• Gene id: 23074

Gene Summary

• Gene Symbol: UHRF1BP1L   Gene   UCSC   Ensembl
• Aliases: SHIP164
• Gene name: UHRF1 binding protein 1 like
• Alternate names: UHRF1-binding protein 1-like, UHRF1 (ICBP90) binding protein 1-like, syntaxin 6Habc-interacting protein of 164 kDa, syntaxin-6 Habc-interacting protein of 164 kDa,
• Gene location: 12q23.1 (100142873: 100026250)     Exons: 26     NC_000012.12

Protein Summary

• Protein general information: A0JNW5  
  • Name: UHRF1 binding protein 1 like (Syntaxin 6 Habc interacting protein of 164 kDa)
  • Length: 1464  
  • Mass: 164199
• Sequence:

  MAGIIKKQILKHLSRFTKNLSPDKINLSTLKGEGELKNLELDEEVLQNMLDLPTWLAINKVFCNKASIRIPWTKL
  KTHPICLSLDKVIMEMSTCEEPRSPNGPSPIATASGQSEYGFAEKVVEGISVSVNSIVIRIGAKAFNASFELSQL
  RIYSVNAHWEHGDLRFTRIQDPQRGEVLTFKEINWQMIRIEADATQSSHLEIMCAPVRLITNQSKIRVTLKRRLK
  DCNVIATKLVLILDDLLWVLTDSQLKAMVQYAKSLSEAIEKSTEQRKSMAPEPTQSSTVVASAQQVKTTQTSNAP
  DVNDAIVKLFNDFDVKETSHHLVISHLDLHICDDIHAKEKESNRRITGGAMQLSFTQLTIDYYPYHKAGDSCNHW
  MYFSDATKTKNGWANELLHEFECNVEMLKQAVKDHNVGSPPKSPTHASPQHTQTEKDYPLKGTCRTPSVLSQQSK
  AKLMSSSVVVRLADFNIYQVSTAEQCRSSPKSMICCNKKSLYLPQEMSAVYIEFTEYYYPDGKDFPIPSPNLYSQ
  LNALQFTVDERSILWLNQFLLDLKQSLNQFMAVYKLNDNSKSDEHVDVRVDGLMLKFVIPSEVKSECHQDQPRAI
  SIQSSEMIATNTRHCPNCRHSDLEALFQDFKDCDFFSKTYTSFPKSCDNFNLLHPIFQRHAHEQDTKMHEIYKGN
  ITPQLNKNTLKTSAATDVWAVYFSQFWIDYEGMKSGKGRPISFVDSFPLSIWICQPTRYAESQKEPQTCNQVSLN
  TSQSESSDLAGRLKRKKLLKEYYSTESEPLTNGGQKPSSSDTFFRFSPSSSEADIHLLVHVHKHVSMQINHYQYL
  LLLFLHESLILLSENLRKDVEAVTGSPASQTSICIGILLRSAELALLLHPVDQANTLKSPVSESVSPVVPDYLPT
  ENGDFLSSKRKQISRDINRIRSVTVNHMSDNRSMSVDLSHIPLKDPLLFKSASDTNLQKGISFMDYLSDKHLGKI
  SEDESSGLVYKSGSGEIGSETSDKKDSFYTDSSSILNYREDSNILSFDSDGNQNILSSTLTSKGNETIESIFKAE
  DLLPEAASLSENLDISKEETPPVRTLKSQSSLSGKPKERCPPNLAPLCVSYKNMKRSSSQMSLDTISLDSMILEE
  QLLESDGSDSHMFLEKGNKKNSTTNYRGTAESVNAGANLQNYGETSPDAISTNSEGAQENHDDLMSVVVFKITGV
  NGEIDIRGEDTEICLQVNQVTPDQLGNISLRHYLCNRPVGSDQKAVIHSKSSPEISLRFESGPGAVIHSLLAEKN
  GFLQCHIENFSTEFLTSSLMNIQHFLEDETVATVMPMKIQVSNTKINLKDDSPRSSTVSLEPAPVTVHIDHLVVE
  RSDDGSFHIRDSHMLNTGNDLKENVKSDSVLLTSGKYDLKKQRSVTQATQTSPGVPWPSQSANFPEFSFDFTREQ
  LMEENESLKQELAKAKMALAEAHLEKDALLHHIKKMTVE

• Structural information:
  • Interpro: IPR026728  IPR026854  
  • STRING: ENSP00000279907
• Other Databases: GeneCards:  UHRF1BP1L  Malacards:  UHRF1BP1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005768	endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0062069	GARP complex binding	IDA	molecular function
GO:0005769	early endosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0042803	protein homodimerization activity	IPI	molecular function

Diseases

Associated diseases	References
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq