Format

Send to:

Choose Destination

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

Gene ID: 23624, updated on 24-Nov-2020

Summary

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
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

Genomic context

See CBLC in Genome Data Viewer
Location:
19q13.32
Exon count:
13
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (44777855..44800652)
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 CEACAM16, CEACAM19 and PVR antisense RNA 1 Neighboring gene CEA cell adhesion molecule 16, tectorial membrane component Neighboring gene BCL3 transcription coactivator Neighboring gene microRNA 8085 Neighboring gene basal cell adhesion molecule (Lutheran blood group) Neighboring gene nectin cell adhesion molecule 2

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor tyrosine kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
membrane raft IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5036..27798
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1161

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, ENST00000341505.4
    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_012116.4NP_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)
    AC092066, AF117646, BC028915
    Consensus CDS
    CCDS12643.1
    UniProtKB/Swiss-Prot
    Q9ULV8
    Related
    ENSP00000494162.1, ENST00000647358.2
    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 Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    44777855..44800652
    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

Support Center