CBLL1 - Cbl proto-oncogene like 1 Gene

Also Known as HAKAI; RNF188

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79872

About CBLL1

Cytogenetic location: 7q22.3 Genomic coordinates (GRCh38): 7:107,744,142-107,761,667 (from NCBI)

This gene has 9 transcripts (splice variants), 191 orthologues and 1 paralogue. Ubiquitous expression in colon (RPKM 9.2), testis (RPKM 4.9) and 25 other tissues.

Summary

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 proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011]

CBLL1 Products (2)

mRNA Protein Name
NM_001284291.2 NP_001271220.1 E3 ubiquitin-protein ligase Hakai isoform 2
NM_024814.4 NP_079090.2 E3 ubiquitin-protein ligase Hakai isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
11836526 GOA
Biological Process GO Annotation Evidence References Source
involved in cell-cell adhesion IDA
IDA: Inferred from direct assay
11836526 GOA
involved in mRNA processing IMP
IMP: Inferred from mutant phenotype
29507755 GOA
Cellular Component GO Annotation Evidence References Source
part of RNA N6-methyladenosine methyltransferase complex IDA
IDA: Inferred from direct assay
29507755 GOA
part of RNA N6-methyladenosine methyltransferase complex IPI
IPI: Inferred from physical interaction
29507755 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase Hakai

  • Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1

Related Diseases

Diseases Alias
Wilms Tumor 1

  • Nephroblastoma

  • Wilms Tumor

  • WT1

  • Wilms' Tumor

  • Bilateral Wilms Tumor

  • Wilms Tumor, Type 1

  • Wilms Tumor, Somatic

  • Adult Nephroblastoma

  • Wt1 Disorder

  • Renal Embryonic Tumor

  • Adult Kidney Wilms Tumor

  • Childhood Kidney Wilms Tumor

  • Nonanaplastic Kidney Wilms Tumor
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02000 CBLL1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20871 Cbll1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27388 Cbll1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CBLL1 RGD RGD:1310703
Felis catus CBLL1 VGNC VGNC:80016
Bos taurus CBLL1 VGNC VGNC:53630
Mus musculus CBLL1 MGD MGI:2144842
Canis familiaris CBLL1 VGNC VGNC:56086
Macaca mulatta CBLL1 VGNC VGNC:70597
Others CBLL1 NCBI