| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 64324 |
Name | NSD1 |
Synonym | ARA267|KMT3B|SOTOS|STO;nuclear receptor binding SET domain protein 1;NSD1;nuclear receptor binding SET domain protein 1 |
Definition | H3-K36-HMTase|H4-K20-HMTase|NR-binding SET domain-containing protein|androgen receptor coactivator 267 kDa protein|androgen receptor-associated coregulator 267|androgen receptor-associated protein of 267 kDa|histone-lysine N-methyltransferase, H3 lysine-3 |
Position | 5q35 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Lysine degradation;KEGG PATHWAY;hsa00310 |
Disease | Autistic disorder;FunDO |
Disease | Mental retardation;FunDO |
Disease | congenital anomalies;GAD |
Disease | Leukemia, acute myeloid;OMIM |
Disease | DEVELOPMENTAL;GAD |
Disease | Beckwith-Wiedemann syndrome;FunDO |
Disease | Leukemia;FunDO |
Disease | Weaver syndrome;OMIM |
Disease | Beckwith-Wiedemann syndrome;OMIM |
Disease | Attention deficit hyperactivity disorder;FunDO |
Disease | Sotos syndrome;OMIM |
External Links | |
Links to Entrez Gene | 64324 |
Links to all GeneRIF Items | 64324 |
Links to iHOP | 64324 |
Sequence Information | |
Nucleotide Sequence | >64324 : length: 8091 atggatcagacctgtgaactacccagaagaaattgtctgctgcccttttccaatccagtg aatttagatgcccctgaagacaaggacagccctttcggtaatggtcaatccaatttttct gagccacttaatgggtgtactatgcagttatcgactgtcagtggaacatcccaaaatgct tatggacaagattctccatcttgttacattccactgcggagactacaggatttggcctcc atgatcaatgtagagtatttaaatgggtctgctgatggatcagaatcctttcaagaccct gaaaaaagtgattcaagagctcagacgccaattgtttgcacttccttgagtcctggtggt cctacagcacttgctatgaaacaggaaccctcttgtaataactcccctgaactccaggta aaagtaacaaagactatcaagaatggctttctgcactttgagaattttacttgtgtggac gatgcagatgtagattctgaaatggacccagaacagccagtcacagaggatgagagtata gaggagatctttgaggaaactcagaccaatgccacctgcaattatgagactaaatcagag aatggtgtaaaagtggccatgggaagtgaacaagacagcacaccagagagtagacacggt gcagtcaaatcgccattcttgccattagctcctcagactgaaacacagaaaaataagcaa agaaatgaagtggacggcagcaatgaaaaagcagcccttctcccagcccccttttcacta ggagacacaaacattacaatagaagagcaattaaactcaataaatttatcttttcaggat gatccagattccagtaccagtacattaggaaacatgctagaattacctggaacttcatca tcatctacttcacaggaattgccattttgtcaacctaagaaaaagtctacgccactgaag tatgaagttggagatctcatctgggcaaaattcaagagacgcccatggtggccctgcagg atttgttctgatccgttgattaacacacattcaaaaatgaaagtttccaaccggaggccc tatcggcagtactacgtggaggcttttggagatccttctgagagagcctgggtggctgga aaagcaatcgtcatgtttgaaggcagacatcaattcgaagagctacctgtccttaggaga