Details for: USP53

Gene ID: 54532

Symbol: USP53

Ensembl ID: ENSG00000145390

Description: ubiquitin specific peptidase 53

Associated with

Other Information

Genular Protein ID: 1994388794

Symbol: UBP53_HUMAN

Name: Inactive ubiquitin carboxyl-terminal hydrolase 53

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 14715245

Title: Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases.

PubMed ID: 14715245

DOI: 10.1016/j.bbrc.2003.12.050

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 10718198

Title: Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 10718198

DOI: 10.1093/dnares/7.1.65

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 30250217

Title: Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.

PubMed ID: 30250217

DOI: 10.1038/s41436-018-0288-x

PubMed ID: 32124521

Title: Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.

PubMed ID: 32124521

DOI: 10.1111/liv.14422

PubMed ID: 33083013

Title: Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

PubMed ID: 33083013

DOI: 10.1038/s41525-020-00150-z

PubMed ID: 33075013

Title: Cholestasis Due to USP53 Deficiency.

PubMed ID: 33075013

DOI: 10.1097/mpg.0000000000002926

Sequence Information:

  • Length: 1073
  • Mass: 120806
  • Checksum: 2A5E8B0AB4158878
  • Sequence:
  • MAWVKFLRKP GGNLGKVYQP GSMLSLAPTK GLLNEPGQNS CFLNSAVQVL WQLDIFRRSL 
    RVLTGHVCQG DACIFCALKT IFAQFQHSRE KALPSDNIRH ALAESFKDEQ RFQLGLMDDA 
    AECFENMLER IHFHIVPSRD ADMCTSKSCI THQKFAMTLY EQCVCRSCGA SSDPLPFTEF 
    VRYISTTALC NEVERMLERH ERFKPEMFAE LLQAANTTDD YRKCPSNCGQ KIKIRRVLMN 
    CPEIVTIGLV WDSEHSDLTE AVVRNLATHL YLPGLFYRVT DENAKNSELN LVGMICYTSQ 
    HYCAFAFHTK SSKWVFFDDA NVKEIGTRWK DVVSKCIRCH FQPLLLFYAN PDGTAVSTED 
    ALRQVISWSH YKSVAENMGC EKPVIHKSDN LKENGFGDQA KQRENQKFPT DNISSSNRSH 
    SHTGVGKGPA KLSHIDQREK IKDISRECAL KAIEQKNLLS SQRKDLEKGQ RKDLGRHRDL 
    VDEDLSHFQS GSPPAPNGFK QHGNPHLYHS QGKGSYKHDR VVPQSRASAQ IISSSKSQIL 
    APGEKITGKV KSDNGTGYDT DSSQDSRDRG NSCDSSSKSR NRGWKPMRET LNVDSIFSES 
    EKRQHSPRHK PNISNKPKSS KDPSFSNWPK ENPKQKGLMT IYEDEMKQEI GSRSSLESNG 
    KGAEKNKGLV EGKVHGDNWQ MQRTESGYES SDHISNGSTN LDSPVIDGNG TVMDISGVKE 
    TVCFSDQITT SNLNKERGDC TSLQSQHHLE GFRKELRNLE AGYKSHEFHP ESHLQIKNHL 
    IKRSHVHEDN GKLFPSSSLQ IPKDHNAREH IHQSDEQKLE KPNECKFSEW LNIENSERTG 
    LPFHVDNSAS GKRVNSNEPS SLWSSHLRTV GLKPETAPLI QQQNIMDQCY FENSLSTECI 
    IRSASRSDGC QMPKLFCQNL PPPLPPKKYA ITSVPQSEKS ESTPDVKLTE VFKATSHLPK 
    HSLSTASEPS LEVSTHMNDE RHKETFQVRE CFGNTPNCPS SSSTNDFQAN SGAIDAFCQP 
    ELDSISTCPN ETVSLTTYFS VDSCMTDTYR LKYHQRPKLS FPESSGFCNN SLS

Genular Protein ID: 1793056332

Symbol: Q9H9I0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 188
  • Mass: 20829
  • Checksum: 36C7DF0E33BF8C05
  • Sequence:
  • MDQCYFENSL STECIIRSAS RSDGCQMPKL FCQNLPPPLP PKKYAITSVP QSEKSESTPG 
    VKLTEVFKAT SHLPKHSLST ASEPSLEVST HMNDERHKET FQVRECFGNT PNCPSSSSTN 
    DFQANSGAID AFCQPELDSI STCPNETVSL TTYFSVDSCM TDTYRLKYHQ RPKLSFPESS 
    GFCNNSLS

Genular Protein ID: 4283010807

Symbol: A0A8J9FKG6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

Sequence Information:

  • Length: 800
  • Mass: 90412
  • Checksum: A817596569EAA868
  • Sequence:
  • MAWVKFLRKP GGNLGKVYQP GSMLSLAPTK GLLNEPGQNS CFLNSAVQVL WQLDIFRRSL 
    RVLTGHVCQG DACIFCALKT IFAQFQHSRE KALPSDNIRH ALAESFKDEQ RFQLGLMDDA 
    AECFENMLER IHFHIVPSRD ADMCTSKSCI THQKFAMTLY EQCVCRSCGA SSDPLPFTEF 
    VRYISTTALC NEVERMLERH ERFKPEMFAE LLQAANTTDD YRKCPSNCGQ KIKIRRVLMN 
    CPEIVTIGLV WDSEHSDLTE AVVRNLATHL YLPGLFYRVT DENAKNSELN LVGMICYTSQ 
    HYCAFAFHTK SSKWVFFDDA NVKEIGTRWK DVVSKCIRCH FQPLLLFYAN PDGTAVSTED 
    ALRQVISWSH YKSVAENMGC EKPVIHKSDN LKENGFGDQA KQRENQKFPT DNISSSNRSH 
    SHTGVGKGPA KLSHIDQREK IKDISRECAL KAIEQKNLLS SQRKDLEKGQ RKDLGRHRDL 
    VDEDLSHFQS GSPPAPNGFK QHGNPHLYHS QGKGSYKHDR VVPQSRASAQ IISSSKSQIL 
    APGEKITGKV KSDNGTGYDT DSSQDSRDRG NSCDSSSKSR NRGWKPMRET LNVDSIFSES 
    EKRQHSPRHK PNISNKPKSS KDPSFSNWPK ENPKQKGLMT IYEDEMKQEI GSRSSLESNG 
    KGAEKNKGLV EGKVHGDNWQ MQRTESGYES SDHISNGSTN LDSPVIDGNG TVMDISGVKE 
    TVCFSDQITT SNLNKERGDC TSLQSQHHLE DHMYMKTMES YFLHPVYKYP RTIMQENIST 
    SQMNRNLKNR MNANFLSGLI

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.