KEGG   Homo sapiens (human): 285203
Entry
285203            CDS       T01001                                 
Symbol
EOGT, AER61, AOS4, C3orf64, EOGT1
Name
(RefSeq) EGF domain specific O-linked N-acetylglucosamine transferase
  KO
K18134  EGF domain-specific O-GlcNAc transferase [EC:2.4.1.255]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00514  Other types of O-glycan biosynthesis
Disease
H01413  Adams-Oliver syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00514 Other types of O-glycan biosynthesis
    285203 (EOGT)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    285203 (EOGT)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.255  protein O-GlcNAc transferase
     285203 (EOGT)
Glycosyltransferases [BR:hsa01003]
 O-Glycan biosynthesis
  O-linked GlcNAc type
   285203 (EOGT)
SSDB
Motif
Pfam: Glyco_transf_61 Ephrin_lbd
Other DBs
NCBI-GeneID: 285203
NCBI-ProteinID: NP_001265618
OMIM: 614789
HGNC: 28526
Ensembl: ENSG00000163378
Pharos: Q5NDL2(Tdark)
UniProt: Q5NDL2
LinkDB
Position
3:complement(68975225..69013684)
AA seq 527 aa
MLMLFVFGVLLHEVSLSGQNEAPPNTHSIPGEPLYNYASIRLPEEHIPFFLHNNRHIATV
CRKDSLCPYKKHLEKLKYCWGYEKSCKPEFRFGYPVCSYVDMGWTDTLESAEDIFWKQAD
FGYARERLEEMHVLCQPKETSDSSLVCSRYLQYCRATNLYLDLRNIKRNHDRFKEDFFQS
GEIGGHCKLDIRTLTSEGQRKSPLQSWFAELQSYTQLNFRPIEDAKCDIVIEKPTYFMKL
DAGVNMYHHFCDFINLYITQHVNNSFSTDVYIVMWDTSSYGYGDLFSDTWNAFTDYDVIH
LKTYDSKRVCFKEAVFSLLPRMRYGLFYNTPLISGCQNTGLFRAFAQHVLHRLNITQEGP
KDGKIRVTILARSTEYRKILNQNELVNALKTVSTFEVQIVDYKYRELGFLDQLRITHNTD
IFIGMHGAGLTHLLFLPDWAAVFELYNCEDERCYLDLARLRGVHYITWRRQNKVFPQDKG
HHPTLGEHPKFTNYSFDVEEFMYLVLQAADHVLQHPKWPFKKKHDEL
NT seq 1584 nt   +upstreamnt  +downstreamnt
atgttaatgttgtttgtctttggagtcttacttcatgaagtctcactgagtggtcagaat
gaagctcctcctaatactcacagcattccaggcgaacctctgtataactatgccagcatc
cgcttgccagaggagcacattcccttctttttgcacaacaataggcatattgccactgtc
tgtaggaaagactctctttgtccatataagaaacacctagagaagctaaagtactgctgg
ggttatgagaaatcctgcaaaccagagttcaggtttggttacccagtttgcagctatgtc
gacatgggatggacggacactcttgagtcagctgaggacatattttggaaacaagctgac
tttggatatgccagagagaggctggaggagatgcatgtgctctgtcagcctaaggaaacg
agtgactcaagtctggtgtgttcccgttatcttcagtactgcagagcaaccaatctctat
cttgatttaagaaacatcaagagaaatcatgacagatttaaggaggactttttccagagt
ggtgaaattggagggcactgtaaacttgacatccgtacattgacgtctgaaggtcagcgc
aaaagccctctgcagtcatggtttgctgagctacaaagctatactcagctcaacttcaga
cctatagaagatgctaaatgtgacattgtcattgaaaaaccaacatatttcatgaaatta
gatgcaggtgttaacatgtatcaccacttctgtgatttcatcaatctttatattactcag
cacgttaataactcattcagtactgacgtgtacatcgtgatgtgggacaccagttcttac
ggatatggtgacctattctccgacacatggaatgcatttactgattatgacgttatacat
ttgaaaacttatgattccaaaagggtatgttttaaagaagctgttttttcattactcccc
cgcatgaggtatgggctgttctataatactcctctgatatctggctgtcaaaatactgga
ctattcagggcatttgcccagcatgtactacacagactaaacatcacacaagaaggacct
aaggatggaaaaattcgagtcaccattcttgcacggagcacagaataccggaaaatcctt
aaccaaaatgagcttgtaaatgcactgaaaacagtatctacatttgaagtccagattgtt
gattacaagtatagagaacttgggtttttagatcaactaaggatcacacacaacacggac
atatttattggaatgcatggagctggtctgacccatttacttttccttccagactgggct
gctgtatttgaactgtacaactgtgaagatgaacgctgttacttagacttggccaggctg
agaggcgttcactacatcacttggcgacggcagaacaaagtctttcctcaggataagggc
caccatccaaccctgggggagcacccgaagttcaccaactactctttcgatgtagaagaa
