| 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, 16212417, 17052462, 17098867, 18093941, 19016843, 20936779, 22750944, 23292143, 24509793, 25241761, 25764135, 26496610, 28051089, 33961781, 34591612, 35271311, 35512704 |
| GO:0005634 |
Component |
Nucleus |
IEA |
|
| GO:0005737 |
Component |
Cytoplasm |
IEA |
|
| GO:0005794 |
Component |
Golgi apparatus |
IDA |
|
| GO:0005829 |
Component |
Cytosol |
TAS |
|
| GO:0005856 |
Component |
Cytoskeleton |
IEA |
|
| GO:0005886 |
Component |
Plasma membrane |
IDA |
|
| GO:0005886 |
Component |
Plasma membrane |
IEA |
|
| GO:0005886 |
Component |
Plasma membrane |
TAS |
|
| GO:0005911 |
Component |
Cell-cell junction |
IDA |
7650039, 10460003 |
| GO:0005911 |
Component |
Cell-cell junction |
IEA |
|
| GO:0005912 |
Component |
Adherens junction |
IBA |
|
| GO:0005912 |
Component |
Adherens junction |
IEA |
|
| GO:0005915 |
Component |
Zonula adherens |
IEA |
|
| GO:0005925 |
Component |
Focal adhesion |
HDA |
21423176 |
| GO:0006915 |
Process |
Apoptotic process |
IEA |
|
| GO:0007155 |
Process |
Cell adhesion |
IEA |
|
| GO:0007155 |
Process |
Cell adhesion |
NAS |
8323564 |
| GO:0007163 |
Process |
Establishment or maintenance of cell polarity |
IEA |
|
| GO:0007224 |
Process |
Smoothened signaling pathway |
IEA |
|
| GO:0007229 |
Process |
Integrin-mediated signaling pathway |
IEA |
|
| GO:0007405 |
Process |
Neuroblast proliferation |
IEA |
|
| GO:0007406 |
Process |
Negative regulation of neuroblast proliferation |
IEA |
|
| GO:0008013 |
Function |
Beta-catenin binding |
IBA |
|
| GO:0008013 |
Function |
Beta-catenin binding |
IEA |
|
| GO:0008013 |
Function |
Beta-catenin binding |
IPI |
7650039, 7890674 |
| GO:0008092 |
Function |
Cytoskeletal protein binding |
IEA |
|
| GO:0008104 |
Process |
Intracellular protein localization |
IEA |
|
| GO:0008584 |
Process |
Male gonad development |
IEA |
|
| GO:0014704 |
Component |
Intercalated disc |
IEA |
|
| GO:0015629 |
Component |
Actin cytoskeleton |
IEA |
|
| GO:0016020 |
Component |
Membrane |
IEA |
|
| GO:0016264 |
Process |
Gap junction assembly |
IEA |
|
| GO:0016342 |
Component |
Catenin complex |
IBA |
|
| GO:0016342 |
Component |
Catenin complex |
IDA |
7650039, 28051089 |
| GO:0016477 |
Process |
Cell migration |
IBA |
|
| 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:0042127 |
Process |
Regulation of cell population proliferation |
IEA |
|
| GO:0042475 |
Process |
Odontogenesis of dentin-containing tooth |
IEA |
|
| GO:0042802 |
Function |
Identical protein binding |
IEA |
|
| GO:0042802 |
Function |
Identical protein binding |
IPI |
23292143 |
| GO:0043066 |
Process |
Negative regulation of apoptotic process |
IEA |
|
| GO:0043297 |
Process |
Apical junction assembly |
IEA |
|
| GO:0043297 |
Process |
Apical junction assembly |
NAS |
9700171 |
| GO:0043627 |
Process |
Response to estrogen |
IEA |
|
| GO:0044877 |
Function |
Protein-containing complex binding |
IEA |
|
| GO:0045295 |
Function |
Gamma-catenin binding |
IPI |
7650039, 7890674 |
| GO:0045296 |
Function |
Cadherin binding |
HDA |
25468996 |
| GO:0045296 |
Function |
Cadherin binding |
IEA |
|
| GO:0045296 |
Function |
Cadherin binding |
IPI |
7650039, 12734196 |
| GO:0045880 |
Process |
Positive regulation of smoothened signaling pathway |
IEA |
|
| GO:0048870 |
Process |
Cell motility |
IEA |
|
| GO:0051015 |
Function |
Actin filament binding |
IBA |
|
| GO:0051015 |
Function |
Actin filament binding |
IEA |
|
| GO:0070161 |
Component |
Anchoring junction |
IEA |
|
| GO:0071681 |
Process |
