• Gene id: 9712

Gene Summary

• Gene Symbol: USP6NL   Gene   UCSC   Ensembl
• Aliases: RNTRE, TRE2NL, USP6NL-IT1
• Gene name: USP6 N-terminal like
• Alternate names: USP6 N-terminal-like protein, related to the N-terminus of tre,
• Gene location: 10p14 (133348217: 133351425)     Exons: 8     NC_000009.12
• OMIM: 605405

Protein Summary

• Protein general information: Q92738  
  • Name: USP6 N terminal like protein (Related to the N terminus of tre) (RN tre)
  • Length: 828  
  • Mass: 94104
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MNSDQDVALKLAQERAEIVAKYDRGREGAEIEPWEDADYLVYKVTDRFGFLHEEELPDHNVAVERQKHLEIERTT
  KWLKMLKGWEKYKNTEKFHRRIYKGIPLQLRGEVWALLLEIPKMKEETRDLYSKLKHRARGCSPDIRQIDLDVNR
  TFRDHIMFRDRYGVKQQSLFHVLAAYSIYNTEVGYCQGMSQITALLLMYMNEEDAFWALVKLFSGPKHAMHGFFV
  QGFPKLLRFQEHHEKILNKFLSKLKQHLDSQEIYTSFYTMKWFFQCFLDRTPFTLNLRIWDIYIFEGERVLTAMS
  YTILKLHKKHLMKLSMEELVEFFQETLAKDFFFEDDFVIEQLQISMTELKRAKLDLPEPGKEDEYPKKPLGQLPP
  ELQSWGVHHLSNGQRSVGRPSPLASGRRESGAPHRRHEHSPHPQSRTGTPERAQPPRRKSVEEESKKLKDEADFQ
  RKLPSGPQDSSRQYNHAAANQNSNATSNIRKEFVPKWNKPSDVSATERTAKYTMEGKGRAAHPALAVTVPGPAEV
  RVSNVRPKMKALDAEDGKRGSTASQYDNVPGPELDSGASVEEALERAYSQSPRHALYPPSPRKHAEPSSSPSKVS
  NKFTFKVQPPSHARYPSQLDGEARGLAHPPSYSNPPVYHGNSPKHFPTANSSFASPQFSPGTQLNPSRRPHGSTL
  SVSASPEKSYSRPSPLVLPSSRIEVLPVDTGAGGYSGNSGSPKNGKLIIPPVDYLPDNRTWSEVSYTYRPETQGQ
  SWTRDASRGNLPKYSAFQLAPFQDHGLPAVSVDSPVRYKASPAAEDASPSGYPYSGPPPPAYHYRNRDGLSIQES
  VLL

• Structural information:
  • Protein Domains: (100..29-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163"-)
  • Interpro: IPR000195  IPR035969  
  • Prosite: PS50086
  • STRING: ENSP00000277575
• Other Databases: GeneCards:  USP6NL  Malacards:  USP6NL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0035526	retrograde transport, plasma membrane to Golgi	IMP	biological process
GO:0007030	Golgi organization	IMP	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:1903358	regulation of Golgi organization	IMP	biological process
GO:0048227	plasma membrane to endosome transport	IMP	biological process
GO:0007030	Golgi organization	IMP	biological process
GO:0019068	virion assembly	IMP	biological process
GO:1902017	regulation of cilium assembly	IMP	NOT|biological process
GO:0017137	Rab GTPase binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq