Gene

cbl

ID

ZDB-GENE-041114-207

Name

Cbl proto-oncogene, E3 ubiquitin protein ligase

Symbol

cbl Nomenclature History

Previous Names

wu:fd16a12
zgc:92560 (1)

Type

protein_coding_gene

Location

Chr: 15 Mapping Details/Browsers

Description

Predicted to enable receptor tyrosine kinase binding activity and ubiquitin protein ligase activity. Acts upstream of or within definitive hemopoiesis. Predicted to be located in Golgi apparatus; cilium; and cytosol. Predicted to be active in membrane raft and plasma membrane. Used to study Noonan syndrome and myeloproliferative neoplasm. Human ortholog(s) of this gene implicated in acute myeloid leukemia; congestive heart failure; juvenile myelomonocytic leukemia; lung non-small cell carcinoma; and myeloid neoplasm. Orthologous to human CBL (Cbl proto-oncogene).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Thisse et al., 2004

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:92560 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 5 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With cbl Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
juvenile myelomonocytic leukemia	Alliance	?Juvenile myelomonocytic leukemia	607785
		Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	613563

Associated With cbl Via Experimental Models

Human Disease	Fish	Conditions	Citations
myeloproliferative neoplasm	cbl^rj32/rj32 (TU)	standard conditions	Peng et al., 2015
Noonan syndrome	cbl^idv2/idv2	standard conditions	Rosello et al., 2021

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR017907	Zinc finger, RING-type, conserved site
Domain	IPR001841	Zinc finger, RING-type
Domain	IPR003153	Adaptor protein Cbl, N-terminal helical
Domain	IPR014741	Adaptor protein Cbl, EF hand-like
Domain	IPR014742	Adaptor protein Cbl, SH2-like domain
Domain	IPR015940	Ubiquitin-associated domain
Domain	IPR018957	Zinc finger, C3HC4 RING-type
Domain	IPR024159	Adaptor protein Cbl, PTB domain
Family	IPR024162	Adaptor protein Cbl
Homologous_superfamily	IPR009060	UBA-like superfamily
Homologous_superfamily	IPR011992	EF-hand domain pair
Homologous_superfamily	IPR013083	Zinc finger, RING/FYVE/PHD-type
Homologous_superfamily	IPR036537	Adaptor protein Cbl, N-terminal domain superfamily
Homologous_superfamily	IPR036860	SH2 domain superfamily