FREM1

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]

Description

FRAS1 related extracellular matrix 1

Tissue specificity

Tissue enhanced (endometrium , epididymis)

Predicted location

Intracellular, Secreted to extracellular matrix

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Kim et al 2014)

Chromosome

9 (14737152 - 14910995)

Ensembl ID

ENSG00000164946  (ver. 103.38)

Orthologs

Mouse Frem1: ENSMUSG00000059049

UniProt

Q5H8C1

neXtProt

NX_Q5H8C1

Human splice variants
Mouse splice variants

Protein structure