KEGG   Homo sapiens (human): 118987
Entry
118987            CDS       T01001                                 
Symbol
PDZD8, IDDADF, PDZK8
Name
(RefSeq) PDZ domain containing 8
  KO
K24060  PDZ domain-containing protein 8
Organism
hsa  Homo sapiens (human)
Disease
H02371  Intellectual developmental disorder with autism and speech delay
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    118987 (PDZD8)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 PDZ domain-containing proteins
  Other PDZ domain-containing proteins
   118987 (PDZD8)
SSDB
Motif
Pfam: PDZ_6 C1_1 PDZ PDZ_2 GRASP55_65
Other DBs
NCBI-GeneID: 118987
NCBI-ProteinID: NP_776152
OMIM: 614235
HGNC: 26974
Ensembl: ENSG00000165650
UniProt: Q8NEN9
Structure
Position
10:complement(117277274..117375440)
AA seq 1154 aa
MGLLLMILASAVLGSFLTLLAQFFLLYRRQPEPPADEAARAGEGFRYIKPVPGLLLREYL
YGGGRDEEPSGAAPEGGATPTAAPETPAPPTRETCYFLNATILFLFRELRDTALTRRWVT
KKIKVEFEELLQTKTAGRLLEGLSLRDVFLGETVPFIKTIRLVRPVVPSATGEPDGPEGE
ALPAACPEELAFEAEVEYNGGFHLAIDVDLVFGKSAYLFVKLSRVVGRLRLVFTRVPFTH
WFFSFVEDPLIDFEVRSQFEGRPMPQLTSIIVNQLKKIIKRKHTLPNYKIRFKPFFPYQT
LQGFEEDEEHIHIQQWALTEGRLKVTLLECSRLLIFGSYDREANVHCTLELSSSVWEEKQ
RSSIKTVELIKGNLQSVGLTLRLVQSTDGYAGHVIIETVAPNSPAAIADLQRGDRLIAIG
GVKITSTLQVLKLIKQAGDRVLVYYERPVGQSNQGAVLQDNFGQLEENFLSSSCQSGYEE
EAAGLTVDTESRELDSEFEDLASDVRAQNEFKDEAQSLSHSPKRVPTTLSIKPLGAISPV
LNRKLAVGSHPLPPKIQSKDGNKPPPLKTSEITDPAQVSKPTQGSAFKPPVPPRPQAKVP
LPSADAPNQAEPDVLVEKPEKVVPPPLVDKSAEKQAKNVDAIDDAAAPKQFLAKQEVAKD
VTSETSCPTKDSSDDRQTWESSEILYRNKLGKWTRTRASCLFDIEACHRYLNIALWCRDP
FKLGGLICLGHVSLKLEDVALGCLATSNTEYLSKLRLEAPSPKAIVTRTALRNLSMQKGF
NDKFCYGDITIHFKYLKEGESDHHVVTNVEKEKEPHLVEEVSVLPKEEQFVGQMGLTENK
HSFQDTQFQNPTWCDYCKKKVWTKAASQCMFCAYVCHKKCQEKCLAETSVCGATDRRIDR
TLKNLRLEGQETLLGLPPRVDAEASKSVNKTTGLTRHIINTSSRLLNLRQVSKTRLSEPG
TDLVEPSPKHTPNTSDNEGSDTEVCGPNSPSKRGNSTGIKLVRKEGGLDDSVFIAVKEIG
RDLYRGLPTEERIQKLEFMLDKLQNEIDQELEHNNSLVREEKETTDTRKKSLLSAALAKS
GERLQALTLLMIHYRAGIEDIETLESLSLDQHSKKISKYTDDTEEDLDNEISQLIDSQPF
SSISDDLFGPSESV
NT seq 3465 nt   +upstreamnt  +downstreamnt
atggggctgctgctcatgatcctggcgtcggccgtgctgggttccttcctcacgctcctc
gcccagttcttcctgctgtaccgcagacagcccgagccgccggcggacgaggccgcccgc
gcgggcgagggcttccgctacatcaagccagtgccgggcctgctcctaagggagtacctt
tatggcggcggccgggatgaggagccctccggagcggcccctgagggcggcgcgaccccc
accgcggcccccgagacccccgccccgccgacgcgggagacttgctacttcctcaacgcc
accatcctattcctgttccgggagttgcgggacaccgcgctgacccgccgctgggtcacc
aagaagatcaaggtggagttcgaggagctgctgcagaccaagacggccgggcgcctgctg
gaggggctgagcctgcgggacgtgttcctgggcgagacggtgcccttcatcaagaccatc
cggctcgtgcggccagtcgtgccctcggccaccggggagcccgatggccctgaaggggag
gcgctgcccgccgcctgccccgaggagctggccttcgaggcggaggtggagtacaacggg
ggcttccacctggccatcgacgtggacctggtcttcggcaagtccgcctacttgtttgtc
aagctgtcccgcgtggtgggaaggctgcgcttggtctttacgcgcgtgcccttcacccac
tggttcttctccttcgtggaagacccgctgatcgacttcgaggtgcgctcccagtttgaa
