• Gene id: 79872

Gene Summary

• Gene Symbol: CBLL1   Gene   UCSC   Ensembl
• Aliases: HAKAI, RNF188
• Gene name: Cbl proto-oncogene like 1
• Alternate names: E3 ubiquitin-protein ligase Hakai, Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1, Cbl proto-oncogene like 1, E3 ubiquitin protein ligase, Cbl proto-oncogene, E3 ubiquitin protein ligase-like 1, E-cadherin binding protein E7, RING finger p,
• Gene location: 7q22.3 (107743696: 107764996)     Exons: 10     NC_000007.14
• Gene summary(Entrez): This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell pro
• OMIM: 606872

Protein Summary

• Protein general information: Q75N03  
  • Name: E3 ubiquitin protein ligase Hakai (EC 2.3.2.27) (Casitas B lineage lymphoma transforming sequence like protein 1) (c Cbl like protein 1) (RING finger protein 188) (RING type E3 ubiquitin transferase Hakai)
  • Length: 491  
  • Mass: 54519
• Sequence:

  MDHTDNELQGTNSSGSLGGLDVRRRIPIKLISKQANKAKPAPRTQRTINRMPAKAPPGDEEGFDYNEEERYDCKG
  GELFANQRRFPGHLFWDFQINILGEKDDTPVHFCDKCGLPIKIYGRMIPCKHVFCYDCAILHEKKGDKMCPGCSD
  PVQRIEQCTRGSLFMCSIVQGCKRTYLSQRDLQAHINHRHMRAGKPVTRASLENVHPPIAPPPTEIPERFIMPPD
  KHHMSHIPPKQHIMMPPPPLQHVPHEHYNQPHEDIRAPPAELSMAPPPPRSVSQETFRISTRKHSNLITVPIQDD
  SNSGAREPPPPAPAPAHHHPEYQGQPVVSHPHHIMPPQQHYAPPPPPPPPISHPMPHPPQAAGTPHLVYSQAPPP
  PMTSAPPPITPPPGHIIAQMPPYMNHPPPGPPPPQHGGPPVTAPPPHHYNPNSLPQFTEDQGTLSPPFTQPGGMS
  PGIWPAPRGPPPPPRLQGPPSQTPLPGPHHPDQTRYRPYYQ

• Structural information:
  • Interpro: IPR040380  IPR040383  IPR041042  IPR001841  IPR013083   IPR017907  
  • Prosite: PS00518 PS50089
  • CDD: cd16508
  • STRING: ENSP00000401277
• Other Databases: GeneCards:  CBLL1  Malacards:  CBLL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0030155	regulation of cell adhesion	IBA	biological process
GO:0016567	protein ubiquitination	IBA	biological process
GO:0036396	RNA N6-methyladenosine methyltransferase complex	IDA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0080009	mRNA methylation	IMP	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0035635	entry of bacterium into host cell	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0036396	RNA N6-methyladenosine methyltransferase complex	IEA	cellular component
GO:0045807	positive regulation of endocytosis	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007162	negative regulation of cell adhesion	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0016607	nuclear speck	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0098609	cell-cell adhesion	IDA	biological process
GO:0000151	ubiquitin ligase complex	IC	cellular component
GO:0016567	protein ubiquitination	TAS	biological process
GO:0007162	negative regulation of cell adhesion	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045807	positive regulation of endocytosis	ISS	biological process
GO:0030335	positive regulation of cell migration	ISS	biological process
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0004842	ubiquitin-protein transferase activity	ISS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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