KEGG T01001: 7468

Homo sapiens (human): 7468

Entry

7468 CDS T01001

Gene name

WHSC1, MMSET, NSD2, REIIBP, TRX5, WHS

Definition

Wolf-Hirschhorn syndrome candidate 1 (EC:2.1.1.43)

Orthology

K11424

histone-lysine N-methyltransferase NSD2 [EC:2.1.1.43]

Organism

hsa Homo sapiens (human)

Pathway

hsa00310	Lysine degradation
hsa05202	Transcriptional misregulation in cancer

Disease

H00010

Multiple myeloma

Class

Metabolism; Amino acid metabolism; Lysine degradation [PATH:hsa00310]
Human Diseases; Cancers; Transcriptional misregulation in cancers [PATH:hsa05202]

SSDB

Motif

Pfam:

PWWP SET PHD HMG_box HMG_box_2 zf-HC5HC2H

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

4p16.3

AA seq 1365 aa
MEFSIKQSPLSVQSVVKCIKMKQAPEILGSANGKTPSCEVNRECSVFLSKAQLSSSLQEG
VMQKFNGHDALPFIPADKLKDLTSRVFNGEPGAHDAKLRFESQEMKGIGTPPNTTPIKNG
SPEIKLKITKTYMNGKPLFESSICGDSAADVSQSEENGQKPENKARRNRKRSIKYDSLLE
QGLVEAALVSKISSPSDKKIPAKKESCPNTGRDKDHLLKYNVGDLVWSKVSGYPWWPCMV
SADPLLHSYTKLKGQKKSARQYHVQFFGDAPERAWIFEKSLVAFEGEGQFEKLCQESAKQ
APTKAEKIKLLKPISGKLRAQWEMGIVQAEEAASMSVEERKAKFTFLYVGDQLHLNPQVA
KEAGIAAESLGEMAESSGVSEEAAENPKSVREECIPMKRRRRAKLCSSAETLESHPDIGK
STPQKTAEADPRRGVGSPPGRKKTTVSMPRSRKGDAASQFLVFCQKHRDEVVAEHPDASG
EEIEELLRSQWSLLSEKQRARYNTKFALVAPVQAEEDSGNVNGKKRNHTKRIQDPTEDAE
AEDTPRKRLRTDKHSLRKRDTITDKTARTSSYKAMEAASSLKSQAATKNLSDACKPLKKR
NRASTAASSALGFSKSSSPSASLTENEVSDSPGDEPSESPYESADETQTEVSVSSKKSER
GVTAKKEYVCQLCEKPGSLLLCEGPCCGAFHLACLGLSRRPEGRFTCSECASGIHSCFVC
KESKTDVKRCVVTQCGKFYHEACVKKYPLTVFESRGFRCPLHSCVSCHASNPSNPRPSKG
KMMRCVRCPVAYHSGDACLAAGCSVIASNSIICTAHFTARKGKRHHAHVNVSWCFVCSKG
GSLLCCESCPAAFHPDCLNIEMPDGSWFCNDCRAGKKLHFQDIIWVKLGNYRWWPAEVCH
PKNVPPNIQKMKHEIGEFPVFFFGSKDYYWTHQARVFPYMEGDRGSRYQGVRGIGRVFKN
ALQEAEARFREIKLQREARETQESERKPPPYKHIKVNKPYGKVQIYTADISEIPKCNCKP
TDENPCGFDSECLNRMLMFECHPQVCPAGEFCQNQCFTKRQYPETKIIKTDGKGWGLVAK
RDIRKGEFVNEYVGELIDEEECMARIKHAHENDITHFYMLTIDKDRIIDAGPKGNYSRFM
NHSCQPNCETLKWTVNGDTRVGLFAVCDIPAGTELTFNYNLDCLGNEKTVCRCGASNCSG
FLGDRPKTSTTLSSEEKGKKTKKKTRRRRAKGEGKRQSEDECFRCGDGGQLVLCDRKFCT
KAYHLSCLGLGKRPFGKWECPWHHCDVCGKPSTSFCHLCPNSFCKEHQDGTAFSCTPDGR
SYCCEHDLGAASVRSTKTEKPPPEPGKPKGKRRRRRGWRRVTEGK

