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CBLC Cbl proto-oncogene C [ Homo sapiens (human) ]

Gene ID: 23624, updated on 5-Nov-2017
Official Symbol
CBLCprovided by HGNC
Official Full Name
Cbl proto-oncogene Cprovided by HGNC
Primary source
HGNC:HGNC:15961
See related
Ensembl:ENSG00000142273 MIM:608453; Vega:OTTHUMG00000150715
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CBL-3; RNF57; CBL-SL
Summary
This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
Expression
Biased expression in duodenum (RPKM 19.1), small intestine (RPKM 14.9) and 11 other tissues See more
Orthologs
Location:
19q13.32
Exon count:
13
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (44777855..44800646)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45281126..45303903)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985305 Neighboring gene carcinoembryonic antigen related cell adhesion molecule 16 Neighboring gene B cell CLL/lymphoma 3 Neighboring gene microRNA 8085 Neighboring gene basal cell adhesion molecule (Lutheran blood group) Neighboring gene nectin cell adhesion molecule 2

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystem (from WikiPathways)
    Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystemThe hepatic ANGPTL8 (Angiopoietin Like Protein 8) regulatory pathway represents an up-to-date curated interactive pathway for all of the interactions from the known regulators of ANGPTL8 and updated ...
  • Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
    Bacterial invasion of epithelial cells, organism-specific biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
  • Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
    Bacterial invasion of epithelial cells, conserved biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
  • Chronic myeloid leukemia, organism-specific biosystem (from KEGG)
    Chronic myeloid leukemia, organism-specific biosystemChronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (C...
  • Chronic myeloid leukemia, conserved biosystem (from KEGG)
    Chronic myeloid leukemia, conserved biosystemChronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (C...
  • EGF/EGFR Signaling Pathway, organism-specific biosystem (from WikiPathways)
    EGF/EGFR Signaling Pathway, organism-specific biosystemEpidermal growth factor receptor (EGFR) also known as ErbB1/HER1 is a member of the ErbB family of receptor tyrosine kinases which also includes ErbB2 (Neu, HER2), ErbB3 (HER3) and ErbB4 (HER4). Sev...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • ErbB Signaling Pathway, organism-specific biosystem (from WikiPathways)
    ErbB Signaling Pathway, organism-specific biosystemThe ErbB protein family or epidermal growth factor receptor (EGFR) family is a family of four structurally related receptor tyrosine kinases. Insufficient ErbB signaling in humans is associated with ...
  • ErbB signaling pathway, organism-specific biosystem (from KEGG)
    ErbB signaling pathway, organism-specific biosystemThe ErbB family of receptor tyrosine kinases (RTKs) couples binding of extracellular growth factor ligands to intracellular signaling pathways regulating diverse biologic responses, including prolife...
  • ErbB signaling pathway, conserved biosystem (from KEGG)
    ErbB signaling pathway, conserved biosystemThe ErbB family of receptor tyrosine kinases (RTKs) couples binding of extracellular growth factor ligands to intracellular signaling pathways regulating diverse biologic responses, including prolife...
  • Insulin Signaling, organism-specific biosystem (from WikiPathways)
    Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
  • Insulin signaling pathway, organism-specific biosystem (from KEGG)
    Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Insulin signaling pathway, conserved biosystem (from KEGG)
    Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
    Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Proteoglycans in cancer, conserved biosystem (from KEGG)
    Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • T cell receptor signaling pathway, organism-specific biosystem (from KEGG)
    T cell receptor signaling pathway, organism-specific biosystemActivation of T lymphocytes is a key event for an efficient response of the immune system. It requires the involvement of the T-cell receptor (TCR) as well as costimulatory molecules such as CD28. En...
  • T cell receptor signaling pathway, conserved biosystem (from KEGG)
    T cell receptor signaling pathway, conserved biosystemActivation of T lymphocytes is a key event for an efficient response of the immune system. It requires the involvement of the T-cell receptor (TCR) as well as costimulatory molecules such as CD28. En...
  • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
    Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
  • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
    Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
epidermal growth factor receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphotyrosine residue binding IDA
Inferred from Direct Assay
more info
PubMed 
receptor tyrosine kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
 
