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

Gene ID: 158326, updated on 22-Aug-2021

Summary

Official Symbol
FREM1provided by HGNC
Official Full Name
FRAS1 related extracellular matrix 1provided by HGNC
Primary source
HGNC:HGNC:23399
See related
Ensembl:ENSG00000164946 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]
Expression
Broad expression in endometrium (RPKM 5.0), kidney (RPKM 2.2) and 14 other tissues See more
Orthologs
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Genomic context

See FREM1 in Genome Data Viewer
Location:
9p22.3
Exon count:
48
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (14734666..14911653, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (14737150..14910993, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene zinc finger DHHC-type palmitoyltransferase 21 Neighboring gene cell division cycle associated 4 pseudogene 1 Neighboring gene cerberus 1, DAN family BMP antagonist Neighboring gene uncharacterized LOC105375979 Neighboring gene RNA, U6 small nuclear 1260, pseudogene Neighboring gene lactate dehydrogenase A pseudogene 4 Neighboring gene uncharacterized LOC105375980

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
BNAR syndrome Compare labs
Identification of 15 loci influencing height in a Korean population.
GeneReviews: Not available
Oculotrichoanal 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25461

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell communication IEA
Inferred from Electronic Annotation
more info
 
involved_in cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in craniofacial suture morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in basement membrane IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
FRAS1-related extracellular matrix protein 1
Names
extracellular matrix protein QBRICK

NCBI Reference Sequences (RefSeq)

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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_001177704.3NP_001171175.1  FRAS1-related extracellular matrix protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001171175.1

    Status: REVIEWED

    Source sequence(s)
    AL390732, AL512643
    Consensus CDS
    CCDS55293.1
    UniProtKB/Swiss-Prot
    Q5H8C1
    Related
    ENSP00000370278.1, ENST00000380894.5
    Conserved Domains (3) summary
    smart00034
    Location:589711
    CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)
    pfam16184
    Location:25134
    Cadherin_3; Cadherin-like
    cl02522
    Location:282365
    Calx-beta; Calx-beta domain
  2. NM_001370058.2NP_001356987.1  FRAS1-related extracellular matrix protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL390732, AL512643
    Conserved Domains (2) summary
    pfam16184
    Location:25134
    Cadherin_3; Cadherin-like
    cl02522
    Location:282340
    Calx-beta; Calx-beta domain
  3. NM_001370060.1NP_001356989.1  FRAS1-related extracellular matrix protein 1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AL354672, AL512643
    Conserved Domains (1) summary
    pfam16184
    Location:324400
    Cadherin_3; Cadherin-like
  4. NM_001370061.2NP_001356990.1  FRAS1-related extracellular matrix protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL390732, AL512643
    Conserved Domains (3) summary
    smart00034
    Location:589711
    CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)
    pfam16184
    Location:25134
    Cadherin_3; Cadherin-like
    cl02522
    Location:282365
    Calx-beta; Calx-beta domain
  5. NM_001370063.1NP_001356992.1  FRAS1-related extracellular matrix protein 1 isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variant 7, encodes isoform 5.
    Source sequence(s)
    AL354672, AL512643
    Conserved Domains (1) summary
    pfam16184
    Location:315391
    Cadherin_3; Cadherin-like
  6. NM_001370065.1NP_001356994.1  FRAS1-related extracellular matrix protein 1 isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 6, encodes isoform 5.
    Source sequence(s)
    AL354672, AL512643
    Conserved Domains (1) summary
    pfam16184
    Location:315391
    Cadherin_3; Cadherin-like
  7. NM_001379081.2NP_001366010.1  FRAS1-related extracellular matrix protein 1 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL354672, AL390732, AL512643
    Related
    ENSP00000370262.3, ENST00000380880.4
    Conserved Domains (3) summary
    smart00034
    Location:20532175
    CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)
    pfam16184
    Location:14891598
    Cadherin_3; Cadherin-like
    cl02522
    Location:17461829
    Calx-beta; Calx-beta domain
  8. NM_144966.7NP_659403.4  FRAS1-related extracellular matrix protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_659403.4