gggcggcccatgccccagctcacctccatcatcgtcaaccagctcaagaagatcatcaag
cgcaagcacaccctaccgaattacaagatcaggtttaagccgttttttccataccagacc
ttgcaaggatttgaagaagatgaagagcatatccatatacaacaatgggcacttactgaa
ggccgtcttaaagttacgttgttagaatgtagcaggttactcatttttggatcctatgac
agagaggcaaatgttcattgcacacttgagttaagcagtagtgtttgggaagaaaaacag
aggagttctattaagacggttgaattaataaaaggaaatttacaaagtgttggacttaca
cttcgtcttgtccagtcaactgatgggtatgctgggcacgtcatcattgaaactgtggct
ccaaactcgcctgctgcaattgcagatcttcagcggggagatcgacttatcgccattgga
ggtgtgaaaatcacatcaacactgcaagtgttgaagcttatcaagcaggctggtgaccga
gtcctggtgtactatgaaaggcctgttggccagagtaatcaaggtgcagtgctgcaagat
aactttggccagttggaagaaaactttttgtcaagctcatgccaatcgggttatgaagag
gaagctgccgggttgacagtagatactgaaagtagagagctggattctgaatttgaagac
ttggcaagtgatgtcagagcacaaaatgagttcaaagatgaggcacaatcattaagtcat
agtcccaaacgtgttccaacaacactttctattaaaccccttggagctatatcaccagtt
ttaaaccgtaaattagctgtaggaagtcacccactaccaccgaaaattcagtccaaagat
ggaaataaacctccacccctaaaaacttctgagataacagacccagcacaagtgtcaaaa
ccaacccaaggatctgctttcaaaccacctgtgccaccacgaccacaagcgaaagttcct
ttgccttccgccgatgctccaaatcaggcagaaccagatgttctcgttgaaaagccagag
aaggtggtgccacctcctcttgtagataaatctgctgaaaagcaagcaaaaaatgtggat
gccatagacgatgcagctgcacctaagcaatttttagcaaagcaagaagtggccaaagat
gtcacttcagaaacttcctgccctactaaggacagttcggacgaccgtcaaacatgggaa
tcatcagaaattctttatcgtaataagctaggaaaatggacaagaaccagagcatcctgt
ttgtttgacatagaagcctgtcacaggtacttaaacattgcattgtggtgcagggatcct
ttcaagttgggaggtctcatctgtttggggcatgttagtttaaaacttgaagatgtggct
ttaggatgcctagctacatcaaacacggaatacctttccaaattgagactggaagccccc
tcacctaaggctatagtcactagaaccgcactacgcaatctgagtatgcaaaagggattc
aatgacaaattttgctatggtgacattactattcacttcaaatatttgaaagaaggagaa
tcagaccaccatgtagttactaacgtagaaaaagaaaaagaaccccatttggttgaagaa
gtttctgttctccctaaagaggagcaatttgttggacagatgggtttaacagaaaacaaa
cacagttttcaggatactcagttccagaacccaacatggtgtgactactgtaagaaaaaa
gtttggactaaagcagcttcccagtgtatgttttgtgcttatgtttgccataaaaaatgt
caagaaaagtgtctagctgagacttctgtttgtggagcaactgataggcgaatagacagg
acactgaaaaaccttaggctggaaggacaggaaaccctcttaggcctgcctcctcgtgtt
gatgctgaagctagcaagtcagtcaataaaacaacaggtttgacaaggcatattatcaat
actagttctcgtttattaaatttgcgtcaagtctctaaaactcgcctttctgaaccagga
accgatctcgtagaaccttcaccaaaacacacacccaacacgtcagacaacgaaggcagt
gacacggaggtctgtggtccaaacagtccttctaaacggggaaacagcacaggaataaag
ttagtgagaaaagagggtggtctggatgacagtgttttcattgcagttaaagaaattggt
cgtgatctgtacaggggcttgcctacagaggaaaggatccagaaactagagttcatgttg
gataagctacagaatgaaattgatcaggagttggaacacaataattcccttgttagagaa
gaaaaagagacaactgatacaaggaaaaaatcacttctttctgctgccttagctaaatca
ggtgaaaggctacaagctctaacacttcttatgattcactacagagcaggcattgaagat
atagaaactttagaaagtctgtctttagaccagcactccaaaaaaataagcaagtacaca
gatgatacagaagaagaccttgataatgaaataagccaactaatagactctcagccattc
agcagcatatcagatgacttatttggcccatccgagtctgtgtag

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