Format

Send to:

Choose Destination

CBLL1 Cbl proto-oncogene like 1 [ Homo sapiens (human) ]

Gene ID: 79872, updated on 17-Jun-2019

Summary

Official Symbol
CBLL1provided by HGNC
Official Full Name
Cbl proto-oncogene like 1provided by HGNC
Primary source
HGNC:HGNC:21225
See related
Ensembl:ENSG00000105879 MIM:606872
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HAKAI; RNF188
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]
Expression
Ubiquitous expression in colon (RPKM 9.2), testis (RPKM 4.9) and 25 other tissues See more
Orthologs

Genomic context

See CBLL1 in Genome Data Viewer
Location:
7q22.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (107743697..107764997)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (107383942..107402112)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375443 Neighboring gene barrier to autointegration factor 1 pseudogene 5 Neighboring gene SLC26A4 antisense RNA 1 Neighboring gene solute carrier family 26 member 4 Neighboring gene uncharacterized LOC101927974 Neighboring gene solute carrier family 26 member 3 Neighboring gene GFI1 motif-containing MPRA enhancer 278 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class C pseudogene 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23109, MGC163401, MGC163403

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-protein transferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
ubiquitin-protein transferase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
entry of bacterium into host cell TAS
Traceable Author Statement
more info
 
mRNA methylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
protein ubiquitination TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
RNA N6-methyladenosine methyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
ubiquitin ligase complex IC
Inferred by Curator
more info
PubMed 

General protein information

Preferred Names
E3 ubiquitin-protein ligase Hakai
Names
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 protein 188
RING-type E3 ubiquitin transferase Hakai
c-Cbl-like protein 1
casitas B-lineage lymphoma-transforming sequence-like protein 1
NP_001271220.1
NP_079090.2
XP_011514882.1
XP_016868132.1
XP_016868133.1
XP_016868134.1
XP_024302704.1
XP_024302705.1
XP_024302706.1
XP_024302707.1

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.

mRNA and Protein(s)

  1. NM_001284291.1NP_001271220.1  E3 ubiquitin-protein ligase Hakai isoform 2

    See identical proteins and their annotated locations for NP_001271220.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region. The encoded isoform (2) is shorter than isoform (1).
    Source sequence(s)
    AC002467, AI055864, BC144176
    Consensus CDS
    CCDS64754.1
    UniProtKB/Swiss-Prot
    Q75N03
    Related
    ENSP00000222597.2, ENST00000222597.6
    Conserved Domains (1) summary
    cd16508
    Location:106147
    RING-HC_HAKAI_like; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Hakai, zinc finger protein 645 (ZNF645), and similar proteins
  2. NM_024814.4NP_079090.2  E3 ubiquitin-protein ligase Hakai isoform 1

    See identical proteins and their annotated locations for NP_079090.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC002467, AI055864, BC130529
    Consensus CDS
    CCDS5747.1
    UniProtKB/Swiss-Prot
    Q75N03
    Related
    ENSP00000401277.2, ENST00000440859.8
    Conserved Domains (1) summary
    cd16508
    Location:107148
    RING-HC_HAKAI_like; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Hakai, zinc finger protein 645 (ZNF645), and similar proteins

RNA

  1. NR_024199.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an alternate exon which introduces a stop codon and renders the transcript a candidate for nonsense-mediated decay (NMD).
    Source sequence(s)
    AC002467, AI055864, DB033469

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    107743697..107764997
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516580.3XP_011514882.1  E3 ubiquitin-protein ligase Hakai isoform X4

    See identical proteins and their annotated locations for XP_011514882.1

    UniProtKB/TrEMBL
    B4DDV7
    Conserved Domains (1) summary
    pfam13923
    Location:127
    zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
  2. XM_017012643.1XP_016868132.1  E3 ubiquitin-protein ligase Hakai isoform X1

    Conserved Domains (1) summary
    pfam13923
    Location:149188
    zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
  3. XM_024446938.1XP_024302706.1  E3 ubiquitin-protein ligase Hakai isoform X2

    Conserved Domains (1) summary
    cd16508
    Location:5798
    RING-HC_HAKAI_like; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Hakai, zinc finger protein 645 (ZNF645), and similar proteins
  4. XM_017012644.1XP_016868133.1  E3 ubiquitin-protein ligase Hakai isoform X3

    Conserved Domains (1) summary
    pfam13923
    Location:5897
    zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
  5. XM_024446936.1XP_024302704.1  E3 ubiquitin-protein ligase Hakai isoform X2

    Conserved Domains (1) summary
    cd16508
    Location:5798
    RING-HC_HAKAI_like; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Hakai, zinc finger protein 645 (ZNF645), and similar proteins
  6. XM_017012645.1XP_016868134.1  E3 ubiquitin-protein ligase Hakai isoform X4

    UniProtKB/TrEMBL
    B4DDV7
    Conserved Domains (1) summary
    pfam13923
    Location:127
    zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
  7. XM_024446939.1XP_024302707.1  E3 ubiquitin-protein ligase Hakai isoform X2

    Conserved Domains (1) summary
    cd16508
    Location:5798
    RING-HC_HAKAI_like; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Hakai, zinc finger protein 645 (ZNF645), and similar proteins
  8. XM_024446937.1XP_024302705.1  E3 ubiquitin-protein ligase Hakai isoform X2

    Conserved Domains (1) summary
    cd16508
    Location:5798
    RING-HC_HAKAI_like; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Hakai, zinc finger protein 645 (ZNF645), and similar proteins
Support Center