Homo sapiens Gene: FREM1

Summary
InnateDB Gene IDBG-50859.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol FREM1
Gene Name FRAS1 related extracellular matrix 1
Synonyms BNAR; C9orf143; C9orf145; C9orf154; MOTA; TILRR; TRIGNO2
Species Homo sapiens
Ensembl Gene ENSG00000164946
Encoded Proteins
IDBP-50861 FRAS1 related extracellular matrix 1
IDBP-50867 FRAS1 related extracellular matrix 1
IDBP-50869 FRAS1 related extracellular matrix 1
IDBP-50871 FRAS1 related extracellular matrix 1
IDBP-363776 FRAS1 related extracellular matrix 1
IDBP-363784 FRAS1 related extracellular matrix 1
InnateDB Annotation
Summary
PMID 22262840 FREM1 selectively amplifies NF-kB responses, such as cell survival and inflammatory responses, through changes in receptor conformation and adapter protein recruitment.
InnateDB Annotation from Orthologs
Summary
PMID 22262840 [Mus musculus] Frem1 selectively amplifies NF-kB responses, such as cell survival and inflammatory responses, through changes in receptor conformation and adapter protein recruitment. (Demonstrated in human)
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 9: 14734664-14910993
Strand Reverse strand
Band p22.3
Transcripts
ENST00000380894  ENSP00000370278
ENST00000380881  ENSP00000370263
ENST00000380880  ENSP00000370262
ENST00000380875  ENSP00000370257
ENST00000422223  ENSP00000412940
ENST00000427623  ENSP00000412597
ENST00000486223 
ENST00000485068 
ENST00000466679 
ENST00000497634 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein‑Protein  2
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0005509 calcium ion binding
GO:0030246 carbohydrate binding
GO:0046872 metal ion binding
Biological Process
GO:0007154 cell communication
GO:0007160 cell-matrix adhesion
GO:0045087 innate immune response (InnateDB)
GO:0097094 craniofacial suture morphogenesis
Cellular Component
GO:0005604 basement membrane
GO:0016020 membrane
GO:0016021 integral to membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000059049 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000020141 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q5H8C1 
TrEMBL B7ZBQ9 B7ZBX4 C9JT55 F8WE85
UniProt Splice Variant
Entrez Gene 158326 
UniGene Hs.50850
RefSeq NM_001177704  NM_144966 
HUGO 23399 
OMIM 608944
CCDS CCDS47952  CCDS55293 
HPRD 09865
IMGT
EMBL AB160987 AK058190 AL354672 AL390732 AL512643 BC031064 BX641104
GenPept AAH31064  BAB71709  BAD89015  CAE46048  CAH71826  CAH73848  CAX14920  CAX15052 
ImmGen FREM1 (murine) 
RNA Seq Atlas 158326