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ARL14EP Gene

protein-coding   GIFtS: 39
GCID: GC11P030344

ADP-Ribosylation Factor-Like 14 Effector Protein

(Previous name: chromosome 11 open reading frame 46)
(Previous symbol: C11orf46)
  Search for ARL14EP
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
ADP-Ribosylation Factor-Like 14 Effector Protein1 2     Chromosome 11 Open Reading Frame 461
C11orf461 2 3 5     ARL14 Effector Protein2
ARF7EP2 3     dJ299F11.12
ARF7 Effector Protein2 3     

External Ids:    HGNC: 267981   Entrez Gene: 1205342   Ensembl: ENSG000001522197   OMIM: 6122955   UniProtKB: Q8N8R73   

Export aliases for ARL14EP gene to outside databases


(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 ARL14EP Gene:
ARL14EP (ADP-ribosylation factor-like 14 effector protein) is a protein-coding gene. An important paralog of this gene is ARL14EPL.

UniProtKB/Swiss-Prot: AL14E_HUMAN, Q8N8R7
Function: Through its interaction with ARL14 and MYO1E, may connect MHC class II-containing cytoplasmic vesicles
to the actin network and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic
cells




(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_000011.10  NT_009237.19  NC_018922.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for ARL14EP
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ARL14EP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARL14EP


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

Entrez Gene cytogenetic band: 11p14.1   Ensembl cytogenetic band:  11p14.1   HGNC cytogenetic band: 11p14.1

ARL14EP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARL14EP gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P030344:  view genomic region     (about GC identifiers)

Start:
30,344,598 bp from pter      End:
30,359,774 bp from pter
Size:
15,177 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: AL14E_HUMAN, Q8N8R7 (See protein sequence)
Recommended Name: ARL14 effector protein  
Size: 260 amino acids; 29338 Da
Subunit: Interacts with ARL14 and MYO1E
Secondary accessions: Q5HYH9

Explore the universe of human proteins at neXtProt for ARL14EP: NX_Q8N8R7

Explore proteomics data for ARL14EP at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys104, Lys118, Lys257
  • Modification sites at PhosphoSitePlus

  • See ARL14EP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689529.1  
    ENSEMBL proteins: 
     ENSP00000282032   ENSP00000432224  

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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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    1 InterPro protein domain:
     IPR026515 ARF7EP

    Graphical View of Domain Structure for InterPro Entry Q8N8R7

    ProtoNet protein and cluster: Q8N8R7


    ARL14EP 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AL14E_HUMAN, Q8N8R7
    Function: Through its interaction with ARL14 and MYO1E, may connect MHC class II-containing cytoplasmic vesicles
    to the actin network and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic
    cells

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    ARL14EP 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
    AL14E_HUMAN, Q8N8R7: Cytoplasm

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    ARL14EP 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 ARL14EP
    Interactions:

        Search GeneGlobe Interaction Network for ARL14EP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for ARL14EP (Q8N8R71 ENSP000002820324) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARL14Q8N4G21, ENSP000003238474EBI-2807994,EBI-3921493 STRING: ENSP00000323847
    MYO1EQ129651, ENSP000002882354EBI-2807994,EBI-4279548 STRING: ENSP00000288235
    ATF7IPENSP000002611684STRING: ENSP00000261168
    SETDB1ENSP000003579654STRING: ENSP00000357965
    SETDB2ENSP000003264774STRING: ENSP00000326477
    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 ARL14EP (AL14E)



    (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 ARL14EP gene: 
    NM_152316.1  

    Unigene Cluster for ARL14EP:

    ADP-ribosylation factor-like 14 effector protein
    Hs.502208  [show with all ESTs]
    Unigene Representative Sequence: AK127509
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000282032(uc001mso.1) ENST00000532047 ENST00000530909 ENST00000533457

    miRNA
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    Additional mRNA sequence: 

    AK096287.1 AK127509.1 BC047775.1 BX647617.1 

    4 DOTS entries:

    DT.95277625  DT.97770000  DT.99932416  DT.100780882 

    Selected AceView cDNA sequences (see all 164):

    BU186173 N66508 AA994849 AA708099 C01108 AI753186 AI383778 AI416996 
    BF115119 BU753271 AA708144 AA327413 AI375674 AA992583 NM_152316 AI368949 
    AA447219 BU431234 BQ008785 CR603486 AI373421 AK096287 AI052203 AI861967 

