SETD5
entrez
55209
canonical
uniprot
Q9C0A6
canonical
ensembl
ENSG00000168137
resolver
ensp
ENSP00000384114
resolver
ensp
ENSP00000385852
resolver
ensp
ENSP00000507953
resolver
ensp
ENSP00000507956
resolver
ensp
ENSP00000536964
resolver
ensp
ENSP00000536965
resolver
enst
ENST00000407969
resolver
enst
ENST00000682536
resolver
genesymbol
SETD5
resolver
genesymbol_syn
KIAA1757
resolver
hgnc
HGNC:25566
resolver
uniprot
A0A804HKJ9
resolver
uniprot
E7EWN3
resolver
uniprot
Q6AI17
resolver
uniprot
Q8WUB6
resolver
uniprot
Q9H3X4
resolver
uniprot
Q9H6V7
resolver
uniprot
Q9H7S3
resolver
uniprot
Q9NVI9
resolver
uniprot_entry
A0A804HKJ9_HUMAN
resolver
uniprot_entry
E7EWN3_HUMAN
resolver
uniprot_entry
SETD5_HUMAN
resolver
uniprot_sec
Q6AI17
resolver
uniprot_sec
Q8WUB6
resolver
uniprot_sec
Q9H3X4
resolver
uniprot_sec
Q9H6V7
resolver
uniprot_sec
Q9H7S3
resolver
uniprot_sec
Q9NVI9
resolver
amino_acid_sequence
MSIAIPLGVTTSDTSYSDMAAGSDPESVEASPAVNEKSVYSTHNYGTTQRHGCRGLPYATIIPRSDLNGLPSPVEERCGDSPNSEGETVPTWCPCGLSQDGFLLNCDKCRGMSRGKVIRLHRRKQDNISGGDSSATESWDEELSPSTVLYTATQHTPTSITLTVRRTKPKKRKKSPEKGRAAPKTKKIKNSPSEAQNLDENTTEGWENRIRLWTDQYEEAFTNQYSADVQNALEQHLHSSKEFVGKPTILDTINKTELACNNTVIGSQMQLQLGRVTRVQKHRKILRAARDLALDTLIIEYRGKVMLRQQFEVNGHFFKKPYPFVLFYSKFNGVEMCVDARTFGNDARFIRRSCTPNAEVRHMIADGMIHLCIYAVSAITKDAEVTIAFDYEYSNCNYKVDCACHKGNRNCPIQKRNPNATELPLLPPPPSLPTIGAETRRRKARRKELEMEQQNEASEENNDQQSQEVPEKVTVSSDHEEVDNPEEKPEEEKEEVIDDQENLAHSRRTREDRKVEAIMHAFENLEKRKKRRDQPLEQSNSDVEITTTTSETPVGEETKTEAPESEVSNSVSNVTIPSTPQSVGVNTRRSSQAGDIAAEKLVPKPPPAKPSRPRPKSRISRYRTSSAQRLKRQKQANAQQAELSQAALEEGGSNSLVTPTEAGSLDSSGENRPLTGSDPTVVSITGSHVNRAASKYPKTKKYLVTEWLNDKAEKQECPVECPLRITTDPTVLATTLNMLPGLIHSPLICTTPKHYIRFGSPFIPERRRRPLLPDGTFSSCKKRWIKQALEEGMTQTSSVPQETRTQHLYQSNENSSSSSICKDNADLLSPLKKWKSRYLMEQNVTKLLRPLSPVTPPPPNSGSKSPQLATPGSSHPGEEECRNGYSLMFSPVTSLTTASRCNTPLQFELCHRKDLDLAKVGYLDSNTNSCADRPSLLNSGHSDLAPHPSLGPTSETGFPSRSGDGHQTLVRNSDQAFRTEFNLMYAYSPLNAMPRADGLYRGSPLVGDRKPLHLDGGYCSPAEGFSSRYEHGLMKDLSRGSLSPGGERACEGVPSAPQNPPQRKKVSLLEYRKRKQEAKENSAGGGGDSAQSKSKSAGAGQGSSNSVSDTGAHGVQGSSARTPSSPHKKFSPSHSSMSHLEAVSPSDSRGTSSSHCRPQENISSRWMVPTSVERLREGGSIPKVLRSSVRVAQKGEPSPTWESNITEKDSDPADGEGPETLSSALSKGATVYSPSRYSYQLLQCDSPRTESQSLLQQSSSPFRGHPTQSPGYSYRTTALRPGNPPSHGSSESSLSSTSYSSPAHPVSTDSLAPFTGTPGYFSSQPHSGNSTGSNLPRRSCPSSAASPTLQGPSDSPTSDSVSQSSTGTLSSTSFPQNSRSSLPSDLRTISLPSAGQSAVYQASRVSAVSNSQHYPHRGSGGVHQYRLQPLQGSGVKTQTGLS
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal dominant 23 (MRD23) [MIM:615761]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD23 patients manifest moderate to severe intellectual disability with additional variable features of brachycephaly, a low hairline, depressed nasal bridge, prominent high nasal root, tubular nose, upslanting palpebral fissures, long and smooth philtrum, micrognathia, thin upper lip, and crowded teeth. Behavioral problems, including obsessive-compulsive disorder, hand flapping with ritualized behavior, and autism, are prominent features. {ECO:0000269|PubMed:24680889, ECO:0000269|PubMed:25138099, ECO:0000269|PubMed:27375234, ECO:0000269|PubMed:28549204, ECO:0000269|PubMed:28881385, ECO:0000269|PubMed:28905509}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.359
uniprot
proteins
ec_number
2.1.1.367
uniprot
proteins
function
FUNCTION: Chromatin regulator required for brain development: acts as a regulator of RNA elongation rate, thereby regulating neural stem cell (NSC) proliferation and synaptic transmission. May act by mediating trimethylation of 'Lys-36' of histone H3 (H3K36me3), which is essential to allow on-time RNA elongation dynamics. Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro. The relevance of histone methyltransferase activity is however subject to discussion. {ECO:0000250|UniProtKB:Q5XJV7}.
uniprot
proteins
mass_dalton
157515
uniprot
proteins
pubmed
11214970
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22939622
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24680889
uniprot
proteins
pubmed
25138099
uniprot
proteins
pubmed
27375234
uniprot
proteins
pubmed
28549204
uniprot
proteins
pubmed
28881385
uniprot
proteins
pubmed
28905509
uniprot
proteins
sequence_length
1442
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q5XJV7}. Chromosome {ECO:0000250|UniProtKB:Q5XJV7}. Note=Localizes to active transcribed genes. {ECO:0000250|UniProtKB:Q5XJV7}.
uniprot
proteins