Homo sapiens (human): 54532 Help Entry 54532             CDS       T01001                                  Symbol USP53, PFIC7 Name (RefSeq) ubiquitin specific peptidase 53   KO K27919   inactive ubiquitin carboxyl-terminal hydrolase 53 Organism hsa  Homo sapiens (human) Disease H00624   Progressive familial intrahepatic cholestasis Brite KEGG Orthology (KO) [BR:hsa00001]  09180 Brite Hierarchies   09183 Protein families: signaling and cellular processes    03037 Cilium and associated proteins [BR:hsa03037]     54532 (USP53) Cilium and associated proteins [BR:hsa03037]  Other cilia and associated proteins   Stereociliary proteins    54532 (USP53) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  UCH UCH_1 Motif Other DBs NCBI-GeneID:  54532 NCBI-ProteinID:  NP_061923 OMIM:  617431 HGNC:  29255 Ensembl:  ENSG00000145390 UniProt:  Q70EK8 Q9H9I0 LinkDB All DBs Position 4:119212601..119295518 Genome browser AA seq 1073 aa AA seqDB search MAWVKFLRKPGGNLGKVYQPGSMLSLAPTKGLLNEPGQNSCFLNSAVQVLWQLDIFRRSL RVLTGHVCQGDACIFCALKTIFAQFQHSREKALPSDNIRHALAESFKDEQRFQLGLMDDA AECFENMLERIHFHIVPSRDADMCTSKSCITHQKFAMTLYEQCVCRSCGASSDPLPFTEF VRYISTTALCNEVERMLERHERFKPEMFAELLQAANTTDDYRKCPSNCGQKIKIRRVLMN CPEIVTIGLVWDSEHSDLTEAVVRNLATHLYLPGLFYRVTDENAKNSELNLVGMICYTSQ HYCAFAFHTKSSKWVFFDDANVKEIGTRWKDVVSKCIRCHFQPLLLFYANPDGTAVSTED ALRQVISWSHYKSVAENMGCEKPVIHKSDNLKENGFGDQAKQRENQKFPTDNISSSNRSH SHTGVGKGPAKLSHIDQREKIKDISRECALKAIEQKNLLSSQRKDLEKGQRKDLGRHRDL VDEDLSHFQSGSPPAPNGFKQHGNPHLYHSQGKGSYKHDRVVPQSRASAQIISSSKSQIL APGEKITGKVKSDNGTGYDTDSSQDSRDRGNSCDSSSKSRNRGWKPMRETLNVDSIFSES EKRQHSPRHKPNISNKPKSSKDPSFSNWPKENPKQKGLMTIYEDEMKQEIGSRSSLESNG KGAEKNKGLVEGKVHGDNWQMQRTESGYESSDHISNGSTNLDSPVIDGNGTVMDISGVKE TVCFSDQITTSNLNKERGDCTSLQSQHHLEGFRKELRNLEAGYKSHEFHPESHLQIKNHL IKRSHVHEDNGKLFPSSSLQIPKDHNAREHIHQSDEQKLEKPNECKFSEWLNIENSERTG LPFHVDNSASGKRVNSNEPSSLWSSHLRTVGLKPETAPLIQQQNIMDQCYFENSLSTECI IRSASRSDGCQMPKLFCQNLPPPLPPKKYAITSVPQSEKSESTPDVKLTEVFKATSHLPK HSLSTASEPSLEVSTHMNDERHKETFQVRECFGNTPNCPSSSSTNDFQANSGAIDAFCQP ELDSISTCPNETVSLTTYFSVDSCMTDTYRLKYHQRPKLSFPESSGFCNNSLS NT seq 3222 nt NT seq  +upstreamnt  +downstreamnt atggcatgggtaaaattcttacggaaacctggtggcaatcttggaaaagtttatcagcct ggaagtatgctatcactagcccctaccaaaggcttgttaaatgaaccaggacaaaacagc tgctttcttaatagcgctgtacaggttttatggcaattggatatattccgacgaagcttg cgggttttgactggacatgtttgtcagggagatgcctgtatattttgtgcattgaagacg atatttgcacagttccaacacagtcgagaaaaagcacttccctcagataacataaggcat gctcttgcagaaagtttcaaagatgagcagcgatttcaacttggccttatggatgatgct gcggagtgctttgaaaatatgttggagaggattcattttcacatagtgccaagcagagat gcagacatgtgtacctctaaatcttgtatcactcaccagaagtttgctatgactctgtat gaacagtgtgtgtgtcgtagctgtggagcatcgtcagatcctctaccttttacagaattt gtgcggtacatttctacaacagccttatgcaatgaggttgaaagaatgttggaaaggcat