FREM1

GENE INFORMATION

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Gene name

FREM1 (HGNC Symbol)

Synonyms

C9orf143, C9orf145, C9orf154, DKFZp686M16108, FLJ25461, TILRR

Description

FRAS1 related extracellular matrix 1 (HGNC Symbol)

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]

Chromosome

9

Cytoband

p22.3

Chromosome location (bp)

14734666 - 14910995

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000164946 (version 78.38)

Entrez gene

158326

UniProt

Q5H8C1 (UniProt - Evidence at protein level)

neXtProt

NX_Q5H8C1

Antibodypedia

FREM1 antibodies
 

PROTEIN VIEW

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FREM1-001
 
FREM1-002
 
FREM1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

FREM1-001 ENSP00000370262
ENST00000380880
Q5H8C1
Show all »
Show » Show » 2179 244.2 Yes 0
FREM1-002 ENSP00000370278
ENST00000380894
Q5H8C1
Show all »
Show » Show » 715 80.2 No 0
FREM1-201 ENSP00000412940
ENST00000422223
Q5H8C1
Show all »
Show » Show » 2179 244.2 Yes 0