KIAA0226 Gene
protein-coding GIFtS: 52
GCID: GC03M197398
|
|
KIAA0226
| |
Aliases
for KIAA0226 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| KIAA02261 2 | | RUN Domain And Cysteine-Rich Domain Containing, Beclin 1-Interacting Protein2 | | Rundataxin1 | | Run Domain Beclin-1 Interacting And Cystein-Rich Containing Protein2 | | Beclin-1 Associated RUN Domain Containing Protein2 3 | | RUN Domain Protein As Beclin 1-Interacting And Cysteine-Rich Containing2 | | Rubicon3 | | Baron3 | | RUBICON2 | | Rubicon3 | | Baron3 | | |
Export aliases for KIAA0226 gene to outside databasesPrevious GC identifers: GC03M194676 GC03M199276 GC03M198806 GC03M198725 GC03M198887 |
Summaries
for KIAA0226 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: RUBIC_HUMAN, Q92622Function: Negatively regulates endocytic trafficking. Impairs the autophagosome maturation process. May inhibit PIK3C3activity (By similarity)
|
Genomic Views
for KIAA0226 gene
(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_000003.11 NC_018914.1 NT_029928.13
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the KIAA0226 gene promoter:
c-Fos MZF-1 CREB RP58 AP-1 Lmo2
Other transcription factors
Search SABiosciences Chromatin IP Primers for KIAA0226
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 3q29KIAA0226 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for KIAA0226 gene
(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: RUBIC_HUMAN, Q92622 (See
protein sequence)Recommended Name: Run domain Beclin-1 interacting and cystein-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 ATG14up-regulates autophagy, while the one containing Rubicon down-regulates autophagy (By similarity)
Subcellular location: 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
Sequence caution: Sequence=BAA13215.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q96CK5Alternative 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
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q92622
KIAA0226 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_055502.1 NP_001139114.1
ENSEMBL proteins: ENSP00000273582 ENSP00000405115 ENSP00000296343 ENSP00000409618 ENSP00000411894 ENSP00000390962 ENSP00000374316
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
KIAA0226 for ontologies About GeneDecksing
KIAA0226 Antibody Products:
Assay Products for KIAA0226: |
Protein
Domains /
Families
for KIAA0226 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KIAA0226 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q92622ProtoNet protein and cluster: Q92622 UniProtKB/Swiss-Prot: RUBIC_HUMAN, Q92622Similarity: Contains 1 RUN domain |
Function
for KIAA0226 gene
(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
|
Function Summary:
UniProtKB/Swiss-Prot: RUBIC_HUMAN, Q92622Function: Negatively regulates endocytic trafficking. Impairs the autophagosome maturation process. May inhibit PIK3C3activity (By similarity)
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KIAA0226 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0226 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
KIAA0226 for ontologies About GeneDecksing
4 GenomeRNAi human phenotypes for KIAA0226:
|
Pathways & Interactions
for KIAA0226 gene
(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
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Apoptosis and Autophagy | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Cell Signaling Technology (CST) Pathway for KIAA0226
KIAA0226 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIAA0226
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
5/6 Interacting proteins for KIAA0226 (Q926223 ENSP000002963434) via UniProtKB, MINT, STRING, and/or I2D (see all 6)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
KIAA0226 for ontologies About GeneDecksing
|
Drugs & Compounds
for KIAA0226 gene(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 Tocris compounds for KIAA0226
Search CenterWatch for drugs/clinical trials and news about KIAA0226 / RUBIC
|
Transcripts
for KIAA0226 gene(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,
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,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for KIAA0226 gene (2 alternative transcripts): NM_014687.1 NM_001145642.2 Unigene Cluster for KIAA0226: KIAA0226 Hs.478868 [show with all ESTs]Unigene Representative Sequence: NM_00114564211 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
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KIAA0226 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KIAA0226 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): KIAA0226 (NM_014687) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KIAA0226 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA0226 |
Additional cDNA 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 24/139 AceView cDNA sequences (see all 139): AI819969 BC033615 BC014173 D86979 CB123251 AW016481 CB528410 CF136429 AA320424 AI086822 BQ672356 BM760636 CR601728 AW207364 CB241734 AI818976 BM719551 CF121460 CB852284 CB266480 BM727296 BU689732 BM547534 AI657049
GeneLoc Exon Structure
5/7 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
|
Expression
for KIAA0226 gene
(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
| KIAA0226 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See KIAA0226 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIAA0226
SOURCE GeneReport for Unigene cluster: Hs.478868
SABiosciences Custom PCR Arrays for KIAA0226
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KIAA0226
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat KIAA0226 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIAA0226 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIAA0226 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0226 |
Orthologs
for KIAA0226 gene
(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 eukaryotes.
Orthologs for KIAA0226 gene from 8/20 species (see all 20) About this table
ENSEMBL Gene Tree for KIAA0226 (if available)
TreeFam Gene Tree for KIAA0226 (if available) |
Paralogs
for KIAA0226 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| 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
|
Genomic Variants
for KIAA0226 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KIAA0226 (197398259 - 197476598 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for KIAA0226
4 CNVs: 68569 4370 3473 8440
1 Indel: 33379
Human Gene Mutation Database (HGMD): KIAA0226
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KIAA0226 |
|
Disorders
/ Diseases
for KIAA0226 gene
(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
|
KIAA0226 for disorders About GeneDecksing
OMIM gene information: 613516
OMIM disorders: --
2  diseases for KIAA0226: About MalaCardslactose intolerance ataxia
1 disease from the University of Copenhagen DISEASES database for KIAA0226:Lactose intolerance Human Genome Epidemiology (HuGE) Navigator: KIAA0226 (2 documents)
Export disorders for KIAA0226 gene to outside databases
|
Publications
for KIAA0226 gene (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 KIAA0226 gene, integrated from 9 sources (see all 23):
(articles sorted by number of sources associating them with KIAA0226) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (1996)
- Rundataxin, a novel protein with RUN and diacylglycer ol binding domains, is mutant in a new recessive ataxia. (PubMed id 20826435)1, 3 Assoum M....Koenig M. (2010)
- Two Beclin 1-binding proteins, Atg14L and Rubicon, reciprocally regulate autophagy at different stages. (PubMed id 19270696)1, 2 Matsunaga K....Yoshimori T. (2009)
- 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. (2009)
- The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)1, 2 Muzny D.M....Gibbs R.A. (2006)
- The autophagy regulator Rubicon is a feedback inhibito r of CARD9-mediated host innate immunity. (PubMed id 22423967)1 Yang C.S....Jung J.U. (2012)
- Recent advances in the genetics of cerebellar ataxias. (PubMed id 22527681)1 Sailer A. and Houlden H. (2012)
- Autophagy protein Rubicon mediates phagocytic NADPH ox idase activation in response to microbial infection or TLR stimulation. (PubMed id 22423966)1 Yang C.S....Jung J.U. (2012)
- The RUN domain of rubicon is important for hVps34 bin ding, lipid kinase inhibition, and autophagy suppression. (PubMed id 21062745)1 Sun Q....Zhong Q. (2011)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
|
External Searches for KIAA0226 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing KIAA0226 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KIAA0226 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing KIAA0226 gene(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
|
| Name | Description |
| PharmGKB entry for KIAA0226 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| 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
|
Products
for KIAA0226 gene(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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| |
 |  |  |  | |
| | Antibodies & Assays for KIAA0226 (rubicon) |
| | | |  |  |  |  | | | | |
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 |
 |
 | | | KIAA0226 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0226 |
|  |  |  | | | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA0226 |
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