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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FRRS1L Gene

protein-coding   GIFtS: 40
GCID: GC09M111900

ferric-chelate reductase 1-like

(Previous name: chromosome 9 open reading frame 4 )
(Previous symbol: C9orf4)
 Explore 1 disease affiliated with
FRRS1L via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FRRS1L    

Aliases
for FRRS1L gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ferric-Chelate Reductase 1-Like1 2     Ferric-Chelate Reductase 1-Like Protein2 3
C9orf41 2 3 5     CG62 5
CG-61 2     Chromosome 9 Open Reading Frame 41
Brain Protein CG-62 3     DOMON Domain-Containing Protein FRRS1L2

External Ids:    HGNC: 13621   Entrez Gene: 237322   Ensembl: ENSG000001368057   OMIM: 6045745   UniProtKB: Q9P0K93   
ORGUL members:         
NONCODE:n341754    

Export aliases for FRRS1L gene to outside databases


Summaries
for FRRS1L gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
  --

Genomic Views
for FRRS1L gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for FRRS1L
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FRRS1L


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

Entrez Gene cytogenetic band: 9q31   Ensembl cytogenetic band:  9q31.3   HGNC cytogenetic band: 9q31.1-q31.2

FRRS1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FRRS1L gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M111900:  view genomic region     (about GC identifiers)

Start:
 111,899,167 bp from pter      End:
 111,929,571 bp from pter
Size:
 30,405 bases      Orientation:
 minus strand

Proteins
for FRRS1L gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: FRS1L_HUMAN, Q9P0K9 (See protein sequence)
Recommended Name: DOMON domain-containing protein FRRS1L  
Size: 344 amino acids; 37270 Da
Subunit: Component of the outer core of AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming
GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One
of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors
CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents
binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core
constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of
the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents. Alone or in
combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact
their biogenesis and protein processing (By similarity)
Subcellular location: Cell membrane (By similarity). Cell junction, synapse (By similarity)
Caution: Named FRRS1L by HGNC because it shares limited sequence similarity with FRRS1. However, sequence similarities
lie outside of the reductase region, suggesting it has no oxidoreductase activity
Secondary accessions: Q5T4G4

Explore the universe of human proteins at neXtProt for FRRS1L: NX_Q9P0K9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9P0K9

    • FRRS1L Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055149.2  
    ENSEMBL proteins: 
     ENSP00000363709  

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    Uscn Proteins for FRRS1L

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005886plasma membrane IEA--
    GO:0016021integral to membrane IEA--
    GO:0030054cell junction IEA--
    GO:0045202synapse IEA--


    FRRS1L for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for FRRS1L gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FRRS1L for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005018 DOMON_domain

    Graphical View of Domain Structure for InterPro Entry Q9P0K9

    ProtoNet protein and cluster: Q9P0K9

    UniProtKB/Swiss-Prot: FRS1L_HUMAN, Q9P0K9
    Similarity: Contains 1 DOMON domain


    Function
    for FRRS1L gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--


    FRRS1L for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for FRRS1L:
     Decreased Hepatitis C virus re  Decreased viability of wild-ty  Increased gamma-H2AX phosphory 


    Pathways & Interactions
    for FRRS1L gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FRRS1L

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--


    FRRS1L for ontologies           About GeneDecksing



    Drugs & Compounds
    for FRRS1L gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for FRRS1L
    Search CenterWatch for drugs/clinical trials and news about FRRS1L / FRS1L 

    Transcripts
    for FRRS1L gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for FRRS1L gene: 
    NM_014334.2  

    Unigene Cluster for FRRS1L:

    Ferric-chelate reductase 1-like
    Hs.347537  [show with all ESTs]
    Unigene Representative Sequence: NM_014334
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000374581(uc004bdw.1)

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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: AF155065.1 

    1 DOTS entry:

    DT.434849 

    8 AceView cDNA sequences:

    AI091011 BI467180 AI089389 BX088823 AA812707 BI324898 AF155065 BI438189 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for FRRS1L    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7
    SP1:                                          
    SP2:        -           -                     


    ECgene alternative splicing isoforms for FRRS1L

    Expression
    for FRRS1L gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FRRS1L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATTGGGAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See FRRS1L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FRRS1L

    SOURCE GeneReport for Unigene cluster: Hs.347537

    UniProtKB/Swiss-Prot: FRS1L_HUMAN, Q9P0K9
    Tissue specificity: Expressed in adult and fetal brain. Very weak expression in medulla, spinal cord and in adult ovary