agagggaaacagaaagaaaaaggatataggcataaggttcctcagaaaattttgagtaaa tgggaagccagtgttggacttgcagaacagtatgatgttcccaaggggtcaaagaaccga aaatgtattcctggttcaatcaagttggacagtgaagaagatatgccatttgaagactgc acaaatgatcctgagtcagaacatgacctgttgcttaatggctgtttgaaatcactggct tttgattctgaacattctgcagatgagaaggaaaagccttgcgctaaatctcgagccaga aagagctctgataatccaaaaaggactagtgtgaaaaagggccacatacaatttgaagca cataaagatgaacggaggggaaagattccagagaaccttggcctaaactttatctctggg gatatatctgatacgcaggcctctaatgaactttccaggatagcaaatagcctcacaggg tccaacactgccccaggaagttttctgttttcttcctgtggaaaaaacactgcaaagaaa gaatttgagacttcaaatggtgactctttattgggcttgcctgagggtgctttgatctca aagtgttctcgagagaagaataaaccccaacgaagcctggtgtgtggttcaaaagtgaag ctctgctatattggagcaggtgatgaggaaaagcgaagtgattccattagtatctgtacc acttctgatgatggaagcagtgacctggatcccatagaacacagctcagagtctgataac agtgtccttgaaattccagatgctttcgatagaacagagaacatgttatctatgcagaaa aatgaaaagataaagtattctaggtttgctgccacaaacactagggtaaaagcaaaacag aagcctctcattagtaactcacatacagaccacttaatgggttgtactaagagtgcagag cctggaaccgagacgtctcaggttaatctctctgatctgaaggcatctactcttgttcac aaaccccagtcagattttacaaatgatgctctctctccaaaattcaacctgtcatcaagc atatccagtgagaactcgttaataaagggtggggcagcaaatcaagctctattacattcg aaaagcaaacagcccaagttccgaagtataaagtgcaaacacaaagaaaatccagttatg gcagaacccccagttataaatgaggagtgcagtttgaaatgctgctcttctgataccaaa ggctctcctttggccagcatttctaaaagtgggaaagtggatggtctaaaactactgaac aatatgcatgagaaaaccagggattcaagtgacatagaaacagcagtggtgaaacatgtt ttatccgagttgaaggaactctcttacagatccttaggtgaggatgtcagtgactctgga acatcaaagccatcaaaaccattacttttctcttctgcttctagtcagaatcacatacct attgaaccagactacaaattcagtacattgctaatgatgttgaaagatatgcatgatagt aagacgaaggagcagcggttgatgactgctcaaaacctggtctcttaccggagtcctggt cgtggggactgttctactaatagtcctgtaggagtctctaaggttttggtttcaggaggc tccacacacaattcagagaaaaagggagatggcactcagaactccgccaatcctagccct agtgggggtgactctgcattatctggcgagttgtctgcttccctacctggcttactgtcc gacaagagagacctccctgcttctggtaaaagtcgttcagactgtgttactaggcgcaac tgtggacgatcaaagccttcatccaaattgcgagatgctttttcagcccaaatggtaaag aacacagtgaaccgtaaagccttaaagaccgagcgcaaaagaaaactgaatcagcttcca agtgtgactcttgatgctgtactgcagggagaccgagaacgtggaggttcattgagaggt ggggcagaagatcctagtaaagaggatccccttcagataatgggccacttaacaagtgaa gatggtgaccatttttctgatgtgcatttcgatagcaaggttaagcaatctgatcctggt aaaatttctgaaaaaggactctcttttgaaaacggaaaaggcccagagctggactctgta atgaacagtgagaatgatgaactcaatggtgtaaatcaagtggtgcctaaaaagcggtgg cagcgtttaaaccaaaggcgcactaaacctcgtaagcgcatgaacagatttaaagagaaa gaaaactctgagtgtgcctttagggtcttacttcctagtgaccctgtgcaggaggggcgg