KEGG   Homo sapiens (human): 89970
Entry
89970             CDS       T01001                                 
Symbol
RSPRY1, SEMDFA
Name
(RefSeq) ring finger and SPRY domain containing 1
  KO
K23332  RING finger and SPRY 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]
    89970 (RSPRY1)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  Multi subunit Ring-finger type E3
   Cul5 complex
    Target recognizing subunit
     89970 (RSPRY1)
SSDB
Motif
Pfam: SPRY zf-C3HC4_3 Prok-RING_4
Other DBs
NCBI-GeneID: 89970
NCBI-ProteinID: NP_001292092
OMIM: 616585
HGNC: 29420
Ensembl: ENSG00000159579
Pharos: Q96DX4(Tdark)
UniProt: Q96DX4 A0A024R6U0
Position
16:57186152..57240469
AA seq 576 aa
MIVFGWAVFLASRSLGQGLLLTLEEHIAHFLGTGGAATTMGNSCICRDDSGTDDSVDTQQ
QQAENSAVPTADTRSQPRDPVRPPRRGRGPHEPRRKKQNVDGLVLDTLAVIRTLVDNDQE
PPYSMITLHEMAETDEGWLDVVQSLIRVIPLEDPLGPAVITLLLDECPLPTKDALQKLTE
ILNLNGEVACQDSSHPAKHRNTSAVLGCLAEKLAGPASIGLLSPGILEYLLQCLKLQSHP
TVMLFALIALEKFAQTSENKLTISESSISDRLVTLESWANDPDYLKRQVGFCAQWSLDNL
FLKEGRQLTYEKVNLSSIRAMLNSNDVSEYLKISPHGLEARCDASSFESVRCTFCVDAGV
WYYEVTVVTSGVMQIGWATRDSKFLNHEGYGIGDDEYSCAYDGCRQLIWYNARSKPHIHP
CWKEGDTVGFLLDLNEKQMIFFLNGNQLPPEKQVFSSTVSGFFAAASFMSYQQCEFNFGA
KPFKYPPSMKFSTFNDYAFLTAEEKIILPRHRRLALLKQVSIRENCCSLCCDEVADTQLK
PCGHSDLCMDCALQLETCPLCRKEIVSRIRQISHIS
NT seq 1731 nt   +upstreamnt  +downstreamnt
atgatcgtctttggttgggccgtgttcttagcgagcagaagccttggccagggtctgttg
ttgactctcgaagagcacatagcccacttcctagggactggaggtgccgctactaccatg
ggtaattcctgtatctgccgagatgacagtggaacagatgacagtgttgacacccaacag
caacaggccgagaacagtgcagtacccactgctgacacaaggagccaaccacgggaccct
gttcggccaccaaggaggggccgaggacctcatgagccaaggagaaagaaacaaaatgtg
gatgggctagtgttggacacactggcagtaatacggactcttgtagataatgatcaggaa
cctccctattcaatgataacattacacgaaatggcagaaacagatgaaggatggttggat
gttgtccagtctttaattagagttattccactggaagatccactgggaccagctgttata
acattgttactagatgaatgtccattgcccactaaagatgcactccagaaattgactgaa
attctcaatttaaatggagaagtagcttgccaggactcaagccatcctgccaaacacagg
aacacatctgcagtcctaggctgcttggccgagaaactagcaggtcctgcaagtataggt
ttacttagcccaggaatactggaatacttgctacagtgtctgaagttacagtcccacccc
acagtcatgctttttgcacttatcgcactggaaaagtttgcacagacaagtgaaaataaa
ttgactatttctgaatccagtattagtgaccggcttgtcacattggagtcctgggctaat
gatcctgattatctgaaacgtcaagttggtttctgtgcccagtggagcttagacaatctc
tttttaaaagaaggtagacagctgacctatgagaaagtgaacttgagtagcattagggcc
atgctgaatagcaatgatgtcagcgagtacctgaagatctcacctcatggcttagaggct
cgctgtgatgcctcctcttttgaaagtgtgcgttgcaccttttgtgtggatgccggggta
tggtactatgaagtaacagtggtcacttctggcgtcatgcagattggctgggccactcga
gacagcaaattcctcaatcatgaaggctacggcattggggatgatgaatactcctgtgcg
tatgatggctgccggcagctgatttggtacaatgccagaagtaagcctcacatacaccca
tgctggaaagaaggagatacagtaggatttctgttagacttgaatgaaaagcaaatgatc
ttctttttaaatggcaaccagctgcctcctgaaaagcaagtcttttcatctactgtatct
ggattttttgctgcagctagtttcatgtcatatcaacaatgtgagttcaattttggagca
aaaccattcaaatacccaccatctatgaaatttagcacttttaatgactacgccttccta
acagctgaagaaaaaatcattttgccaaggcacaggcgtcttgctctgttgaagcaagtc
agtatccgagaaaactgctgttccctttgttgtgatgaggtagcagacacacaattgaag
ccatgtggacacagtgacctgtgcatggattgtgccttgcagctggagacctgcccattg
tgtcgtaaagaaatagtatctagaatcagacagatttctcatatttcatga

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