UniProt ID |
O43318
|
Protein name |
Mitogen-activated protein kinase kinase kinase 7 (EC 2.7.11.25) (Transforming growth factor-beta-activated kinase 1) (TGF-beta-activated kinase 1) |
Protein function |
Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway (PubMed:10094049, PubMed:11460167, PubMed:12589052, PubMed:16845370, PubMed:16893890, PubMed:21512573, PubMed:8663074, PubMed:9079627). Pl |
PDB |
2EVA
,
2YIY
,
4GS6
,
4L3P
,
4L52
,
4L53
,
4O91
,
5E7R
,
5GJD
,
5GJF
,
5GJG
,
5J7S
,
5J8I
,
5J9L
,
5JGA
,
5JGB
,
5JGD
,
5JH6
,
5JK3
,
5V5N
,
7NTH
,
7NTI
,
8GW3
,
9FPD
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF07714
|
PK_Tyr_Ser-Thr |
36 → 284 |
Protein tyrosine and serine/threonine kinase |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Isoform 1A is the most abundant in ovary, skeletal muscle, spleen and blood mononuclear cells. Isoform 1B is highly expressed in brain, kidney and small intestine. Isoform 1C is the major form in prostate. Isoform 1D is the less abunda |
Sequence |
|
Sequence length |
606 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Bicuspid aortic valve |
Bicuspid aortic valve |
rs1569484234, rs1569484208 |
|
Brachydactyly |
Brachydactyly |
rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142 View all (22 more) |
|
Cardiospondylocarpofacial syndrome |
Cardiospondylocarpofacial syndrome |
rs886039234, rs886039235, rs886039236, rs886039237, rs1582233787 |
|
Cholestasis |
Cholestasis, Extrahepatic |
rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 |
28789951 |
Craniosynostosis |
Craniosynostosis |
rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350 |
|
Frontometaphyseal dysplasia |
Frontometaphyseal dysplasia, FRONTOMETAPHYSEAL DYSPLASIA 1, FRONTOMETAPHYSEAL DYSPLASIA 2 |
rs28935471, rs137853312, rs886039230, rs886039231, rs886039232, rs886039233, rs1180249151 |
27426733, 30914295, 25899317 |
Hearing loss |
Conductive hearing loss, Sensorineural Hearing Loss (disorder) |
rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060 View all (184 more) |
|
Mitral valve prolapse |
Mitral Valve Prolapse Syndrome |
rs768737101 |
|
Narcolepsy |
Narcolepsy |
rs104894574, rs387906655 |
19629137 |
Patent ductus arteriosus |
Patent ductus arteriosus |
rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872 |
|
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
17199135 |
Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
|
Vesicoureteral reflux |
Vesico-Ureteral Reflux |
rs587777684, rs148731211 |
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Otitis media |
Recurrent otitis media |
|
|
ClinVar |
Frontometaphyseal Dysplasia |
frontometaphyseal dysplasia |
|
|
GenCC |
Sclerosing Cholangitis |
Sclerosing Cholangitis |
|
|
GWAS |
Colorectal Cancer |
Colorectal Cancer |
In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. |
|
GWAS, CBGDA |
Oligodendroglioma |
Oligodendroglioma |
|
|
GWAS |
Breast Cancer |
Breast Cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
|
GWAS, CBGDA |
Astrocytoma |
Astrocytoma |
|
|
GWAS |
Fibromuscular Dysplasia |
Fibromuscular Dysplasia |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma |
Associate
|
26291056, 30656528 |
Aggressive Periodontitis |
Associate
|
28883894 |
Ameloblastoma |
Associate
|
34508164 |
Anemia |
Associate
|
34930825 |
Antiphospholipid Syndrome |
Associate
|
37914735 |
Arthritis Rheumatoid |
Associate
|
26776603, 27847407 |
Atrial Fibrillation |
Stimulate
|
28323847 |
Bacterial Infections |
Associate
|
27771295 |
Breast Neoplasms |
Associate
|
16000313, 19049961, 21834757, 27599572, 28746466 |
Carcinogenesis |
Associate
|
34075691 |
Carcinoma Hepatocellular |
Associate
|
21721029, 23472066, 24565101, 34841685 |
Carcinoma Non Small Cell Lung |
Associate
|
26884850 |
Carcinoma Ovarian Epithelial |
Associate
|
31485280 |
Carcinoma Renal Cell |
Associate
|
23534745 |
Carcinoma Squamous Cell |
Inhibit
|
28102840 |
Cardiomyopathies |
Associate
|
35730652 |
Colonic Neoplasms |
Associate
|
39333335 |
Colorectal Neoplasms |
Associate
|
21834757, 27655129, 29328486, 31592535, 36270986 |
