Version 5.4
| Mus musculus Protein: Frem1 | |||||||||
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| Summary | |||||||||
| InnateDB Protein | IDBP-267100.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | Frem1 | ||||||||
| Protein Name | Fras1 related extracellular matrix protein 1 | ||||||||
| Synonyms | |||||||||
| Species | Mus musculus | ||||||||
| Ensembl Protein | ENSMUSP00000102849 | ||||||||
| InnateDB Gene | IDBG-159685 (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:0000269PubMed:15345741}. | ||||||||
| Subcellular Localization | Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000269PubMed:15878328}. Note=Localizes at the basement membrane zone of embryonic epidermis and hair follicles. | ||||||||
| Disease Associations | Note=Defects in Frem1 are the cause of head blebs (heb) which is a spontaneous mutation that is characterized by absent or malformed eyes, which are often open at birth. Cryptophthalmos is noted in all heb homozygous animals, as is occasional hindlimb polydactyly. {ECO:0000269PubMed:15345741}. | ||||||||
| Tissue Specificity | Expressed in epidermis and hair follicles. Expressed in many developing epidermal appendages, including the whisker and sensory vibrissae, cranial and trunk hair follicles, meibomian glands, teeth, footpads, eyelash primordia and invaginating mammary glands. Limb expression localizes to sheets of dermal cells on the apical and basal surfaces of the digits but, unlike FRAS1, is excluded from the apical ectodermal ridge. Usually expressed at higher level in dermal cells underlying the differentiating epithelial components, especially underlying the epidermis of the head, limbs, and eyelids. Expression in the eyelid dermis is apparent as early as 13 dpc. Postnatal expression in the skin is limited to the dermal papillae. In the kidney, it is expressed from 12.5 dpc in the mesenchyme surrounding the branching ureteric tree, with a strong expression in the more proximal regions of these tubules rather than at the proliferating and branching ends of the ureteric buds. In hair follicle, it is selectively expressed in the vibrissal hair primordia during development. Preferentially expressed in the whisker pad epithelia of E12.5 embryos, in both the epithelial and mesenchymal cells of developing hair follicles. In the early stages of hair follicle development (i.e. stages 0-1), it is expressed in both hair placodes and dermal condensations. In stage 2, it is detected in dermal condensations and adjacent epithelia, but not in the upper region of the hair follicles. Expressed at the tip of developing hair follicles in the later stages (i.e. stages 3-5). {ECO:0000269PubMed:15345741, ECO:0000269PubMed:15878328}. | ||||||||
| Comments | |||||||||
| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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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 | MGI:2670972 | ||||||||
| InterPro |
IPR001304
C-type lectin IPR003644 Na-Ca exchanger/integrin-beta4 IPR008963 Purple acid phosphatase-like, N-terminal 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 | Q684R7 | ||||||||
| PhosphoSite | PhosphoSite-Q684R7 | ||||||||
| TrEMBL | A2ADN1 | ||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 329872 | ||||||||
| UniGene | Mm.406405 | ||||||||
| RefSeq | NP_001185740 | ||||||||
| MGI ID | |||||||||
| MGI Symbol | Frem1 | ||||||||
| OMIM | |||||||||
| CCDS | CCDS57281 | ||||||||
| HPRD | |||||||||
| IMGT | |||||||||
| EMBL | AB160986 AJ616838 AK052629 BC088732 BC138427 | ||||||||
| GenPept | AAH88732 AAI38428 BAC35069 BAD89014 CAE83577 | ||||||||