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

    Gene ID: 158326, updated on 6-Jun-2024

    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; AllianceGenome:HGNC:23399
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FREM1 in Genome Data Viewer
    Location:
    9p22.3
    Exon count:
    46
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (14737152..14910995, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (14746865..14921449, complement)
    105.20220307 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:14597299-14597830 Neighboring gene zinc finger DHHC-type palmitoyltransferase 21 Neighboring gene cell division cycle associated 4 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19775 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19776 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:14693435-14693935 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:14721879-14722818 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:14722819-14723756 Neighboring gene cerberus 1, DAN family BMP antagonist Neighboring gene uncharacterized LOC105375979 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:14812530-14813729 Neighboring gene RNA, U6 small nuclear 1260, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:14907200-14907740 Neighboring gene NANOG hESC enhancer GRCh37_chr9:14908690-14909191 Neighboring gene uncharacterized LOC124902122 Neighboring gene lactate dehydrogenase A pseudogene 4

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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
      4809..178085
      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 (1) summary
      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
      Consensus CDS
      CCDS55293.1
      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
      Consensus CDS
      CCDS47952.1
      UniProtKB/Swiss-Prot
      B7ZBX4, Q5H8C1, Q5VV00, Q5VV01, Q6MZI4, Q8NEG9, Q96LI3
      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
      B7ZBX4, Q5H8C1, Q5VV00, Q5VV01, Q6MZI4, Q8NEG9, Q96LI3
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      14737152..14910995 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422844.1XP_047278800.1  FRAS1-related extracellular matrix protein 1 isoform X1

    2. XM_047422847.1XP_047278803.1  FRAS1-related extracellular matrix protein 1 isoform X2

      UniProtKB/Swiss-Prot
      B7ZBX4, Q5H8C1, Q5VV00, Q5VV01, Q6MZI4, Q8NEG9, Q96LI3
    3. XM_017014322.2XP_016869811.1  FRAS1-related extracellular matrix protein 1 isoform X1

    4. XM_047422846.1XP_047278802.1  FRAS1-related extracellular matrix protein 1 isoform X2

      UniProtKB/Swiss-Prot
      B7ZBX4, Q5H8C1, Q5VV00, Q5VV01, Q6MZI4, Q8NEG9, Q96LI3
    5. XM_017014321.3XP_016869810.1  FRAS1-related extracellular matrix protein 1 isoform X1

    6. XM_017014324.3XP_016869813.1  FRAS1-related extracellular matrix protein 1 isoform X3

    7. XM_017014325.3XP_016869814.1  FRAS1-related extracellular matrix protein 1 isoform X4

    8. XM_017014316.3XP_016869805.1  FRAS1-related extracellular matrix protein 1 isoform X1

    9. XM_047422848.1XP_047278804.1  FRAS1-related extracellular matrix protein 1 isoform X2

      UniProtKB/Swiss-Prot
      B7ZBX4, Q5H8C1, Q5VV00, Q5VV01, Q6MZI4, Q8NEG9, Q96LI3
    10. XM_017014320.3XP_016869809.1  FRAS1-related extracellular matrix protein 1 isoform X1

    11. XM_017014319.3XP_016869808.1  FRAS1-related extracellular matrix protein 1 isoform X1

    12. XM_047422845.1XP_047278801.1  FRAS1-related extracellular matrix protein 1 isoform X1

    13. XM_017014326.2XP_016869815.1  FRAS1-related extracellular matrix protein 1 isoform X5

    14. XM_017014327.3XP_016869816.1  FRAS1-related extracellular matrix protein 1 isoform X6

    15. XM_006716729.4XP_006716792.1  FRAS1-related extracellular matrix protein 1 isoform X19

      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
    16. XM_047422859.1XP_047278815.1  FRAS1-related extracellular matrix protein 1 isoform X20

    17. XM_011517758.3XP_011516060.1  FRAS1-related extracellular matrix protein 1 isoform X18

      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
    18. XM_017014329.3XP_016869818.1  FRAS1-related extracellular matrix protein 1 isoform X8

    19. XM_017014328.3XP_016869817.1  FRAS1-related extracellular matrix protein 1 isoform X7

    20. XM_047422852.1XP_047278808.1  FRAS1-related extracellular matrix protein 1 isoform X12

      UniProtKB/TrEMBL
      F8WE85
    21. XM_047422851.1XP_047278807.1  FRAS1-related extracellular matrix protein 1 isoform X11

      UniProtKB/TrEMBL
      F8WE85
    22. XM_047422850.1XP_047278806.1  FRAS1-related extracellular matrix protein 1 isoform X10

      UniProtKB/TrEMBL
      F8WE85
    23. XM_047422849.1XP_047278805.1  FRAS1-related extracellular matrix protein 1 isoform X9

      UniProtKB/TrEMBL
      F8WE85
    24. XM_047422854.1XP_047278810.1  FRAS1-related extracellular matrix protein 1 isoform X14

      UniProtKB/TrEMBL
      F8WE85
    25. XM_047422853.1XP_047278809.1  FRAS1-related extracellular matrix protein 1 isoform X13

