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

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)
About This Section

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

GeneCards Summary for ARL14EP Gene: 
ARL14EP (ADP-ribosylation factor-like 14 effector protein) is a protein-coding gene. GO annotations related to this gene include protein binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_009237.18  NC_018922.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ARL14EP
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N8R7

  • ARL14EP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ARL14EP Protein Expression
    REFSEQ proteins: NP_689529.1  
    ENSEMBL proteins: 
     ENSP00000282032   ENSP00000432224  

    Human Recombinant Protein Products for ARL14EP: 
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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    ARL14EP for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    ARL14EP for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ARL14EP

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for ARL14EP (Q8N8R71 ENSP000002820324) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARL14Q8N4G21, ENSP000003238474EBI-2807994,EBI-3921493 STRING: ENSP00000323847
    MYO1EQ129651, ENSP000002882354EBI-2807994,EBI-4279548 STRING: ENSP00000288235
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ARL14EP (AL14E)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    Inhib. RNA
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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 

    24/164 AceView cDNA sequences (see all 164):

    AI925103 AA689425 BU753271 AI861967 AA447219 BQ438914 BU431234 AI052203 
    CR611896 AI383778 BE790205 AA708099 AA708144 AK096287 AI368949 AW003998 
    AW952300 AI373421 BF115119 AI416996 BQ223418 NM_152316 N66508 N56046 

    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™, 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

    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


    See ARL14EP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ARL14EP

    SOURCE GeneReport for Unigene cluster: Hs.502208

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

        SABiosciences Custom PCR Arrays for ARL14EP
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ARL14EP gene from 6/13 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_173750.21  NP_776111.11 
     1069625275 
    chicken
    (Gallus gallus)
    Aves ARL14EP1 ADP-ribosylation factor-like 14 effector protein 79.79(n)
    83.78(a)
      421605  NM_001031066.1  NP_001026237.1 
    lizard
    (Anolis carolinensis)
    Reptilia ARL14EP6
    Uncharacterized 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
    34(a)
    1 ↔ 1
    7(33959194-33963968)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG144646
    --
    32(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)
    About This Section
    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) 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

    10/374 SNPs in ARL14EP are shown (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: --
    SABiosciences Cancer Mutation 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.)
    About This Section

    ARL14EP for disorders           About MalaCards
    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)
    About This Section

    PubMed articles for ARL14EP gene, integrated from 9 sources (see all 11):
    (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. (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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    9. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 120534 HGNC: 26798 AceView: FLJ38968 Ensembl:ENSG00000152219 euGenes: HUgn120534
    ECgene: ARL14EP H-InvDB: ARL14EP

    (According to HUGE)
    About This Section
      --

    (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 ARL14EP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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