CTNND1
Catenin delta-1
Also known as: CTND1_HUMAN, CTNND, KIAA0384, p120, p120cas, p120ctn
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O60716
- Gene
- CTNND1
- Ensembl
- ENSG00000198561
- Chromosome
- 11
- Canonical length
- 968 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters
- Subcellular location
- Plasma membrane,Basal body
OverviewNCBI Gene
This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010]
Canonical amino-acid sequenceUniProt
968 residues, UniProt reviewed canonical sequence.
>O60716|CTNND1
1 MDDSEVESTA SILASVKEQE AQFEKLTRAL EEERRHVSAQ LERVRVSPQD ANPLMANGTL
61 TRRHQNGRFV GDADLERQKF SDLKLNGPQD HSHLLYSTIP RMQEPGQIVE TYTEEDPEGA
121 MSVVSVETSD DGTTRRTETT VKKVVKTVTT RTVQPVAMGP DGLPVDASSV SNNYIQTLGR
181 DFRKNGNGGP GPYVGQAGTA TLPRNFHYPP DGYSRHYEDG YPGGSDNYGS LSRVTRIEER
241 YRPSMEGYRA PSRQDVYGPQ PQVRVGGSSV DLHRFHPEPY GLEDDQRSMG YDDLDYGMMS
301 DYGTARRTGT PSDPRRRLRS YEDMIGEEVP SDQYYWAPLA QHERGSLASL DSLRKGGPPP
361 PNWRQPELPE VIAMLGFRLD AVKSNAAAYL QHLCYRNDKV KTDVRKLKGI PVLVGLLDHP
421 KKEVHLGACG ALKNISFGRD QDNKIAIKNC DGVPALVRLL RKARDMDLTE VITGTLWNLS
481 SHDSIKMEIV DHALHALTDE VIIPHSGWER EPNEDCKPRH IEWESVLTNT AGCLRNVSSE
541 RSEARRKLRE CDGLVDALIF IVQAEIGQKD SDSKLVENCV CLLRNLSYQV HREIPQAERY
601 QEAAPNVANN TGPHAASCFG AKKGKDEWFS RGKKPIEDPA NDTVDFPKRT SPARGYELLF
661 QPEVVRIYIS LLKESKTPAI LEASAGAIQN LCAGRWTYGR YIRSALRQEK ALSAIADLLT
721 NEHERVVKAA SGALRNLAVD ARNKELIGKH AIPNLVKNLP GGQQNSSWNF SEDTVISILN
781 TINEVIAENL EAAKKLRETQ GIEKLVLINK SGNRSEKEVR AAALVLQTIW GYKELRKPLE
841 KEGWKKSDFQ VNLNNASRSQ SSHSYDDSTL PLIDRNQKSD KKPDREEIQM SNMGSNTKSL
901 DNNYSTPNER GDHNRTLDRS GDLGDMEPLK GTTPLMQDEG QESLEEELDV LVLDDEGGQV
961 SYPSMQKILocalizationUniProt · AlphaFold · HPA
Whether an antibody against CTNND1 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.46
- Highest tissue expression
- 135 nTPM
Expression across tissuesHPA
Tissue
- esophagus: 135 nTPM
- skin: 112 nTPM
- placenta: 102 nTPM
- stomach: 101 nTPM
- colon: 100 nTPM
- small intestine: 100 nTPM
Single-cell type
- podocytes: 143 nCPM
- foveolar cells: 139 nCPM
- microglia: 134 nCPM
- papillary tip epithelial cells: 128 nCPM
- renal collecting duct intercalated cells: 121 nCPM
- distal convoluted tubule cells: 113 nCPM
Immune cell
- intermediate monocyte: 9.4 nTPM
- myeloid DC: 6.4 nTPM
- non-classical monocyte: 5.8 nTPM
- classical monocyte: 4.8 nTPM
- plasmacytoid DC: 1.3 nTPM
- total PBMC: 1 nTPM
Brain region
- choroid plexus: 93 nTPM
- thalamus: 73 nTPM
- medulla oblongata: 68 nTPM
- white matter: 64 nTPM
- spinal cord: 63 nTPM
- cerebral cortex: 61 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CTNND1.
Disease | AllUniProt
Conditions CTNND1 is implicated in, by any mechanism.
- Blepharocheilodontic syndrome 2 (BCDS2) MIM:617681
Disease | GeneticClinVar
37 pathogenic / likely-pathogenic of 269 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Blepharocheilodontic syndrome 2
- Cleft lip with or without cleft palate
- CTNND1-related disorder
- Inborn genetic diseases
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)
- 0.19
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.08
- DepMap mean gene effect
- -0.14
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell migration involved in sprouting angiogenesis
- cell-cell adhesion
- cell-cell adhesion mediated by cadherin
- negative regulation of D-glucose transmembrane transport
- negative regulation of intracellular signal transduction
- negative regulation of transcription by RNA polymerase II
- positive regulation of protein localization to cell-cell junction
- protein stabilization
- regulation of postsynaptic membrane neurotransmitter receptor levels
- Wnt signaling pathway
- negative regulation of blood vessel branching
Molecular functions
- cadherin binding
- cell-cell adhesion mediator activity
- phosphatase binding
- phosphatase inhibitor activity
- protein sequestering activity
- signaling receptor binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CTNND1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CTNND1 as an antibody target. Whether an autoantibody or antibody against CTNND1 could matter depends on whether native CTNND1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CTNND1 is annotated at the cell surface, where native CTNND1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label CTNND1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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