    Status: REVIEWED

    Source sequence(s)
    AL354672, AL390732, AL512643
    Consensus CDS
    CCDS47952.1
    UniProtKB/Swiss-Prot
    Q5H8C1
    Conserved Domains (3) summary
    smart00034
    Location:20532175
    CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)
    pfam16184
    Location:14891598
    Cadherin_3; Cadherin-like
    cl02522
    Location:17461829
    Calx-beta; Calx-beta domain

RNA

  1. NR_163238.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL354672, AL390732, AL512643
    Related
    ENST00000380875.7
  2. NR_163239.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL354672, AL390732, AL512643
  3. NR_163240.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL354672, AL512643
  4. NR_163241.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL354672, AL512643
  5. NR_163242.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL390732, AL512643

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    14734666..14911653 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014325.2XP_016869814.1  FRAS1-related extracellular matrix protein 1 isoform X4

  2. XM_017014323.1XP_016869812.1  FRAS1-related extracellular matrix protein 1 isoform X1

  3. XM_017014317.1XP_016869806.1  FRAS1-related extracellular matrix protein 1 isoform X1

  4. XM_017014321.2XP_016869810.1  FRAS1-related extracellular matrix protein 1 isoform X1

  5. XM_017014320.2XP_016869809.1  FRAS1-related extracellular matrix protein 1 isoform X1

  6. XM_017014319.2XP_016869808.1  FRAS1-related extracellular matrix protein 1 isoform X1

  7. XM_017014322.1XP_016869811.1  FRAS1-related extracellular matrix protein 1 isoform X1

  8. XM_017014324.2XP_016869813.1  FRAS1-related extracellular matrix protein 1 isoform X3

  9. XM_017014316.2XP_016869805.1  FRAS1-related extracellular matrix protein 1 isoform X1

  10. XM_017014326.1XP_016869815.1  FRAS1-related extracellular matrix protein 1 isoform X5

  11. XM_017014327.2XP_016869816.1  FRAS1-related extracellular matrix protein 1 isoform X6

  12. XM_006716729.3XP_006716792.1  FRAS1-related extracellular matrix protein 1 isoform X11

    See identical proteins and their annotated locations for XP_006716792.1

    UniProtKB/Swiss-Prot
    Q5H8C1
    Conserved Domains (3) summary
    smart00034
    Location:589711
    CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)
    pfam16184
    Location:25134
    Cadherin_3; Cadherin-like
    cl02522
    Location:282365
    Calx-beta; Calx-beta domain
  13. XM_005251384.4XP_005251441.1  FRAS1-related extracellular matrix protein 1 isoform X11

    See identical proteins and their annotated locations for XP_005251441.1

    UniProtKB/Swiss-Prot
    Q5H8C1
    Conserved Domains (3) summary
    smart00034
    Location:589711
    CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)
    pfam16184
    Location:25134
    Cadherin_3; Cadherin-like
    cl02522
    Location:282365
    Calx-beta; Calx-beta domain
  14. XM_011517758.2XP_011516060.1  FRAS1-related extracellular matrix protein 1 isoform X10

    Conserved Domains (3) summary
    smart00034
    Location:601723
    CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)
    pfam16184
    Location:115273
    Cadherin_3; Cadherin-like
    cl02522
    Location:294377
    Calx-beta; Calx-beta domain
  15. XM_017014329.2XP_016869818.1  FRAS1-related extracellular matrix protein 1 isoform X8

  16. XM_017014328.2XP_016869817.1  FRAS1-related extracellular matrix protein 1 isoform X7

  17. XM_017014330.2XP_016869819.1  FRAS1-related extracellular matrix protein 1 isoform X9

RNA

  1. XR_001746195.2 RNA Sequence

  2. XR_001746194.2 RNA Sequence

  3. XR_001746197.2 RNA Sequence

  4. XR_001746196.2 RNA Sequence

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