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FBRSL1 Gene

protein-coding   GIFtS: 43
GCID: GC12P133067

Fibrosin-Like 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Fibrosin-Like 11 2     Fibrosin-1-Like Protein2
AUTS2-Like Protein2 3     AUTS2L3
HBV X-Transactivated Gene 9 Protein2 3     KIAA15453
HBV XAg-Transactivated Protein 92 3     XTP93

External Ids:    HGNC: 293081   Entrez Gene: 576662   Ensembl: ENSG000001127877   UniProtKB: Q9HCM73   

Export aliases for FBRSL1 gene to outside databases

Previous GC identifers: GC12P131578 GC12P129866


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FBRSL1 Gene:
FBRSL1 (fibrosin-like 1) is a protein-coding gene. An important paralog of this gene is FBRS.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_024477.15  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FBRSL1 gene promoter:
         COUP-TF1   RFX1   p300   GCNF   HNF-4alpha2   HNF-4alpha1   RORalpha1   COUP-TF   GCNF-1   GCNF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for FBRSL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBRSL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.33   Ensembl cytogenetic band:  12q24.33   HGNC cytogenetic band: 12q24.33

FBRSL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBRSL1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P133067:  view genomic region     (about GC identifiers)

Start:
133,066,137 bp from pter      End:
133,161,774 bp from pter
Size:
95,638 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FBSL_HUMAN, Q9HCM7 (See protein sequence)
Recommended Name: Fibrosin-1-like protein  
Size: 1045 amino acids; 110907 Da
Sequence caution: Sequence=EAW54843.1; Type=Erroneous gene model prediction;
Secondary accessions: Q86XQ1

Explore the universe of human proteins at neXtProt for FBRSL1: NX_Q9HCM7

Explore proteomics data for FBRSL1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys484
  • Modification sites at PhosphoSitePlus

  • See FBRSL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001136113.1  
    ENSEMBL proteins: 
     ENSP00000396160   ENSP00000261673  

    FBRSL1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for FBRSL1

     
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    antibodies-online peptides for FBRSL1

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    Abcam antibodies for FBRSL1
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    Search ThermoFisher Antibodies for FBRSL1
    antibodies-online antibodies for FBRSL1 (10 products) 

    FBRSL1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for FBRSL1
    Cloud-Clone Corp. CLIAs for FBRSL1
    Search eBioscience for ELISAs for FBRSL1 
    antibodies-online kits for FBRSL1 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR023246 AUTS2

    Graphical View of Domain Structure for InterPro Entry Q9HCM7

    ProtoNet protein and cluster: Q9HCM7

    UniProtKB/Swiss-Prot: FBSL_HUMAN, Q9HCM7
    Similarity: Belongs to the AUTS2 family


    Find genes that share domains with FBRSL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with FBRSL1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FBRSL1

    miRNA
    Products:
        
    miRTarBase miRNAs that target FBRSL1:
    hsa-mir-423-3p (MIRT042565)

    Block miRNA regulation of human, mouse, rat FBRSL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FBRSL1 (see all 38):
    hsa-miR-142-5p hsa-miR-323-3p hsa-miR-3607-3p hsa-miR-136 hsa-miR-200a hsa-miR-128 hsa-let-7a-2* hsa-miR-624*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for FBRSL1
    Predesigned siRNA for gene silencing in human, mouse, rat FBRSL1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for FBRSL1

    Clone
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    OriGene clones in human, mouse for FBRSL1 (see all 8)
    OriGene ORF clones in mouse, rat for FBRSL1
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    GenScript: all cDNA clones in your preferred vector: FBRSL1 (NM_001142641)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FBRSL1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FBRSL1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    plasma membrane1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FBRSL1
    Interactions:

        Search GeneGlobe Interaction Network for FBRSL1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for FBRSL1 (ENSP000003961604) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCGF3ENSP000003547244STRING: ENSP00000354724
    PCGF5ENSP000003375004STRING: ENSP00000337500
    RNF2ENSP000003564804STRING: ENSP00000356480
    RYBPENSP000004194944STRING: ENSP00000419494
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FBRSL1 (FBSL)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FBRSL1 gene: 
    NM_001142641.1  

    Unigene Clusters for FBRSL1:

    Fibrosin-like 1
    Hs.411138  [show with all ESTs], Hs.656668  [show with all ESTs]
    Unigene Representative Sequences: NM_001142641, BC013284
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000434748(uc001ukf.3) ENST00000542061 ENST00000539264 ENST00000543360
    ENST00000543453 ENST00000536075 ENST00000542306 ENST00000537804 ENST00000261673

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat FBRSL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FBRSL1 (see all 38):
    hsa-miR-142-5p hsa-miR-323-3p hsa-miR-3607-3p hsa-miR-136 hsa-miR-200a hsa-miR-128 hsa-let-7a-2* hsa-miR-624*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for FBRSL1
    Predesigned siRNA for gene silencing in human, mouse, rat FBRSL1
    Clone
    Products:
         
