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KIAA0226 Gene

protein-coding   GIFtS: 55
GCID: GC03M197398

KIAA0226

Microbiology & Infectious Diseases Congress
  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
KIAA02261 2     RUN Domain And Cysteine-Rich Domain Containing, Beclin 1-Interacting
Protein2
Beclin-1 Associated RUN Domain Containing Protein2 3     Run Domain Beclin-1 Interacting And Cystein-Rich Containing Protein2
RUBICON2 5     Run Domain Beclin-1 Interacting And Cysteine-Rich Containing Protein2
SCAR152 5     RUN Domain Protein As Beclin 1-Interacting And Cysteine-Rich Containing2
Beclin 1-Interacting Protein1     rundataxin2
RUN Domain And Cysteine-Rich Domain Containing1     Baron3
baron2     Rubicon3

External Ids:    HGNC: 289911   Entrez Gene: 97112   Ensembl: ENSG000001450167   OMIM: 6135165   UniProtKB: Q926223   

Export aliases for KIAA0226 gene to outside databases

Previous GC identifers: GC03M194676 GC03M199276 GC03M198806 GC03M198725 GC03M198887


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KIAA0226 Gene:
The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking and controls
endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal
DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a
diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif
and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been
found for this gene. (provided by RefSeq, Apr 2014)

GeneCards Summary for KIAA0226 Gene:
KIAA0226 (KIAA0226) is a protein-coding gene. Diseases associated with KIAA0226 include lactose intolerance, and cerebellar ataxia. An important paralog of this gene is PLEKHM3.

UniProtKB/Swiss-Prot: RUBIC_HUMAN, Q92622
Function: Negatively regulates endocytic trafficking. Impairs the autophagosome maturation process. May inhibit
PIK3C3 activity (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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RefSeq DNA sequence:
NC_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA0226 gene promoter:
         c-Fos   MZF-1   CREB   RP58   AP-1   Lmo2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIAA0226

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA0226


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

Entrez Gene cytogenetic band: 3q29   Ensembl cytogenetic band:  3q29   HGNC cytogenetic band: 3q29

KIAA0226 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0226 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M197398:  view genomic region     (about GC identifiers)

Start:
197,398,259 bp from pter      End:
197,476,598 bp from pter
Size:
78,340 bases      Orientation:
minus 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: RUBIC_HUMAN, Q92622 (See protein sequence)
Recommended Name: Run domain Beclin-1 interacting and cysteine-rich containing protein  
Size: 972 amino acids; 108622 Da
Subunit: Forms a complex with BECN1, PIK3C3, PIK3R4 and UVRAG, but not with ATG14. The complex containing ATG14
up-regulates autophagy, while the one containing Rubicon down-regulates autophagy (By similarity)
Sequence caution: Sequence=BAA13215.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q96CK5
Alternative splicing: 3 isoforms:  Q92622-1   Q92622-2   Q92622-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA0226: NX_Q92622

Explore proteomics data for KIAA0226 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys50
  • Modification sites at PhosphoSitePlus

  • See KIAA0226 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001139114.1  NP_055502.1  

    ENSEMBL proteins: 
     ENSP00000273582   ENSP00000405115   ENSP00000296343   ENSP00000409618   ENSP00000411894  
     ENSP00000390962   ENSP00000374316  

    KIAA0226 Human Recombinant Protein Products:

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    KIAA0226 Antibody Products:

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    KIAA0226 Assay Products:

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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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    2 InterPro protein domains:
     IPR025258 DUF4206
     IPR004012 Run

    Graphical View of Domain Structure for InterPro Entry Q92622

    ProtoNet protein and cluster: Q92622

    UniProtKB/Swiss-Prot: RUBIC_HUMAN, Q92622
    Similarity: Contains 1 RUN domain


    KIAA0226 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: RUBIC_HUMAN, Q92622
    Function: Negatively regulates endocytic trafficking. Impairs the autophagosome maturation process. May inhibit
    PIK3C3 activity (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19270696
         
    KIAA0226 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for KIAA0226:
     Decreased viability  Increased G1 DNA content  Increased gamma-H2AX phosphory  Increased number of cells in m 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KIAA0226
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    miRTarBase miRNAs that target KIAA0226:
    hsa-mir-1303 (MIRT035888)

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    Selected qRT-PCR Assays for microRNAs that regulate KIAA0226 (see all 79):
    hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-15a hsa-miR-519a hsa-miR-3921 hsa-miR-4267 hsa-miR-629*
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0226


