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Gene id

1495

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

CTNNA1 Gene UCSC Ensembl

Aliases

CAP102, MDPT2

Gene name

catenin alpha 1

Alternate names

catenin alpha-1, alpha-E-catenin, catenin (cadherin-associated protein), alpha 1, 102kDa, renal carcinoma antigen NY-REN-13,

Gene location

5q31.2 (138753385: 138935033) Exons: 27 NC_000005.10

Gene summary(Entrez)

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]

OMIM

116805

Protein Summary

Protein general information

P35221

Name: Catenin alpha 1 (Alpha E catenin) (Cadherin associated protein) (Renal carcinoma antigen NY REN 13)

Length: 906 Mass: 100,071

Tissue specificity: Expressed ubiquitously in normal tissues.

Sequence

MTAVHAGNINFKWDPKSLEIRTLAVERLLEPLVTQVTTLVNTNSKGPSNKKRGRSKKAHVLAASVEQATENFLEK
GDKIAKESQFLKEELVAAVEDVRKQGDLMKAAAGEFADDPCSSVKRGNMVRAARALLSAVTRLLILADMADVYKL
LVQLKVVEDGILKLRNAGNEQDLGIQYKALKPEVDKLNIMAAKRQQELKDVGHRDQMAAARGILQKNVPILYTAS
QACLQHPDVAAYKANRDLIYKQLQQAVTGISNAAQATASDDASQHQGGGGGELAYALNNFDKQIIVDPLSFSEER
FRPSLEERLESIISGAALMADSSCTRDDRRERIVAECNAVRQALQDLLSEYMGNAGRKERSDALNSAIDKMTKKT
RDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIEVANLACSISNNEEGVKLV
RMSASQLEALCPQVINAALALAAKPQSKLAQENMDLFKEQWEKQVRVLTDAVDDITSIDDFLAVSENHILEDVNK
CVIALQEKDVDGLDRTAGAIRGRAARVIHVVTSEMDNYEPGVYTEKVLEATKLLSNTVMPRFTEQVEAAVEALSS
DPAQPMDENEFIDASRLVYDGIRDIRKAVLMIRTPEELDDSDFETEDFDVRSRTSVQTEDDQLIAGQSARAIMAQ
LPQEQKAKIAEQVASFQEEKSKLDAEVSKWDDSGNDIIVLAKQMCMIMMEMTDFTRGKGPLKNTSDVISAAKKIA
EAGSRMDKLGRTIADHCPDSACKQDLLAYLQRIALYCHQLNICSKVKAEVQNLGGELVVSGVDSAMSLIQAAKNL
MNAVVQTVKASYVASTKYQKSQGMASLNLPAVSWKMKAPEKKPLVKREKQDETQTKIKRASQKKHVNPVQALSEF
KAMDSI

Structural information

Interpro:	IPR001033 IPR030047 IPR006077 IPR000633
Prosite:	PS00663
Pfam:	PF01044
PDB:	1H6G 4EHP 4IGG
PDBsum:	1H6G 4EHP 4IGG
DIP:	515
MINT:	4998962
STRING:	ENSP00000304669;

