| Type | Description |
|---|---|
| Definition | fibrillin 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:13:00 | Quantitative proteomics reveal lineage-specific protein profiles in iPSC-derived Marfan syndrome smooth muscle cells. | 33230159 |
| 2021-04-13 10:07:00 | Continuous elevation of plasma asprosin in pregnant women complicated with gestational diabetes mellitus: A nested case-control study. | 32090964 |
| 2021-04-03 13:32:00 | Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome. | 31950671 |
| 2021-04-03 13:30:00 | Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. | 31774634 |
| 2021-03-27 14:43:00 | Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection. | 31830381 |
| Type | IDs |
|---|---|
| Synonymous | ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2 |
| Gene |
UniProtKB-ID:
FBN1_HUMAN
UniprotKB:
P35555
UniParc:
UPI0000EE4EBC
EMBL:
AC084757,
L13923,
AB177803,
X63556,
CH471082,
GU143398,
L19896,
AC084758,
X62008,
BC146854,
S54425,
S54426,
AC022467
Ensembl:
ENSG00000166147
KO:
hsa:2200
|
| Nucleutide sequences |
EMBL-CDS:
BAD16739.1,
AAI46855.1,
CAA45118.1,
AAB25244.1,
ACZ58372.1,
AAB02036.1,
EAW77354.1
Ensembl_TRS:
ENST00000316623
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000325527
RefSeq:
NP_000129.3
|
| Others |
UniRef100:
UniRef100_P35555
UniRef90:
UniRef90_P35555
UniRef50:
UniRef50_P35555
UniGene:
Hs.591133
CCDS:
CCDS32232.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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