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    In Situ
    Assay Products:     
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    Orthologs
    for FRRS1L gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for FRRS1L gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Frrs1l1 , 5 RIKEN cDNA 6430704M03 gene5
    ferric-chelate reductase 1 like1    		 89.04(n)1
    93.84(a)1    		   4 (31.66 cM)5
    2302351  NM_001142965.11  NP_001136437.11 
     569571735 
    chicken
    (Gallus gallus)    		 Aves C2H9orf41 chromosome 2 open reading frame, human C9orf4 84.02(n)
    95.89(a)    		   420961  XM_419045.3  XP_419045.2 
    lizard
    (Anolis carolinensis)    		 Reptilia C9orf46
    		 --
    		 83(a)
    		 1 ↔ 1
    		 6(57404043-57414534)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1005366681 uncharacterized protein C9orf4-like 73.14(n)
    78.78(a)    		   100536668  XM_003200196.1  XP_003200244.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG83996
    		 --
    		 7(a)
    		 1 ↔ 1
    		 2R(11905244-11912139)
    worm
    (Caenorhabditis elegans)    		 Secernentea M03A1.86
    C13B4.16
    (see all 3)    		 Protein C13B4.1, isoform a
    (see all 3)    		 5(a)
    5(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 II(4560394-4562618)
    II(14470297-14479551)


    ENSEMBL Gene Tree for FRRS1L (if available)
    TreeFam Gene Tree for FRRS1L (if available) 

    Paralogs
    for FRRS1L gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FRRS1L gene
    FRRS12  

    FRRS1L for paralogs           About GeneDecksing



    Genomic Variants
    for FRRS1L gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/603 NCBI SNPs in FRRS1L are shown (see all 603)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs78519281,2
    		C,F,A,--111899099(+) TGCTCG/AGCCAA 1 -- ds50017Minor allele frequency- A:0.21NA WA CSA EA 365
    rs726071741,2
    		C,F,--111899132(+) TTTTCA/TTATCA 1 -- ds50013Minor allele frequency- T:0.23WA NA EA 358
    rs117940071,2
    		C,F,H,--111899155(+) CCAATC/ATCCCC 1 -- ds50019Minor allele frequency- A:0.13NS EA NA CSA WA 650
    rs117940201,2
    		C,F,A,H,--111899198(+) CTTTAC/TGGAAA 1 -- ds5001 ese315Minor allele frequency- T:0.15NS EA NA CSA WA 1838
    rs107593281,2
    		C,F,A,H,--111899305(+) ACTCAC/TAGTAA 1 -- ds5001 ese324Minor allele frequency- N:0.00EA NA NS WA CSA 2564
    rs793169841,2
    		F,--111899454(+) ATCACA/GATTTT 1 -- ds50011Minor allele frequency- G:0.15WA 118
    rs1181497601,2
    		--111899471(+) TCCAAC/TTCAGA 1 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1857747611,2
    		--111899503(+) AAAACA/GTATGT 1 -- ds50010--------
    rs1461080711,2
    		--111899619(+) AATTAC/TATGAG 1 -- ut310--------
    rs776960811,2
    		C,F,--111899621(+) TTATAT/CGAGGT 1 -- ut311Minor allele frequency- C:0.05WA 118

    HapMap Linkage Disequilibrium report for FRRS1L (111899167 - 111929571 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FRRS1L: --

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    Disorders / Diseases
    for FRRS1L gene

    (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.)
    About This Section
    FRRS1L for disorders           About GeneDecksing

    OMIM gene information: 604574    OMIM disorders: --

    1 disease for FRRS1L:    About MalaCards
    dysautonomia


    Export disorders for FRRS1L gene to outside databases

    Publications
    for FRRS1L gene

    (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)
    About This Section

    PubMed articles for FRRS1L gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FRRS1L)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31. (PubMed id 10603000)1, 2, 3 Chadwick B.P.... Slaugenhaupt S.A. (2000)
    2. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)

    External Searches for FRRS1L gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing FRRS1L gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23732 HGNC: 1362 AceView: C9orf4 Ensembl:ENSG00000136805 euGenes: HUgn23732
    ECgene: FRRS1L H-InvDB: FRRS1L

    Other Databases showing FRRS1L gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FRRS1L gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FRRS1L Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for FRRS1L gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for FRRS1L gene:
    Search GeneIP for patents involving FRRS1L

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for FRRS1L gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
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     Browse OriGene Antibodies   OriGene shRNA RFP for FRRS1L  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FRRS1L   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FRRS1L  
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     OriGene siRNA for FRRS1L   OriGene 3'-UTR Clone for FRRS1L  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FRRS1L   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FRRS1L  
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     OriGene Custom Antibody Services for FRRS1L   OriGene Custom Protein Services for FRRS1L  
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     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FRRS1L
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FRRS1L
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FRRS1L
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FRRS1L
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FRRS1L
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FRRS1L
     GenScript Custom Purified and Recombinant Proteins Services for FRRS1L GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for FRRS1L
     GenScript Custom Assay Services for FRRS1L GenScript Custom Superior Antibodies Services for FRRS1L
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     Browse Sino Biological Proteins and Antibodies
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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
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     Search for Antibodies for FRRS1L at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for FRRS1L
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     FRRS1L Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for FRRS1L
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     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRRS1L
     SwitchGear 3'UTR luciferase reporter plasmids for FRRS1L
     Browse SwitchGear Promoter luciferase reporter plasmids for FRRS1L
     Search ThermoFisher Antibodies for FRRS1L
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FRRS1L
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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