    (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
    RUBIC_HUMAN, Q92622: Late endosome. Lysosome. Early endosome. Note=Predominantly located in late
    endosomes/lysosomes, only partially detected in early endososome and not at all in the Golgi apparatus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    lysosome5
    vacuole5
    cytosol2
    nucleus2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IEA--
    GO:0005769early endosome IDA19270696
    GO:0005770late endosome IDA19270696
    GO:0005794NOT colocalizes with Golgi apparatus IDA19270696

    KIAA0226 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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    SuperPaths for KIAA0226 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Apoptosis and Autophagy
    Apoptosis and Autophagy

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for KIAA0226
        Apoptosis and Autophagy



    KIAA0226 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIAA0226
    Interactions:

        Search GeneGlobe Interaction Network for KIAA0226

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for KIAA0226 (Q926223 ENSP000002963434) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3C3Q8NEB93, ENSP000002620394I2D: score=3 STRING: ENSP00000262039
    BECN1Q144573, ENSP000003552314I2D: score=5 STRING: ENSP00000355231
    UVRAGQ9P2Y53, ENSP000003484554I2D: score=3 STRING: ENSP00000348455
    SMAD9O151983I2D: score=2 
    TECPR1Q7Z6L13I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006897endocytosis IEA--
    GO:0006914autophagy IEA--
    GO:0010507negative regulation of autophagy IMP19270696
    GO:0045806negative regulation of endocytosis IMP19270696

    KIAA0226 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 KIAA0226 (RUBIC)



    (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 KIAA0226 gene (2 alternative transcripts): 
    NM_001145642.3  NM_014687.2  

    Unigene Cluster for KIAA0226:

    KIAA0226
    Hs.478868  [show with all ESTs]
    Unigene Representative Sequence: NM_001145642
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000273582(uc003fyc.2 uc003fyd.3 uc003fyf.3) ENST00000413360
    ENST00000296343 ENST00000415452(uc003fye.1) ENST00000471364 ENST00000447048
    ENST00000449205(uc003fyg.3) ENST00000467303 ENST00000474214 ENST00000472149
    ENST00000389665
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate KIAA0226 (see all 79):
    hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-15a hsa-miR-519a hsa-miR-3921 hsa-miR-4267 hsa-miR-629*
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      QuantiTect SYBR Green Assays in human, mouse, rat KIAA0226
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    Additional mRNA sequence: 

    AK295625.1 BC014173.2 BC033615.1 BX647598.1 D86979.3 

    11 DOTS entries:

    DT.95372149  DT.213532  DT.100009050  DT.120895054  DT.99998410  DT.75193189  DT.75147510  DT.120895026 
    DT.75169295  DT.97825368  DT.91689741 

    Selected AceView cDNA sequences (see all 139):

    AL041015 CF121460 AI657049 CB852284 AI818976 AI819969 BM760636 CB123251 
    AW207364 AW016481 CR601728 CB528410 AI676054 BU166581 CB266480 AI373897 
    BU689732 CB241734 AI360844 BM547534 BM727296 AI086822 BF448041 AI681846 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0226 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19
    SP1:                                                                                                                                                      
    SP2:                                                        -                                                                                             
    SP3:                                                                                                              -                                       
    SP4:                                                                                                              -                                       
    SP5:              -                                                                                                                                       


    ECgene alternative splicing isoforms for KIAA0226

    (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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    KIAA0226 expression in normal human tissues (normalized intensities)      KIAA0226 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KIAA0226 Expression
    About this image


    KIAA0226 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Thalamus
             Substantia Nigra   
    KIAA0226 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA0226 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.478868
        Custom PCR Arrays for KIAA0226
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0226

    (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 KIAA0226 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1700021K19Rik1 , 5 RIKEN cDNA 1700021K19 gene1, 5 86.31(n)1
    87.27(a)1
      16 (23.38 cM)5
    1005026981  NM_001200038.11  NP_001186967.11 
     328217075 
    chicken
    (Gallus gallus)
    Aves KIAA02261 KIAA0226 74.68(n)
    75.41(a)
      424920  XM_004943357.1  XP_004943414.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA02266
    KIAA0226
    68(a)
    1 ↔ 1
    GL343433.1(228837-286434)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kiaa02261 KIAA0226 ortholog 64.48(n)
    64.96(a)
      100497647  XM_004914388.1  XP_004914445.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch1073-280h16.11 si:ch1073-280h16.1 61.61(n)
    60.72(a)
      100000896  XM_005174059.1  XP_005174116.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG127723   -- 39(a)
    (best of 2)
      8A1   --