Other Databases

GeneCards: CTNNA1; Malacards: CTNNA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001541	ovarian follicle developm ent	IEA	biological_process
GO:0001669	acrosomal vesicle	IEA	cellular_component
GO:0005198	structural molecule activ ity	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005794	Golgi apparatus	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005911	cell-cell junction	IDA	cellular_component
GO:0005911	cell-cell junction	IDA	cellular_component
GO:0005915	zonula adherens	IEA	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0007015	actin filament organizati on	IEA	biological_process
GO:0007155	cell adhesion	NAS	biological_process
GO:0007163	establishment or maintena nce of cell polarity	IEA	biological_process
GO:0007406	negative regulation of ne uroblast proliferation	IEA	biological_process
GO:0007568	aging	IEA	biological_process
GO:0008013	beta-catenin binding	IPI	molecular_function
GO:0008013	beta-catenin binding	IPI	molecular_function
GO:0008584	male gonad development	IEA	biological_process
GO:0014704	intercalated disc	IEA	cellular_component
GO:0015629	actin cytoskeleton	IEA	cellular_component
GO:0016264	gap junction assembly	IEA	biological_process
GO:0016342	catenin complex	IDA	cellular_component
GO:0016600	flotillin complex	IEA	cellular_component
GO:0017166	vinculin binding	IPI	molecular_function
GO:0030027	lamellipodium	IEA	cellular_component
GO:0030054	cell junction	IDA	cellular_component
GO:0031103	axon regeneration	IEA	biological_process
GO:0034332	adherens junction organiz ation	TAS	biological_process
GO:0034613	cellular protein localiza tion	IEA	biological_process
GO:0042475	odontogenesis of dentin-c ontaining tooth	IEA	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular_component
GO:0043297	apical junction assembly	NAS	biological_process
GO:0043627	response to estrogen	IEA	biological_process
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0045295	gamma-catenin binding	IPI	molecular_function
GO:0045295	gamma-catenin binding	IPI	molecular_function
GO:0045296	cadherin binding	IPI	molecular_function
GO:0045296	cadherin binding	IPI	molecular_function
GO:0045880	positive regulation of sm oothened signaling pathwa y	IEA	biological_process
GO:0051015	actin filament binding	IEA	molecular_function
GO:0051149	positive regulation of mu scle cell differentiation	TAS	biological_process
GO:0051291	protein heterooligomeriza tion	IEA	biological_process
GO:0071681	cellular response to indo le-3-methanol	IDA	biological_process
GO:0090136	epithelial cell-cell adhe sion	IEA	biological_process
GO:2000146	negative regulation of ce ll motility	IEA	biological_process
GO:2001045	negative regulation of in tegrin-mediated signaling pathway	IEA	biological_process
GO:2001240	negative regulation of ex trinsic apoptotic signali ng pathway in absence of ligand	IEA	biological_process
GO:2001241	positive regulation of ex trinsic apoptotic signali ng pathway in absence of ligand	IEA	biological_process
GO:0001541	ovarian follicle developm ent	IEA	biological_process
GO:0001669	acrosomal vesicle	IEA	cellular_component
GO:0005198	structural molecule activ ity	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005794	Golgi apparatus	IDA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005911	cell-cell junction	IEA	cellular_component
GO:0005911	cell-cell junction	IDA	cellular_component
GO:0005911	cell-cell junction	IDA	cellular_component
GO:0005912	adherens junction	IEA	cellular_component
GO:0005912	adherens junction	IEA	cellular_component
GO:0005912	adherens junction	IEA	cellular_component
GO:0005913	cell-cell adherens juncti on	IEA	cellular_component
GO:0005915	zonula adherens	IEA	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0007015	actin filament organizati on	IEA	biological_process
GO:0007155	cell adhesion	IEA	biological_process
GO:0007155	cell adhesion	IEA	biological_process
GO:0007155	cell adhesion	NAS	biological_process
GO:0007163	establishment or maintena nce of cell polarity	IEA	biological_process
GO:0007406	negative regulation of ne uroblast proliferation	IEA	biological_process
GO:0007568	aging	IEA	biological_process
GO:0008013	beta-catenin binding	IEA	molecular_function
GO:0008013	beta-catenin binding	IPI	molecular_function
GO:0008013	beta-catenin binding	IPI	molecular_function
GO:0008584	male gonad development	IEA	biological_process
