUK1; unknown pathological significance. 1 PublicationCorresponds to variant rs202217665dbSNPEnsembl.1
Natural variantiVAR_0742261417M → V in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742271418L → M in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742281423R → C in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742291424C → F in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742301430C → R in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742311445C → G in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742321453H → R in KABUK1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0742331471C → R in KABUK1; unknown pathological significance. 1 Publication