CTNNA1 (catenin alpha 1)

Gene

• Entrez ID: 1495
• Gene name: Catenin alpha 1
• Gene symbol: CTNNA1
• Synonyms: CAP102, MDPT2
• Chromosome: 5
• Chromosome location: 5q31.2
• Summary: This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs755215402	T>A,C,G	Pathogenic, likely-benign	Missense variant, 5 prime UTR variant, coding sequence variant, intron variant, synonymous variant
rs869312766	TGAA>-	Likely-pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs869320696	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs869320697	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1554085478	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020722	hsa-miR-155-5p	Proteomics	18668040
MIRT037739	hsa-miR-744-5p	CLASH	23622248
MIRT038473	hsa-miR-296-3p	CLASH	23622248
MIRT039085	hsa-miR-769-3p	CLASH	23622248
MIRT039674	hsa-miR-615-3p	CLASH	23622248
MIRT440863	hsa-miR-218-5p	HITS-CLIP	23212916

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001541	Process	Ovarian follicle development	IEA
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	12477722, 15657067, 16212417, 17098867, 17620599, 18093941, 19016843, 20936779, 22750944, 23292143, 24189400, 24509793, 25241761, 25764135, 26496610, 28051089
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	7650039, 10460003
GO:0005912	Component	Adherens junction	IBA	21873635
GO:0005915	Component	Zonula adherens	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007015	Process	Actin filament organization	IEA
GO:0007155	Process	Cell adhesion	NAS	8323564
GO:0007163	Process	Establishment or maintenance of cell polarity	IEA
GO:0007406	Process	Negative regulation of neuroblast proliferation	IEA
GO:0007568	Process	Aging	IEA
GO:0008013	Function	Beta-catenin binding	IBA	21873635
GO:0008013	Function	Beta-catenin binding	IPI	7650039, 7890674
GO:0008584	Process	Male gonad development	IEA
GO:0014704	Component	Intercalated disc	IEA
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0016264	Process	Gap junction assembly	IEA
GO:0016342	Component	Catenin complex	IBA	21873635
GO:0016342	Component	Catenin complex	IDA	7650039, 28051089
GO:0016477	Process	Cell migration	IBA	21873635
GO:0016600	Component	Flotillin complex	IEA
GO:0017166	Function	Vinculin binding	IPI	9700171
GO:0030027	Component	Lamellipodium	IEA
GO:0030054	Component	Cell junction	IDA
GO:0031103	Process	Axon regeneration	IEA
GO:0034332	Process	Adherens junction organization	TAS
GO:0034613	Process	Cellular protein localization	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042802	Function	Identical protein binding	IPI	23292143
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043297	Process	Apical junction assembly	NAS	9700171
GO:0043627	Process	Response to estrogen	IEA
GO:0045295	Function	Gamma-catenin binding	IPI	7650039, 7890674
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045296	Function	Cadherin binding	IPI	7650039, 12734196
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0051015	Function	Actin filament binding	IBA	21873635
GO:0051015	Function	Actin filament binding	IEA
GO:0051149	Process	Positive regulation of muscle cell differentiation	TAS
GO:0071681	Process	Cellular response to indole-3-methanol	IDA	10868478
GO:0090136	Process	Epithelial cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	IBA	21873635
GO:1900181	Process	Negative regulation of protein localization to nucleus	ISS
GO:2000146	Process	Negative regulation of cell motility	IEA
GO:2001045	Process	Negative regulation of integrin-mediated signaling pathway	IEA
GO:2001240	Process	Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA
GO:2001241	Process	Positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA

Other IDs

• MIM: 116805
• HGNC: 2509
• e!Ensembl: ENSG00000044115

Protein

• UniProt ID: P35221
• Protein name: Catenin alpha-1 (Alpha E-catenin) (Cadherin-associated protein) (Renal carcinoma antigen NY-REN-13)
• Protein function: Associates with the cytoplasmic domain of a variety of cadherins. The association of catenins to cadherins produces a complex which is linked to the actin filament network, and which seems to be of primary importance for cadherins cell-adhesion properties. Can associate with both E- and N-cadherins. Originally believed to be a stable component of E-cadherin/catenin adhesion complexes and to mediate the linkage of cadherins to the actin cytoskeleton at adherens junctions. In contrast, cortical actin was found to be much more dynamic than E-cadherin/catenin complexes and CTNNA1 was shown not to bind to F-actin when assembled in the complex suggesting a different linkage between actin and adherens junctions components. The homodimeric form may regulate actin filament assembly and inhibit actin branching by competing with the Arp2/3 complex for binding to actin filaments. Involved in the regulation of WWTR1/TAZ, YAP1 and TGFB1-dependent SMAD2 and SMAD3 nuclear accumulation (By similarity). May play a crucial role in cell differentiation.
• PDB: 1H6G, 4EHP, 4IGG, 6UPV, 6V2O, 6V2P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01044	Vinculin	19 → 339	Vinculin family	Family
  PF01044	Vinculin	333 → 867	Vinculin family	Family

• Sequence:

  MTAVHAGNINFKWDPKSLEIRTLAVERLLEPLVTQVTTLVNTNSKGPSNKKRGRSKKAHV
  LAASVEQATENFLEKGDKIAKESQFLKEELVAAVEDVRKQGDLMKAAAGEFADDPCSSVK
  RGNMVRAARALLSAVTRLLILADMADVYKLLVQLKVVEDGILKLRNAGNEQDLGIQYKAL
  KPEVDKLNIMAAKRQQELKDVGHRDQMAAARGILQKNVPILYTASQACLQHPDVAAYKAN
  RDLIYKQLQQAVTGISNAAQATASDDASQHQGGGGGELAYALNNFDKQIIVDPLSFSEER
  FRPSLEERLESIISGAALMADSSCTRDDRRERIVAECNAVRQALQDLLSEYMGNAGRKER
  SDALNSAIDKMTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYA
  QVFREHANKLIEVANLACSISNNEEGVKLVRMSASQLEALCPQVINAALALAAKPQSKLA
  QENMDLFKEQWEKQVRVLTDAVDDITSIDDFLAVSENHILEDVNKCVIALQEKDVDGLDR
  TAGAIRGRAARVIHVVTSEMDNYEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSS
  DPAQPMDENEFIDASRLVYDGIRDIRKAVLMIRTPEELDDSDFETEDFDVRSRTSVQTED
  DQLIAGQSARAIMAQLPQEQKAKIAEQVASFQEEKSKLDAEVSKWDDSGNDIIVLAKQMC
  MIMMEMTDFTRGKGPLKNTSDVISAAKKIAEAGSRMDKLGRTIADHCPDSACKQDLLAYL
  QRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSLIQAAKNLMNAVVQTVKASYVAS
  TKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKIKRASQKKHVNPVQALSEF
  KAMDSI

• Sequence length: 906