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Protein

Protein chibby homolog 1

Gene

CBY1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Inhibits the Wnt/Wingless pathway by binding to CTNNB1/beta-catenin and inhibiting beta-catenin-mediated transcriptional activation through competition with TCF/LEF transcription factors. Has also been shown to play a role in regulating the intracellular trafficking of polycystin-2/PKD2 and possibly of other intracellular proteins. Promotes adipocyte and cardiomyocyte differentiation.2 Publications

Miscellaneous

'Chibby' is Japanese for 'small'; the gene was so named for the RNAi phenotype seen in flies.

GO - Molecular functioni

  • beta-catenin binding Source: UniProtKB
  • identical protein binding Source: UniProtKB
  • protein homodimerization activity Source: CAFA

GO - Biological processi

  • cardiac muscle cell differentiation Source: UniProtKB
  • cell projection organization Source: UniProtKB-KW
  • fat cell differentiation Source: UniProtKB
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • negative regulation of Wnt signaling pathway Source: UniProtKB
  • protein homotetramerization Source: CAFA
  • protein localization Source: UniProtKB

Keywordsi

Biological processCilium biogenesis/degradation, Differentiation

Enzyme and pathway databases

ReactomeiR-HSA-3769402. Deactivation of the beta-catenin transactivating complex.
SignaLinkiQ9Y3M2.
SIGNORiQ9Y3M2.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein chibby homolog 1
Alternative name(s):
ARPP-binding protein
Cytosolic leucine-rich protein
PIGEA-14
PKD2 interactor, Golgi and endoplasmic reticulum-associated 1
Gene namesi
Name:CBY1
Synonyms:ARB1, C22orf2, CBY, PGEA1
ORF Names:HRIHFB2025
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:1307. CBY1.

Subcellular locationi

GO - Cellular componenti

  • cell projection Source: UniProtKB-KW
  • centriole Source: UniProtKB
  • cytosol Source: Reactome
  • nuclear speck Source: UniProtKB-SubCell
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • trans-Golgi network Source: UniProtKB

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton, Golgi apparatus, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi25776.
OpenTargetsiENSG00000100211.
PharmGKBiPA25886.

Polymorphism and mutation databases

BioMutaiCBY1.
DMDMi20454882.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000583541 – 126Protein chibby homolog 1Add BLAST126

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei9PhosphoserineBy similarity1
Modified residuei20PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y3M2.
MaxQBiQ9Y3M2.
PaxDbiQ9Y3M2.
PeptideAtlasiQ9Y3M2.
PRIDEiQ9Y3M2.

PTM databases

iPTMnetiQ9Y3M2.
PhosphoSitePlusiQ9Y3M2.

Expressioni

Tissue specificityi

Widely expressed. Expressed at higher levels in heart, skeletal muscle, kidney and placenta. Also found in brain, lung, liver and testis. Significantly down-regulated in thyroid and metastatic uterine tumors.1 Publication

Gene expression databases

BgeeiENSG00000100211.
CleanExiHS_CBY1.
ExpressionAtlasiQ9Y3M2. baseline and differential.
GenevisibleiQ9Y3M2. HS.

Interactioni

Subunit structurei

Homodimer. Interacts with polycystin-2/PKD2 and GM130. Interacts with the C-terminal region of CTNNB1 (PubMed:12712206, PubMed:16424001). Interacts (C-terminus) with C8orf4 (C-terminus), C8orf4 competes with CTNNB1 for the interaction with CBY1 (PubMed:16424001). Interacts with FAM92A; this interaction facilites targeting of FAM92A to cilium basal body (PubMed:27528616).4 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • beta-catenin binding Source: UniProtKB
  • identical protein binding Source: UniProtKB
  • protein homodimerization activity Source: CAFA

Protein-protein interaction databases

BioGridi117311. 17 interactors.
DIPiDIP-29651N.
ELMiQ9Y3M2.
IntActiQ9Y3M2. 33 interactors.
MINTiMINT-2871551.
STRINGi9606.ENSP00000216029.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4WRQX-ray2.41C/D12-29[»]
DisProtiDP00709.
ProteinModelPortaliQ9Y3M2.
SMRiQ9Y3M2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni60 – 112Minimal region for the interaction with PKD21 PublicationAdd BLAST53

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili67 – 125Sequence analysisAdd BLAST59

Sequence similaritiesi

Belongs to the chibby family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IWV4. Eukaryota.
ENOG4111NU6. LUCA.
GeneTreeiENSGT00510000047043.
HOGENOMiHOG000006694.
HOVERGENiHBG050816.
InParanoidiQ9Y3M2.
PhylomeDBiQ9Y3M2.
TreeFamiTF324419.

Family and domain databases

InterProiView protein in InterPro
IPR028118. Chibby_fam.
PfamiView protein in Pfam
PF14645. Chibby. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9Y3M2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPFFGNTFSP KKTPPRKSAS LSNLHSLDRS TREVELGLEY GSPTMNLAGQ
60 70 80 90 100
SLKFENGQWI AETGVSGGVD RREVQRLRRR NQQLEEENNL LRLKVDILLD
110 120
MLSESTAESH LMEKELDELR ISRKRK
Length:126
Mass (Da):14,470
Last modified:November 1, 1999 - v1
Checksum:i0D243AD2CC436E55
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti73E → K in AAL56062 (Ref. 1) Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF331041 mRNA. Translation: AAL56062.1.
AB111855 mRNA. Translation: BAC78839.1.
AL136686 mRNA. Translation: CAB66621.1.
AL050345 mRNA. Translation: CAB43547.1.
CR456410 mRNA. Translation: CAG30296.1.
AK311928 mRNA. Translation: BAG34869.1.
AL021707 Genomic DNA. No translation available.
CH471095 Genomic DNA. Translation: EAW60254.1.
BC016139 mRNA. Translation: AAH16139.1.
AB015347 mRNA. Translation: BAA88119.1.
BK005534 Genomic DNA. Translation: DAA05582.1.
CCDSiCCDS13974.1.
RefSeqiNP_001002880.2. NM_001002880.1.
NP_056188.1. NM_015373.3.
UniGeneiHs.334911.
Hs.744261.

Genome annotation databases

EnsembliENST00000216029; ENSP00000216029; ENSG00000100211.
ENST00000396811; ENSP00000380026; ENSG00000100211.
GeneIDi25776.
KEGGihsa:25776.
UCSCiuc003awc.5. human.

Similar proteinsi

Entry informationi

Entry nameiCBY1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y3M2
Secondary accession number(s): B2R4S2, Q66GT6, Q9UIK9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: November 1, 1999
Last modified: August 30, 2017
This is version 153 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families