| Type | Description |
|---|---|
| Definition | FRAS1 related extracellular matrix 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-09-12 15:57:00 | Toll-like Interleukin 1 Receptor Regulator Is an Important Modulator of Inflammation Responsive Genes. | 30873160 |
| 2019-02-23 10:34:00 | Our results showed that p.Arg2167Trp had a weaker effect in interrupting interactions between FREM2 and FREM1 than FS-associated missense mutation p.Glu1972Lys. Overall, our data demonstrate that the homozygous mutation p.Arg2167Trp in FREM2 causes isolated Cryptophthalmos(CO), which will facilitate our better understanding of the molecular mechanisms underlying the disease | 29688405 |
| 2017-09-09 11:37:00 | we identified genome-wide significant association involving measures of central upper lip height at 9p22 within FREM1 | 28441456 |
| 2017-03-22 10:19:00 | FREM1 expression is significantly downregulated in human masticatory mucosa during wound healing | 28005267 |
| 2017-02-18 10:23:00 | this report describes a patient with a phenotype compatible with Manitoba-oculo-tricho-anal syndrome in whom two novel FREM1 mutations were identified in the compound heterozygous state thus broadening the mutational spectrum of the disease. | 28111185 |
| Type | IDs |
|---|---|
| Synonymous | BNAR, C9orf143, C9orf145, C9orf154, MOTA, TILRR, TRIGNO2 |
| Gene |
UniProtKB-ID:
FREM1_HUMAN
UniprotKB:
Q5H8C1
UniParc:
UPI000006D26A,
UPI00004589CD,
UPI00004179D4,
UPI000057A218
EMBL:
BC031064,
AL354672,
AK058190,
AL512643,
AL390732,
BX641104,
AB160987
Ensembl:
ENSG00000164946
KO:
hsa:158326
|
| Nucleutide sequences |
EMBL-CDS:
BAD89015.1,
AAH31064.2,
CAE46048.1,
BAB71709.1
Ensembl_TRS:
ENST00000427623,
ENST00000380880,
ENST00000380894,
ENST00000422223
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000412597,
ENSP00000370278,
ENSP00000370262,
ENSP00000412940
RefSeq:
XP_016869817.1,
XP_006716792.1,
NP_001356987.1,
XP_016869819.1,
NP_001356994.1,
XP_016869816.1,
XP_016869812.1,
NP_001366010.1,
XP_016869811.1,
XP_016869806.1,
XP_016869809.1,
XP_005251441.1,
XP_016869814.1,
XP_016869813.1,
NP_001356992.1,
NP_001356989.1,
NP_659403.4,
XP_016869808.1,
NP_001356990.1,
NP_001171175.1,
XP_016869810.1,
XP_016869815.1,
XP_016869818.1,
XP_011516060.1,
XP_016869805.1
|
| Others |
UniRef100:
UniRef100_Q5H8C1
UniRef90:
UniRef90_Q5H8C1
UniRef50:
UniRef50_Q5H8C1
UniGene:
Hs.50850
CCDS:
CCDS55293.1,
CCDS47952.1
|
| {{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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