Type | Description |
---|---|
Definition | Fraser extracellular matrix complex subunit 1 |
Date | Results | Publications |
---|---|---|
2021-02-06 13:57:00 | Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene. | 31999076 |
2020-09-26 13:02:00 | Fraser extracellular matrix complex subunit 1 promotes liver metastasis of gastric cancer. | 31597194 |
2019-03-02 12:09:00 | Based on these data, we conclude that deficiency of FREM2, and possibly FRAS1, are associated with an increased risk of developing Congenital diaphragmatic hernia (CDH) and that loss of the FREM1/FREM2/FRAS1 complex, or its function, leads to anterior sac CDH development through its effects on mesothelial fold progression | 29618029 |
2014-11-22 12:35:00 | In 15 of 590 families, we identified recessive mutations in the genes FRAS1, FREM2, GRIP1, FREM1, ITGA8, and GREM1, all of which function in the interaction of the ureteric bud and the metanephric mesenchyme. | 24700879 |
2013-10-19 14:41:00 | Analysis of FRAS1 and STRA6 mutations in the same family with eye anomalies. | 22283518 |
Type | IDs |
---|---|
Synonymous | FRASRS1 |
Gene |
UniProtKB-ID:
FRAS1_HUMAN
UniprotKB:
Q86XX4
UniParc:
UPI0002B8CBF0,
UPI000020B086,
UPI0000DBEE7B,
UPI0000D61584,
UPI000021D4C2
EMBL:
AJ512501,
BC052281,
AB040933,
AK027833,
AK025684,
AC093652,
AC131945,
BC064487,
AC104808,
AC093886,
AL831853,
AC093897,
BC131820
Ensembl:
ENSG00000138759
KO:
hsa:80144
|
Nucleutide sequences |
EMBL-CDS:
CAD54734.1,
AAI31821.1,
BAB55399.1,
AAH52281.1,
BAB15216.1,
CAD38554.1,
AAH64487.1,
BAA96024.2
Ensembl_TRS:
ENST00000512123,
ENST00000325942
|
Protein sequencees |
Ensembl_PRO:
ENSP00000422834,
ENSP00000326330
RefSeq:
NP_001159605.1,
NP_079350.5
|
Others |
UniRef100:
UniRef100_Q86XX4
UniRef90:
UniRef90_Q86XX4
UniRef50:
UniRef50_Q86XX4
UniGene:
Hs.369448
CCDS:
CCDS54771.1,
CCDS54772.1
|
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