Sequence in raw or FASTA format:
FREM1 FRAS1 related extracellular matrix 1 [Homo sapiens (human)]
|Entrez Gene ID||158326|
|Full Name||FRAS1 related extracellular matrix 1|
|Synonyms||BNAR, C9orf143, C9orf145, C9orf154, MOTA, TILRR, TRIGNO2|
|General protein information|
|Organism||Homo sapiens (human)|
|Summary||This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011].|
Bifid nose with or without anorectal and renal anomalies, 608980 (3)
|Homo sapiens (human)||FREM1||NP_659403.4|
|Pan troglodytes (chimpanzee)||FREM1||XP_520492.3|
|Macaca mulatta (Rhesus monkey)||FREM1||XP_001110764.1|
|Canis lupus familiaris (dog)||FREM1||XP_005626693.1|
|Bos taurus (cattle)||FREM1||NP_001179924.1|
|Mus musculus (house mouse)||Frem1||NP_001185740.1|
|Rattus norvegicus (Norway rat)||Frem1||NP_001178686.1|
|Gallus gallus (chicken)||FREM1||XP_424932.2|
|Danio rerio (zebrafish)||frem1a||NP_001177237.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||LOC100488523||XP_002939136.2|
|GO:0097094||craniofacial suture morphogenesis||IMP|
|GO:0016021||integral component of membrane||IEA|
|GO:0046872||metal ion binding||IEA|
What is the normal function of the FREM1 gene?
The FREM1 gene provides instructions for making a protein that is involved in the formation and organization of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues.
The FREM1 protein is one of a group of proteins, including proteins called FRAS1 and FREM2, that interact during embryonic development as components of basement membranes. Basement membranes help anchor layers of cells lining the surfaces and cavities of the body (epithelial cells) to other embryonic tissues, including those that give rise to connective tissues (such as skin and cartilage) and the kidneys.
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