KEGG   Homo sapiens (human): 65992
Entry
65992             CDS       T01001                                 
Symbol
DDRGK1, C20orf116, SEMDSH, UFBP1, dJ1187M17.3
Name
(RefSeq) DDRGK domain containing 1
  KO
K23344  DDRGK domain-containing protein 1
Organism
hsa  Homo sapiens (human)
Disease
H02187  Spondyloepimetaphyseal dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    65992 (DDRGK1)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  Multi subunit Ring-finger type E3
   Multi subunit type E3 associated proteins
    65992 (DDRGK1)
SSDB
Motif
Pfam: DDRGK PCI
Other DBs
NCBI-GeneID: 65992
NCBI-ProteinID: NP_076424
OMIM: 616177
HGNC: 16110
Ensembl: ENSG00000198171
UniProt: Q96HY6
Structure
Position
20:complement(3190350..3204682)
AA seq 314 aa
MVAPVWYLVAAALLVGFILFLTRSRGRAASAGQEPLHNEELAGAGRVAQPGPLEPEEPRA
GGRPRRRRDLGSRLQAQRRAQRVAWAEADENEEEAVILAQEEEGVEKPAETHLSGKIGAK
KLRKLEEKQARKAQREAEEAEREERKRLESQREAEWKKEEERLRLEEEQKEEEERKAREE
QAQREHEEYLKLKEAFVVEEEGVGETMTEEQSQSFLTEFINYIKQSKVVLLEDLASQVGL
RTQDTINRIQDLLAEGTITGVIDDRGKFIYITPEELAAVANFIRQRGRVSIAELAQASNS
LIAWGRESPAQAPA
NT seq 945 nt   +upstreamnt  +downstreamnt
atggtggcgcctgtgtggtacttggtagcggcggctctgctagtcggctttatcctcttc
ctgactcgcagccggggccgggcggcatcagccggccaagagccactgcacaatgaggag
ctggcaggagcaggccgggtggcccagcctgggcccctggagcctgaggagccgagagct
ggaggcaggcctcggcgccggagggacctgggcagccgcctacaggcccagcgtcgagcc
cagcgggtggcctgggcagaagcagatgagaacgaggaggaagctgtcatcctagcccag
gaggaggaaggtgtcgagaagccagcggaaactcacctgtcggggaaaattggagctaag
aaactgcggaagctggaggagaaacaagcgcgaaaggcccagcgtgaggcagaggaggct
gaacgtgaggagcggaaacgactcgagtcccagcgcgaagctgagtggaagaaggaggag
gagcggcttcgcctggaggaggagcagaaggaggaggaggagaggaaggcccgcgaggag
caggcccagcgggagcatgaggagtacctgaaactgaaggaggcctttgtggtggaggag
gaaggcgtaggagagaccatgactgaggaacagtcccagagcttcctgacagagttcatc
aactacatcaagcagtccaaggttgtgctcttggaagacctggcttcccaggtgggccta
cgcactcaggacaccataaatcgcatccaggacctgctggctgaggggactataacaggt
gtgattgacgaccggggcaagttcatctacataaccccagaggaactggccgccgtggcc
aacttcatccgacagcggggccgggtgtccatcgccgagcttgcccaagccagcaactcc
ctcatcgcctggggccgggagtcccctgcccaagccccagcctga

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