KMT2D_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
KMT2D
, ALR, MLL2, MLL4
Protein names and data:
KMT2D_HUMAN
, Histone-lysine N-methyltransferase 2D; Lysine N-methyltransferase 2D; 2.1.1.43
, ALL1-related protein; Myeloid/lymphoid or mixed-lineage leukemia protein 2
Lenght: 5537 a.a.
Mass: 593389 Da
fasta formatted sequence
Function:
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.
Catalytic activity:
S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
Disease:
( OMIM:
147920
602113
)
Kabuki syndrome 1 (KABUK1) [MIM:147920]: A 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Nucleus (Probable).
Tissue specificity:
Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.
Genetic variants
476 - 476
A -> T (in dbSNP:rs1064210). VAR_057359
1064210
692 - 692
P -> T (in dbSNP:rs202076833). VAR_064370
202076833
813 - 813
P -> L (in dbSNP:rs75226229). VAR_064371
75226229
2382 - 2382
P -> S (in dbSNP:rs3741626). VAR_064372
3741626
2460 - 2460
R -> C. VAR_064373
2557 - 2557
P -> L (in dbSNP:rs189888707). VAR_064374
189888707
3398 - 3398
M -> V (in dbSNP:rs75937132). VAR_064375
75937132
3419 - 3419
D -> G (in dbSNP:rs146044282). VAR_064376
146044282
4357 - 4357
R -> S. VAR_064377
5109 - 5109
C -> F (in KABUK1). VAR_063830
5179 - 5179
R -> H (in KABUK1). VAR_063831
5210 - 5210
Y -> C (in KABUK1). VAR_064378
5214 - 5214
R -> H (in KABUK1). VAR_063832
5224 - 5224
R -> H (in dbSNP:rs3782356). VAR_017115
3782356
5340 - 5340
R -> L (in KABUK1). VAR_063833
5428 - 5428
G -> D (in KABUK1). VAR_064379
5464 - 5464
T -> M (in KABUK1). VAR_063834
Database cross-references
UniProt:
O14686
Ensembl:
ENST00000301067
MIM:
147920
MIM:
602113
neXtProt:
NX_O14686
Antibodypedia:
O14686
(may not find the protein thus also not any antibody)
Local full text data:
click here
Users' comments
Login to add a comment.