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UniProtKB - Q8NEZ4 (KMT2C_HUMAN)

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Protein

Histone-lysine N-methyltransferase 2C

Gene

KMT2C

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. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. KMT2C/MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder.1 Publication

Miscellaneous

Found in a critical region of chromosome 7, which is commonly deleted in malignant myeloid disorders. Partial duplication of the KMT2C gene are found in the juxtacentromeric region of chromosomes 1, 2, 13 and 21. Juxtacentromeric reshuffling of the KMT2C gene has generated the BAGE genes.

Catalytic activityi

S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N6-methyl-L-lysine-[histone].1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei4825S-adenosyl-L-methioninePROSITE-ProRule annotation1
Metal bindingi4851ZincBy similarity1
Metal bindingi4899ZincBy similarity1
Metal bindingi4901ZincBy similarity1
Metal bindingi4906ZincBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi34 – 46A.T hookAdd BLAST13
Zinc fingeri227 – 262C2HC pre-PHD-type 1; degeneratePROSITE-ProRule annotationAdd BLAST36
Zinc fingeri283 – 331PHD-type 1PROSITE-ProRule annotationAdd BLAST49
Zinc fingeri341 – 391PHD-type 2PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri344 – 389RING-typePROSITE-ProRule annotationAdd BLAST46
Zinc fingeri388 – 438PHD-type 3PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri464 – 520PHD-type 4PROSITE-ProRule annotationAdd BLAST57
Zinc fingeri957 – 1010PHD-type 5PROSITE-ProRule annotationAdd BLAST54
Zinc fingeri1007 – 1057PHD-type 6PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri1084 – 1139PHD-type 7PROSITE-ProRule annotationAdd BLAST56
Zinc fingeri4399 – 4439C2HC pre-PHD-type 2PROSITE-ProRule annotationAdd BLAST41
Zinc fingeri4460 – 4507PHD-type 8PROSITE-ProRule annotationAdd BLAST48

GO - Molecular functioni

Complete GO annotation...

GO - Biological processi

Complete GO annotation...

Keywordsi

Molecular functionActivator, Acyltransferase, Chromatin regulator, DNA-binding, Methyltransferase, Transferase
Biological processTranscription, Transcription regulation
LigandMetal-binding, S-adenosyl-L-methionine, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-3214841. PKMTs methylate histone lysines.
R-HSA-5617472. Activation of anterior HOX genes in hindbrain development during early embryogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Histone-lysine N-methyltransferase 2C (EC:2.1.1.43)
Short name:
Lysine N-methyltransferase 2C
Alternative name(s):
Homologous to ALR protein
Myeloid/lymphoid or mixed-lineage leukemia protein 3
Gene namesi
Name:KMT2C
Synonyms:HALR, KIAA1506, MLL3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:13726. KMT2C.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi58508.
OpenTargetsiENSG00000055609.
PharmGKBiPA30847.

Chemistry databases

ChEMBLiCHEMBL2189113.

Polymorphism and mutation databases

BioMutaiKMT2C.
DMDMi221222521.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001248791 – 4911Histone-lysine N-methyltransferase 2CAdd BLAST4911

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei28PhosphoserineCombined sources1
Modified residuei46PhosphoserineCombined sources1
Modified residuei89PhosphoserineCombined sources1
Modified residuei113PhosphoserineCombined sources1
Modified residuei200PhosphoserineCombined sources1
Modified residuei758N6-acetyllysineCombined sources1
Modified residuei854PhosphoserineCombined sources1
Modified residuei1301PhosphoserineCombined sources1
Modified residuei1508N6-acetyllysineCombined sources1
Modified residuei1772N6-acetyllysineCombined sources1
Modified residuei1987PhosphoserineCombined sources1
Modified residuei2009N6-acetyllysineCombined sources1
Modified residuei2454Asymmetric dimethylarginineBy similarity1
Modified residuei2571Asymmetric dimethylarginineBy similarity1
Modified residuei2802N6-acetyllysineCombined sources1
Modified residuei2809N6-acetyllysineCombined sources1
Modified residuei2828PhosphoserineCombined sources1
Modified residuei2832N6-acetyllysineCombined sources1
Modified residuei2867N6-acetyllysineBy similarity1
Modified residuei3714N6-acetyllysineCombined sources1
Modified residuei3758PhosphoserineCombined sources1
Modified residuei4034PhosphoserineCombined sources1
Modified residuei4139Asymmetric dimethylarginineBy similarity1
Modified residuei4267PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Lipoprotein, Methylation, Palmitate, Phosphoprotein