signal transducer activity IEA
Inferred from Electronic Annotation
more info
 
ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane raft IBA
Inferred from Biological aspect of Ancestor
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
E3 ubiquitin-protein ligase CBL-C
Names
Cas-Br-M (murine) ecotropic retroviral transforming sequence c
Cas-Br-M (murine) ectropic retroviral transforming sequence c
Cbl proto-oncogene C, E3 ubiquitin protein ligase
Cbl proto-oncogene, E3 ubiquitin protein ligase C
RING finger protein 57
RING-type E3 ubiquitin transferase CBL-C
SH3-binding protein CBL-3
SH3-binding protein CBL-C
signal transduction protein CBL-C
NP_001124324.1
NP_036248.3
XP_005258753.1
XP_011524990.1
XP_011524991.1
XP_011524992.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_054718.1 RefSeqGene

    Range
    5015..27792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130852.1NP_001124324.1  E3 ubiquitin-protein ligase CBL-C isoform 2

    See identical proteins and their annotated locations for NP_001124324.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) omits an in-frame coding exon compared to variant 1, resulting in a shorter protein (isoform 2).
    Source sequence(s)
    AF117647, BC028915, BF835530
    Consensus CDS
    CCDS46109.1
    UniProtKB/Swiss-Prot
    Q9ULV8
    Related
    ENSP00000340250.4, OTTHUMP00000198328, ENST00000341505.4, OTTHUMT00000319733
    Conserved Domains (3) summary
    cd09920
    Location:226331
    SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
    pfam02262
    Location:16145
    Cbl_N; CBL proto-oncogene N-terminal domain 1
    pfam02761
    Location:149232
    Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain
  2. NM_012116.3NP_036248.3  E3 ubiquitin-protein ligase CBL-C isoform 1

    See identical proteins and their annotated locations for NP_036248.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes protein isoform 1.
    Source sequence(s)
    AF117646, BC028915, BF835530
    Consensus CDS
    CCDS12643.1
    UniProtKB/Swiss-Prot
    Q9ULV8
    Related
    ENSP00000270279.3, OTTHUMP00000198327, ENST00000270279.7, OTTHUMT00000319732
    Conserved Domains (4) summary
    cd09920
    Location:226322
    SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
    cd00162
    Location:351393
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam02262
    Location:16145
    Cbl_N; CBL proto-oncogene N-terminal domain 1
    pfam02761
    Location:149232
    Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

    Range
    44777855..44800646
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526690.2XP_011524992.1  E3 ubiquitin-protein ligase CBL-C isoform X4

    Conserved Domains (2) summary
    pfam02262
    Location:16145
    Cbl_N; CBL proto-oncogene N-terminal domain 1
    pfam02761
    Location:149219
    Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain
  2. XM_011526689.2XP_011524991.1  E3 ubiquitin-protein ligase CBL-C isoform X2

    Conserved Domains (3) summary
    cd09920
    Location:226331
    SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
    pfam02262
    Location:16145
    Cbl_N; CBL proto-oncogene N-terminal domain 1
    pfam02761
    Location:149232
    Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain
  3. XM_011526688.2XP_011524990.1  E3 ubiquitin-protein ligase CBL-C isoform X1

    Conserved Domains (4) summary
    cd09920
    Location:226322
    SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
    cd00162
    Location:351393
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam02262
    Location:16145
    Cbl_N; CBL proto-oncogene N-terminal domain 1
    pfam02761
    Location:149232
    Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain
  4. XM_005258696.3XP_005258753.1  E3 ubiquitin-protein ligase CBL-C isoform X3

    Conserved Domains (4) summary
    cd09920
    Location:226322
    SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
    cd00162
    Location:351393
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam02262
    Location:16145
    Cbl_N; CBL proto-oncogene N-terminal domain 1
    pfam02761
    Location:149232
    Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain

RNA

  1. XR_935783.2 RNA Sequence

  2. XR_243917.3 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    45283856..45306632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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