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ARL17B Gene

protein-coding   GIFtS: 32
GCID: GC17M044352

ADP-Ribosylation Factor-Like 17B

(Previous name: ADP-ribosylation factor-like 17)
(Previous symbol: ARL17)
  See related disease
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 17B1 2     ADP-Ribosylation Factor-Like Protein 172
ARL171 2     ARF1P23
ARL17A2 3     ARL17P13
ADP-Ribosylation Factor-Like 171     ADP-Ribosylation Factor 7 Variant3
ADP-Ribosylation Factor 72     

External Ids:    HGNC: 323871   Entrez Gene: 1005060842   Ensembl: ENSG000002286967   UniProtKB: Q8IVW13   

Export aliases for ARL17B gene to outside databases

Previous GC identifers: GC17M041732 GC17M044596 GC17Pp43777 GC17M044377


(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 ARL17B Gene:
ARL17B (ADP-ribosylation factor-like 17B) is a protein-coding gene. Diseases associated with ARL17B include cholera. GO annotations related to this gene include GTP binding. An important paralog of this gene is ARL17A.

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 ARL17B
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ARL17B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARL17B


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

ARL17B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARL17B gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M044352:  view genomic region     (about GC identifiers)

Start:
44,352,150 bp from pter      End:
44,439,134 bp from pter
Size:
86,985 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, and/or Cloud-Clone Corp.)
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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 ARL17B: NX_Q8IVW1

Explore proteomics data for ARL17B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ARL17B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001034172.3  NP_001096624.1  

    ENSEMBL proteins: 
     ENSP00000459151   ENSP00000391751   ENSP00000458681   ENSP00000459131   ENSP00000460539  
     ENSP00000459773   ENSP00000404247  

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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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    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


    ARL17B 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 IEA--
         
    ARL17B 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
    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 IEA--

    ARL17B 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 ARL17B
    Interactions:

        Search GeneGlobe Interaction Network for ARL17B

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

    Selected Interacting proteins for ARL17B (ENSP000004042474) 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 IEA--
    GO:0015031protein transport IEA--
    GO:0016192vesicle-mediated transport IEA--

    ARL17B 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 ARL17B (ARL17)



    (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 ARL17B gene (2 alternative transcripts): 
    NM_001039083.3  NM_001103154.1  

    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000570618 ENST00000434041(uc002iki.4) ENST00000572991(uc002ikf.3)
    ENST00000575698 ENST00000575960 ENST00000571246 ENST00000450673(uc002ikk.3 uc021tyy.1)

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    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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    ARL17B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ARL17B Expression
    About this image

    ARL17B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARL17B Protein Expression
        Custom PCR Arrays for ARL17B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARL17B

    (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 ARL17B 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 ARL17B (if available)
    TreeFam Gene Tree for ARL17B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARL17B gene
    ARL17A1 2  
    13 SIMAP similar genes for ARL17B using alignment to 4 protein entries:     ARL17_HUMAN (see all proteins):
    ARL17A    ARL17    NBR2    ARF1    ARF3    ARL1
    ARF5    ARF6    ARF4    ARL5B    ARL6    ARL5A
    SAR1B

    ARL17B for paralogs           About GeneDecksing



    (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 ARL17B (see all 31)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1443751671,2
    C--44425955(+) CCTAAC/TTCTCT 2 -- int10--------
    rs1401751751,2
    C--44428245(+) ATAGAA/GAAAGA 2 -- int10--------
    rs1898145321,2
    --44432422(+) GGAGGA/GAGGGA 2 -- int10--------
    rs1463066181,2
    C--44432891(+) GTAAC-/AAAGAAGG 2 -- int10--------
    rs1494491071,2
    C--44434729(+) AAGCCC/GGTAAA 2 -- int10--------
    rs1493851601,2
    C--44435406(+) GAGTC-/AAAAAA 2 -- int10--------
    rs1438447301,2
    ----44431614(+) AGTCA-/AAAAAT 2 -- int10--------
    rs3720873141,2
    ----44435426(+) GATAT-/ATAATATA 4 -- int1 cds10--------
    rs1393685701,2
    ----44425314(+) GATTGC/TGCCAC 2 -- int10--------
    rs1489636481,2
    ----44430663(+) GGTAAC/TTCTCT 2 -- int10--------

    HapMap Linkage Disequilibrium report for ARL17B (44352150 - 44439134 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ARL17B (see all 54):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv821581CNV Deletion20802225
    esv2656635CNV Deletion23128226
    dgv13n31CNV Duplication19718026
    dgv3200n71CNV Loss21882294
    nsv819319CNV Loss19587683
    dgv3186n71CNV Loss21882294
    dgv3194n71CNV Loss21882294
    nsv908327CNV Loss21882294
    dgv3201n71CNV Loss21882294
    dgv3189n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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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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    1 disease for ARL17B:    
    About MalaCards
    cholera


    ARL17B for disorders           About GeneDecksing


    Export disorders for ARL17B 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 ARL17B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ARL17B)
        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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    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. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    5. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)1 Choudhary C.... Mann M. (Science 2009)
    6. 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)
    7. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)
    8. (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: 100506084 HGNC: 32387 Ensembl:ENSG00000228696 euGenes: HUgn100506084 ECgene: ARL17B
    H-InvDB: ARL17B

    (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 ARL17B 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 ARL17B gene:
    Search GeneIP for patents involving ARL17B

    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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