KEGG   Homo sapiens (human): 84196
Entry
84196             CDS       T01001                                 
Symbol
USP48, DFNA85, RAP1GA1, USP31
Name
(RefSeq) ubiquitin specific peptidase 48
  KO
K11858  ubiquitin carboxyl-terminal hydrolase 48 [EC:3.4.19.12]
Organism
hsa  Homo sapiens (human)
Disease
H00604  Deafness, autosomal dominant
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    84196 (USP48)
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    84196 (USP48)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.4  Acting on peptide bonds (peptidases)
   3.4.19  Omega peptidases
    3.4.19.12  ubiquitinyl hydrolase 1
     84196 (USP48)
Peptidases and inhibitors [BR:hsa01002]
 Cysteine peptidases
  Family C19: ubiquitin-specific protease family
   84196 (USP48)
Ubiquitin system [BR:hsa04121]
 Deubiquitinating enzyme (DUB)
  Ubiquitin-specific proteases (UBPs)
   UBP/USP
    84196 (USP48)
SSDB
Motif
Pfam: UCH UCH_1 DUSP ubiquitin
Other DBs
NCBI-GeneID: 84196
NCBI-ProteinID: NP_115612
OMIM: 617445
HGNC: 18533
Ensembl: ENSG00000090686
UniProt: Q86UV5
LinkDB
Position
1:complement(21678298..21783149)
AA seq 1035 aa
MAPRLQLEKAAWRWAETVRPEEVSQEHIETAYRIWLEPCIRGVCRRNCKGNPNCLVGIGE
HIWLGEIDENSFHNIDDPNCERRKKNSFVGLTNLGATCYVNTFLQVWFLNLELRQALYLC
PSTCSDYMLGDGIQEEKDYEPQTICEHLQYLFALLQNSNRRYIDPSGFVKALGLDTGQQQ
DAQEFSKLFMSLLEDTLSKQKNPDVRNIVQQQFCGEYAYVTVCNQCGRESKLLSKFYELE
LNIQGHKQLTDCISEFLKEEKLEGDNRYFCENCQSKQNATRKIRLLSLPCTLNLQLMRFV
FDRQTGHKKKLNTYIGFSEILDMEPYVEHKGGSYVYELSAVLIHRGVSAYSGHYIAHVKD
PQSGEWYKFNDEDIEKMEGKKLQLGIEEDLAEPSKSQTRKPKCGKGTHCSRNAYMLVYRL
QTQEKPNTTVQVPAFLQELVDRDNSKFEEWCIEMAEMRKQSVDKGKAKHEEVKELYQRLP
AGAEPYEFVSLEWLQKWLDESTPTKPIDNHACLCSHDKLHPDKISIMKRISEYAADIFYS
RYGGGPRLTVKALCKECVVERCRILRLKNQLNEDYKTVNNLLKAAVKGSDGFWVGKSSLR
SWRQLALEQLDEQDGDAEQSNGKMNGSTLNKDESKEERKEEEELNFNEDILCPHGELCIS
ENERRLVSKEAWSKLQQYFPKAPEFPSYKECCSQCKILEREGEENEALHKMIANEQKTSL
PNLFQDKNRPCLSNWPEDTDVLYIVSQFFVEEWRKFVRKPTRCSPVSSVGNSALLCPHGG
LMFTFASMTKEDSKLIALIWPSEWQMIQKLFVVDHVIKITRIEVGDVNPSETQYISEPKL
CPECREGLLCQQQRDLREYTQATIYVHKVVDNKKVMKDSAPELNVSSSETEEDKEEAKPD
GEKDPDFNQSNGGTKRQKISHQNYIAYQKQVIRRSMRHRKVRGEKALLVSANQTLKELKI
QIMHAFSVAPFDQNLSIDGKILSDDCATLGTLGVIPESVILLKADEPIADYAAMDDVMQV
CMPEEGFKGTGLLGH
NT seq 3108 nt   +upstreamnt  +downstreamnt
atggccccgcggctgcagctggagaaggcggcctggcgctgggcggagacggtgcggccc
gaggaggtgtcgcaggagcacatcgagaccgcttaccgcatctggctggagccctgcatt
cgcggcgtgtgcagacgaaactgcaaaggaaatccgaattgcttggttggtattggtgag
catatttggttaggagaaatagatgaaaatagttttcataacatcgatgatcccaactgt
gagaggagaaaaaagaactcatttgtgggcctgactaaccttggagccacttgttatgtc
aacacatttcttcaagtgtggtttctcaacttggagcttcggcaggcactctacttatgt
ccaagcacttgtagtgactacatgctgggagacggcatccaagaagaaaaagattatgag
cctcaaacaatttgtgagcatctccagtacttgtttgccttgttgcaaaacagtaatagg
