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ARL17A Gene

protein-coding   GIFtS: 38
GCID: GC17M044595

ADP-Ribosylation Factor-Like 17A

(Previous names: ADP-ribosylation factor 1 pseudogene 2, ADP-ribosylation...)
(Previous symbols: ARF1P2, ARL17P1)
  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
ADP-Ribosylation Factor-Like 17A1 2     ADP-Ribosylation Factor-Like 17 Pseudogene 11 2
ARF1P21 2 3     ADP-Ribosylation Factor 72
ARL17P11 2 3     ADP-Ribosylation Factor-Like 17-Like2
ADP-Ribosylation Factor 1 Pseudogene 21 2     ADP-Ribosylation Factor 7 Variant3

External Ids:    HGNC: 240961   Entrez Gene: 513262   Ensembl: ENSG000001858297   UniProtKB: Q8IVW13   

Export aliases for ARL17A gene to outside databases

Previous GC identifer: GC17Pp43776


(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 ARL17A Gene:
ARL17A (ADP-ribosylation factor-like 17A) is a protein-coding gene. Diseases associated with ARL17A include familial breast cancer, and bardet-biedl syndrome. An important paralog of this gene is ARL17B.

UniProtKB/Swiss-Prot: ARL17_HUMAN, Q8IVW1
Function: GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an
ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the
Golgi apparatus (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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Regulatory elements:
   Search for regulatory transcription factor binding sites for ARL17A
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ARL17A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARL17A


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

Entrez Gene cytogenetic band: 17q21.31   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21.31

ARL17A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARL17A gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M044595:  view genomic region     (about GC identifiers)

Start:
44,594,068 bp from pter      End:
44,657,088 bp from pter
Size:
63,021 bases      Orientation:
minus strand

1 alternative location:
Chr17+,ALT_REF_LOCI_9 43,776,446-43,839,462     

(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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ARL17_HUMAN, Q8IVW1 (See protein sequence)
Recommended Name: ADP-ribosylation factor-like protein 17  
Size: 177 amino acids; 19388 Da
Sequence caution: Sequence=AAF64278.1; Type=Frameshift; Positions=114; Sequence=AAF69643.1; Type=Frameshift;
Positions=17; Sequence=AAH30570.1; Type=Erroneous initiation; Sequence=BAD92581.1; Type=Erroneous initiation;
Secondary accessions: B0AZR6 Q59FW5 Q8N6E2 Q8TD73 Q8WW54 Q9NZD5 Q9P158
Alternative splicing: 3 isoforms:  Q8IVW1-1   Q8IVW1-2   Q8IVW1-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ARL17A: NX_Q8IVW1

Explore proteomics data for ARL17A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ARL17A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001107210.1  NP_001275740.1  NP_001275741.1  NP_001275742.1  NP_057716.2  

    ENSEMBL proteins: 
     ENSP00000416535   ENSP00000459759   ENSP00000459606   ENSP00000337478   ENSP00000331563  
     ENSP00000338611  

    ARL17A Human Recombinant Protein Products:

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    ARL17A Assay Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ARL: ADP-ribosylation factors-like
    ARF: ADP-ribosylation factors

    3 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR006689 Small_GTPase_ARF/SAR
     IPR024156 Small_GTPase_ARF

    Graphical View of Domain Structure for InterPro Entry Q8IVW1

    ProtoNet protein and cluster: Q8IVW1

    1 Blocks protein domain: IPB006688 ADP-ribosylation factor

    UniProtKB/Swiss-Prot: ARL17_HUMAN, Q8IVW1
    Similarity: Belongs to the small GTPase superfamily. Arf family


    ARL17A 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: ARL17_HUMAN, Q8IVW1
    Function: GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an
    ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the
    Golgi apparatus (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005525GTP binding ----
         
    ARL17A for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ARL17A
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    miRNA
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    miRTarBase miRNAs that target ARL17A:
    hsa-mir-26b-5p (MIRT029411)

    Block miRNA regulation of human, mouse, rat ARL17A using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate ARL17A:
    hsa-miR-548p hsa-miR-548s hsa-miR-1256
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARL17A


    (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
    ARL17_HUMAN, Q8IVW1: Golgi apparatus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    extracellular2
    golgi apparatus2
    endoplasmic reticulum1
    mitochondrion1
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005794Golgi apparatus ----

    ARL17A 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 ARL17A
    Interactions:

        Search GeneGlobe Interaction Network for ARL17A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for ARL17A (ENSP000003374784) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIGTENSP000002790364STRING: ENSP00000279036
    POLR3EENSP000002998534STRING: ENSP00000299853
    STX16ENSP000003601834STRING: ENSP00000360183
    GBF1ENSP000003590004STRING: ENSP00000359000
    CLTCENSP000002691224STRING: ENSP00000269122
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007264small GTPase mediated signal transduction ----
    GO:0015031protein transport ----
    GO:0016192vesicle-mediated transport ----

    ARL17A 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 ARL17A (ARL17)