gatgagtttccagagcatagaactccttcagcaagcatacttgaggaaccactgacagag caaaatcatgctgactgcttagattcagctgggccacggttaaatgtttgtgataaatcc agtgccagcattggtgacatggaaaaggagccaggaattcccagtttgacaccacaggct gagctccctgaaccagctgtgcggtcagagaagaaacgccttaggaagccaagcaagtgg cttttggaatatacagaagaatatgatcagatatttgctcctaagaaaaaacaaaagaag gtacaggagcaggtgcacaaggtaagttcccgctgtgaagaggaaagccttctagcccga ggtcgatctagtgctcagaacaagcaggtggacgagaattctttgatttcaaccaaagaa gagcctccagttcttgaaagggaggctccgtttttggagggccccttggctcagtcagaa cttggaggtggacatgctgagttgccgcagctgaccttgtctgtgcctgtggctccggaa gtctctccacggcctgcccttgagtctgaggaattgctagttaaaacgccaggaaattat gaaagtaaacgtcaaagaaaaccaactaagaaacttcttgaatccaatgatttagaccct ggatttatgcccaagaagggggaccttggcctttctaaaaagtgctatgaagctggtcac ctggagaatggcataactgaatcttgtgccacatcttattcaaaagattttggtggaggc actaccaagatatttgacaagccaaggaagcgaaaacgacagaggcatgctgcagccaag atgcagtgtaaaaaagtgaaaaatgatgactcgtcaaaagagattccaggctcagaggga gaactaatgcctcacaggacggccacaagccccaaggagactgttgaggaaggtgtagaa cacgatcccgggatgcctgcctctaaaaaaatgcagggtgaacgcggtggaggagctgca ctcaaggagaatgtctgtcagaattgtgaaaaattgggtgagctgctgttatgtgaggct cagtgctgtggggctttccacctggagtgccttggattgactgagatgccaagaggaaaa tttatctgcaatgaatgtcgcacaggaatccatacctgttttgtatgtaagcagagtggg gaagatgttaaaaggtgccttctacccttgtgtggaaagttttaccatgaagagtgtgtc cagaagtacccacccactgttatgcagaacaagggcttccggtgctccctccacatctgt ataacctgtcatgctgctaatccagccaatgtttctgcatctaaaggtcggttgatgcgc tgtgtccgctgtcctgtggcataccacgccaatgacttttgcctggctgctgggtcaaag atccttgcatctaatagtatcatctgccctaatcactttacccctaggcggggctgccga aatcatgagcatgttaatgttagctggtgctttgtgtgctcagaaggaggcagccttctg tgctgtgattcttgccctgctgcttttcatcgtgaatgcctgaacattgatatccctgaa ggaaactggtattgcaatgactgtaaagcaggcaaaaagccacactacagggagattgtc tgggtaaaagttggacgatacaggtggtggccagctgagatctgccatcctcgagctgtt ccttccaacattgataagatgagacatgatgtgggagagttcccagtcctcttttttgga tctaatgactatttgtggactcaccaggcccgagtcttcccttacatggagggtgacgtg agcagcaaggataagatgggcaaaggagtggatgggacatataaaaaagctcttcaggaa gctgcagcaaggtttgaggaattaaaggcccaaaaagagctaagacagctgcaggaagac cgaaagaatgacaagaagccaccaccttataaacatataaaggtaaaccgtcctattggc agggtacagatcttcactgcagacttatctgaaataccccgttgcaactgtaaagctact gatgagaacccctgtgggatagactctgaatgcatcaaccgcatgctgctctatgagtgc caccccacagtgtgtcctgccggagggcgctgtcaaaaccagtgcttttccaagcgccaa tatccagaggttgaaattttccgcacattacagcggggttggggtctacggacaaaaaca gatattaaaaagggtgaatttgtgaatgagtatgtgggtgagcttatagatgaagaagaa tgcagagctcgaattcgctatgctcaagaacatgatatcactaatttctatatgctcacc