KEGG   Homo sapiens (human): 1742
Entry
1742              CDS       T01001                                 
Symbol
DLG4, MRD62, PSD95, SAP-90, SAP90
Name
(RefSeq) discs large MAGUK scaffold protein 4
  KO
K11828  discs large protein 4
Organism
hsa  Homo sapiens (human)
Pathway
hsa04390  Hippo signaling pathway
hsa04724  Glutamatergic synapse
hsa05016  Huntington disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05030  Cocaine addiction
Network
nt06461  Huntington disease
nt06466  Pathways of neurodegeneration
  Element
N00987  Mutation-caused aberrant Htt to transport of calcium
Disease
H00773  Autosomal dominant intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04390 Hippo signaling pathway
    1742 (DLG4)
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    1742 (DLG4)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05016 Huntington disease
    1742 (DLG4)
   05022 Pathways of neurodegeneration - multiple diseases
    1742 (DLG4)
  09165 Substance dependence
   05030 Cocaine addiction
    1742 (DLG4)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    1742 (DLG4)
Membrane trafficking [BR:hsa04131]
 SNARE
  SNARE associated proteins
   Others
    1742 (DLG4)
 Endocytosis
  Clathrin-mediated endocytosis
   LDLR adaptor proteins
    1742 (DLG4)
SSDB
Motif
Pfam: Guanylate_kin PDZ PDZ_assoc PDZ_6 PDZ_2 MAGUK_N_PEST SH3_1 DUF6288 SH3_9
Other DBs
NCBI-GeneID: 1742
NCBI-ProteinID: NP_001308004
OMIM: 602887
HGNC: 2903
Ensembl: ENSG00000132535
UniProt: P78352
Structure
Position
17:complement(7187187..7220050)
AA seq 724 aa
MDCLCIVTTKKYRYQDEDTPPLEHSPAHLPNQANSPPVIVNTDTLEAPGYELQVNGTEGE
MEYEEITLERGNSGLGFSIAGGTDNPHIGDDPSIFITKIIPGGAAAQDGRLRVNDSILFV
NEVDVREVTHSAAVEALKEAGSIVRLYVMRRKPPAEKVMEIKLIKGPKGLGFSIAGGVGN
QHIPGDNSIYVTKIIEGGAAHKDGRLQIGDKILAVNSVGLEDVMHEDAVAALKNTYDVVY
LKVAKPSNAYLSDSYAPPDITTSYSQHLDNEISHSSYLGTDYPTAMTPTSPRRYSPVAKD
LLGEEDIPREPRRIVIHRGSTGLGFNIVGGEDGEGIFISFILAGGPADLSGELRKGDQIL
SVNGVDLRNASHEQAAIALKNAGQTVTIIAQYKPEEYSRFEAKIHDLREQLMNSSLGSGT
ASLRSNPKRGFYIRALFDYDKTKDCGFLSQALSFRFGDVLHVIDASDEEWWQARRVHSDS
ETDDIGFIPSKRRVERREWSRLKAKDWGSSSGSQGREDSVLSYETVTQMEVHYARPIIIL
GPTKDRANDDLLSEFPDKFGSCVPHTTRPKREYEIDGRDYHFVSSREKMEKDIQAHKFIE
AGQYNSHLYGTSVQSVREVAEQGKHCILDVSANAVRRLQAAHLHPIAIFIRPRSLENVLE
INKRITEEQARKAFDRATKLEQEFTECFSAIVEGDSFEEIYHKVKRVIEDLSGPYIWVPA
RERL
NT seq 2175 nt   +upstreamnt  +downstreamnt
atggactgtctctgtatagtgacaaccaagaaataccgctaccaagatgaagacacgccc
cctctggagcacagcccggcccacctccccaaccaggccaattctcccccagtgattgtc
aacacagataccctagaagccccaggatatgagttgcaggtgaacgggaccgagggggag
atggaatacgaggaaatcacattggaaaggggtaactcaggtctgggcttcagcatcgca
ggtggcactgacaacccacacatcggtgacgacccatccattttcatcaccaagatcatt
cctggtggggctgcggcccaggatggccgcctcagggtcaacgacagcatcctgtttgta
aatgaagtggacgtgcgcgaggtgacccactcagcggcggtggaagccctcaaagaggca
ggctccatcgttcgcctctatgtcatgcgccggaagcccccggctgagaaggtcatggag
atcaagctcatcaaggggcctaaaggtcttggcttcagcatcgcagggggcgtagggaac
cagcacatcccaggagataatagcatctatgtaacaaagatcatcgaagggggtgctgcc
cacaaggatgggaggttgcagattggagacaagatcctggcggtcaacagtgtggggcta
gaggacgtcatgcatgaagatgctgtggcagccctgaagaacacgtatgatgttgtctac
ctaaaggtggccaagcccagcaatgcctacctgagtgacagctatgctcccccagacatc
acaacctcttattcccagcacctggacaatgagatcagtcacagcagctacctgggcacc
gactaccccacagccatgacccccacttcccctcggcgctactctccagtggccaaggac
ctgctcggggaggaagacattccccgagaaccgaggcgaattgtgatccaccggggctcc
acgggcctgggcttcaacatcgtgggtggcgaggacggtgaaggcatcttcatctccttt
atcctggccgggggccctgcagacctcagtggggagctgcggaagggggaccagatcctg
tcggtcaacggtgtggacctccgaaatgccagccatgagcaggctgccattgccctgaag
aatgcgggtcagacggtcacgatcatcgctcagtataaaccagaagagtacagccgattc
gaggccaagatccacgaccttcgggaacagctcatgaacagcagcctgggctcagggact
gcgtccctgcggagcaaccccaaaaggggtttctacatcagggccctgtttgattacgac
aagaccaaggactgcggcttcctgagccaggccctgagcttccgctttggggatgtgctg
catgtcatcgatgctagtgatgaggagtggtggcaggcacggcgggtccactctgacagt
gagaccgacgacattgggttcatccccagcaaacggcgggttgagcgacgagagtggtca
aggttaaaggccaaggactggggctccagctctggatcgcagggtcgagaagactcggtt
ctgagctacgagacagtgacgcagatggaagtgcactatgctcgccccatcatcatcctt
gggcccaccaaggaccgcgccaacgatgatcttctctccgagttccccgacaagtttgga
tcctgtgttccccatacgacacggcccaagcgggagtatgagatagatggccgggattac
cactttgtgtcgtcccgggagaaaatggagaaggacattcaggcgcacaagttcattgag
gccggccagtacaacagccacctctatgggaccagcgtccagtccgtgcgagaggtggca
gagcaggggaagcactgcatcctcgatgtctcggccaatgccgtgcggcggctgcaggcg
gcccacctgcaccccatcgccatcttcatccgcccccgctccctggagaatgtgctagag
attaacaagcggatcacagaggagcaagcccgcaaagccttcgacagagccaccaagctg
gagcaggagttcacagagtgcttctcagccatcgtggagggtgacagctttgaggagatc
taccacaaggtgaagcgtgtcatcgaggacctctcaggcccctacatctgggttccagcc
cgagagagactctga

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