Proteomic databases

EPDiQ8NEZ4.
MaxQBiQ8NEZ4.
PaxDbiQ8NEZ4.
PeptideAtlasiQ8NEZ4.
PRIDEiQ8NEZ4.

PTM databases

iPTMnetiQ8NEZ4.
PhosphoSitePlusiQ8NEZ4.

Expressioni

Tissue specificityi

Highly expressed in testis and ovary, followed by brain and liver. Also expressed in placenta, peripherical blood, fetal thymus, heart, lung and kidney. Within brain, expression was highest in hippocampus, caudate nucleus, and substantia nigra. Not detected in skeletal muscle and fetal liver.

Gene expression databases

BgeeiENSG00000055609.
CleanExiHS_MLL3.
ExpressionAtlasiQ8NEZ4. baseline and differential.
GenevisibleiQ8NEZ4. HS.

Organism-specific databases

HPAiHPA074736.

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 histone H3.2 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi121835. 24 interactors.
DIPiDIP-48649N.
IntActiQ8NEZ4. 18 interactors.
MINTiMINT-3042700.
STRINGi9606.ENSP00000262189.

Chemistry databases

BindingDBiQ8NEZ4.

Structurei

Secondary structure

14911
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni345 – 347Combined sources3
Turni353 – 355Combined sources3
Beta strandi356 – 358Combined sources3
Beta strandi360 – 362Combined sources3
Turni368 – 372Combined sources5
Turni377 – 379Combined sources3
Turni386 – 388Combined sources3
Turni392 – 394Combined sources3
Beta strandi403 – 405Combined sources3
Beta strandi407 – 409Combined sources3
Beta strandi412 – 414Combined sources3
Helixi415 – 417Combined sources3
Beta strandi418 – 420Combined sources3
Helixi433 – 436Combined sources4
Helixi1636 – 1645Combined sources10
Helixi1646 – 1648Combined sources3
Beta strandi1650 – 1652Combined sources3
Helixi1653 – 1660Combined sources8
Helixi1664 – 1667Combined sources4
Helixi1671 – 1684Combined sources14
Helixi1687 – 1706Combined sources20
Beta strandi4707 – 4709Combined sources3
Helixi4758 – 4768Combined sources11
Helixi4769 – 4771Combined sources3
Beta strandi4773 – 4777Combined sources5
Beta strandi4779 – 4789Combined sources11
Beta strandi4796 – 4800Combined sources5
Beta strandi4802 – 4806Combined sources5
Helixi4807 – 4817Combined sources11
Turni4818 – 4821Combined sources4
Beta strandi4826 – 4828Combined sources3
Beta strandi4830 – 4841Combined sources12
Helixi4843 – 4846Combined sources4
Beta strandi4854 – 4862Combined sources9
Beta strandi4865 – 4874Combined sources10
Beta strandi4908 – 4910Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YSMNMR-A342-439[»]
2YUKNMR-A1631-1713[»]
3UVLX-ray2.20B4707-4717[»]
4ERYX-ray1.30D4703-4716[»]
5F59X-ray2.80A4757-4910[»]
5F6KX-ray2.41C/E4757-4911[»]
ProteinModelPortaliQ8NEZ4.
SMRiQ8NEZ4.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8NEZ4.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini436 – 489DHHCPROSITE-ProRule annotationAdd BLAST54
Domaini4545 – 4605FYR N-terminalPROSITE-ProRule annotationAdd BLAST61
Domaini4606 – 4691FYR C-terminalPROSITE-ProRule annotationAdd BLAST86
Domaini4771 – 4887SETPROSITE-ProRule annotationAdd BLAST117
Domaini4895 – 4911Post-SETPROSITE-ProRule annotationAdd BLAST17

