Version 5.4
| Homo sapiens Protein: FREM1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Protein | IDBP-50869.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | FREM1 | ||||||||||||||||||
| Protein Name | FRAS1 related extracellular matrix 1 | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Protein | ENSP00000370262 | ||||||||||||||||||
| InnateDB Gene | IDBG-50859 (FREM1) | ||||||||||||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||||||||||||
| Function | Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development. {ECO:0000250}. | ||||||||||||||||||
| 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}. | ||||||||||||||||||
| 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. | ||||||||||||||||||
| Tissue Specificity | |||||||||||||||||||
| Comments | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||||||||||||
| PDB ID | |||||||||||||||||||
| InterPro |
IPR001304
C-type lectin IPR003644 Na-Ca exchanger/integrin-beta4 IPR015919 Cadherin-like IPR016187 C-type lectin fold |
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| PFAM |
PF00059
PF03160 |
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| PRINTS | |||||||||||||||||||
| PIRSF | |||||||||||||||||||
| SMART |
SM00034
SM00237 |
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| TIGRFAMs | |||||||||||||||||||
| Post-translational Modifications | |||||||||||||||||||
| Modification | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q5H8C1 | ||||||||||||||||||
| PhosphoSite | PhosphoSite-Q5H8C1 | ||||||||||||||||||
| TrEMBL | C9JT55 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 158326 | ||||||||||||||||||
| UniGene | Hs.50850 | ||||||||||||||||||
| RefSeq | XP_006716787 | ||||||||||||||||||
| HUGO | HGNC:23399 | ||||||||||||||||||
| OMIM | 608944 | ||||||||||||||||||
| CCDS | CCDS47952 | ||||||||||||||||||
| HPRD | 09865 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AB160987 AK058190 AL354672 AL390732 AL512643 BC031064 BX641104 | ||||||||||||||||||
| GenPept | AAH31064 BAB71709 BAD89015 CAE46048 CAH71826 CAH73848 | ||||||||||||||||||