    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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    ARL14EP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ARL14EP Expression
    About this image

    ARL14EP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARL14EP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.502208

    UniProtKB/Swiss-Prot: AL14E_HUMAN, Q8N8R7
    Tissue specificity: Expressed in the immune system

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARL14EP

    (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 ARL14EP gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arl14ep1 , 5 RIKEN cDNA 2700007P21 gene5
    ADP-ribosylation factor-like 14 effector protein1
    87.39(n)1
    93.05(a)1
      2 (55.97 cM)5
    2127721  NM_001025102.11  NP_001020273.11 
     1069625275 
    chicken
    (Gallus gallus)
    Aves C5H11ORF461 chromosome 5 open reading frame, human C11orf46 79.79(n)
    83.78(a)
      421605  NM_001031066.1  NP_001026237.1 
    lizard
    (Anolis carolinensis)
    Reptilia ARL14EP6
    ADP-ribosylation factor-like 14 effector protein
    76(a)
    1 ↔ 1
    1(59503918-59518600)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.61322 Transcribed sequence with weak similarity to protein more 75.49(n)    137709976 
    zebrafish
    (Danio rerio)
    Actinopterygii arl14ep6
    ADP-ribosylation factor-like 14 effector protein
    36(a)
    1 ↔ 1
    7(33959194-33963968) ENSDARG00000001210
    fruit fly
    (Drosophila melanogaster)
    Insecta CG144646
    --
    30(a)
    1 → many
    2R(716725-717440)


    ENSEMBL Gene Tree for ARL14EP (if available)
    TreeFam Gene Tree for ARL14EP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARL14EP gene
    ARL14EPL2  ENSG000002687142  
    1 SIMAP similar gene for ARL14EP using alignment to 2 protein entries:     AL14E_HUMAN (see all proteins):
    ARL14EPL

    ARL14EP for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ARL14EP
    PGOHUM00000234944


    (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 ARL14EP (see all 374)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs785461701,2
    C,F--30342678(+) CTATGC/TGCCTT 1 -- us2k13Minor allele frequency- T:0.10CSA WA NA 240
    rs12222211,2
    C,F,O,A,H--30342738(-) TTTCAT/CCCATC 1 -- us2k131Minor allele frequency- C:0.21NS EA NA WA CSA 2914
    rs1880530921,2
    --30342746(+) AAAGGC/TGTAAG 1 -- us2k10--------
    rs1493950941,2
    --30343019(+) ATGTCA/TCCTCT 1 -- us2k10--------
    rs1812542531,2
    --30343028(+) CTAAAC/TCAGCC 1 -- us2k10--------
    rs1463396601,2
    --30343051(+) CACTTA/GGAATA 1 -- us2k10--------
    rs1168450921,2
    C,F--30343063(+) TCTCAT/GATGTG 1 -- us2k11Minor allele frequency- G:0.01NA 120
    rs1383496211,2
    C--30343068(+) TATGTC/GCTCTG 1 -- us2k10--------
    rs1460756271,2
    --30343203(+) TTCCAC/TCTGTG 1 -- us2k10--------
    rs1487045551,2
    C--30343289(+) ATATAC/TGAACA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ARL14EP (30344598 - 30359774 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ARL14EP: --
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ARL14EP
    DNA2.0 Custom Variant and Variant Library Synthesis for ARL14EP

    (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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    OMIM gene information: 612295    OMIM disorders: --


    ARL14EP for disorders           About GeneDecksing


    Export disorders for ARL14EP 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 ARL14EP gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with ARL14EP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A Genome-wide multidimensional RNAi screen reveals pathways controlling MHC class II antigen presentation. (PubMed id 21458045)1, 2, 3 Paul P.... Neefjes J. (Cell 2011)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    6. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    7. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    8. 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)
    9. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)

    (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: 120534 HGNC: 26798 AceView: FLJ38968 Ensembl:ENSG00000152219 euGenes: HUgn120534
    ECgene: ARL14EP H-InvDB: ARL14EP

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for ARL14EP 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 ARL14EP gene:
    Search GeneIP for patents involving ARL14EP

    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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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