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni4848 – 4849S-adenosyl-L-methionine bindingBy similarity2

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili92 – 112Sequence analysisAdd BLAST21
Coiled coili644 – 672Sequence analysisAdd BLAST29
Coiled coili1338 – 1366Sequence analysisAdd BLAST29
Coiled coili1754 – 1787Sequence analysisAdd BLAST34
Coiled coili3054 – 3081Sequence analysisAdd BLAST28
Coiled coili3173 – 3272Sequence analysisAdd BLAST100
Coiled coili3391 – 3433Sequence analysisAdd BLAST43

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1719 – 1796Gln-richAdd BLAST78
Compositional biasi1834 – 2281Pro-richAdd BLAST448
Compositional biasi2412 – 2630Pro-richAdd BLAST219
Compositional biasi2690 – 2786Asp-richAdd BLAST97
Compositional biasi3012 – 3509Gln-richAdd BLAST498
Compositional biasi3277 – 3381Pro-richAdd BLAST105

Domaini

The SET domain interacts with histone H3 but not H2A, H2B and H4, and may have a H3 lysine specific methylation activity.

Sequence similaritiesi

Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri227 – 262C2HC pre-PHD-type 1; degeneratePROSITE-ProRule annotationAdd BLAST36
Zinc fingeri283 – 331PHD-type 1PROSITE-ProRule annotationAdd BLAST49
Zinc fingeri341 – 391PHD-type 2PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri344 – 389RING-typePROSITE-ProRule annotationAdd BLAST46
Zinc fingeri388 – 438PHD-type 3PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri464 – 520PHD-type 4PROSITE-ProRule annotationAdd BLAST57
Zinc fingeri957 – 1010PHD-type 5PROSITE-ProRule annotationAdd BLAST54
Zinc fingeri1007 – 1057PHD-type 6PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri1084 – 1139PHD-type 7PROSITE-ProRule annotationAdd BLAST56
Zinc fingeri4399 – 4439C2HC pre-PHD-type 2PROSITE-ProRule annotationAdd BLAST41
Zinc fingeri4460 – 4507PHD-type 8PROSITE-ProRule annotationAdd BLAST48

Keywords - Domaini

Coiled coil, Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG4443. Eukaryota.
COG2940. LUCA.
GeneTreeiENSGT00760000119228.
HOVERGENiHBG045586.
InParanoidiQ8NEZ4.
KOiK09188.
OMAiMACQKMA.
OrthoDBiEOG091G000H.
PhylomeDBiQ8NEZ4.
TreeFamiTF354317.

