Frem1
entrez
329872
canonical
uniprot
Q684R7
canonical
ensembl
ENSMUSG00000059049
resolver
ensp
ENSMUSP00000071627
resolver
ensp
ENSMUSP00000102849
resolver
genesymbol
Frem1
resolver
uniprot
A2ADN1
resolver
uniprot
Q5H8C2
resolver
uniprot
Q5M7B3
resolver
uniprot
Q8C732
resolver
uniprot_entry
A2ADN1_MOUSE
resolver
uniprot_entry
FREM1_MOUSE
resolver
uniprot_sec
Q5H8C2
resolver
uniprot_sec
Q5M7B3
resolver
uniprot_sec
Q8C732
resolver
amino_acid_sequence
MHSPGCTGPKAQWFLLLQLLLLHLDRVSATFISINRGLRVMKGSSAFLSGDHLRVAVPKEKDACRLEVVMNEPVTQRVGKLSPQVFDCHFLPNEVKYVHNGCPILDEDSVKLRLYRFTETDTFMETFLLRVYLVEPDCNIIRMSSNVLEVTEFYGLSQAIDKNLLQFDYDRTASLDCTIRLDPLRTQLPAHGKLVVVNRKSEGPRGDQPHSFFSETELGAGLKCPDGSCALELKQVASLKVSCEEFLLTGFHYQHMQPPSPNIDYIPIQLDLTDRRSKTVYKSESAWLPVYIRVGIPNQVPRAAFMAMFVLEVDQFILTPLTTSVLDCEEDETPKPLLVFNITKAPLQGYVTHLLDHTRPISSFTWKDLSDMQVAYQPPNSSHPERRHYTMELEVYDFFFERSAPITVHISIRTADTNAPRVSWNTGLNLLEGQSRAITWEQFQIVDNDDIGAVQLVTIGGLQHGRLTVREGKGFLFTVTDLQAGVVRYHHDDSDTTKDFVAFRIFDGHHSSHHKFPINILPKDDSPPFLITNVVIELEEGKTILIQGSMLRASDMDSSDDYIFFNITKFPQAGEIMKKPGPRLIGYPVPGFLQRDLFSGIIYYRHFGGEIFEDSFEFVLWDSHEPPNLSVPQVVTIHITPVDDQLPKEAPGISRHLVVKETEVAYITKKHLHFLDMESRDGELIYTVTRPPCFSFSHRHLDAGKLFMVDSIPKLTKNPTAPGLSSFTQGLILISANQHTCSSQFASQHAVNHMKVAYMPPMQDIGPSPRHVQFTVSVSNQHGGALHGICFNITVLPVDNQVPEVFTNTLRVVEGGQCTISTEHILVSDVDTPLDSISLSLKERPLHGGVELDGFPLNPRGTFSWRDLNTLKVWYQHDGSEVLQDEIFLEVTDGTNSAAFVLHIEVFPVNDEPPILKADLIPMMHCSEGGEVTITPEYISATDADSDDLELLFLIAREPQHGVVRKAGLHVDRFSQGDVISGAVTYKHTGGEIGLEPCSDTVVLVVSDGEADPLMNGCCYDGPDSSVPLHKSFPTYQLNITVHPVDNQPPSIIIGRMLTVDEGFSAALTTHHLTVVDWDTAPDDLKFMLASQPQFGYLENALPSAGFEKSNIGIRIASFQWTDMKASHINYVQSRHLRVEPTADQFTVYATDGKHRSLETTFHVIINPTNDEAPDLAVQNITVYEGHMVELDSSIISATDRDIPKDPLLFSIALKPQHGLLVDAAISKDSHQIKQLQHEIHSFSVDLLKNGMKLVYAHDDSESSADNFVIQLSDGKHKILKTISVNITPVNDETPTLSKKAEISMAVGDTRVLSSAVLSATDKDSPREKIHYVFERLPQNGQLQLKIGRDWVPLSTGMQCTQEDVDLNLLRYTHAGKTDSQDGDSFTFYLWDEDNRSPAFDCHIIIEDMGKGDIVIHAKPLVVVKGDRGLLTTATLLAVDGADKPEELLYLITSPPRHGQVEYVHSPGVPIASFSQMDIAGQTVCYIHKSRTAVPTDSFRFTISNGLQTQRGVFEITLQTVDSALPVLTKNKRLRLAEGAMGLLSADHLQLTDPDTPPENLTFFLAQLPRHGYLFLRGKALQHNFTQRDVDSGGVAYQHSGGGAREDYFTFLATDRKNQGFVVDGKVQKEPVRFTIQVDQLDKAAPRITHLHSPTQVGLLKNGCYGIYITSRVLKASDPDTEDDQIIFKILRGPLYGRLENTTTGEFIHERFSQKDLSHKTILYIINPSLQVTSDILEFQAMDPTGNTATPQSLDLRWSYIEWAQTAYEVCENVGLLPLEVTRRGYPMDSAFVGVEVNQVSATVGKDFTVTPSKLLQFDPGMSTKMWNIAITYDGLEEDDEVFEVILNSPVNAVLGTQTKAAVKILDSKGGRCHPSNSFNQSKHSTWGKGPWHPLPSGSSSLTTSGSPLLERPPPSFTSGDALQGFGLTDLTQRKTMTQGNGKSVLPSSVCRNGTDTIYNYHGIVSLKLEGDRFSAHKRKAKISIVSQPQRTIKVAELPLADKVESTTDLHFLRQGLRPLFPKNCSVDLKGLFHFEESTHRLYQCDGISWKAWSPQTKGLEDRSCPGGWLLHSGYCHILVTRQKGTWTTATRACREQHQGDLVTVLSRRHMQWLWAMSGRKPFWIGLKNQPRTGHWEWIGGEPVAFTNWRRGAPLHPKPGKNCALVQKRGQWQTKNCSKGKAHNFVCSRKL
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:15345741}.
uniprot
proteins
function
FUNCTION: Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development. {ECO:0000269|PubMed:15345741}.
uniprot
proteins
mass_dalton
244544
uniprot
proteins
mutagenesis
MUTAGEN 207; /note="D->E: Impairs cell adhesion ability in vitro."; /evidence="ECO:0000269|PubMed:15878328
uniprot
proteins
protein_family
FRAS1 family
uniprot
proteins
pubmed
15345741
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15878328
uniprot
proteins
pubmed
16141072
uniprot
proteins
sequence_length
2191
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000269|PubMed:15878328}. Note=Localizes at the basement membrane zone of embryonic epidermis and hair follicles. {ECO:0000269|PubMed:15878328}.
uniprot
proteins