    ENSEMBL Gene Tree for KIAA0226 (if available)
    TreeFam Gene Tree for KIAA0226 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIAA0226 gene
    PLEKHM32  DEF82  KIAA0226L2  PLEKHM12  
    2 SIMAP similar genes for KIAA0226 using alignment to 6 protein entries:     RUBIC_HUMAN (see all proteins):
    DKFZp313O2236    KIAA0226L

    KIAA0226 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 KIAA0226 (see all 1612)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1867144801,2
    --197397772(+) AGGGAA/GAAGAC 1 -- ds50010--------
    rs1383599651,2
    C--197397792(+) GGACAC/TGCTCA 1 -- ds50010--------
    rs1162946811,2
    C,F--197397803(+) CTACTG/ACAGAG 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1149767391,2
    F--197397838(+) GTAGAG/AGTGGT 2 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1462733211,2
    --197397918(+) GTCTCA/GCTCTT 2 -- ds50010--------
    rs1906617701,2
    --197397937(+) ATGGAC/GTGCAA 2 -- ds50010--------
    rs1128790861,2
    C,F--197397972(+) CCCTCG/ACCTTC 2 -- ds50014Minor allele frequency- A:0.04CSA WA EA 242
    rs1808876151,2
    --197398020(+) AGCTGC/GGATTA 2 -- ds50010--------
    rs1387263781,2
    --197398032(+) AAGCAC/TATGCC 2 -- ds50010--------
    rs1495358791,2
    C--197398037(+) CATGCC/TACCAT 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for KIAA0226 (197398259 - 197476598 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KIAA0226 (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2663109CNV Deletion23128226
    esv2726674CNV Deletion23290073
    esv2668997CNV Deletion23128226
    esv2726672CNV Deletion23290073
    nsv236569CNV Insertion16902084
    esv1514481CNV Insertion17803354
    nsv508983CNV Insertion20534489
    esv995678CNV Insertion20482838
    nsv829831CNV Loss17160897
    esv25937CNV Loss19812545

    Human Gene Mutation Database (HGMD): KIAA0226
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KIAA0226
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA0226

    (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

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    OMIM gene information: 613516   
    OMIM disorders: 615705  
    4 diseases for KIAA0226:    About MalaCards
    lactose intolerance    cerebellar ataxia    ataxia    cerebritis

    1 disease from the University of Copenhagen DISEASES database for KIAA0226:
    Lactose intolerance

    KIAA0226 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KIAA0226
    Human Genome Epidemiology (HuGE) Navigator: KIAA0226 (2 documents)

    Export disorders for KIAA0226 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

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    PubMed articles for KIAA0226 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with KIAA0226)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)1, 2, 3 Nagase T.... Nomura N. (DNA Res. 1996)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. (PubMed id 20826435)1, 3 Assoum M....Koenig M. (Brain 2010)
    4. Two Beclin 1-binding proteins, Atg14L and Rubicon, reciprocally regulate autophagy at different stages. (PubMed id 19270696)1, 2 Matsunaga K.... Yoshimori T. (Nat. Cell Biol. 2009)
    5. Distinct regulation of autophagic activity by Atg14L and Rubicon associated with Beclin 1-phosphatidylinositol-3-kinase complex. (PubMed id 19270693)1, 3 Zhong Y....Yue Z. (Nat. Cell Biol. 2009)
    6. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)1, 2 Muzny D.M....Gibbs R.A. (Nature 2006)
    7. The Salih ataxia mutation impairs Rubicon endosomal localization. (PubMed id 23728897)1 Assoum M....Koenig M. (Cerebellum 2013)
    8. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    9. The autophagy regulator Rubicon is a feedback inhibitor of CARD9-mediated host innate immunity. (PubMed id 22423967)1 Yang C.S....Jung J.U. (amp 2012)
    10. Recent advances in the genetics of cerebellar ataxias. (PubMed id 22527681)1 Sailer A. and Houlden H. (Curr Neurol Neurosci Rep 2012)

    (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)
    About This Section

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    Entrez Gene: 9711 HGNC: 28991 AceView: KIAA0226 Ensembl:ENSG00000145016 euGenes: HUgn9711
    ECgene: KIAA0226 H-InvDB: KIAA0226

    (According to HUGE)
    About This Section

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    HUGE: KIAA0226

    (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 KIAA0226 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for KIAA0226 gene:
    Search GeneIP for patents involving KIAA0226

    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
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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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