Family and domain databases

Gene3Di3.30.40.10. 6 hits.
InterProiView protein in InterPro
IPR034732. EPHD.
IPR003889. FYrich_C.
IPR003888. FYrich_N.
IPR009071. HMG_box_dom.
IPR000637. HMGI/Y_DNA-bd_CS.
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.
PfamiView protein in Pfam
PF05965. FYRC. 1 hit.
PF05964. FYRN. 1 hit.
PF00628. PHD. 2 hits.
PF00856. SET. 1 hit.
SMARTiView protein in SMART
SM00542. FYRC. 1 hit.
SM00541. FYRN. 1 hit.
SM00398. HMG. 1 hit.
SM00249. PHD. 8 hits.
SM00508. PostSET. 1 hit.
SM00184. RING. 4 hits.
SM00317. SET. 1 hit.
SUPFAMiSSF47095. SSF47095. 1 hit.
SSF57903. SSF57903. 6 hits.
PROSITEiView protein in PROSITE
PS50216. DHHC. 1 hit.
PS51805. EPHD. 2 hits.
PS51543. FYRC. 1 hit.
PS51542. FYRN. 1 hit.
PS00354. HMGI_Y. 1 hit.
PS50868. POST_SET. 1 hit.
PS50280. SET. 1 hit.
PS01359. ZF_PHD_1. 5 hits.
PS50016. ZF_PHD_2. 6 hits.
PS50089. ZF_RING_2. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8NEZ4-1) [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
MSSEEDKSVE QPQPPPPPPE EPGAPAPSPA AADKRPRGRP RKDGASPFQR 
        60         70         80         90        100
ARKKPRSRGK TAVEDEDSMD GLETTETETI VETEIKEQSA EEDAEAEVDN 
       110        120        130        140        150
SKQLIPTLQR SVSEESANSL VSVGVEAKIS EQLCAFCYCG EKSSLGQGDL 
       160        170        180        190        200
KQFRITPGFI LPWRNQPSNK KDIDDNSNGT YEKMQNSAPR KQRGQRKERS 
       210        220        230        240        250
PQQNIVSCVS VSTQTASDDQ AGKLWDELSL VGLPDAIDIQ ALFDSTGTCW 
       260        270        280        290        300
AHHRCVEWSL GVCQMEEPLL VNVDKAVVSG STERCAFCKH LGATIKCCEE 
       310        320        330        340        350
KCTQMYHYPC AAGAGTFQDF SHIFLLCPEH IDQAPERSKE DANCAVCDSP 
       360        370        380        390        400
GDLLDQFFCT TCGQHYHGMC LDIAVTPLKR AGWQCPECKV CQNCKQSGED 
       410        420        430        440        450
SKMLVCDTCD KGYHTFCLQP VMKSVPTNGW KCKNCRICIE CGTRSSSQWH 
       460        470        480        490        500
HNCLICDNCY QQQDNLCPFC GKCYHPELQK DMLHCNMCKR WVHLECDKPT 
       510        520        530        540        550
DHELDTQLKE EYICMYCKHL GAEMDRLQPG EEVEIAELTT DYNNEMEVEG 
       560        570        580        590        600
PEDQMVFSEQ AANKDVNGQE STPGIVPDAV QVHTEEQQKS HPSESLDTDS 
       610        620        630        640        650
LLIAVSSQHT VNTELEKQIS NEVDSEDLKM SSEVKHICGE DQIEDKMEVT 
       660        670        680        690        700
ENIEVVTHQI TVQQEQLQLL EEPETVVSRE ESRPPKLVME SVTLPLETLV 
       710        720        730        740        750
SPHEESISLC PEEQLVIERL QGEKEQKENS ELSTGLMDSE MTPTIEGCVK 
       760        770        780        790        800
DVSYQGGKSI KLSSETESSF SSSADISKAD VSSSPTPSSD LPSHDMLHNY 
       810        820        830        840        850
PSALSSSAGN IMPTTYISVT PKIGMGKPAI TKRKFSPGRP RSKQGAWSTH 
       860        870        880        890        900
NTVSPPSWSP DISEGREIFK PRQLPGSAIW SIKVGRGSGF PGKRRPRGAG 
       910        920        930        940        950
LSGRGGRGRS KLKSGIGAVV LPGVSTADIS SNKDDEENSM HNTVVLFSSS 
       960        970        980        990       1000
DKFTLNQDMC VVCGSFGQGA EGRLLACSQC GQCYHPYCVS IKITKVVLSK 
      1010       1020       1030       1040       1050
GWRCLECTVC EACGKATDPG RLLLCDDCDI SYHTYCLDPP LQTVPKGGWK 
      1060       1070       1080       1090       1100
CKWCVWCRHC GATSAGLRCE WQNNYTQCAP CASLSSCPVC YRNYREEDLI 
      1110       1120       1130       1140       1150
LQCRQCDRWM HAVCQNLNTE EEVENVADIG FDCSMCRPYM PASNVPSSDC 
      1160       1170       1180       1190       1200
CESSLVAQIV TKVKELDPPK TYTQDGVCLT ESGMTQLQSL TVTVPRRKRS 
      1210       1220       1230       1240       1250
KPKLKLKIIN QNSVAVLQTP PDIQSEHSRD GEMDDSREGE LMDCDGKSES 
      1260       1270       1280       1290       1300
SPEREAVDDE TKGVEGTDGV KKRKRKPYRP GIGGFMVRQR SRTGQGKTKR 
      1310       1320       1330       1340       1350
SVIRKDSSGS ISEQLPCRDD GWSEQLPDTL VDESVSVTES TEKIKKRYRK 
      1360       1370       1380       1390       1400
RKNKLEETFP AYLQEAFFGK DLLDTSRQSK ISLDNLSEDG AQLLYKTNMN 