Cellular response to indole-3-methanol |
IDA |
10868478 |
| GO:0090136 |
Process |
Epithelial cell-cell adhesion |
IEA |
|
| GO:0097192 |
Process |
Extrinsic apoptotic signaling pathway in absence of ligand |
IEA |
|
| GO:0098609 |
Process |
Cell-cell adhesion |
IBA |
|
| GO:0098797 |
Component |
Plasma membrane protein complex |
IEA |
|
| GO:1900181 |
Process |
Negative regulation of protein localization to nucleus |
IEA |
|
| 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 |
|
|
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
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 |
| PDB |
1H6G
, 4EHP
, 4IGG
, 6UPV
, 6V2O
, 6V2P
, 7UTJ
, 9BL2
, 9BL3
, 9BL4
|
| 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 |
|
| Tissue specificity |
TISSUE SPECIFICITY: [Isoform 1]: Ubiquitously expressed in normal tissues. {ECO:0000269|PubMed:21708131}.; TISSUE SPECIFICITY: [Isoform 3]: Abundantly expressed in brain and cerebellum, also expressed in the placenta, liver, lung, colon, heart, pancreas, |
| Sequence |
|
| Sequence length |
906 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Colorectal cancer |
Likely pathogenic; Pathogenic |
rs2150336916, rs2150334022, rs2149656983, rs2149786068, rs2150359552, rs1762133912 |
RCV002274827 RCV002274829 RCV002274830 RCV002274831 RCV002276251 RCV001293821 |
| Craniosynostosis syndrome |
Likely pathogenic |
rs2150359366 |
RCV001849682 |
| CTNNA1-associated FEVR |
Likely pathogenic; Pathogenic |
rs1401839892 |
RCV002509555 |
| CTNNA1-related disorder |
Pathogenic; Likely pathogenic |
rs2532171064, rs2533923421 |
RCV003946638 RCV003896791 |
| Hereditary breast ovarian cancer syndrome |
Pathogenic |
rs2150032416 |
RCV001374509 |
| Hereditary cancer-predisposing syndrome |
Pathogenic; Likely pathogenic |
rs1760445854, rs1760858446, rs1755319649, rs1762138459, rs1764805365, rs1764809610, rs773235871, rs773383379, rs2150288001, rs2150334188, rs2150024332, rs745411817, rs2532348445, rs2532425702, rs1475281622, rs2532171023, rs371052704, rs2533587832, rs1762091435, rs2533710424, rs2533736177, rs2533821748, rs2532447844, rs2532179776, rs869312766, rs2532349558, rs2532980193, rs2533354315, rs2532448044, rs2532178840, rs2533847233, rs2150334022, rs2532446561, rs2532349261, rs2150288180, rs1758534276, rs2532170453, rs2532330256, rs2533714564, rs2533858938, rs2532447804, rs2533819466, rs2533353880, rs112478925, rs1455080825, rs1581105774, rs201498915, rs1580854940, rs1401839892, rs1580862601, rs1043413100, rs758599826, rs1753991365, rs1426385729, rs1754355304, rs1754363697, rs1763609978, rs926691029, rs1764796614, rs1181915653 View all (45 more) |
RCV003375217 RCV002395706 RCV005809565 RCV003294379 RCV002419008 RCV002420766 RCV002438828 RCV005809585 RCV003375531 RCV004612116 RCV005321001 RCV002370520 RCV002342935 RCV002409986 RCV002369305 RCV002374148 RCV002382912 RCV002389547 RCV002396667 RCV002394905 RCV002413060 RCV002423684 RCV002421960 RCV004612256 RCV000210185 RCV003164924 RCV003181619 RCV003181625 RCV003181635 RCV003216529 RCV003301439 RCV003301450 RCV003380235 RCV003380240 RCV003380242 RCV006382010 RCV006382011 RCV005323437 RCV004369444 RCV004950558 RCV006382119 RCV005814260 RCV004511201 RCV004511221 RCV004511236 RCV001021801 RCV002381837 RCV002397599 RCV002427020 RCV001013548 RCV005318576 RCV004031696 RCV004609600 RCV004031733 RCV004950152 RCV004031672 RCV002379811 RCV002402698 RCV004951371 RCV004951393 RCV004609727 |
| Hereditary diffuse gastric adenocarcinoma |
Pathogenic; Likely pathogenic |
