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 type E3
   Cul5 complex
    Target recognizing subunit
     89970 (RSPRY1)
SSDB
Motif
Pfam: SPRY zf-C3HC4_3 Prok-RING_4 RING_XB3-XBAT31
Other DBs
NCBI-GeneID: 89970
NCBI-ProteinID: NP_001292092
OMIM: 616585
HGNC: 29420
Ensembl: ENSG00000159579
UniProt: Q96DX4
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

  All links  
Disease (2)   
   OMIM (2)   
Gene (25)   
   RefGene (18)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (30)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (28)   
DNA sequence (46)   
   RefSeq(nuc) (28)   
   GenBank (9)   
   EMBL (9)   
Protein domain (4)   
   Pfam (4)   
All databases (107)   

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