      1410       1420       1430       1440       1450
TGFLDPSLDP LLSSSSAPTK SGTHGPADDP LADISEVLNT DDDILGIISD 
      1460       1470       1480       1490       1500
DLAKSVDHSD IGPVTDDPSS LPQPNVNQSS RPLSEEQLDG ILSPELDKMV 
      1510       1520       1530       1540       1550
TDGAILGKLY KIPELGGKDV EDLFTAVLSP ANTQPTPLPQ PPPPTQLLPI 
      1560       1570       1580       1590       1600
HNQDAFSRMP LMNGLIGSSP HLPHNSLPPG SGLGTFSAIA QSSYPDARDK 
      1610       1620       1630       1640       1650
NSAFNPMASD PNNSWTSSAP TVEGENDTMS NAQRSTLKWE KEEALGEMAT 
      1660       1670       1680       1690       1700
VAPVLYTNIN FPNLKEEFPD WTTRVKQIAK LWRKASSQER APYVQKARDN 
      1710       1720       1730       1740       1750
RAALRINKVQ MSNDSMKRQQ QQDSIDPSSR IDSELFKDPL KQRESEHEQE 
      1760       1770       1780       1790       1800
WKFRQQMRQK SKQQAKIEAT QKLEQVKNEQ QQQQQQQFGS QHLLVQSGSD 
      1810       1820       1830       1840       1850
TPSSGIQSPL TPQPGNGNMS PAQSFHKELF TKQPPSTPTS TSSDDVFVKP 
      1860       1870       1880       1890       1900
QAPPPPPAPS RIPIQDSLSQ AQTSQPPSPQ VFSPGSSNSR PPSPMDPYAK 
      1910       1920       1930       1940       1950
MVGTPRPPPV GHSFSRRNSA APVENCTPLS SVSRPLQMNE TTANRPSPVR 
      1960       1970       1980       1990       2000
DLCSSSTTNN DPYAKPPDTP RPVMTDQFPK SLGLSRSPVV SEQTAKGPIA 
      2010       2020       2030       2040       2050
AGTSDHFTKP SPRADVFQRQ RIPDSYARPL LTPAPLDSGP GPFKTPMQPP 
      2060       2070       2080       2090       2100
PSSQDPYGSV SQASRRLSVD PYERPALTPR PIDNFSHNQS NDPYSQPPLT 
      2110       2120       2130       2140       2150
PHPAVNESFA HPSRAFSQPG TISRPTSQDP YSQPPGTPRP VVDSYSQSSG 
      2160       2170       2180       2190       2200
TARSNTDPYS QPPGTPRPTT VDPYSQQPQT PRPSTQTDLF VTPVTNQRHS 
      2210       2220       2230       2240       2250
DPYAHPPGTP RPGISVPYSQ PPATPRPRIS EGFTRSSMTR PVLMPNQDPF 
      2260       2270       2280       2290       2300
LQAAQNRGPA LPGPLVRPPD TCSQTPRPPG PGLSDTFSRV SPSAARDPYD 
      2310       2320       2330       2340       2350
QSPMTPRSQS DSFGTSQTAH DVADQPRPGS EGSFCASSNS PMHSQGQQFS 
      2360       2370       2380       2390       2400
GVSQLPGPVP TSGVTDTQNT VNMAQADTEK LRQRQKLREI ILQQQQQKKI 
      2410       2420       2430       2440       2450
AGRQEKGSQD SPAVPHPGPL QHWQPENVNQ AFTRPPPPYP GNIRSPVAPP 
      2460       2470       2480       2490       2500
LGPRYAVFPK DQRGPYPPDV ASMGMRPHGF RFGFPGGSHG TMPSQERFLV 
      2510       2520       2530       2540       2550
PPQQIQGSGV SPQLRRSVSV DMPRPLNNSQ MNNPVGLPQH FSPQSLPVQQ 
      2560       2570       2580       2590       2600
HNILGQAYIE LRHRAPDGRQ RLPFSAPPGS VVEASSNLRH GNFIPRPDFP 
      2610       2620       2630       2640       2650
GPRHTDPMRR PPQGLPNQLP VHPDLEQVPP SQQEQGHSVH SSSMVMRTLN 
      2660       2670       2680       2690       2700
HPLGGEFSEA PLSTSVPSET TSDNLQITTQ PSDGLEEKLD SDDPSVKELD 
      2710       2720       2730       2740       2750
VKDLEGVEVK DLDDEDLENL NLDTEDGKVV ELDTLDNLET NDPNLDDLLR 
      2760       2770       2780       2790       2800
SGEFDIIAYT DPELDMGDKK SMFNEELDLP IDDKLDNQCV SVEPKKKEQE 
      2810       2820       2830       2840       2850
NKTLVLSDKH SPQKKSTVTN EVKTEVLSPN SKVESKCETE KNDENKDNVD 
      2860       2870       2880       2890       2900
TPCSQASAHS DLNDGEKTSL HPCDPDLFEK RTNRETAGPS ANVIQASTQL 
      2910       2920       2930       2940       2950
PAQDVINSCG ITGSTPVLSS LLANEKSDNS DIRPSGSPPP PTLPASPSNH 
      2960       2970       2980       2990       3000
VSSLPPFIAP PGRVLDNAMN SNVTVVSRVN HVFSQGVQVN PGLIPGQSTV 
      3010       3020       3030       3040       3050
NHSLGTGKPA TQTGPQTSQS GTSSMSGPQQ LMIPQTLAQQ NRERPLLLEE 
      3060       3070       3080       3090       3100
QPLLLQDLLD QERQEQQQQR QMQAMIRQRS EPFFPNIDFD AITDPIMKAK 
      3110       3120       3130       3140       3150
MVALKGINKV MAQNNLGMPP MVMSRFPFMG QVVTGTQNSE GQNLGPQAIP 
      3160       3170       3180       3190       3200
QDGSITHQIS RPNPPNFGPG FVNDSQRKQY EEWLQETQQL LQMQQKYLEE 
      3210       3220       3230       3240       3250