NT seq 4098 nt +upstreamnt +downstreamnt
atggaatttagcatcaagcagagtcccctttctgttcagagtgttgtaaagtgcataaag
atgaagcaggcaccagaaatcctcggcagtgccaacgggaagactccgagctgcgaggtg
aaccgcgagtgttctgtgttcctcagcaaagcccagctctccagtagcctgcaggagggg
gtcatgcagaagtttaacggccacgacgccctgccctttattccagccgacaagctgaaa
gatcttacttcccgggtgtttaatggagaacccggcgcacacgatgccaaactgcgtttt
gagtcccaggaaatgaaagggattgggacaccccctaacactacccctatcaaaaatggc
tctccagaaattaagctgaaaatcaccaaaacatacatgaatgggaagcctctctttgaa
tcttccatttgtggtgacagtgctgctgatgtgtctcagtcagaagaaaatggacaaaaa
ccagaaaacaaggcgagaaggaacaggaagaggagcataaaatatgactccttgctggag
cagggccttgtcgaagcagctcttgtgtctaagatctcaagtccttcagataaaaagatt
ccagctaagaaagagtcttgtccaaacactggaagagacaaagaccacctgttgaaatac
aacgttggtgatttggtgtggtccaaagtgtcgggttacccttggtggccttgcatggtt
tctgcagatccactccttcacagctataccaaacttaaaggtcagaaaaagagtgcacgc
cagtatcacgtacagttctttggtgacgccccagaaagagcttggatatttgagaagagc
ctcgtagcttttgaaggagaaggacagtttgaaaaattatgccaggaaagtgccaagcag
gcacccacgaaagctgagaaaattaagctattgaaaccaatttcagggaaattgagggcc
cagtgggaaatgggcattgttcaagcagaagaagctgcaagcatgtcagtggaggagcgg
aaagccaagttcacctttctctatgtgggggaccagcttcatctcaaccctcaagtagcc
aaggaggctggcattgctgcagagtctttgggagaaatggcagaatcctcaggagtcagt
gaagaagctgctgaaaaccccaagtctgtgagagaagagtgcattcccatgaagagaagg
cggagggccaaactgtgtagctctgcagagaccctggagagtcaccccgacatagggaag
agtactcctcaaaagacggcagaggctgaccccagaagaggagtagggtctcctcctggg
aggaagaagaccacagtctccatgccacgaagcaggaagggagatgcagcatcccagttt
ttggtcttctgtcaaaaacacagggatgaggtggtagctgagcacccagatgcttcaggt
gaggagattgaagagctgctcaggtcacagtggagtctgctgagtgagaagcagagagca
cgctacaacaccaagtttgccctggtggcccctgtccaggctgaagaagactctggtaat
gtaaatgggaaaaaaagaaaccacacaaagaggatacaggaccctacagaagatgctgaa
gctgaggacacacccaggaaaagactcaggacggacaagcacagtcttcggaagagagac
acaatcactgacaaaacggccagaacaagctcttacaaggccatggaggcagcctcctcg
ctcaagagccaggcagcaacgaaaaatctgtctgatgcatgtaaaccactgaagaagcga
aatcgggcttccacggcagcatcttcagctcttgggtttagcaaaagttcatctccttct
gcatccttaactgagaatgaggtctcggacagcccgggagacgagccctcggagtcccca
tacgaaagtgcagacgaaacacaaactgaagtatctgtctcatccaaaaagtctgagcga
ggagtgactgccaaaaaggagtatgtgtgccagctgtgtgagaagccgggcagcctcctg
ctctgtgaaggaccctgctgcggagctttccacctcgcctgccttgggctttcccggagg
ccagaagggaggttcacctgcagcgagtgtgcctcagggattcactcatgtttcgtgtgt
aaagagagcaagacagatgttaagcgctgtgtggtaactcagtgtggaaaattttaccat
gaggcttgtgtgaaaaaataccctctgactgtatttgagagccgaggtttccgctgcccc