rs1762138459, rs1764805365, rs1764809610, rs773235871, rs2150288001, rs2150024332, rs2149651992, rs745411817, rs2149656252, rs2532171023, rs371052704, rs2533710424, rs2532447844, rs1581119680, rs869312766, rs2533589704, rs2532424023, rs2533354315, rs2533847233, rs2533819573, rs2533734361, rs2533820112, rs2532178816, rs2533586897, rs1758534276, rs1356240181, rs2532171064, rs2150295101, rs1581178228, rs2533589473, rs201056930, rs2533589742, rs2533352646, rs2532170453, rs2533822595, rs2532349572, rs2532330256, rs2149776199, rs2532423112, rs2532980348, rs2533819466, rs2533589177, rs2533588489, rs2532178251, rs2532446276, rs2532982253, rs1304131217, rs1580984414, rs1581105774, rs201498915, rs1580854940, rs1580862601, rs1043413100, rs758599826, rs1753991365, rs1426385729, rs1758714268, rs1754363697, rs1763609978, rs1760465096, rs926691029, rs1760848495, rs1181915653 View all (48 more) |
RCV004036634 RCV003449963 RCV004036682 RCV003136022 RCV003138015 RCV005621131 RCV003136321 RCV003316855 RCV003453908 RCV005869815 RCV004593002 RCV003316869 RCV003454320 RCV004790262 RCV005868117 RCV003140343 RCV003140384 RCV005870107 RCV003455788 RCV003316943 RCV003316949 RCV003316982 RCV003334754 RCV003455913 RCV003455915 RCV003455917 RCV003455920 RCV003455925 RCV003455943 RCV003455949 RCV003455952 RCV003455957 RCV003455960 RCV003455964 RCV003450575 RCV003450587 RCV003450601 RCV003450602 RCV003450604 RCV003452221 RCV004442557 RCV004442582 RCV004442589 RCV004442594 RCV004589330 RCV004589340 RCV004589359 RCV004028960 RCV003316808 RCV003453719 RCV004027963 RCV004792614 RCV003455173 RCV003455238 RCV004031799 RCV003455249 RCV003455237 RCV003449677 RCV003449709 RCV005866879 RCV004590252 RCV003135953 RCV003449845 |
| Patterned macular dystrophy 2 |
Likely pathogenic; Pathogenic |
rs2533013400, rs1763595481, rs2532329302, rs869320696, rs869320697, rs2532424941, rs1356240181, rs2532329311, rs2532425020, rs2532446810, rs1581105774, rs201498915, rs1401839892 |
RCV005400538 RCV004571368 RCV004571400 RCV000210752 RCV000210750 RCV003475797 RCV004574030 RCV004555311 RCV004575707 RCV004575708 RCV004569496 RCV004569722 RCV004569721 |
| Polyposis syndrome, hereditary mixed, 1 |
Pathogenic; Likely pathogenic |
rs1762114658, rs2149656665, rs2150287805 |
RCV002275358 RCV002275719 RCV002275370 |
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Likely benign |
rs78825013 |
RCV005919220 |
| Adrenocortical carcinoma, hereditary |
Likely benign |
rs764934492 |
RCV005907191 |
| Cervical cancer |
Likely benign |
rs777194764 |
RCV005902023 |
| Cholangiocarcinoma |
Benign; Likely benign |
rs66580119, rs764185931 |
RCV005920375 RCV005907001 |
| Clear cell carcinoma of kidney |
Uncertain significance |
rs768136600 |
RCV005913591 |
| Congenital fibrosis of extraocular muscles |
Uncertain significance |
rs2533947640 |
RCV003883449 |
| Gastric cancer |
Uncertain significance |
rs1294176302, rs1580907907 |
RCV005924014 RCV005925424 |
| Hepatocellular carcinoma |
Conflicting classifications of pathogenicity |
rs200279871 |
RCV005895260 |
| Hereditary nonpolyposis colon cancer |
Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs752282736, rs2532329894, rs2532447656, rs11552052, rs142503438, rs150965493, rs28363488, rs75050399, rs2532179542, rs11552054, rs61736921, rs28363462, rs28363395, rs374705823, rs781124226, rs28363394, rs780078260, rs900896772, rs1250763367, rs751967797, rs1337385989, rs1581474079, rs200549409, rs1580907792, rs781450977, rs28363406, rs78627784, rs61736922, rs764185931, rs745606892, rs1581168117, rs767757408, rs746086252, rs1466157213, rs147022694, rs374540412, rs774704189, rs767707498, rs1362820459, rs765248090, rs1755165264 View all (26 more) |
RCV005361614 RCV005356093 RCV005356199 RCV005361225 RCV005365183 RCV005361396 RCV005361397 RCV005361398 RCV005358104 RCV005355893 RCV005355894 RCV005365340 RCV005355895 RCV005355836 RCV005355837 RCV005355892 RCV005359581 RCV005359571 RCV005359577 RCV005359561 RCV005359558 RCV005359546 RCV005359580 RCV005359529 RCV005359537 RCV005359620 RCV005359619 RCV005359615 RCV005359617 RCV005359626 RCV005359628 RCV005359623 RCV005359622 RCV005359629 RCV005359630 RCV005367602 RCV005359631 RCV005359691 RCV005359706 RCV005367672 RCV005367795 |
| Lung cancer |
Benign |
rs66580119 |
RCV005920376 |
| Malignant tumor of esophagus |
Uncertain significance |
rs1294176302 |
RCV005924013 |
| Malignant tumor of urinary bladder |
Benign; Likely benign |
rs773235871 |
RCV005912853 |
| Nonpapillary renal cell carcinoma |
Conflicting classifications of pathogenicity; Likely benign |
rs200279871, rs11552052 |
RCV005895261 RCV005931285 |
| Ovarian serous cystadenocarcinoma |
Likely benign |
rs933663149, rs78825013, rs11552052 |
RCV005919110 RCV005919221 RCV005931286 |
| Retinal dystrophy |
Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
rs1052655356, rs1554085478, rs1561520304, rs768434342, rs1461611114, rs1580907792, rs752913534, rs759962817, rs992713245, rs1754361470 |
RCV004815332 RCV000504773 RCV001075593 RCV001073498 RCV001075557 RCV001074413 RCV004813710 RCV001075523 RCV001074828 RCV001073862 |
| Schizophrenia |
Uncertain significance |
rs2532123066 |
RCV002463482 |
| Squamous cell carcinoma of the head and neck |
Uncertain significance |
rs1294176302 |
RCV005924012 |
| Thymoma |
Benign |
rs66580119 |
RCV005920374 |
| Thyroid cancer, nonmedullary, 1 |
Likely benign; Benign |
rs11552052, rs764185931 |
RCV005931287 RCV005907000 |
| Uterine corpus endometrial carcinoma |
Likely benign |
rs78825013, rs28363447 |
RCV005919222 RCV005893822 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate |
29327707 |
| Arrhythmogenic Right Ventricular Dysplasia |
Associate |
27613243 |
| Asthma |
Associate |
29956778 |
| Breast Neoplasms |
Associate |
20393555, 32051609, 36562524, 36674696 |
| Bullous Dystrophy Hereditary Macular Type |
Associate |
32717343 |
| Carcinoid Tumor |
Associate |
29327707 |
| Carcinoma Hepatocellular |
Associate |
24931142 |
| Carcinoma Hepatocellular |
Stimulate |
28258914 |
| Carcinoma Lobular |
Associate |
34115320 |
| Colorectal Neoplasms |
Associate |
27487124 |
| Craniosynostoses |
Associate |
31292255 |
| Delayed Cranial Ossification due to CBFB Haploinsufficiency |
Associate |
35617825 |
| Dementia |
Associate |
35327643 |
| Diabetic Nephropathies |
Associate |
27613243 |
| Hypoxia |
Associate |
23122428 |
| Inflammatory Breast Neoplasms |
Associate |
36592055 |
| Leukemia |
Associate |
19826047 |
| Leukemia Myeloid Acute |
Associate |
10733509, 19826047, 20671427, 27129146 |
| Lung Neoplasms |
Associate |
23122428 |
| Lymphatic Metastasis |
Associate |
27487124 |
| Myelodysplastic Syndromes |
Associate |
19826047 |
| Neoplasm Metastasis |
Associate |
34455760 |
| Neoplasms |
Associate |
19826047, 20393555, 20671427, 32997669, 34455760, 36592055 |
| Neoplasms |
Inhibit |
27487124 |
| Neuralgia |
Associate |
33494823 |
| Pain |
Associate |
33494823 |
| Pancreatic Neoplasms |
Associate |
33839271 |
| Spinal Cord Injuries |
Associate |
33494823 |
| Stomach Neoplasms |
Associate |
26182300, 29025585, 29330337, 30515673, 32051609, 34075207, 35448173, 36484990, 36562524 |
|