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FER1L6 Gene

protein-coding   GIFtS: 39
GCID: GC08P124864

Fer-1-Like 6 (C. Elegans)

  See related diseases
at  

(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
Fer-1-Like 6 (C. Elegans)1 2
C8ORFK232
Fer-1-Like Protein 62
C8orfK233

External Ids:    HGNC: 280651   Entrez Gene: 6544632   Ensembl: ENSG000002148147   UniProtKB: Q2WGJ93   

Export aliases for FER1L6 gene to outside databases

Previous GC identifers: GC08P124935 GC08P120280


(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 FER1L6 Gene:
FER1L6 (fer-1-like 6 (C. elegans)) is a protein-coding gene. Diseases associated with FER1L6 include amenorrhea, and premature ovarian failure. An important paralog of this gene is OTOF.


(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:
NC_000008.11  NT_008046.17  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FER1L6 gene promoter:
         GATA-3   Nkx5-1   GATA-2   GATA-1   Meis-1b   FOXJ2 (long isoform)   FOXJ2   Meis-1a   Pax-4a   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for FER1L6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FER1L6


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

Entrez Gene cytogenetic band: 8q24.1   Ensembl cytogenetic band:  8q24.13   HGNC cytogenetic band: 8q24.13

FER1L6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FER1L6 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P124864:  view genomic region     (about GC identifiers)

Start:
124,864,227 bp from pter      End:
125,132,302 bp from pter
Size:
268,076 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FR1L6_HUMAN, Q2WGJ9 (See protein sequence)
Recommended Name: Fer-1-like protein 6  
Size: 1857 amino acids; 209308 Da

Explore the universe of human proteins at neXtProt for FER1L6: NX_Q2WGJ9

Explore proteomics data for FER1L6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys578
  • Modification sites at PhosphoSitePlus

  • See FER1L6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001034201.2  
    ENSEMBL proteins: 
     ENSP00000428280   ENSP00000381982  

    FER1L6 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR012561 Ferlin_B-domain
     IPR012968 FerIin-domain
     IPR000008 C2_dom

    Graphical View of Domain Structure for InterPro Entry Q2WGJ9

    ProtoNet protein and cluster: Q2WGJ9

    3 Blocks protein domains:
    IPB000008 C2 domain
    IPB012561 FerB
    IPB012968 FerI


    UniProtKB/Swiss-Prot: FR1L6_HUMAN, Q2WGJ9
    Similarity: Belongs to the ferlin family
    Similarity: Contains 6 C2 domains


    FER1L6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005524ATP binding ----
    GO:0042626ATPase activity, coupled to transmembrane movement of substances ----
         
    FER1L6 for ontologies           About GeneDecksing


    Animal Models:
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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 UniProtKB/Swiss-Prot
    FR1L6_HUMAN, Q2WGJ9: Membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    FER1L6 for ontologies           About GeneDecksing


    (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 FER1L6
    Interactions:

        Search GeneGlobe Interaction Network for FER1L6

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for FER1L6 (ENSP000003819824) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EHD2ENSP000002632774STRING: ENSP00000263277
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0055085transmembrane transport ----

    FER1L6 for ontologies           About GeneDecksing



    (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 FER1L6 (FR1L6)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FER1L6 gene: 
    NM_001039112.2  

    Unigene Cluster for FER1L6:

    Fer-1-like 6 (C. elegans)
    Hs.632058  [show with all ESTs]
    Unigene Representative Sequence: AB196633
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000522917(uc003yqw.3) ENST00000399018
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat FER1L6

    Additional mRNA sequence: AB196633.1 

    1 DOTS entry:

    DT.95137898 

    GeneLoc Exon Structure


    (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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    FER1L6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAATCAACA
    FER1L6 Expression
    About this image

    FER1L6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FER1L6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632058
        Custom PCR Arrays for FER1L6
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FER1L6

    (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 animals.