      UniProtKB/TrEMBL
      F8WE85
    26. XM_047422858.1XP_047278814.1  FRAS1-related extracellular matrix protein 1 isoform X17

      UniProtKB/TrEMBL
      F8WE85
    27. XM_047422857.1XP_047278813.1  FRAS1-related extracellular matrix protein 1 isoform X17

      UniProtKB/TrEMBL
      F8WE85
    28. XM_047422856.1XP_047278812.1  FRAS1-related extracellular matrix protein 1 isoform X17

      UniProtKB/TrEMBL
      F8WE85
    29. XM_047422855.1XP_047278811.1  FRAS1-related extracellular matrix protein 1 isoform X15

      UniProtKB/TrEMBL
      F8WE85
    30. XM_017014330.3XP_016869819.1  FRAS1-related extracellular matrix protein 1 isoform X16

      UniProtKB/TrEMBL
      F8WE85

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      14746865..14921449 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362116.1XP_054218091.1  FRAS1-related extracellular matrix protein 1 isoform X1

    2. XM_054362110.1XP_054218085.1  FRAS1-related extracellular matrix protein 1 isoform X1

    3. XM_054362111.1XP_054218086.1  FRAS1-related extracellular matrix protein 1 isoform X1

    4. XM_054362115.1XP_054218090.1  FRAS1-related extracellular matrix protein 1 isoform X1

    5. XM_054362118.1XP_054218093.1  FRAS1-related extracellular matrix protein 1 isoform X2

    6. XM_054362117.1XP_054218092.1  FRAS1-related extracellular matrix protein 1 isoform X2

    7. XM_054362114.1XP_054218089.1  FRAS1-related extracellular matrix protein 1 isoform X1

    8. XM_054362120.1XP_054218095.1  FRAS1-related extracellular matrix protein 1 isoform X3

    9. XM_054362121.1XP_054218096.1  FRAS1-related extracellular matrix protein 1 isoform X4

    10. XM_054362109.1XP_054218084.1  FRAS1-related extracellular matrix protein 1 isoform X1

    11. XM_054362119.1XP_054218094.1  FRAS1-related extracellular matrix protein 1 isoform X2

    12. XM_054362113.1XP_054218088.1  FRAS1-related extracellular matrix protein 1 isoform X1

    13. XM_054362112.1XP_054218087.1  FRAS1-related extracellular matrix protein 1 isoform X1

    14. XM_054362122.1XP_054218097.1  FRAS1-related extracellular matrix protein 1 isoform X5

    15. XM_054362123.1XP_054218098.1  FRAS1-related extracellular matrix protein 1 isoform X6

    16. XM_054362138.1XP_054218113.1  FRAS1-related extracellular matrix protein 1 isoform X19

    17. XM_054362139.1XP_054218114.1  FRAS1-related extracellular matrix protein 1 isoform X20

    18. XM_054362137.1XP_054218112.1  FRAS1-related extracellular matrix protein 1 isoform X18

    19. XM_054362125.1XP_054218100.1  FRAS1-related extracellular matrix protein 1 isoform X8

    20. XM_054362124.1XP_054218099.1  FRAS1-related extracellular matrix protein 1 isoform X7

    21. XM_054362129.1XP_054218104.1  FRAS1-related extracellular matrix protein 1 isoform X12

      UniProtKB/TrEMBL
      F8WE85
    22. XM_054362128.1XP_054218103.1  FRAS1-related extracellular matrix protein 1 isoform X11

      UniProtKB/TrEMBL
      F8WE85
    23. XM_054362127.1XP_054218102.1  FRAS1-related extracellular matrix protein 1 isoform X10

      UniProtKB/TrEMBL
      F8WE85
    24. XM_054362126.1XP_054218101.1  FRAS1-related extracellular matrix protein 1 isoform X9

      UniProtKB/TrEMBL
      F8WE85
    25. XM_054362131.1XP_054218106.1  FRAS1-related extracellular matrix protein 1 isoform X14

      UniProtKB/TrEMBL
      F8WE85
    26. XM_054362130.1XP_054218105.1  FRAS1-related extracellular matrix protein 1 isoform X13

      UniProtKB/TrEMBL
      F8WE85
    27. XM_054362136.1XP_054218111.1  FRAS1-related extracellular matrix protein 1 isoform X17

      UniProtKB/TrEMBL
      F8WE85
    28. XM_054362135.1XP_054218110.1  FRAS1-related extracellular matrix protein 1 isoform X17

      UniProtKB/TrEMBL
      F8WE85
    29. XM_054362134.1XP_054218109.1  FRAS1-related extracellular matrix protein 1 isoform X17

      UniProtKB/TrEMBL
      F8WE85
    30. XM_054362132.1XP_054218107.1  FRAS1-related extracellular matrix protein 1 isoform X15

      UniProtKB/TrEMBL
      F8WE85
    31. XM_054362133.1XP_054218108.1  FRAS1-related extracellular matrix protein 1 isoform X16

      UniProtKB/TrEMBL
      F8WE85