ctagacaaagaccgaatcattgatgctggtcccaaaggaaactatgctcggttcatgaat cattgctgccagcccaactgtgaaacacagaagtggtctgtgaatggagatacccgtgta ggcctttttgcactaagtgacattaaagcaggcactgaacttaccttcaactacaaccta gaatgtcttgggaatggaaagactgtttgcaaatgtggagccccgaactgcagtggcttc ttgggtgtaaggccaaagaatcaacccattgccacggaagaaaagtcaaagaaattcaag aagaagcaacagggaaagcgcaggacccagggtgaaatcacaaaggagcgagaagatgag tgttttagttgtggggatgctggccagctcgtctcctgcaagaaaccaggctgcccaaaa gtttaccacgcagactgtctcaatctgaccaagcgaccagcagggaaatgggaatgtccg tggcatcagtgtgacatctgcgggaaggaagcagcctccttctgtgagatgtgccccagc tccttttgtaagcagcatcgagaagggatgcttttcatttccaaactggatgggcgtctg tcttgtactgagcatgacccctgtgggcccaatcctctggaacctggggagatccgtgag tatgtgcctcccccagtaccgctgcctccagggccaagcactcacctggcagagcaatca acaggaatggctgctcaggcacccaaaatgtcagataaacctcctgctgacaccaaccag atgctgtcgctctccaaaaaagctctggcagggacttgtcagaggccattgctacctgaa agacctcttgagagaactgactccaggccccagcctttagataaggtcagagacctcgct gggtcagggaccaaatcccaatccttggtttccagccagaggccactggacaggccacca gcagtggcaggaccaagaccccagctaagcgacaaaccctctccagtgaccagcccaagc tcctcaccctcagtcaggtcccaaccactggaaagacctctggggacggctgacccaagg ctggataaatccataggtgctgccagcccaaggccccagtcactggagaaaacctcagtt cccactggcctgagacttccgccgccagacagactgctcattactagcagtcccaaaccc cagacttcagacaggcctactgacaaaccccatgcctctttgtcccagagactcccacct cctgagaaagtactatcagctgtggtccagacccttgtagctaaagaaaaagcactgagg cctgtggaccagaatactcagtcaaaaaatagagctgctttggtgatggatctcatagac ctaactcctcgccagaaggagcgggcagcttcacctcatcaggtcacaccacaggctgat gagaagatgccagtgttggagtcaagttcatggcctgccagcaaaggtctggggcatatg ccgagagctgttgagaaaggctgtgtgtcagatcctcttcagacatctgggaaagcagca gccccttcagaggacccctggcaagctgttaaatcactcacccaggccagacttctttct cagcctcctgccaaggcctttttatatgagccaacaactcaggcctcaggaagagcttct gcaggggctgagcagaccccagggcctcttagccaatccccgggcctggtgaagcaggcg aagcagatggtcggaggccagcaactacctgcacttgccgccaagagtgggcaatctttt aggtctctcgggaaggccccagcctccctccccactgaagaaaagaagttggtaaccaca gagcaaagtccctgggccctgggaaaagcctcatcacgggcagggctctggcccatagtg gctggacagacactggcacagtcttgctggtctgctgggagcacacagacattggcacag acttgctggtctcttggaagagggcaagaccccaaaccagagcaaaatacacttccagct cttaaccaggctccttccagtcacaagtgtgcagaatcagaacagaagtag |