QIGAHRKSKK ALSAKQRTAK KAGREFPEED AEQLKHVTEQ QSMVQKQLEQ 
      3260       3270       3280       3290       3300
IRKQQKEHAE LIEDYRIKQQ QQCAMAPPTM MPSVQPQPPL IPGATPPTMS 
      3310       3320       3330       3340       3350
QPTFPMVPQQ LQHQQHTTVI SGHTSPVRMP SLPGWQPNSA PAHLPLNPPR 
      3360       3370       3380       3390       3400
IQPPIAQLPI KTCTPAPGTV SNANPQSGPP PRVEFDDNNP FSESFQERER 
      3410       3420       3430       3440       3450
KERLREQQER QRIQLMQEVD RQRALQQRME MEQHGMVGSE ISSSRTSVSQ 
      3460       3470       3480       3490       3500
IPFYSSDLPC DFMQPLGPLQ QSPQHQQQMG QVLQQQNIQQ GSINSPSTQT 
      3510       3520       3530       3540       3550
FMQTNERRQV GPPSFVPDSP SIPVGSPNFS SVKQGHGNLS GTSFQQSPVR 
      3560       3570       3580       3590       3600
PSFTPALPAA PPVANSSLPC GQDSTITHGH SYPGSTQSLI QLYSDIIPEE 
      3610       3620       3630       3640       3650
KGKKKRTRKK KRDDDAESTK APSTPHSDIT APPTPGISET TSTPAVSTPS 
      3660       3670       3680       3690       3700
ELPQQADQES VEPVGPSTPN MAAGQLCTEL ENKLPNSDFS QATPNQQTYA 
      3710       3720       3730       3740       3750
NSEVDKLSME TPAKTEEIKL EKAETESCPG QEEPKLEEQN GSKVEGNAVA 
      3760       3770       3780       3790       3800
CPVSSAQSPP HSAGAPAAKG DSGNELLKHL LKNKKSSSLL NQKPEGSICS 
      3810       3820       3830       3840       3850
EDDCTKDNKL VEKQNPAEGL QTLGAQMQGG FGCGNQLPKT DGGSETKKQR 
      3860       3870       3880       3890       3900
SKRTQRTGEK AAPRSKKRKK DEEEKQAMYS STDTFTHLKQ QNNLSNPPTP 
      3910       3920       3930       3940       3950
PASLPPTPPP MACQKMANGF ATTEELAGKA GVLVSHEVTK TLGPKPFQLP 
      3960       3970       3980       3990       4000
FRPQDDLLAR ALAQGPKTVD VPASLPTPPH NNQEELRIQD HCGDRDTPDS 
      4010       4020       4030       4040       4050
FVPSSSPESV VGVEVSRYPD LSLVKEEPPE PVPSPIIPIL PSTAGKSSES 
      4060       4070       4080       4090       4100
RRNDIKTEPG TLYFASPFGP SPNGPRSGLI SVAITLHPTA AENISSVVAA 
      4110       4120       4130       4140       4150
FSDLLHVRIP NSYEVSSAPD VPSMGLVSSH RINPGLEYRQ HLLLRGPPPG 
      4160       4170       4180       4190       4200
SANPPRLVSS YRLKQPNVPF PPTSNGLSGY KDSSHGIAES AALRPQWCCH 
      4210       4220       4230       4240       4250
CKVVILGSGV RKSFKDLTLL NKDSRESTKR VEKDIVFCSN NCFILYSSTA 
      4260       4270       4280       4290       4300
QAKNSENKES IPSLPQSPMR ETPSKAFHQY SNNISTLDVH CLPQLPEKAS 
      4310       4320       4330       4340       4350
PPASPPIAFP PAFEAAQVEA KPDELKVTVK LKPRLRAVHG GFEDCRPLNK 
      4360       4370       4380       4390       4400
KWRGMKWKKW SIHIVIPKGT FKPPCEDEID EFLKKLGTSL KPDPVPKDYR 
      4410       4420       4430       4440       4450
KCCFCHEEGD GLTDGPARLL NLDLDLWVHL NCALWSTEVY ETQAGALINV 
      4460       4470       4480       4490       4500
ELALRRGLQM KCVFCHKTGA TSGCHRFRCT NIYHFTCAIK AQCMFFKDKT 
      4510       4520       4530       4540       4550
MLCPMHKPKG IHEQELSYFA VFRRVYVQRD EVRQIASIVQ RGERDHTFRV 
      4560       4570       4580       4590       4600
GSLIFHTIGQ LLPQQMQAFH SPKALFPVGY EASRLYWSTR YANRRCRYLC 
      4610       4620       4630       4640       4650
SIEEKDGRPV FVIRIVEQGH EDLVLSDISP KGVWDKILEP VACVRKKSEM 
      4660       4670       4680       4690       4700
LQLFPAYLKG EDLFGLTVSA VARIAESLPG VEACENYTFR YGRNPLMELP 
      4710       4720       4730       4740       4750
LAVNPTGCAR SEPKMSAHVK RFVLRPHTLN STSTSKSFQS TVTGELNAPY 
      4760       4770       4780       4790       4800
SKQFVHSKSS QYRKMKTEWK SNVYLARSRI QGLGLYAARD IEKHTMVIEY 
      4810       4820       4830       4840       4850
IGTIIRNEVA NRKEKLYESQ NRGVYMFRMD NDHVIDATLT GGPARYINHS 
      4860       4870       4880       4890       4900
CAPNCVAEVV TFERGHKIII SSSRRIQKGE ELCYDYKFDF EDDQHKIPCH 
      4910 
CGAVNCRKWM N
Length:4,911
Mass (Da):541,370
Last modified:January 20, 2009 - v3
Checksum:i898CEE324772BD75
GO
Isoform 2 (identifier: Q8NEZ4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-939: Missing.
     3890-3890: Q → QVRQLSLLPLMEPIIGVNFAHFLPYGSGQFNSGNRLLGTFGSATLEGVSDYYSQLIYK
     4721-4724: Missing.

