InnateDB Protein
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IDBP-363784.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FREM1
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Protein Name
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FRAS1 related extracellular matrix 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000412597
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InnateDB Gene
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IDBG-50859 (FREM1)
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Protein Structure
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Function |
Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development. {ECO:0000250}.
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Subcellular Localization |
Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000250}. Note=Localizes at the basement membrane zone of embryonic epidermis and hair follicles. {ECO:0000250}.
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Disease Associations |
Bifid nose, with or without anorectal and renal anomalies (BNAR) [MIM:608980]: A disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations. A bifid nose is a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation. {ECO:0000269PubMed:19732862}. Note=The disease is caused by mutations affecting the gene represented in this entry.Manitoba oculotrichoanal syndrome (MOTA) [MIM:248450]: A rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. {ECO:0000269PubMed:21507892}. Note=The disease is caused by mutations affecting the gene represented in this entry.Trigonocephaly 2 (TRIGNO2) [MIM:614485]: A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head. {ECO:0000269PubMed:21931569}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q5H8C1
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PhosphoSite |
PhosphoSite-Q5H8C1
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
158326
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UniGene |
Hs.50850
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RefSeq |
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HUGO |
HGNC:23399
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OMIM |
608944
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CCDS |
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HPRD |
09865
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IMGT |
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EMBL |
AB160987
AK058190
AL354672
AL390732
AL512643
BC031064
BX641104
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GenPept |
AAH31064
BAB71709
BAD89015
CAE46048
CAH71826
CAH73848
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