Protein Sequence | >64324 : length: 2696 MDQTCELPRRNCLLPFSNPVNLDAPEDKDSPFGNGQSNFSEPLNGCTMQLSTVSGTSQNA YGQDSPSCYIPLRRLQDLASMINVEYLNGSADGSESFQDPEKSDSRAQTPIVCTSLSPGG PTALAMKQEPSCNNSPELQVKVTKTIKNGFLHFENFTCVDDADVDSEMDPEQPVTEDESI EEIFEETQTNATCNYETKSENGVKVAMGSEQDSTPESRHGAVKSPFLPLAPQTETQKNKQ RNEVDGSNEKAALLPAPFSLGDTNITIEEQLNSINLSFQDDPDSSTSTLGNMLELPGTSS SSTSQELPFCQPKKKSTPLKYEVGDLIWAKFKRRPWWPCRICSDPLINTHSKMKVSNRRP YRQYYVEAFGDPSERAWVAGKAIVMFEGRHQFEELPVLRRRGKQKEKGYRHKVPQKILSK WEASVGLAEQYDVPKGSKNRKCIPGSIKLDSEEDMPFEDCTNDPESEHDLLLNGCLKSLA FDSEHSADEKEKPCAKSRARKSSDNPKRTSVKKGHIQFEAHKDERRGKIPENLGLNFISG DISDTQASNELSRIANSLTGSNTAPGSFLFSSCGKNTAKKEFETSNGDSLLGLPEGALIS KCSREKNKPQRSLVCGSKVKLCYIGAGDEEKRSDSISICTTSDDGSSDLDPIEHSSESDN SVLEIPDAFDRTENMLSMQKNEKIKYSRFAATNTRVKAKQKPLISNSHTDHLMGCTKSAE PGTETSQVNLSDLKASTLVHKPQSDFTNDALSPKFNLSSSISSENSLIKGGAANQALLHS KSKQPKFRSIKCKHKENPVMAEPPVINEECSLKCCSSDTKGSPLASISKSGKVDGLKLLN NMHEKTRDSSDIETAVVKHVLSELKELSYRSLGEDVSDSGTSKPSKPLLFSSASSQNHIP IEPDYKFSTLLMMLKDMHDSKTKEQRLMTAQNLVSYRSPGRGDCSTNSPVGVSKVLVSGG STHNSEKKGDGTQNSANPSPSGGDSALSGELSASLPGLLSDKRDLPASGKSRSDCVTRRN CGRSKPSSKLRDAFSAQMVKNTVNRKALKTERKRKLNQLPSVTLDAVLQGDRERGGSLRG GAEDPSKEDPLQIMGHLTSEDGDHFSDVHFDSKVKQSDPGKISEKGLSFENGKGPELDSV MNSENDELNGVNQVVPKKRWQRLNQRRTKPRKRMNRFKEKENSECAFRVLLPSDPVQEGR DEFPEHRTPSASILEEPLTEQNHADCLDSAGPRLNVCDKSSASIGDMEKEPGIPSLTPQA ELPEPAVRSEKKRLRKPSKWLLEYTEEYDQIFAPKKKQKKVQEQVHKVSSRCEEESLLAR GRSSAQNKQVDENSLISTKEEPPVLEREAPFLEGPLAQSELGGGHAELPQLTLSVPVAPE VSPRPALESEELLVKTPGNYESKRQRKPTKKLLESNDLDPGFMPKKGDLGLSKKCYEAGH LENGITESCATSYSKDFGGGTTKIFDKPRKRKRQRHAAAKMQCKKVKNDDSSKEIPGSEG ELMPHRTATSPKETVEEGVEHDPGMPASKKMQGERGGGAALKENVCQNCEKLGELLLCEA QCCGAFHLECLGLTEMPRGKFICNECRTGIHTCFVCKQSGEDVKRCLLPLCGKFYHEECV QKYPPTVMQNKGFRCSLHICITCHAANPANVSASKGRLMRCVRCPVAYHANDFCLAAGSK ILASNSIICPNHFTPRRGCRNHEHVNVSWCFVCSEGGSLLCCDSCPAAFHRECLNIDIPE GNWYCNDCKAGKKPHYREIVWVKVGRYRWWPAEICHPRAVPSNIDKMRHDVGEFPVLFFG SNDYLWTHQARVFPYMEGDVSSKDKMGKGVDGTYKKALQEAAARFEELKAQKELRQLQED RKNDKKPPPYKHIKVNRPIGRVQIFTADLSEIPRCNCKATDENPCGIDSECINRMLLYEC HPTVCPAGGRCQNQCFSKRQYPEVEIFRTLQRGWGLRTKTDIKKGEFVNEYVGELIDEEE CRARIRYAQEHDITNFYMLTLDKDRIIDAGPKGNYARFMNHCCQPNCETQKWSVNGDTRV GLFALSDIKAGTELTFNYNLECLGNGKTVCKCGAPNCSGFLGVRPKNQPIATEEKSKKFK KKQQGKRRTQGEITKEREDECFSCGDAGQLVSCKKPGCPKVYHADCLNLTKRPAGKWECP WHQCDICGKEAASFCEMCPSSFCKQHREGMLFISKLDGRLSCTEHDPCGPNPLEPGEIRE YVPPPVPLPPGPSTHLAEQSTGMAAQAPKMSDKPPADTNQMLSLSKKALAGTCQRPLLPE RPLERTDSRPQPLDKVRDLAGSGTKSQSLVSSQRPLDRPPAVAGPRPQLSDKPSPVTSPS SSPSVRSQPLERPLGTADPRLDKSIGAASPRPQSLEKTSVPTGLRLPPPDRLLITSSPKP QTSDRPTDKPHASLSQRLPPPEKVLSAVVQTLVAKEKALRPVDQNTQSKNRAALVMDLID LTPRQKERAASPHQVTPQADEKMPVLESSSWPASKGLGHMPRAVEKGCVSDPLQTSGKAA APSEDPWQAVKSLTQARLLSQPPAKAFLYEPTTQASGRASAGAEQTPGPLSQSPGLVKQA KQMVGGQQLPALAAKSGQSFRSLGKAPASLPTEEKKLVTTEQSPWALGKASSRAGLWPIV AGQTLAQSCWSAGSTQTLAQTCWSLGRGQDPKPEQNTLPALNQAPSSHKCAESEQK |