ctccacagctgtgtgagctgccatgcttccaacccttcaaacccaaggccgtcaaaaggt
aaaatgatgcggtgtgtccgctgccccgttgcctatcacagcggggatgcttgtctggca
gcaggatgctcagtgatcgcctccaacagcatcatctgcactgcccacttcactgctcgg
aaggggaagcgacaccacgcccacgtcaacgtgagctggtgcttcgtgtgctccaaaggg
gggagccttctgtgctgtgagtcctgcccagcggccttccaccctgactgcctgaacatc
gagatgcctgacggcagctggttctgcaatgactgcagggctgggaagaagctgcacttc
caggatatcatttgggtgaaacttgggaactacagatggtggccggcagaagtttgccat
cccaaaaatgttcccccaaatattcagaaaatgaagcacgagattggagaattccctgtg
tttttctttgggtctaaagattattactggacgcatcaggcgcgagtgttcccgtacatg
gagggggaccggggcagccgctaccagggggtcagagggatcggaagagtcttcaaaaac
gcactgcaagaagctgaagctcgttttcgtgaaattaagcttcagagggaagcccgagaa
acacaggagagcgagcgcaagcccccaccatacaagcacatcaaggtgaataagccttac
gggaaagtccagatctacacagcggatatttcagaaatccctaagtgcaactgcaagccc
acagatgagaatccttgtggctttgattcggagtgtctgaacaggatgctgatgtttgag
tgccacccgcaggtgtgtcccgcgggcgagttctgccagaaccagtgcttcaccaagcgc
cagtacccagagaccaagatcatcaagacagatggcaaagggtggggcctggtcgccaag
agggacatcagaaagggagaatttgttaacgagtacgttggggagctgatcgacgaggag
gagtgcatggcgagaatcaagcacgcacacgagaacgacatcacccacttctacatgctc
actatagacaaggaccgtataatagacgctggccccaaaggaaactactctcgatttatg
aatcacagctgccagcccaactgtgagaccctcaagtggacagtgaatggggacactcgt
gtgggcctgtttgccgtctgtgacattcctgcagggacggagctgacttttaactacaac
ctcgattgtctgggcaatgaaaaaacggtctgccggtgtggagcctccaattgcagtgga
ttcctcggggatagaccaaagacctcgacgaccctttcatcagaggaaaagggcaaaaag
accaagaagaaaacgaggcggcgcagagcaaaaggggaagggaagaggcagtcagaggac
gagtgcttccgctgcggtgatggcgggcagctggtgctgtgtgaccgcaagttctgcacc
aaggcctaccacctgtcctgcctgggccttggcaagcggcccttcgggaagtgggaatgt
ccttggcatcattgtgacgtgtgtggcaaaccttcgacttcattttgccacctctgcccc
aattcgttctgtaaggagcaccaggacgggacagccttcagctgcaccccggacgggcgg
tcctactgctgtgagcatgacttaggggcggcatcggtcagaagcaccaagactgagaag
ccccccccagagccagggaagccgaaggggaagaggcggcggcggaggggctggcggaga
gtcacagagggcaaatag

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (6)   
   KEGG COMPOUND (6)   
Chemical reaction (4)   
   KEGG ENZYME (1)   
   KEGG REACTION (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (29)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (21)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (7)   
   UniProt (1)   
   RefSeq(pep) (6)   
DNA sequence (68)   
   RefSeq(nuc) (10)   
   GenBank (29)   
   EMBL (29)   
Protein domain (6)   
   Pfam (6)   
All databases (127)   

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