KEGG   Homo sapiens (human): 126326
Entry
126326            CDS       T01001                                 
Symbol
GIPC3, C19orf64, DFNB15, DFNB72, DFNB95
Name
(RefSeq) GIPC PDZ domain containing family member 3
  KO
K20056  PDZ domain-containing protein GIPC
Organism
hsa  Homo sapiens (human)
Disease
H00605  Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    126326 (GIPC3)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Clathrin-mediated endocytosis
   LDLR adaptor proteins
    126326 (GIPC3)
SSDB
Motif
Pfam: GIPC1_GH1 GIPC1_GH2 PDZ
Other DBs
NCBI-GeneID: 126326
NCBI-ProteinID: NP_573568
OMIM: 608792
HGNC: 18183
Ensembl: ENSG00000179855
UniProt: Q8TF64
LinkDB
Position
19:3585478..3593541
AA seq 312 aa
MEGAAAREARGTETPRASAPPPAPSEPPAAPRARPRLVFRTQLAHGSPTGKIEGFTNVRE
LYAKIAEAFGIAPTEILFCTLNSHKVDMQKLLGGQIGLEDFIFAHVRGETKEVEVTKTED
ALGLTITDNGAGYAFIKRIKEGSIINRIEAVCVGDSIEAINDHSIVGCRHYEVAKMLREL
PKSQPFTLRLVQPKRAFDMIGQRSRSSKCPVEAKVTSGRETLRLRSGGAATVEEAPSEFE
EEASRKVDDLLESYMGIRDPELASTMVETSKKTASAQEFARCLDSVLGEFAFPDEFVVEV
WAAIGEAREACG
NT seq 939 nt   +upstreamnt  +downstreamnt
atggagggagcagcggcccgggaggcccgggggaccgagaccccgcgcgcgtctgcgccc
ccgcccgcgccctcggagcccccggccgcgccccgcgcccgcccgcgcctcgtcttccgc
acgcagctggcgcacgggagccccacgggcaagatcgagggcttcaccaacgtccgcgag
ctgtacgccaagatcgccgaagccttcgggatcgcgcccaccgagattttattctgcacc
ctcaacagccacaaagtggacatgcagaagctcctggggggtcagataggcctggaggac
ttcatctttgcccacgtgcgaggcgagaccaaggaggtggaggtcactaagacagaggat
gctctggggctgaccatcacggacaacggggctggctacgccttcatcaagagaatcaag
gaaggcagtatcatcaaccggatcgaggcagtgtgcgtgggtgacagcatcgaagccatc
aacgaccactccattgtgggctgccgccactacgaggtggccaagatgctccgggagctg
cccaagtcccagcccttcaccctgcgcctggtgcagcccaagagggccttcgatatgatt
ggccagagaagtcggtccagcaaatgtccagtagaggcgaaagtgaccagcgggagggag
accctgcggcttcgttctgggggggctgccacagtggaggaagcgcccagtgagtttgag
gaggaggcatctcggaaggttgatgacctgctggaaagctacatgggcattcgggacccc
gagctggcgtccaccatggtggagacgtccaagaagacagcgagcgcccaggagtttgca
cgctgtttagactccgtcttgggcgagttcgccttccccgacgagtttgtggtggaagtg
tgggccgccatcggcgaggccagagaggcctgtggctag

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