    Orthologs for FER1L6 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fer1l61 , 5 fer-1-like 6 (C. elegans)1, 5 85.39(n)1
    88.51(a)1
      15 (24.88 cM)5
    6317971  XM_006521609.11  XP_006521672.11 
     585100485 
    chicken
    (Gallus gallus)
    Aves FER1L61 fer-1-like 6 (C. elegans) 72.21(n)
    74.77(a)
      420340  XM_003640865.2  XP_003640913.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    81(a)
    72(a)
    1 ↔ many
    1 ↔ many
    4(6435893-6479286)
    4(6484461-6552648)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fer1l61 fer-1-like 6 (C. elegans) 68.93(n)
    71.42(a)
      100497075  XM_002941400.2  XP_002941446.2 
    zebrafish
    (Danio rerio)
    Actinopterygii fer1l61 fer-1-like 6 (C. elegans) 62.94(n)
    62.51(a)
      100535460  XM_003199191.2  XP_003199239.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta mfr1 misfire 44.44(n)
    31.84(a)
      39016  NM_001144447.1  NP_001137919.1 
    worm
    (Caenorhabditis elegans)
    Secernentea fer-16
    ferl-16
    Protein FERL-1 (ferl-1) mRNA, complete cds
    20(a)
    15(a)
    many ↔ many
    many ↔ many
    I(8623017-8631184) WBGene00001414
    I(5455730-5459550) WBGene00020262


    ENSEMBL Gene Tree for FER1L6 (if available)
    TreeFam Gene Tree for FER1L6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FER1L6 gene
    OTOF2  MYOF2  DYSF2  
    2 SIMAP similar genes for FER1L6 using alignment to 1 protein entry:     FR1L6_HUMAN:
    OTOF    FER1L4

    FER1L6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FER1L6
    PGOHUM00000250543


    (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 FER1L6 (see all 4754)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1115041901,2
    C--120272419(+) GTGTGTGTGTGT 
     GTGTC
    /-
    TGTGT
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs64701921,2
    C,F,A,H--124862503(+) CCTCAC/TGAAAT 1 -- us2k131Minor allele frequency- N:0.00NS EA NA WA 2992
    rs1391738831,2
    C--124862527(+) TACAA-/TGTGTG
            
    TGTGT
    1 -- us2k10--------
    rs2018478811,2
    C--124862555(+) GTGTG-/TGTGTA
            
    TGTAT
    1 -- us2k10--------
    rs2000548711,2
    C--124862559(+) GTGTG-/GT/G  
      TGT
    /TA
    TGTAT
    1 -- us2k10--------
    rs350132531,2
    C,F--124862560(+) TGTGTA/GTGTAT 1 -- us2k17Minor allele frequency- G:0.35NA WA CSA EA 249
    rs70068801,2
    C,F,A,H--124862604(+) tagccC/Tcagga 1 -- us2k124Minor allele frequency- T:0.29NS EA NA WA CSA 2349
    rs2021319461,2
    --124862604(+) TAGCC-/TCAGGA 1 -- us2k10--------
    rs603900871,2
    C,F--124862614(+) AAACTC/ATTGTG 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1853929061,2
    --124862643(+) CCCTCC/TTCAGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FER1L6 (124864227 - 125114227 bp, first 250kb of FER1L6)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FER1L6 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv435876CNV Deletion17901297
    esv2310236CNV Deletion18987734
    nsv395998CNV Insertion16902084
    esv273651CNV Insertion20981092
    esv1213669CNV Insertion17803354
    esv270982CNV Insertion20981092
    nsv510173CNV Loss20534489
    esv23245CNV Loss19812545
    nsv6375CNV Loss18451855
    nsv6374CNV Loss18451855

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    4 diseases for FER1L6:    
    About MalaCards
    amenorrhea    premature ovarian failure    type 1 diabetes    malaria

    1 disease from the University of Copenhagen DISEASES database for FER1L6:
    Premature ovarian failure

    FER1L6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): FER1L6
    Human Genome Epidemiology (HuGE) Navigator: FER1L6 (2 documents)

    Export disorders for FER1L6 gene to outside databases

    (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 FER1L6 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FER1L6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. 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)
    3. A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PubMed id 19875614)4 Paterson A.D....Bull S.B. (Diabetes 2010)
    4. Replication of previous genome-wide association studies of bone mineral density in premenopausal American women. (PubMed id 20200978)1 Ichikawa S....Econs M.J. (J. Bone Miner. Res. 2010)
    5. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (Nature 2006)
    6. (PubMed id )2 

    (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: 654463 HGNC: 28065 Ensembl:ENSG00000214814 euGenes: HUgn654463 ECgene: FER1L6
    H-InvDB: FER1L6

    (According to HUGE)
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      --

    (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 FER1L6 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 FER1L6 gene:
    Search GeneIP for patents involving FER1L6

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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