    1 HMDB Compound for ARL17A    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ARL17A gene (5 alternative transcripts): 
    NM_001113738.1  NM_001288811.1  NM_001288812.1  NM_001288813.1  NM_016632.2  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000445552 ENST00000573185 ENST00000570550 ENST00000336125(uc002iks.2)
    ENST00000329240 ENST00000337845(uc002iko.4 uc010wkd.1)
    miRNA
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    Block miRNA regulation of human, mouse, rat ARL17A using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate ARL17A:
    hsa-miR-548p hsa-miR-548s hsa-miR-1256
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat ARL17A
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    Selected AceView cDNA sequences (see all 175):

    AF493886 AA042906 BE697113 BU623906 BX103170 AA042918 BC000924 BU736178 
    CA449330 AI457277 CR624169 CR620290 CA398126 AA371155 CB158582 AW361685 
    CD651892 AL699411 BF056440 BC030570 AI683403 AI951293 BQ003307 BX500193 

    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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    ARL17A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ARL17A Expression
    About this image

    ARL17A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARL17A Protein Expression
        Custom PCR Arrays for ARL17A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARL17A

    (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 chimp.

    Orthologs for ARL17A gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    99(a)
    81(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    17(10955691-10975755)
    17(11860681-11888422)


    ENSEMBL Gene Tree for ARL17A (if available)
    TreeFam Gene Tree for ARL17A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARL17A gene
    ARL17B1 2  
    13 SIMAP similar genes for ARL17A using alignment to 2 protein entries:     ARL17_HUMAN (see all proteins):
    ARL17    ARL17B    NBR2    ARF1    ARF3    ARL1
    ARF5    ARF6    ARF4    ARL5B    ARL6    ARL5A
    SAR1B

    ARL17A for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for ARL17A (see all 11)
    PGOHUM00000237022 PGOHUM00000237064 PGOHUM00000237096 PGOHUM00000237354 PGOHUM00000237360


    (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 ARL17A (see all 32)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1492325631,2
    C--44633866(+) ATCACA/GTAGGC 2 -- ut31 int10--------
    rs1476688011,2
    --44635398(+) AAAGAC/TATCCA 2 -- int10--------
    rs1180125041,2
    F--44635425(+) TTTTGT/CTTGTT 2 -- int11Minor allele frequency- C:0.14NA 120
    rs1853930371,2
    --44645812(+) TAGATA/GGCACT 2 -- int10--------
    rs1401996291,2
    --44652701(+) TGTCTA/GTTTCT 2 -- int10--------
    rs1900802101,2
    --44652784(+) ACTGGA/GAGCGT 2 -- int10--------
    VAR_0171704
    ----see VAR_0171702 L I mis40--------
    rs1401070791,2
    ----44657154(+) GCCAAC/TGCAAA 2 -- us2k10--------
    rs1397833301,2
    ----44643249(+) GATTGC/TGCCAC 2 -- int10--------
    rs1424511081,2
    ----44658023(+) GATCAC/TGCCAC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ARL17A (44594068 - 44657088 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ARL17A (see all 81):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv820933CNV Deletion20802225
    esv2656635CNV Deletion23128226
    nsv821581CNV Deletion20802225
    dgv13n31CNV Duplication19718026
    nsv471514CNV Duplication19718026
    dgv14n31CNV Duplication19718026
    dgv3200n71CNV Loss21882294
    nsv819319CNV Loss19587683
    dgv3186n71CNV Loss21882294
    dgv3194n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ARL17A
    DNA2.0 Custom Variant and Variant Library Synthesis for ARL17A

    (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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    8 diseases for ARL17A:    
    About MalaCards
    familial breast cancer    bardet-biedl syndrome    cholera    retinitis pigmentosa
    retinitis    ischemia    ovarian cancer    breast cancer


    ARL17A for disorders           About GeneDecksing


    Export disorders for ARL17A 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 ARL17A gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with ARL17A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. (PubMed id )2 
    7. Comparative genomic analysis identifies an ADP-ribosylation factor- like gene as the cause of Bardet-Biedl Syndrome (BBS3). (PubMed id 15258860)9 Chiang A.P....Sheffield V.C. (Am. J. Hum. Genet. 2004)
    8. Expression of an ADP-ribosylation factor like gene, ARF4L, is induced after transient forebrain ischemia in the gerbil. (PubMed id 9602063)9 Katayama T....Tohyama M. (Brain Res. Mol. Brain Res. 1998)
    9. The structure of binder of Arl2 (BART) reveals a novel G protein binding domain: implications for function. (PubMed id 18981177)9 Bailey L.K.... Mott H.R. (J. Biol. Chem. 2009)
    10. [Effects of ARLTS1 gene on growth and apoptosis of epithelial ovarian cancer SKOV3 cells]. (PubMed id 19292033)9 Yang X.Y....Peng Z.L. (Sichuan Da Xue Xue Bao Yi Xue Ban 2009)

    (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: 51326 HGNC: 24096 AceView: LOC51326 Ensembl:ENSG00000185829 euGenes: HUgn51326
    ECgene: ARL17A H-InvDB: ARL17A

    (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 ARL17A 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 ARL17A gene:
    Search GeneIP for patents involving ARL17A

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    (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
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