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0014704	intercalated disc	IEA	cellular_component
GO:0015629	actin cytoskeleton	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016264	gap junction assembly	IEA	biological_process
GO:0016342	catenin complex	IDA	cellular_component
GO:0016600	flotillin complex	IEA	cellular_component
GO:0017166	vinculin binding	IPI	molecular_function
GO:0030027	lamellipodium	IEA	cellular_component
GO:0030054	cell junction	IEA	cellular_component
GO:0030054	cell junction	IEA	cellular_component
GO:0030054	cell junction	IDA	cellular_component
GO:0031103	axon regeneration	IEA	biological_process
GO:0034332	adherens junction organiz ation	TAS	biological_process
GO:0034613	cellular protein localiza tion	IEA	biological_process
GO:0042127	regulation of cell prolif eration	IEA	biological_process
GO:0042475	odontogenesis of dentin-c ontaining tooth	IEA	biological_process
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular_component
GO:0043297	apical junction assembly	IEA	biological_process
GO:0043297	apical junction assembly	NAS	biological_process
GO:0043627	response to estrogen	IEA	biological_process
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0045295	gamma-catenin binding	IPI	molecular_function
GO:0045295	gamma-catenin binding	IPI	molecular_function
GO:0045296	cadherin binding	IEA	molecular_function
GO:0045296	cadherin binding	IPI	molecular_function
GO:0045296	cadherin binding	IPI	molecular_function
GO:0045880	positive regulation of sm oothened signaling pathwa y	IEA	biological_process
GO:0051015	actin filament binding	IEA	molecular_function
GO:0051015	actin filament binding	IEA	molecular_function
GO:0051149	positive regulation of mu scle cell differentiation	TAS	biological_process
GO:0051291	protein heterooligomeriza tion	IEA	biological_process
GO:0071681	cellular response to indo le-3-methanol	IDA	biological_process
GO:0090136	epithelial cell-cell adhe sion	IEA	biological_process
GO:0090136	epithelial cell-cell adhe sion	IEA	biological_process
GO:2000146	negative regulation of ce ll motility	IEA	biological_process
GO:2001045	negative regulation of in tegrin-mediated signaling pathway	IEA	biological_process
GO:2001240	negative regulation of ex trinsic apoptotic signali ng pathway in absence of ligand	IEA	biological_process
GO:2001241	positive regulation of ex trinsic apoptotic signali ng pathway in absence of ligand	IEA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005794	Golgi apparatus	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005911	cell-cell junction	IDA	cellular_component
GO:0005911	cell-cell junction	IDA	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0007155	cell adhesion	NAS	biological_process
GO:0008013	beta-catenin binding	IPI	molecular_function
GO:0008013	beta-catenin binding	IPI	molecular_function
GO:0016342	catenin complex	IDA	cellular_component
GO:0017166	vinculin binding	IPI	molecular_function
GO:0030054	cell junction	IDA	cellular_component
GO:0034332	adherens junction organiz ation	TAS	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular_component
GO:0043297	apical junction assembly	NAS	biological_process
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0045295	gamma-catenin binding	IPI	molecular_function
GO:0045295	gamma-catenin binding	IPI	molecular_function
GO:0045296	cadherin binding	IPI	molecular_function
GO:0045296	cadherin binding	IPI	molecular_function
GO:0051149	positive regulation of mu scle cell differentiation	TAS	biological_process
GO:0071681	cellular response to indo le-3-methanol	IDA	biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04390  Hippo signaling pathway
hsa04670  Leukocyte transendothelial migration
hsa04520  Adherens junction
hsa05213  Endometrial cancer
hsa05100  Bacterial invasion of epithelial cells
hsa05412  Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases	References
Carotid stenosis	PMID: 17903303
Endometriosis	PMID: 10871648
Macular dystrophy	OMIM: 116805
Ovarian endometriosis	PMID: 8841809
Ovarian endometriosis	PMID: 8841809
Endometriosis	INFBASE10871648
Ovarian endometriosis	INFBASE8841809

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
10871648	Endometrio sis			115 (36 patient s without endom etriosis, 79 p atients with, e ndometriosis)		EGF EGFR E-cadherin beta-catenin alpha- catenin	Show abstract
8841809	Endometrio sis (Ovari an)					CDH1 CTNNA1 CTNNB1	Show abstract