Seroatlas · Human Serome Atlas

CBLL1

E3 ubiquitin-protein ligase Hakai

Also known as: FLJ23109, HAKAI, HAKAI_HUMAN, RNF188

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q75N03
Gene
CBLL1
Ensembl
ENSG00000105879
Chromosome
7
Canonical length
491 aa
Protein class
Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location
Nuclear speckles
Quaternary structure
Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

491 residues, UniProt reviewed canonical sequence.

>Q75N03|CBLL1
     1  MDHTDNELQG TNSSGSLGGL DVRRRIPIKL ISKQANKAKP APRTQRTINR MPAKAPPGDE
    61  EGFDYNEEER YDCKGGELFA NQRRFPGHLF WDFQINILGE KDDTPVHFCD KCGLPIKIYG
   121  RMIPCKHVFC YDCAILHEKK GDKMCPGCSD PVQRIEQCTR GSLFMCSIVQ GCKRTYLSQR
   181  DLQAHINHRH MRAGKPVTRA SLENVHPPIA PPPTEIPERF IMPPDKHHMS HIPPKQHIMM
   241  PPPPLQHVPH EHYNQPHEDI RAPPAELSMA PPPPRSVSQE TFRISTRKHS NLITVPIQDD
   301  SNSGAREPPP PAPAPAHHHP EYQGQPVVSH PHHIMPPQQH YAPPPPPPPP ISHPMPHPPQ
   361  AAGTPHLVYS QAPPPPMTSA PPPITPPPGH IIAQMPPYMN HPPPGPPPPQ HGGPPVTAPP
   421  PHHYNPNSLP QFTEDQGTLS PPFTQPGGMS PGIWPAPRGP PPPPRLQGPP SQTPLPGPHH
   481  PDQTRYRPYY Q

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CBLL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.66
Highest tissue expression
33 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 33 nTPM
  • skeletal muscle: 28 nTPM
  • testis: 20 nTPM
  • tongue: 18 nTPM
  • thymus: 17 nTPM
  • prostate: 15 nTPM

Single-cell type

  • erythrocyte progenitors: 70 nCPM
  • prostatic glandular cells: 45 nCPM
  • megakaryocyte-erythroid progenitors: 44 nCPM
  • innate lymphoid cells: 44 nCPM
  • kupffer cells: 40 nCPM
  • nk-cells: 40 nCPM

Immune cell

  • T-reg: 91 nTPM
  • basophil: 84 nTPM
  • memory CD4 T-cell: 60 nTPM
  • MAIT T-cell: 56 nTPM
  • NK-cell: 54 nTPM
  • eosinophil: 51 nTPM

Brain region

  • cerebral cortex: 28 nTPM
  • cerebellum: 26 nTPM
  • white matter: 24 nTPM
  • hypothalamus: 22 nTPM
  • basal ganglia: 22 nTPM
  • hippocampal formation: 19 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.14
gnomAD pLI
1
gnomAD missense Z
1.34
DepMap mean gene effect
-0.33
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CBLL1 as an antibody target. Whether an autoantibody or antibody against CBLL1 could matter depends on whether native CBLL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CBLL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CBLL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CBLL1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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