tttatgtatcttgtccttcaggctgcagaccacgtattgcaacacccaaagtggccattt
aagaagaaacatgatgagctataa

KEGG   Homo sapiens (human): 8473
Entry
8473              CDS       T01001                                 
Symbol
OGT, HINCUT-1, HRNT1, MRX106, O-GLCNAC, OGT1, XLID106
Name
(RefSeq) O-linked N-acetylglucosamine (GlcNAc) transferase
  KO
K09667  protein O-GlcNAc transferase [EC:2.4.1.255]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00514  Other types of O-glycan biosynthesis
hsa03083  Polycomb repressive complex
hsa04931  Insulin resistance
Network
nt06523  Epigenetic regulation by Polycomb complexes
  Element
N01585  Deubiquitination of H2AK119
Disease
H00480  X-linked intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00514 Other types of O-glycan biosynthesis
    8473 (OGT)
 09120 Genetic Information Processing
  09126 Chromosome
   03083 Polycomb repressive complex
    8473 (OGT)
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04931 Insulin resistance
    8473 (OGT)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    8473 (OGT)
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    8473 (OGT)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.255  protein O-GlcNAc transferase
     8473 (OGT)
Glycosyltransferases [BR:hsa01003]
 O-Glycan biosynthesis
  O-linked GlcNAc type
   8473 (OGT)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HAT complexes
    NSL complex
     8473 (OGT)
   Polycomb repressive complex (PRC) and associated proteins
    PR-DUB complex
     8473 (OGT)
SSDB
Motif
Pfam: Glyco_transf_41 TPR_1 TPR_11 TPR_2 TPR_17 TPR_8 TPR_12 TPR_19 TPR_16 TPR_14 TPR_10 TPR_7 TPR_6 TPR_9 TPR-S NatA_aux_su TPR_15 TPR_MalT FAT TPR_21 SHPRH_helical-1st Wzy_C_2 MIT EST1_DNA_bind ANAPC3 SNAP BTAD IcmF_helical TPR_EMC2 Suf Tcf25 TPR_20
Other DBs
NCBI-GeneID: 8473
NCBI-ProteinID: NP_858058
OMIM: 300255
HGNC: 8127
Ensembl: ENSG00000147162
Pharos: O15294(Tbio)
UniProt: O15294
Structure
LinkDB
Position
X:71533104..71575892
AA seq 1046 aa
MASSVGNVADSTEPTKRMLSFQGLAELAHREYQAGDFEAAERHCMQLWRQEPDNTGVLLL
LSSIHFQCRRLDRSAHFSTLAIKQNPLLAEAYSNLGNVYKERGQLQEAIEHYRHALRLKP
DFIDGYINLAAALVAAGDMEGAVQAYVSALQYNPDLYCVRSDLGNLLKALGRLEEAKACY
LKAIETQPNFAVAWSNLGCVFNAQGEIWLAIHHFEKAVTLDPNFLDAYINLGNVLKEARI
FDRAVAAYLRALSLSPNHAVVHGNLACVYYEQGLIDLAIDTYRRAIELQPHFPDAYCNLA
NALKEKGSVAEAEDCYNTALRLCPTHADSLNNLANIKREQGNIEEAVRLYRKALEVFPEF
AAAHSNLASVLQQQGKLQEALMHYKEAIRISPTFADAYSNMGNTLKEMQDVQGALQCYTR
AIQINPAFADAHSNLASIHKDSGNIPEAIASYRTALKLKPDFPDAYCNLAHCLQIVCDWT
DYDERMKKLVSIVADQLEKNRLPSVHPHHSMLYPLSHGFRKAIAERHGNLCLDKINVLHK
PPYEHPKDLKLSDGRLRVGYVSSDFGNHPTSHLMQSIPGMHNPDKFEVFCYALSPDDGTN
FRVKVMAEANHFIDLSQIPCNGKAADRIHQDGIHILVNMNGYTKGARNELFALRPAPIQA
MWLGYPGTSGALFMDYIITDQETSPAEVAEQYSEKLAYMPHTFFIGDHANMFPHLKKKAV
IDFKSNGHIYDNRIVLNGIDLKAFLDSLPDVKIVKMKCPDGGDNADSSNTALNMPVIPMN
TIAEAVIEMINRGQIQITINGFSISNGLATTQINNKAATGEEVPRTIIVTTRSQYGLPED
AIVYCNFNQLYKIDPSTLQMWANILKRVPNSVLWLLRFPAVGEPNIQQYAQNMGLPQNRI
IFSPVAPKEEHVRRGQLADVCLDTPLCNGHTTGMDVLWAGTPMVTMPGETLASRVAASQL
TCLGCLELIAKNRQEYEDIAVKLGTDLEYLKKVRGKVWKQRISSPLFNTKQYTMELERLY
LQMWEHYAAGNKPDHMIKPVEVTESA
NT seq 3141 nt   +upstreamnt  +downstreamnt
atggcgtcttccgtgggcaacgtggccgacagcacagaaccaacgaaacgtatgctttcc