Connective Tissue Diseases |
Associate
|
29467388, 35730652 |
Contracture |
Associate
|
32299812 |
Coronary Artery Disease |
Associate
|
39445733 |
Corticosteroid Binding Globulin Deficiency |
Associate
|
24024497 |
Crohn Disease |
Associate
|
26185333 |
Developmental Disabilities |
Associate
|
27426734 |
Drug Related Side Effects and Adverse Reactions |
Inhibit
|
27655129 |
Facial Dysmorphism with Multiple Malformations |
Associate
|
32299812 |
Fever |
Inhibit
|
35042442 |
Fibrosis |
Associate
|
26185333 |
Filaminopathy autosomal dominant |
Associate
|
27426733 |
Forney Robinson Pascoe syndrome |
Associate
|
27426734, 29467388, 32105826, 32299812, 35700636, 35730652 |
Frontometaphyseal dysplasia |
Associate
|
27426733, 29467388, 32299812, 35730652 |
Gastritis |
Associate
|
24082073 |
Gastrointestinal Diseases |
Associate
|
29467388 |
Glioma |
Stimulate
|
38002938 |
Growth Disorders |
Associate
|
32105826, 32299812 |
Head and Neck Neoplasms |
Associate
|
22641218 |
Heart Defects Congenital |
Associate
|
29904178 |
Heart Diseases |
Associate
|
29467388, 35730652 |
Heart Septal Defects |
Associate
|
32105826 |
Heart Valve Diseases |
Associate
|
32105826 |
Hemoglobinuria Paroxysmal |
Associate
|
17379072 |
HIV Infections |
Associate
|
26401039 |
Hypercholesterolemia |
Associate
|
39445733 |
Hyperplasia |
Associate
|
34930825 |
Inflammation |
Associate
|
17114497, 21233843, 21820422, 24082073, 24386391, 24942571, 26185333, 27426734, 29649324, 31485280, 31701553, 32299812, 34271980, 34922604, 37914735, 38359662 View all (1 more) |
Intervertebral Disc Degeneration |
Associate
|
38359662 |
Iridogoniodysgenesis and skeletal anomalies |
Associate
|
32105826 |
Joint Instability |
Associate
|
29467388 |
Kidney Neoplasms |
Associate
|
29991691 |
Legionnaires' Disease |
Associate
|
20051107 |
Leukemia |
Associate
|
10607714, 21820422, 29914415 |
Leukemia Myeloid Acute |
Associate
|
20159944 |
Lupus Erythematosus Systemic |
Associate
|
36309313 |
Lymphatic Metastasis |
Inhibit
|
23370768 |
Lymphatic Metastasis |
Associate
|
26823762, 26884850 |
Lymphoma |
Associate
|
22649101 |
Lymphoma Large B Cell Diffuse |
Associate
|
19412164, 28256087 |
Lymphoma Mantle Cell |
Associate
|
22649101 |
Melanoma |
Associate
|
17173073, 25889255, 31549767 |
Multiple Myeloma |
Associate
|
24466111, 36121114 |
Multiple Sclerosis |
Associate
|
34271980 |
Myelodysplastic Syndromes |
Associate
|
34930825 |
N syndrome |
Associate
|
27655129 |
Neoplasm Metastasis |
Associate
|
23534745, 30656528, 34841685 |
Neoplasms |
Associate
|
20520770, 21834757, 23534745, 24466111, 27426734, 27599572, 27655129, 27708225, 28345459, 30656528, 30753595, 34841685, 35361778, 38002938 |
Neoplasms |
Inhibit
|
23370768, 28102840 |
Neoplastic Syndromes Hereditary |
Associate
|
29467388 |
Neurofibromatosis Noonan syndrome |
Associate
|
26185333 |
Non alcoholic Fatty Liver Disease |
Associate
|
36495944 |
Noonan Syndrome |
Associate
|
35730652 |
Osteoarthritis |
Associate
|
24547725, 28668088 |
Ovarian Neoplasms |
Associate
|
32945454 |
Periodic fever familial autosomal dominant |
Associate
|
31009059 |
Personality Disorders |
Associate
|
33846123 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Inhibit
|
29914415 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
31521893 |
Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
29914415 |
Prostatic Neoplasms |
Associate
|
23370768, 26501111, 31300540, 32763409, 33115829, 33846123 |
Prostatitis |
Associate
|
30656528, 31300540 |
Pulmonary Disease Chronic Obstructive |
Associate
|
26617776 |
Scrub Typhus |
Associate
|
33807835 |
Skin Diseases |
Associate
|
29467388 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
22641218 |
Stomach Neoplasms |
Associate
|
24082073, 26846663, 28560435, 28714004, 34075691 |
Thakker Donnai syndrome |
Associate
|
32105826 |
Thyroid Neoplasms |
Associate
|
26823762, 33966040 |
Triple Negative Breast Neoplasms |
Associate
|
32054925, 33461373 |
Tuberculosis Spinal |
Associate
|
28829887 |
Urinary Bladder Neoplasms |
Associate
|
24466111 |
|