• Gene id: 9320

Gene Summary

• Gene Symbol: TRIP12   Gene   UCSC   Ensembl
• Aliases: MRD49, TRIP-12, TRIPC, ULF
• Gene name: thyroid hormone receptor interactor 12
• Alternate names: E3 ubiquitin-protein ligase TRIP12, E3 ubiquitin-protein ligase for Arf, HECT-type E3 ubiquitin transferase TRIP12, TR-interacting protein 12, probable E3 ubiquitin-protein ligase TRIP12, thyroid receptor interacting protein 12,
• Gene location: 2q36.3 (37953662: 38041914)     Exons: 9     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene is an E3 ubiquitin-protein ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damage response by regulating the stability of USP7, w
• OMIM: 604506

Protein Summary

• Protein general information: Q14669  
  • Name: E3 ubiquitin protein ligase TRIP12 (EC 2.3.2.26) (E3 ubiquitin protein ligase for Arf) (ULF) (HECT type E3 ubiquitin transferase TRIP12) (Thyroid receptor interacting protein 12) (TR interacting protein 12) (TRIP 12)
  • Length: 1992  
  • Mass: 220434
• Sequence:

  MSNRPNNNPGGSLRRSQRNTAGAQPQDDSIGGRSCSSSSAVIVPQPEDPDRANTSERQKTGQVPKKDNSRGVKRS
  ASPDYNRTNSPSSAKKPKALQHTESPSETNKPHSKSKKRHLDQEQQLKSAQSPSTSKAHTRKSGATGGSRSQKRK
  RTESSCVKSGSGSESTGAEERSAKPTKLASKSATSAKAGCSTITDSSSAASTSSSSSAVASASSTVPPGARVKQG
  KDQNKARRSRSASSPSPRRSSREKEQSKTGGSSKFDWAARFSPKVSLPKTKLSLPGSSKSETSKPGPSGLQAKLA
  SLRKSTKKRSESPPAELPSLRRSTRQKTTGSCASTSRRGSGLGKRGAAEARRQEKMADPESNQEAVNSSAARTDE
  APQGAAGAVGMTTSGESESDDSEMGRLQALLEARGLPPHLFGPLGPRMSQLFHRTIGSGASSKAQQLLQGLQASD
  ESQQLQAVIEMCQLLVMGNEETLGGFPVKSVVPALITLLQMEHNFDIMNHACRALTYMMEALPRSSAVVVDAIPV
  FLEKLQVIQCIDVAEQALTALEMLSRRHSKAILQAGGLADCLLYLEFFSINAQRNALAIAANCCQSITPDEFHFV
  ADSLPLLTQRLTHQDKKSVESTCLCFARLVDNFQHEENLLQQVASKDLLTNVQQLLVVTPPILSSGMFIMVVRMF
  SLMCSNCPTLAVQLMKQNIAETLHFLLCGASNGSCQEQIDLVPRSPQELYELTSLICELMPCLPKEGIFAVDTML
  KKGNAQNTDGAIWQWRDDRGLWHPYNRIDSRIIEQINEDTGTARAIQRKPNPLANSNTSGYSESKKDDARAQLMK
  EDPELAKSFIKTLFGVLYEVYSSSAGPAVRHKCLRAILRIIYFADAELLKDVLKNHAVSSHIASMLSSQDLKIVV
  GALQMAEILMQKLPDIFSVYFRREGVMHQVKHLAESESLLTSPPKACTNGSGSMGSTTSVSSGTATAATHAAADL
  GSPSLQHSRDDSLDLSPQGRLSDVLKRKRLPKRGPRRPKYSPPRDDDKVDNQAKSPTTTQSPKSSFLASLNPKTW
  GRLSTQSNSNNIEPARTAGGSGLARAASKDTISNNREKIKGWIKEQAHKFVERYFSSENMDGSNPALNVLQRLCA
  ATEQLNLQVDGGAECLVEIRSIVSESDVSSFEIQHSGFVKQLLLYLTSKSEKDAVSREIRLKRFLHVFFSSPLPG
  EEPIGRVEPVGNAPLLALVHKMNNCLSQMEQFPVKVHDFPSGNGTGGSFSLNRGSQALKFFNTHQLKCQLQRHPD
  CANVKQWKGGPVKIDPLALVQAIERYLVVRGYGRVREDDEDSDDDGSDEEIDESLAAQFLNSGNVRHRLQFYIGE
  HLLPYNMTVYQAVRQFSIQAEDERESTDDESNPLGRAGIWTKTHTIWYKPVREDEESNKDCVGGKRGRAQTAPTK
  TSPRNAKKHDELWHDGVCPSVSNPLEVYLIPTPPENITFEDPSLDVILLLRVLHAISRYWYYLYDNAMCKEIIPT
  SEFINSKLTAKANRQLQDPLVIMTGNIPTWLTELGKTCPFFFPFDTRQMLFYVTAFDRDRAMQRLLDTNPEINQS
  DSQDSRVAPRLDRKKRTVNREELLKQAESVMQDLGSSRAMLEIQYENEVGTGLGPTLEFYALVSQELQRADLGLW
  RGEEVTLSNPKGSQEGTKYIQNLQGLFALPFGRTAKPAHIAKVKMKFRFLGKLMAKAIMDFRLVDLPLGLPFYKW
  MLRQETSLTSHDLFDIDPVVARSVYHLEDIVRQKKRLEQDKSQTKESLQYALETLTMNGCSVEDLGLDFTLPGFP
  NIELKKGGKDIPVTIHNLEEYLRLVIFWALNEGVSRQFDSFRDGFESVFPLSHLQYFYPEELDQLLCGSKADTWD
  AKTLMECCRPDHGYTHDSRAVKFLFEILSSFDNEQQRLFLQFVTGSPRLPVGGFRSLNPPLTIVRKTFESTENPD
  DFLPSVMTCVNYLKLPDYSSIEIMREKLLIAAREGQQSFHLS

• Structural information:
  • Protein Domains: (749..83-)
    (/note="WWE-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00248-)
    (1885..199-)
    (/note="HECT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00104"-)
  • Interpro: IPR011989  IPR016024  IPR000569  IPR035983  IPR004170   IPR037197  
  • Prosite: PS50237 PS50918
  • CDD: cd00078
  • DIP: 58584
  • STRING: ENSP00000373696
• Other Databases: GeneCards:  TRIP12  Malacards:  TRIP12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:2000779	regulation of double-strand break repair	IBA	biological process
GO:1901315	negative regulation of histone H2A K63-linked ubiquitination	IBA	biological process
GO:0016607	nuclear speck	IBA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IBA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0005654	nucleoplasm	IDA	cellular component
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0000209	protein polyubiquitination	IDA	biological process
GO:2000780	negative regulation of double-strand break repair	IMP	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0061630	ubiquitin protein ligase activity	IMP	molecular function
GO:1901315	negative regulation of histone H2A K63-linked ubiquitination	IMP	biological process
GO:0045995	regulation of embryonic development	ISS	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045995	regulation of embryonic development	IEA	biological process
GO:0005654	nucleoplasm	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0046966	thyroid hormone receptor binding	IDA	molecular function
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04120	Ubiquitin mediated proteolysis

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Autosomal dominant mental retardation	KEGG:H00773
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray