UniProt ID |
P07737
|
Protein name |
Profilin-1 (Epididymis tissue protein Li 184a) (Profilin I) |
Protein function |
Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhib |
PDB |
1AWI
,
1CF0
,
1CJF
,
1FIK
,
1FIL
,
1PFL
,
2PAV
,
2PBD
,
3CHW
,
4X1L
,
4X1M
,
4X25
,
6NAS
,
6NBE
,
6NBW
,
7P1H
,
8BJH
,
8BJI
,
8BJJ
,
8BR0
,
8RTY
,
9AZP
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00235
|
Profilin |
2 → 140 |
Profilin |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Expressed in epididymis (at protein level). {ECO:0000269|PubMed:20736409}. |
Sequence |
|
Sequence length |
140 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Amyotrophic lateral sclerosis |
Amyotrophic Lateral Sclerosis, AMYOTROPHIC LATERAL SCLEROSIS 18, Amyotrophic lateral sclerosis |
rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs371575563, rs1402429085, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087 View all (171 more) |
23428184, 24085347, 22801503 |
Esophagus neoplasm |
Squamous cell carcinoma of esophagus |
rs28934578, rs121918714, rs1567556006, rs1575166666 |
21517111 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Mental depression |
Depressive disorder |
|
|
ClinVar |
Amyotrophic Lateral Sclerosis |
amyotrophic lateral sclerosis type 18, amyotrophic lateral sclerosis |
|
|
GenCC |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Abnormalities Drug Induced |
Associate
|
36160709 |
Adenocarcinoma |
Inhibit
|
19593789, 20143334, 21115820, 24520372, 25613364 |
Amyotrophic Lateral Sclerosis |
Associate
|
23063648, 23141414, 23634771, 24309268, 26056300, 26572741, 27432186, 27838743, 28847504, 29760185, 30166578, 30203378, 31216283, 33767237, 35688275, 36747013 View all (1 more) |
Amyotrophic lateral sclerosis 1 |
Associate
|
23063648, 27432186, 35688275 |
Anemia Aplastic |
Stimulate
|
34220798 |
Arthritis Rheumatoid |
Associate
|
33430905 |
Bipolar Disorder |
Associate
|
35821008 |
Breast Neoplasms |
Associate
|
18937284, 19593789, 20143334, 21115820, 21692986, 25084196, 25613364, 25681442, 29333087, 30318519, 37890607 |
Breast Neoplasms |
Inhibit
|
24520372, 25454514 |
Calcinosis Cutis |
Associate
|
27496138 |
Carcinoma Basal Cell |
Associate
|
29333087 |
Carcinoma Hepatocellular |
Associate
|
29391759 |
Carcinoma Renal Cell |
Associate
|
23082029, 27128972 |
Cognition Disorders |
Associate
|
23141414 |
Corneal Diseases |
Associate
|
31513338 |
Depressive Disorder Major |
Associate
|
35821008 |
DNA Repair Deficiency Disorders |
Associate
|
33590416 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
28847504 |
Drug Related Side Effects and Adverse Reactions |
Inhibit
|
32127471 |
Esophageal Squamous Cell Carcinoma |
Associate
|
25337239 |
Fibrosis |
Associate
|
35269714 |
Frontotemporal Dementia |
Associate
|
23063648, 23634771, 24309268 |
GSD IV Neuromuscular Form Fatal Perinatal |
Associate
|
29760185 |
Huntington Disease |
Associate
|
32127471 |
Inflammation |
Associate
|
37708957 |
Intellectual Disability |
Associate
|
35313204 |
Iron Overload |
Associate
|
38128927 |
Laryngeal Neoplasms |
Associate
|
24587265 |
Leukemia Megakaryoblastic Acute |
Associate
|
28546428 |
Liver Neoplasms |
Associate
|
29760185, 31216283, 33767237 |
Lymphatic Metastasis |
Associate
|
25741138, 27862305 |
Lymphoproliferative Disorders |
Inhibit
|
20618332 |
Mammary Neoplasms Animal |
Associate
|
24520372 |
Motor Neuron Disease |
Associate
|
23141414, 31216283 |
Mucopolysaccharidosis I |
Associate
|
39769211 |
Mucopolysaccharidosis III |
Associate
|
39735993 |
Mucopolysaccharidosis IV |
Associate
|
39735993 |
Multiple Myeloma |
Associate
|
29945297 |
Nasopharyngeal Carcinoma |
Inhibit
|
18384219 |
Neoplasm Invasiveness |
Inhibit
|
21115820 |
Neoplasm Metastasis |
Associate
|
24587265, 25048347, 27496138, 27862305, 30092744 |
Neoplasms |
Inhibit
|
18937284, 19593789, 20143334, 21692986, 23326535, 25681442, 26325675, 27862305 |
Neoplasms |
Associate
|
22159600, 22415225, 22761335, 25741138, 27496138, 28688208, 37753805 |
Nerve Degeneration |
Associate
|
23141414, 28847504, 30166578 |
Neurodegenerative Diseases |
Associate
|
35688275, 37576538 |
Neurotoxicity Syndromes |
Associate
|
30166578, 30203378, 33767237 |
Osteitis Deformans |
Associate
|
31991009 |
Osteosarcoma |
Associate
|
31991009 |
Ovarian Neoplasms |
Associate
|
25927284 |
Pain |
Associate
|
34608709 |
Pancreatic Neoplasms |
Inhibit
|
16215274, 28688208 |
Pancreatic Neoplasms |
Associate
|
25502777 |
Placenta Accreta |
Associate
|
30092744 |
Pre Eclampsia |
Associate
|
36160709 |
Prostatic Neoplasms |
Associate
|
23326535, 26325675 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
27862305, 40171814 |
Stomach Neoplasms |
Associate
|
25741138 |
TDP 43 Proteinopathies |
Associate
|
27432186 |
Thrombocytopenia |
Associate
|
35313204 |
Triple Negative Breast Neoplasms |
Associate
|
23430586 |
Urinary Bladder Neoplasms |
Associate
|
22159600, 26889680, 26955879, 34121689 |
Vascular Diseases |
Associate
|
36160709 |
Vascular System Injuries |
Associate
|
36160709 |
|