ttccaagggttagctgagttggcacatcgagaatatcaggcaggagattttgaggcagct
gagagacactgcatgcagctctggagacaagagccagacaatactggtgtgcttttatta
ctttcatctatacacttccagtgtcgaaggctggacagatctgctcactttagcactctg
gcaattaaacagaacccccttctggcagaagcttattcgaatttggggaatgtgtacaag
gaaagagggcagttgcaggaggcaattgagcattatcgacatgcattgcgtctcaaacct
gatttcatcgatggttatattaacctggcagccgccttggtagcagcgggtgacatggaa
ggggcagtacaagcttacgtctctgctcttcagtacaatcctgatttgtactgtgttcgc
agtgacctggggaacctgctcaaagccctgggtcgcttggaagaagccaaggcatgttat
ttgaaagcaattgagacgcaaccgaactttgcagtagcttggagtaatcttggctgtgtt
ttcaatgcacaaggggaaatttggcttgcaattcatcactttgaaaaggctgtcaccctt
gacccaaactttctggatgcttatatcaatttaggaaatgtcttgaaagaggcacgcatt
tttgacagagctgtggcagcttatcttcgtgccctaagtttgagtccaaatcacgcagtg
gtgcacggcaacctggcttgtgtatactatgagcaaggcctgatagatctggcaatagac
acctacaggcgggctatcgaactacaaccacatttccctgatgcttactgcaacctagcc
aatgctctcaaagagaagggcagtgttgctgaagcagaagattgttataatacagctctc
cgtctgtgtcccacccatgcagactctctgaataacctagccaatatcaaacgagaacag
ggaaacattgaagaggcagttcgcttgtatcgtaaagcattagaagtcttcccagagttt
gctgctgcccattcaaatttagcaagtgtactgcagcagcagggaaaactgcaggaagct
ctgatgcattataaggaggctattcgaatcagtcctacctttgctgatgcctactctaat
atgggaaacactctaaaggagatgcaggatgttcagggagccttgcagtgttatacgcgt
gccatccaaattaatcctgcatttgcagatgcacatagcaatctggcttccattcataag
gattcagggaatattccagaagccatagcttcttaccgcacggctctgaaacttaagcct
gattttcctgatgcttattgtaacttggctcattgcctgcagattgtctgtgattggaca
gactatgatgagcgaatgaagaagttggtcagtattgtggctgaccagttagagaagaat
aggttgccttctgtgcatcctcatcatagtatgctatatcctctttctcatggcttcagg
aaggctattgctgagaggcacggcaacctgtgcttagataagattaatgttcttcataaa
ccaccatatgaacatccaaaagacttgaagctcagtgatggtcggctgcgtgtaggatat
gtgagttccgactttgggaatcatcctacttctcaccttatgcagtctattccaggcatg
cacaatcctgataaatttgaggtgttctgttatgccctgagcccagacgatggcacaaac
ttccgagtgaaggtgatggcagaagccaatcatttcattgatctttctcagattccatgc
aatggaaaagcagctgatcgcatccatcaggatggaattcatatccttgtaaatatgaat
ggctatactaagggcgctcgaaatgagctttttgctctcaggccagctcctattcaggca
atgtggctgggataccctgggacgagtggtgcgcttttcatggattatattatcactgat
caggaaacttcgccagctgaagttgctgagcagtattccgagaaattggcttatatgccc
cacactttttttattggtgatcatgctaatatgttccctcacctgaagaaaaaagcagtc
atcgattttaagtccaatgggcacatttatgacaatcggatagttctgaatggcatcgac
ctcaaagcatttcttgatagtctaccagatgtgaaaattgtcaagatgaagtgtcctgat
ggaggagacaatgcagatagcagtaacacagctcttaatatgcctgttattcctatgaat
actattgcagaagcagttattgaaatgattaaccgaggacagattcaaataacaattaat
ggattcagtattagcaatggactggcaactactcagatcaacaataaggctgcaactgga
gaggaggttccccgtaccattattgtaaccacccgttctcagtacgggttaccagaagat
gccatcgtatactgtaactttaatcagttgtataaaattgacccttctactttgcagatg
tgggcaaacattctgaagcgtgttcccaatagtgtactctggctgttgcgttttccagca
gtaggagaacctaatattcaacagtatgcacaaaacatgggcctgccccagaaccgtatc
attttttcacctgttgctcctaaagaggaacacgtcaggagaggccagctggctgatgtc
tgcttggacactccactctgtaatgggcacaccacagggatggatgtcctctgggcaggg
acccccatggtgactatgccaggagagactcttgcttctcgagttgcagcatcccagctc
acttgcttaggttgtcttgagcttattgctaaaaacagacaagaatatgaagacatagct
gtgaagctgggaactgatctagaatacctgaagaaagttcgtggcaaagtctggaagcaa
agaatatctagccctctgttcaacaccaaacaatacacaatggaactagagcggctctat
ctacagatgtgggagcattatgcagctggcaacaaacctgaccacatgattaagcctgtt
gaagtcactgagtcagcataa

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