Note: No experimental confirmation available.
Show »
Length:4,025
Mass (Da):443,538
Checksum:i41624149C28E4BDE
GO
Isoform 3 (identifier: Q8NEZ4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3890-3890: Q → QVRQLSLLPLMEPIIGVNFAHFLPYGSGQFNSGNRLLGTFGSATLEGVSDYYSQLIYK

Note: No experimental confirmation available.
Show »
Length:4,968
Mass (Da):547,633
Checksum:i7D6E36D9FA78714B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti579A → T in AAK00583 (PubMed:11891048).Curated1
Sequence conflicti1286M → V in AAK00583 (PubMed:11891048).Curated1
Sequence conflicti2360P → S in AAK00583 (PubMed:11891048).Curated1
Sequence conflicti2797K → R in AAK00583 (PubMed:11891048).Curated1
Sequence conflicti2882T → A in AAK00583 (PubMed:11891048).Curated1
Sequence conflicti3289P → S in BAC11409 (PubMed:14702039).Curated1
Sequence conflicti3428R → W in BAC11409 (PubMed:14702039).Curated1
Sequence conflicti4613I → V in AK022687 (PubMed:14702039).Curated1
Sequence conflicti4866H → P in AK022687 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061911291L → F. Corresponds to variant dbSNP:rs56850341Ensembl.1
Natural variantiVAR_061912316T → S. Corresponds to variant dbSNP:rs10454320Ensembl.1
Natural variantiVAR_036311347C → G in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_036312400D → N in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_036313478L → W in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_057360526R → P1 PublicationCorresponds to variant dbSNP:rs3735156Ensembl.1
Natural variantiVAR_017118823I → N. Corresponds to variant dbSNP:rs2838171Ensembl.1
Natural variantiVAR_017117823I → T. Corresponds to variant dbSNP:rs2838171Ensembl.1
Natural variantiVAR_0573611836S → N. Corresponds to variant dbSNP:rs11771635Ensembl.1
Natural variantiVAR_0573622008T → A. Corresponds to variant dbSNP:rs6951159Ensembl.1
Natural variantiVAR_0573632412P → T. Corresponds to variant dbSNP:rs13231116Ensembl.1
Natural variantiVAR_0573642600P → A. Corresponds to variant dbSNP:rs2270234Ensembl.1
Natural variantiVAR_0363143698T → S in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0085611 – 939Missing in isoform 2. 1 PublicationAdd BLAST939
Alternative sequenceiVSP_0085623890Q → QVRQLSLLPLMEPIIGVNFA HFLPYGSGQFNSGNRLLGTF GSATLEGVSDYYSQLIYK in isoform 2 and isoform 3. 1 Publication1
Alternative sequenceiVSP_0362234721 – 4724Missing in isoform 2. 1 Publication4

