UniProt ID |
Q9HCB6
|
Protein name |
Spondin-1 (F-spondin) (Vascular smooth muscle cell growth-promoting factor) |
Protein function |
Cell adhesion protein that promotes the attachment of spinal cord and sensory neuron cells and the outgrowth of neurites in vitro. May contribute to the growth and guidance of axons in both the spinal cord and the PNS (By similarity). Major fact |
PDB |
2ZOT
,
2ZOU
,
3COO
,
3Q13
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02014
|
Reeler |
44 → 172 |
Reeler domain |
Family |
PF06468
|
Spond_N |
205 → 399 |
Spondin_N |
Domain |
PF00090
|
TSP_1 |
446 → 494 |
Thrombospondin type 1 domain |
Domain |
PF00090
|
TSP_1 |
505 → 554 |
Thrombospondin type 1 domain |
Domain |
PF00090
|
TSP_1 |
562 → 610 |
Thrombospondin type 1 domain |
Domain |
PF00090
|
TSP_1 |
618 → 665 |
Thrombospondin type 1 domain |
Domain |
PF19028
|
TSP1_spondin |
669 → 720 |
Spondin-like TSP1 domain |
Domain |
PF00090
|
TSP_1 |
758 → 807 |
Thrombospondin type 1 domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Highest expression in lung, lower expression in brain, heart, kidney, liver and testis, and lowest expression in pancreas, skeletal muscle and ovary. Not expressed in spleen. {ECO:0000269|PubMed:11368520, ECO:0000269|PubMed:9872452}. |
Sequence |
|
Sequence length |
807 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Alzheimer disease |
Alzheimer`s Disease |
rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 View all (65 more) |
23535033 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Breast Cancer |
Breast Cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
|
GWAS, CBGDA |
Atrial Fibrillation |
Atrial Fibrillation |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
AA amyloidosis |
Associate
|
33627629 |
Alzheimer Disease |
Associate
|
22232349, 23471985, 23535033, 28005991, 29573041, 33627629, 37550416, 39380021 |
Atrial Fibrillation |
Associate
|
33062700 |
Atrophy |
Associate
|
26923371 |
Autistic Disorder |
Associate
|
23471985 |
Burkitt Lymphoma |
Associate
|
36354023 |
Carcinoma in Situ |
Associate
|
37179355 |
Colitis Ulcerative |
Associate
|
32322884 |
Colorectal Neoplasms |
Associate
|
24133572 |
Dementia |
Associate
|
23471985 |
Glioblastoma |
Associate
|
24158112 |
Glioma |
Associate
|
24158112 |
Heart Failure |
Associate
|
28967680, 30557359, 35595781, 38225249 |
Heart Failure Systolic |
Associate
|
35595781 |
Idiopathic Pulmonary Fibrosis |
Associate
|
31640794, 37416778 |
Inflammation |
Associate
|
35595781, 37550416 |
Lymphatic Metastasis |
Stimulate
|
36520032 |
Microphthalmia Syndromic 10 |
Associate
|
26923371 |
Neoplasms |
Associate
|
24294399 |
Osteoporosis |
Associate
|
32484721 |
Ovarian Neoplasms |
Associate
|
16103746, 20132413, 37179355 |
Ovarian Neoplasms |
Stimulate
|
24294399 |
Renal Insufficiency Chronic |
Associate
|
30557359 |
Schizophrenia |
Associate
|
23471985 |
Stomach Neoplasms |
Associate
|
36520032 |
Urinary Bladder Neoplasms |
Associate
|
32239176 |
Uterine Cervical Neoplasms |
Associate
|
36281082 |
|