    OriGene clones in human, mouse for FBRSL1 (see all 8)
    OriGene ORF clones in mouse, rat for FBRSL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FBRSL1 (NM_001142641)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FBRSL1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FBRSL1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for FBRSL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FBRSL1
      QuantiTect SYBR Green Assays in human, mouse, rat FBRSL1
      QuantiFast Probe-based Assays in human, mouse, rat FBRSL1

    Additional mRNA sequence: BC013284.2 

    12 DOTS entries:

    DT.456128  DT.40189617  DT.100755339  DT.91669962  DT.102827457  DT.121175784  DT.439423  DT.121175758 
    DT.442812  DT.75101599  DT.91672715  DT.121175799 

    Selected AceView cDNA sequences (see all 162):

    BM823924 AW291805 AI818948 F13464 AI825140 AW961012 CR596926 AI017469 
    BU738867 AB046765 BQ086360 AI475804 AW418684 AI263682 BM684376 AI818967 
    BQ086164 BQ440423 AI766674 CF890849 BM757167 AA385753 BC013284 AF490258 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for FBRSL1 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
    SP1:                                                                                                      
    SP2:                                                                                                      
    SP3:                                                                                                      
    SP4:                                                                                                      
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for FBRSL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FBRSL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGACCCCAC
    FBRSL1 Expression
    About this image

    FBRSL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FBRSL1 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.411138 Hs.656668
        Custom PCR Arrays for FBRSL1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBRSL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for FBRSL1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbrsl11 , 5 fibrosin-like 11, 5 79.36(n)1
    75.84(a)1
      5 (53.51 cM)5
    3816681  NM_001142642.11  NP_001136114.11 
     1103617545 
    chicken
    (Gallus gallus)
    Aves FBRSL16
    fibrosin-like 1
    43(a)
    1 ↔ 1
    15(1547558-1855522)
    lizard
    (Anolis carolinensis)
    Reptilia FBRSL16
    fibrosin-like 1
    40(a)
    1 ↔ 1
    GL343364.1(355783-779424)
    zebrafish
    (Danio rerio)
    Actinopterygii fbrsl16
    fibrosin-like 1
    39(a)
    1 ↔ 1
    5(19504794-19532326) ENSDARG00000058232


    ENSEMBL Gene Tree for FBRSL1 (if available)
    TreeFam Gene Tree for FBRSL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FBRSL1 gene
    FBRS2  AUTS22  

    Find genes that share paralogs with FBRSL1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for FBRSL1
    PGOHUM00000238170


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FBRSL1 (see all 2124)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs124236641,2
    C,F,H--129850392(+) TCTGGG/AATGCT 1 -- us2k120Minor allele frequency- A:0.09NS EA NA 2274
    rs1856639181,2
    --129850536(+) GGAGTC/GCTGTT 1 -- us2k10--------
    rs1436661531,2
    --129850551(+) CACCCC/TAGACC 1 -- us2k10--------
    rs21417761,2
    C,F,A,H--129850563(+) CACACG/ACACTG 1 -- us2k124Minor allele frequency- A:0.23NS EA NA WA CSA 2350
    rs1118691871,2
    F--129850590(+) CCAGCC/TCTGGC 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1406586961,2
    --129850600(+) CCCCTA/GGGGCA 1 -- us2k10--------
    rs1148901711,2
    F--129850652(+) CTCTCC/TGCCTG 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs116149141,2
    C,F,A,H--129850792(+) CCCGCC/TCCCTT 1 -- us2k17Minor allele frequency- T:0.23NA WA EA 366
    rs1426925351,2
    --129850858(+) ATCTGC/TACATT 1 -- us2k10--------
    rs123186291,2
    C,F--129850896(+) GTCCCC/TGCTTG 1 -- us2k15Minor allele frequency- T:0.19NA WA 244

    HapMap Linkage Disequilibrium report for FBRSL1 (133066137 - 133161774 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FBRSL1 (see all 52):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2747004CNV Deletion23290073
    esv2747015CNV Deletion23290073
    esv2747006CNV Deletion23290073
    esv1553523CNV Deletion17803354
    esv2678329CNV Deletion23128226
    esv2747003CNV Deletion23290073
    dgv239e201CNV Deletion23290073
    esv991918CNV Deletion20482838
    esv2040735CNV Deletion18987734
    esv2663688CNV Deletion23128226

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FBRSL1
    DNA2.0 Custom Variant and Variant Library Synthesis for FBRSL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FBRSL1 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with FBRSL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    2. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    3. PCGF homologs, CBX proteins, and RYBP define functionally distinct PRC1 family complexes. (PubMed id 22325352)1 Gao Z....Reinberg D. (Mol. Cell 2012)
    4. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    6. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    7. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1 Barcellos L.F....Criswell L.A. (PLoS Genet. 2009)
    8. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    9. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (Nature 2006)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57666 HGNC: 29308 AceView: KIAA1545 Ensembl:ENSG00000112787 euGenes: HUgn57666
    ECgene: FBRSL1 H-InvDB: FBRSL1

    (According to HUGE)
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    HUGE: KIAA1545

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FBRSL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FBRSL1 gene:
    Search GeneIP for patents involving FBRSL1

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