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FER1L5 Gene

protein-coding   GIFtS: 35
GCID: GC02P097308

Fer-1-Like 5 (C. Elegans)

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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
Fer-1-Like 5 (C. Elegans)1 2
Fer-1-Like Protein 52

External Ids:    HGNC: 190441   Entrez Gene: 903422   Ensembl: ENSG000002497157   UniProtKB: A0AVI23   

Export aliases for FER1L5 gene to outside databases

Previous GC identifers: GC08U900646 GC02P096673 GC02P096724


(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 FER1L5 Gene:
FER1L5 (fer-1-like 5 (C. elegans)) is a protein-coding gene.

UniProtKB/Swiss-Prot: FR1L5_HUMAN, A0AVI2
Function: Plays a role in myoblast fusion; probable mediator of endocytic recycling for membrane trafficking
events during myotube formation (By similarity)




(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_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FER1L5 gene promoter:
         HOXA9B   HOXA9   AML1a   LCR-F1   Evi-1   YY1   AREB6   c-Myb   Zic3   ATF6   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for FER1L5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FER1L5


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

Entrez Gene cytogenetic band: 2q11.2   Ensembl cytogenetic band:  2q11.2   HGNC cytogenetic band: 2q11.2

FER1L5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FER1L5 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P097308:  view genomic region     (about GC identifiers)

Start:
97,308,474 bp from pter      End:
97,370,624 bp from pter
Size:
62,151 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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FR1L5_HUMAN, A0AVI2 (See protein sequence)
Recommended Name: Fer-1-like protein 5  
Size: 2093 amino acids; 241963 Da
Subunit: Interacts (via second C2 domain) with EHD1 and EHD2 (By similarity)
Secondary accessions: Q17RH2 Q6ZU24
Alternative splicing: 3 isoforms:  A0AVI2-1   A0AVI2-2   A0AVI2-3   

Explore the universe of human proteins at neXtProt for FER1L5: NX_A0AVI2

Explore proteomics data for FER1L5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FER1L5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001106853.1  

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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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    5 InterPro protein domains:
     IPR012561 Ferlin_B-domain
     IPR006614 Peroxin/Ferlin
     IPR012968 FerIin-domain
     IPR012560 Ferlin_A-domain
     IPR000008 C2_dom

    Graphical View of Domain Structure for InterPro Entry A0AVI2

    ProtoNet protein and cluster: A0AVI2

    UniProtKB/Swiss-Prot: FR1L5_HUMAN, A0AVI2
    Similarity: Belongs to the ferlin family
    Similarity: Contains 6 C2 domains


    Find genes that share domains with FER1L5           About GenesLikeMe


    (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, 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FR1L5_HUMAN, A0AVI2
    Function: Plays a role in myoblast fusion; probable mediator of endocytic recycling for membrane trafficking
    events during myotube formation (By similarity)

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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
    FR1L5_HUMAN, A0AVI2: Cell membrane (By similarity). Membrane; Single-pass membrane protein (Potential).
    Note=Colocalizes with EHD1 and EHD2 at plasma membrane in myoblasts and myotubes. Localizes into foci at the
    plasma membrane (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    endoplasmic reticulum1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with FER1L5           About GenesLikeMe


    (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 FER1L5
    Interactions:

        Search GeneGlobe Interaction Network for FER1L5

    (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 FER1L5 (FR1L5)



    (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 FER1L5 gene (2 alternative transcripts): 
    NM_001113382.1  NM_001077400.1  

    Unigene Cluster for FER1L5:

    Fer-1-like 5 (C. elegans)
    Hs.534025  [show with all ESTs]
    Unigene Representative Sequence: NM_001113382
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000505256(uc002swr.2) ENST00000424961 ENST00000457909(uc010fib.1 uc002sws.4 uc010yus.2)
    ENST00000414152(uc010fia.3) ENST00000436930 ENST00000397978
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    5 DOTS entries:

    DT.407774  DT.91979155  DT.120942218  DT.40127445  DT.95227293 

    3 AceView cDNA sequences:

    AK126032 AW891772 CD236867 

    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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    FER1L5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FER1L5 Expression
    About this image

    FER1L5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FER1L5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534025
        Custom PCR Arrays for FER1L5
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    In Situ
    Assay Products:
     

     
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    (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 human and mouse.

    Orthologs for FER1L5 gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fer1l51 , 5 fer-1-like 5 (C. elegans)1, 5 80.4(n)1
    74.65(a)1
      1 (15.26 cM)5
    1005342731  NM_001277076.11  NP_001264005.11 
     363722915 


    ENSEMBL Gene Tree for FER1L5 (if available)
    TreeFam Gene Tree for FER1L5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FER1L5 gene
    3 SIMAP similar genes for FER1L5 using alignment to 3 protein entries:     FR1L5_HUMAN (see all proteins):
    DYSF    MYOF    FER1L4

    Find genes that share paralogs with FER1L5           About GenesLikeMe



    (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 FER1L5 (see all 1147)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1447757991,2
    --97306816(+) TCACTA/GACCCA 1 -- us2k10--------
    rs742637711,2
    C--97306851(+) ATCTCC/TTAGAC 1 -- us2k10--------
    rs2002006781,2
    C--97306918(+) ACATTG/TTNNNN 1 -- us2k10--------
    rs129913851,2
    C--97306919(+) CATTGG/Tttttt 1 -- us2k10--------
    rs129913881,2
    C--97306920(+) ATTGtG/Tttttt 1 -- us2k10--------
    rs133937291,2
    C--97306987(+) GGCGTA/GATCTC 1 -- us2k13Minor allele frequency- G:0.20WA CSA 5
    rs1857917031,2
    --97307563(+) TTGGAG/TAAGAT 1 -- us2k10--------
    rs1447985641,2
    C--97307677(+) AAAGA-/AA    
       AAACC
    CAGCC
    1 -- us2k10--------
    rs1903962411,2
    --97307694(+) AAACCA/GCATTG 1 -- us2k10--------
    rs1143830411,2
    F--97307807(+) TCCACG/ATTAGG 1 -- us2k11Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for FER1L5 (97308474 - 97370624 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for FER1L5:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv650e201CNV Deletion23290073
    esv2720413CNV Deletion23290073
    nsv874680CNV Loss21882294
    nsv469775CNV Loss16826518
    nsv526313CNV Loss19592680
    nsv874677CNV Loss21882294
    nsv834307CNV Loss17160897
    nsv834306CNV Loss17160897
    esv5003CNV Complex18987735

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    (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 FER1L5 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FER1L5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1 (Nat. Genet. 2011)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. 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)
    6. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)

    (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: 90342 HGNC: 19044 AceView: LOC442030 Ensembl:ENSG00000249715 euGenes: HUgn90342
    ECgene: FER1L5 H-InvDB: FER1L5

    (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 FER1L5 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 FER1L5 gene:
    Search GeneIP for patents involving FER1L5

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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