cgatacattgatccatcaggatttgttaaagccttgggcctggacactggacaacagcag
gatgctcaagaattttcaaagctctttatgtctctattggaagatactttgtctaaacaa
aagaatccagatgtgcgcaatattgttcaacagcagttctgtggagaatatgcctatgta
actgtttgcaaccagtgtggcagagagtctaagcttttgtcaaaattttatgagctggag
ttaaatatccaaggccacaaacagttaacagattgtatctcggaatttttgaaggaagaa
aaattagaaggagacaatcgctatttttgcgagaactgtcaaagcaaacagaatgcaaca
agaaagattcgacttcttagccttccttgcactctgaacttgcagctaatgcgttttgtc
tttgacaggcaaactggacataagaaaaagctgaatacctacattggcttctcagaaatt
ttggatatggagccttatgtggaacataaaggtgggtcctacgtgtatgaactcagcgca
gtcctcatacacagaggagtgagtgcttattctggccactacatcgcccacgtgaaagat
ccacagtctggtgaatggtataagtttaatgatgaagacatagaaaagatggaggggaag
aaattacaactagggattgaggaagatctagcagaaccttctaagtctcagacacgtaaa
cccaagtgtggcaaaggaactcattgctctcgaaatgcatatatgttggtttatagactg
caaactcaagaaaagcccaacactactgttcaagttccagcctttcttcaagagctggta
gatcgggataattccaaatttgaggagtggtgtattgaaatggctgagatgcgtaagcaa
agtgtggataaaggaaaagcaaaacacgaagaggttaaggagctgtaccaaaggttacct
gctggagctgagccctatgagtttgtctctctggaatggctgcaaaagtggttggatgaa
tcaacacctaccaaacctattgataatcacgcttgcctgtgttcccatgacaagcttcac
ccggataaaatatcaattatgaagaggatatctgaatatgcagctgacattttctatagt
agatatggaggaggtccaagactaactgtgaaagccctgtgtaaggaatgtgtagtagaa
cgttgtcgcatattgcgtctgaagaaccaactaaatgaagattataaaactgttaataat
ctgctgaaagcagcagtaaagggcagcgatggattttgggtggggaagtcctccttgcgg
agttggcgccagctagctcttgaacagctggatgagcaagatggtgatgcagaacaaagc
aacggaaagatgaacggtagcaccttaaataaagatgaatcaaaggaagaaagaaaagaa
gaggaggaattaaattttaatgaagatattctgtgtccacatggtgagttatgcatatct
gaaaatgaaagaaggcttgtttctaaagaggcttggagcaaactgcagcagtactttcca
aaggctcctgagtttccaagttacaaagagtgctgttcacagtgcaagattttagaaaga
gaaggggaagaaaatgaagccttacataagatgattgcaaacgagcaaaagacttctctc
ccaaatttgttccaggataaaaacagaccgtgtctcagtaactggccagaggatacggat
gtcctctacatcgtgtctcagttctttgtagaagagtggcggaaatttgttagaaagcct
acaagatgcagccctgtgtcatcagttgggaacagtgctcttttgtgtccccacgggggc
ctcatgtttacatttgcttccatgaccaaagaagattctaaacttatagctctcatatgg
cccagtgagtggcaaatgatacaaaagctctttgttgtggatcatgtaattaaaatcacg
agaattgaagtgggagatgtaaacccttcagaaacacagtatatttctgagcccaaactc
tgtccagaatgcagagaaggcttattgtgtcagcagcagagggacctgcgtgaatacact
caagccaccatctatgtccataaagttgtggataataaaaaggtgatgaaggattcggct
ccggaactgaatgtgagtagttctgaaacagaggaggacaaggaagaagctaaaccagat
ggagaaaaagatccagattttaatcaaagcaatggtggaacaaagcggcaaaagatatcc
catcaaaattatatagcctatcaaaagcaagttattcgccgaagtatgcgacatagaaaa
gttcgtggtgagaaagcacttctcgtttctgctaatcagacgttaaaagaattgaaaatt
cagatcatgcatgcattttcagttgctccttttgaccagaatttgtcaattgatggaaag
attttaagtgatgactgtgccaccctaggcacccttggcgtcattcctgaatctgtcatt
ttattgaaggctgatgaaccaattgcagattatgctgcaatggatgatgtcatgcaagtt
tgtatgccagaagaagggtttaaaggtactggtcttcttggacattaa

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