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FREM1 FRAS1 related extracellular matrix 1 [ Homo sapiens (human) ]

Gene ID: 158326, updated on 10-Apr-2015
Official Symbol
FREM1provided by HGNC
Official Full Name
FRAS1 related extracellular matrix 1provided by HGNC
Primary source
HGNC:HGNC:23399
See related
Ensembl:ENSG00000164946; HPRD:09865; MIM:608944
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BNAR; MOTA; TILRR; TRIGNO2; C9orf143; C9orf145; C9orf154
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]
Orthologs
See FREM1 in MapViewer
Location:
9p22.3
Exon count:
46
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 9 NC_000009.12 (14734666..14911647, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (14734664..14910993, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene zinc finger, DHHC-type containing 21 Neighboring gene uncharacterized LOC105375978 Neighboring gene cell division cycle associated 4 pseudogene 1 Neighboring gene cerberus 1, DAN family BMP antagonist Neighboring gene uncharacterized LOC105375979 Neighboring gene lactate dehydrogenase A pseudogene 4 Neighboring gene uncharacterized LOC105375980

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Bifid nose with or without anorectal and renal anomalies
MedGen: C2750433 OMIM: 608980 GeneReviews: Not available
Compare labs
Marles Greenberg Persaud syndrome Compare labs
Trigonocephaly 2
MedGen: C3280974 OMIM: 614485 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2013-06-06)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2013-06-06)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Identification of 15 loci influencing height in a Korean population.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ25461

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell communication IEA
Inferred from Electronic Annotation
more info
 
cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
 
craniofacial suture morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
basement membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
FRAS1-related extracellular matrix protein 1
Names
FRAS1-related extracellular matrix protein 1
extracellular matrix protein QBRICK

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_017005.2 RefSeqGene

    Range
    4242..180571
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001177704.1NP_001171175.1  FRAS1-related extracellular matrix protein 1 isoform 2

    See proteins identical to NP_001171175.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks many of the 5' coding exons found in variant 1 and has a different 5' UTR and 5' CDS. The resulting protein, (isoform 2, also known as Toll-like/interleukin-1 receptor regulator, TILRR) has a different N-terminus and is shorter than isoform 1. This isoform has been shown to associate with the extracellular domain of interleukin-1 receptors and magnify inflammatory responses regulated by nuclear factor kappa B.
    Source sequence(s)
    AB160987, AL390732, AL512643, BC031064
    Consensus CDS
    CCDS55293.1
    UniProtKB/Swiss-Prot
    Q5H8C1
    Conserved Domains (2) summary
    cd00037
    Location:599713
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    cl02522
    Location:282365
    Calx-beta; Calx-beta domain
  2. NM_144966.5NP_659403.4  FRAS1-related extracellular matrix protein 1 isoform 1 precursor

    See proteins identical to NP_659403.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB160987, AL354672, AL390732, AL512643, BX537574, DN992860
    Consensus CDS
    CCDS47952.1
    UniProtKB/Swiss-Prot
    Q5H8C1
    Related
    ENSP00000412940, ENST00000422223
    Conserved Domains (2) summary
    cd00037
    Location:20632177
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    cl02522
    Location:17461829
    Calx-beta; Calx-beta domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p2 Primary Assembly

    Range
    14734666..14911647
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517750.1XP_011516052.1  

    See proteins identical to XP_011516052.1

    Conserved Domains (2) summary
    cd00037
    Location:20632177
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    cl02522
    Location:17461829
    Calx-beta; Calx-beta domain
  2. XM_011517751.1XP_011516053.1  

    See proteins identical to XP_011516053.1

    Conserved Domains (2) summary
    cd00037
    Location:20632177
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    cl02522
    Location:17461829
    Calx-beta; Calx-beta domain
  3. XM_011517749.1XP_011516051.1  

    See proteins identical to XP_011516051.1

    Conserved Domains (2) summary
    cd00037
    Location:20632177
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    cl02522
    Location:17461829
    Calx-beta; Calx-beta domain
  4. XM_011517752.1XP_011516054.1  

    Conserved Domains (1) summary
    cd00037
    Location:20132127
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
  5. XM_011517753.1XP_011516055.1  

    Conserved Domains (1) summary
    cl02522
    Location:17461829
    Calx-beta; Calx-beta domain
  6. XM_005251382.2XP_005251439.1  

    See proteins identical to XP_005251439.1

    UniProtKB/Swiss-Prot
    Q5H8C1
    Conserved Domains (2) summary
    cd00037
    Location:20632177
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    cl02522
    Location:17461829
    Calx-beta; Calx-beta domain
  7. XM_011517748.1XP_011516050.1  

    See proteins identical to XP_011516050.1

    Conserved Domains (2) summary
    cd00037
    Location:20632177
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    cl02522
    Location:17461829
    Calx-beta; Calx-beta domain
  8. XM_006716729.2XP_006716792.1  

    See proteins identical to XP_006716792.1

    UniProtKB/Swiss-Prot
    Q5H8C1
    Conserved Domains (2) summary
    cd00037
    Location:599713
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    cl02522
    Location:282365
    Calx-beta; Calx-beta domain
  9. XM_005251384.3XP_005251441.1  

    See proteins identical to XP_005251441.1

    UniProtKB/Swiss-Prot
    Q5H8C1
    Conserved Domains (2) summary
    cd00037
    Location:599713
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    cl02522
    Location:282365
    Calx-beta; Calx-beta domain
  10. XM_011517758.1XP_011516060.1  

    Conserved Domains (2) summary
    cd00037
    Location:611725
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    cl02522
    Location:294377
    Calx-beta; Calx-beta domain
  11. XM_011517755.1XP_011516057.1  

  12. XM_011517754.1XP_011516056.1  

  13. XM_006716726.2XP_006716789.1  

  14. XM_011517756.1XP_011516058.1  

  15. XM_006716728.2XP_006716791.1  

  16. XM_011517757.1XP_011516059.1  

RNA

  1. XR_929188.1 RNA Sequence

  2. XR_929190.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    14734708..14910773
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)