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

ARL13A Gene

protein-coding   GIFtS: 43
GCID: GC0XP100224

ADP-ribosylation factor-like 13A

(Previous name: ADP-ribosylation factor-like 13 )
(Previous symbol: ARL13)
 Explore 1 disease affiliated with
ARL13A via our new
 Human Malady Compendium 
Biological research products
for ARL13A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
ADP-Ribosylation Factor-Like 13A1 2
ARL131 2
ADP-Ribosylation Factor-Like 131 2
ADP-Ribosylation Factor-Like Protein 13A2
DJ341D10.21

External Ids:    HGNC: 317091   Entrez Gene: 3925092   Ensembl: ENSG000001742257   UniProtKB: Q5H9133   

Export aliases for ARL13A gene to outside databases

Previous GC identifers: GC0XP100035 GC0XP100111 GC0XP090022


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011651.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ARL13A gene promoter:
         HFH-3   GATA-3   GATA-1   GATA-2   MEF-2A   RORalpha1   FOXI1   POU2F1   POU2F1a   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARL13A promoter sequence
   Search SABiosciences Chromatin IP Primers for ARL13A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARL13A


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

Entrez Gene cytogenetic band: Xq22.1   Ensembl cytogenetic band:  Xq22.1   HGNC cytogenetic band: Xq22.1

ARL13A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARL13A gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP100224:  view genomic region     (about GC identifiers)

Start:
100,224,697 bp from pter      End:
100,245,820 bp from pter
Size:
21,124 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AR13A_HUMAN, Q5H913 (See protein sequence)
Recommended Name: ADP-ribosylation factor-like protein 13A  
Size: 290 amino acids; 33003 Da
Sequence caution: Sequence=CAI42661.1; Type=Erroneous gene model prediction;
Secondary accessions: B2RTT6 B4DX50
Alternative splicing: 2 isoforms:  Q5H913-1   Q5H913-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ARL13A: NX_Q5H913

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5H913

  • ARL13A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001013008.2  NP_001155962.1  NP_001155963.1  

    ENSEMBL proteins: 
     ENSP00000414757   ENSP00000398637   ENSP00000362044   ENSP00000445825  

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    Uscn Proteins for ARL13A

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IEA--


    ARL13A for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ARL13A for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR006689 Small_GTPase_ARF/SAR
     IPR024156 Small_GTPase_ARF

    Graphical View of Domain Structure for InterPro Entry Q5H913

    ProtoNet protein and cluster: Q5H913

    UniProtKB/Swiss-Prot: AR13A_HUMAN, Q5H913
    Similarity: Belongs to the small GTPase superfamily. Arf family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005525GTP binding IEA--


    ARL13A for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ARL13A:
     Synthetic lethal with Ras 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ARL13A

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for ARL13A (ENSP000004147574) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGFBR1ENSP000003641334STRING: ENSP00000364133
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007264small GTPase mediated signal transduction IEA--


    ARL13A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 ARL13A
    Search CenterWatch for drugs/clinical trials and news about ARL13A / AR13A 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
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    About This Section

    REFSEQ mRNAs for ARL13A gene (3 alternative transcripts): 
    NM_001012990.3  NM_001162490.1  NM_001162491.1  

    Unigene Cluster for ARL13A:

    ADP-ribosylation factor-like 13A
    Hs.147237  [show with all ESTs]
    Unigene Representative Sequence: NM_001162490
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000450457(uc004ego.3 uc011mrf.2 uc010nng.3) ENST00000450049
    ENST00000372953 ENST00000494863

    miRNA
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    hsa-miR-1266 hsa-miR-526b hsa-miR-26b* hsa-miR-4294
    SwitchGear 3'UTR luciferase reporter plasmidARL13A 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK301813.1 BC140808.1 BC144603.1 

    2 DOTS entries:

    DT.65284394  DT.92053102 

    6 AceView cDNA sequences:

    CD300373 AA401549 AI205921 AW118931 BX119507 BG188455 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ARL13A    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6
    SP1:                                          
    SP2:              -     -     -               
    SP3:                                          


    ECgene alternative splicing isoforms for ARL13A

    (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

    ARL13A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAAGAAGGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ARL13A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSpermatidGerm Cells, Male Gametocytes
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ARL13A Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.147237
        SABiosciences Custom PCR Arrays for ARL13A
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARL13A

    (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 ARL13A gene from 3/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ARL13A1 ADP-ribosylation factor-like 13A 53.13(n)
    42.64(a)
      422255  XM_420241.3  XP_420241.2 
    zebrafish
    (Danio rerio)
    Actinopterygii arl13a6
    ADP-ribosylation factor-like 13A
    19(a)
    1 ↔ 1
    14(42768751-42784202)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG178196
    --
    24(a)
    1 ↔ 1
    3R(17710450-17711272)


    ENSEMBL Gene Tree for ARL13A (if available)
    TreeFam Gene Tree for ARL13A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ARL13A gene
    ARFRP12  ARL13B2  
    4 SIMAP similar genes for ARL13A using alignment to 3 protein entries:     AR13A_HUMAN (see all proteins):
    ARL3    ARL2    ARF6    DKFZp434B2017

    ARL13A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/220 NCBI SNPs in ARL13A are shown (see all 220    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378788581,2
    --100222842(+) AGTTCA/CAAACC 3 -- us2k10--------
    rs1913564901,2
    --100222999(+) AGATCA/GTGCCA 3 -- us2k10--------
    rs1494622661,2
    --100223118(+) AAAGAA/GCTCCC 3 -- us2k10--------
    rs1814066381,2
    --100223134(+) CAAAGC/TTGGAA 3 -- us2k10--------
    rs344707311,2
    C--100223256(+) ACAGA-/CCCCCC 3 -- us2k10--------
    rs1443701911,2
    C,--100223406(+) TCTTTA/GCAGTG 3 -- us2k10--------
    rs1848940311,2
    --100223436(+) GCCTCA/GGCCAG 3 -- us2k10--------
    rs97854411,2
    C,F,H,--100223663(+) TGGCTG/AGATGT 3 -- us2k110Minor allele frequency- A:0.08NS EA NA 1190
    rs1433621961,2
    --100223751(+) CCTGGA/GCAATA 3 -- us2k10--------
    rs59667251,2
    C,--100223890(+) TTAGCT/CATGAT 3 -- us2k17Minor allele frequency- C:0.00NA WA CSA 10

    HapMap Linkage Disequilibrium report for ARL13A (100224697 - 100245820 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 11 variations for ARL13A
         8 CNVs: 83649 52901 83651 96847 96851 96853 96850 96848
         3 Indels: 96849 83650 96852

    SABiosciences Cancer Mutation PCR Assays
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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.)
    About This Section

    ARL13A for disorders           About GeneDecksing

    1 disease for ARL13A:    About MalaCards
    malaria


    Export disorders for ARL13A 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 ARL13A gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ARL13A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
    2. 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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    4. 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. (2002)

    (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: 392509 HGNC: 31709 AceView: ARL13 Ensembl:ENSG00000174225 euGenes: HUgn392509
    ECgene: ARL13A H-InvDB: ARL13A

    (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 ARL13A 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 ARL13A gene:
    Search GeneIP for patents involving ARL13A

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    von Willebrand factor
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