gaacgctttaaacctgaaatgtttgcagaattgctacaagcagcaaatacaacagatgac tataggaaatgtcctagtaactgtggccaaaaaataaaaattcgccgtgttttaatgaat tgcccagagattgttacaattggtttagtctgggactccgagcattctgacttgaccgaa gctgttgttcggaatctagcaacacatctttatcttcctgggcttttttatagagttact gatgaaaatgccaaaaatagtgaacttaaccttgttggtatgatctgctacaccagccaa cattattgtgcctttgcatttcacaccaaaagttccaaatgggtattttttgatgatgca aatgtgaaagagattggaactagatggaaagatgttgtctccaaatgcattcgatgccac tttcagccactacttttgttttatgcaaacccagatggcacagcagtttctactgaggat gcactcaggcaggtcatcagctggtcacattacaaatctgttgcagaaaatatgggatgt gaaaagcctgtaattcataagtcagataatttaaaagaaaatggatttggtgatcaggca aagcagagagaaaatcagaaatttccaactgataatatttcatcatctaatcggagccac agtcacacaggtgtagggaaaggaccagctaagttaagtcacattgatcaaagggaaaag ataaaagacatttccagagaatgtgctctgaaagctattgaacagaaaaacttactttct tcacaaaggaaagatttagagaagggacaaagaaaagatttaggacgacatagagatttg gttgatgaagacctttcacatttccaatctggatcacctcctgccccaaatggttttaaa caacatgggaatccacatctatatcatagtcaaggaaaaggatcatataaacatgaccga gttgtacctcagagtcgagcttctgcacaaataataagttcaagtaaatcccagattctt gctccaggagagaaaataactggcaaagttaagagtgacaatggcactggatatgacaca gacagcagccaagattctagggatagaggaaacagctgtgatagcagcagtaaaagccgg aaccgaggttggaaacctatgagagaaacattaaatgttgatagtatttttagtgaaagt gaaaaaagacagcatagtccaagacataaaccaaatatcagtaataagcctaaatctagc aaggatccgagttttagtaattggccaaaagagaatccaaagcaaaaaggtttaatgacc atatatgaagatgaaatgaagcaggaaataggaagcagaagttcccttgaatctaatgga aaaggagcagagaaaaataaaggccttgtagagggtaaagtgcatggtgataattggcag atgcaaaggactgagtctggatatgaaagcagtgatcacatcagtaatggttctactaat ttggactcacctgttatcgatggaaatggtacagtaatggatatcagtggtgttaaagaa acagtatgcttcagtgaccagattacgacaagcaacctaaataaagaacgtggggactgt acctcccttcagagccaacatcacttagaaggctttagaaaagaactcaggaatttggaa gcaggctataaatctcatgaattccacccagaatcacatttacaaataaaaaatcatttg ataaaaagatcacatgtacatgaagacaatggaaagttatttccttcatccagtctacaa atacccaaggaccataatgcaagagaacatatccaccagtcagatgaacagaaacttgaa aaaccgaatgaatgcaaattttctgagtggcttaatatagaaaattctgagagaacaggt ttgccttttcacgttgataactctgcttctgggaagagagtgaacagtaatgaaccatct tcattatggtcttcacacctaagaactgttgggttaaagccagaaactgctcctctcatc cagcaacaaaatatcatggatcaatgttactttgagaactctctatccacagaatgtata attcggtcagccagcagatctgatgggtgtcagatgccaaaacttttttgccagaatcta ccaccccctttgccaccaaagaaatatgctataaccagtgtgccacagtcagagaaaagc gaatctacacctgatgtcaaacttacagaggtgtttaaagctacctctcatcttccgaag cacagtttaagtacagcttcagaaccaagtttagaagtgagtacacatatgaatgatgaa agacataaagaaacatttcaagtgagagaatgttttggcaacacaccaaactgtccatcc agctcctcaactaacgattttcaggcaaactcaggtgccattgatgcattttgccaacca gaactagactctatttctacctgtccaaatgagacagtttcattaactacctatttttca gttgatagctgcatgacggatacatatagattgaaataccatcagaggcccaagctctct tttccagagagcagtggcttttgtaataattcactatcttag

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