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CBLL1 Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase [ Homo sapiens (human) ]

Gene ID: 79872, updated on 22-Feb-2015
Official Symbol
CBLL1provided by HGNC
Official Full Name
Cbl proto-oncogene-like 1, E3 ubiquitin protein ligaseprovided by HGNC
Primary source
HGNC:HGNC:21225
See related
Ensembl:ENSG00000105879; HPRD:07590; MIM:606872; Vega:OTTHUMG00000154809
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]
Orthologs
See CBLL1 in MapViewer
Location:
7q22.3
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 7 NC_000007.14 (107743697..107761667)
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 barrier to autointegration factor 1 pseudogene 5 Neighboring gene SLC26A4 antisense RNA 1 Neighboring gene solute carrier family 26 (anion exchanger), member 4 Neighboring gene uncharacterized LOC101927974 Neighboring gene solute carrier family 26 (anion exchanger), member 3 Neighboring gene phosphatidylinositol glycan anchor biosynthesis, class C pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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
 
ligase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
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 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
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 IEA
Inferred from Electronic Annotation
more info
 
protein ubiquitination TAS
Traceable Author Statement
more info
PubMed 
single organismal cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
ubiquitin ligase complex IC
Inferred by Curator
more info
PubMed 
Preferred Names
E3 ubiquitin-protein ligase Hakai
Names
E3 ubiquitin-protein ligase Hakai
Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1
Cbl proto-oncogene, E3 ubiquitin protein ligase-like 1
E-cadherin binding protein E7
RING finger protein 188
c-Cbl-like protein 1
casitas B-lineage lymphoma-transforming sequence-like protein 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.

mRNA and Protein(s)

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

    See proteins identical to 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
    Conserved Domains (1) summary
    cd00162
    Location:108151
    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 ...
  2. NM_024814.3NP_079090.2  E3 ubiquitin-protein ligase Hakai isoform 1

    See proteins identical to 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, OTTHUMP00000206719, ENST00000440859, OTTHUMT00000337156
    Conserved Domains (1) summary
    cd00162
    Location:109152
    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 ...

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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38 Primary Assembly

    Range
    107743697..107761667
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716132.1XP_006716195.1  

    See proteins identical to XP_006716195.1

    UniProtKB/TrEMBL
    B4DDV7
    Conserved Domains (1) summary
    pfam13923
    Location:227
    zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    107318112..107336074
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000139.1 Alternate HuRef

    Range
    101746725..101764681
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)