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY024361 mRNA. Translation: AAK00583.1.
AF264750 mRNA. Translation: AAF74766.2.
AC006017 Genomic DNA. Translation: AAD45822.1.
AC104692 Genomic DNA. No translation available.
AC005631 Genomic DNA. No translation available.
AB040939 mRNA. Translation: BAA96030.2.
AK022687 mRNA. No translation available.
AK075113 mRNA. Translation: BAC11409.1.
AL833924 mRNA. Translation: CAD38780.1.
CCDSiCCDS5931.1. [Q8NEZ4-1]
RefSeqiNP_733751.2. NM_170606.2. [Q8NEZ4-1]
UniGeneiHs.647120.

Genome annotation databases

EnsembliENST00000262189; ENSP00000262189; ENSG00000055609. [Q8NEZ4-1]
ENST00000355193; ENSP00000347325; ENSG00000055609. [Q8NEZ4-1]
GeneIDi58508.
KEGGihsa:58508.
UCSCiuc003wla.3. human. [Q8NEZ4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiKMT2C_HUMAN
AccessioniPrimary (citable) accession number: Q8NEZ4
Secondary accession number(s): Q8NC02
, Q8NDF6, Q9H9P4, Q9NR13, Q9P222, Q9UDR7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: January 20, 2009
Last modified: July 5, 2017
This is version 161 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families