Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KIAA0226 Gene

Aliases for KIAA0226 Gene

  • KIAA0226 2 3
  • RUBICON 3 4 6
  • Beclin-1 Associated RUN Domain Containing Protein 3 4
  • SCAR15 3 6
  • Baron 3 4
  • RUN Domain And Cysteine-Rich Domain Containing, Beclin 1-Interacting Protein 3
  • RUN Domain Protein As Beclin 1-Interacting And Cysteine-Rich Containing 3
  • Run Domain Beclin-1 Interacting And Cysteine-Rich Containing Protein 3
  • Run Domain Beclin-1 Interacting And Cystein-Rich Containing Protein 3
  • RUN Domain And Cysteine-Rich Domain Containing 2
  • Beclin 1-Interacting Protein 2
  • Rundataxin 3

External Ids for KIAA0226 Gene

Summaries for KIAA0226 Gene

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 autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to kiaa0226 deficiency and spinocerebellar ataxia, autosomal recessive 15. Among its related pathways are Apoptosis and Autophagy. An important paralog of this gene is KIAA0226L.

UniProtKB/Swiss-Prot for KIAA0226 Gene

  • Negatively regulates endocytic trafficking. Impairs the autophagosome maturation process. May inhibit PIK3C3 activity (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA0226 Gene

Genomics for KIAA0226 Gene

Genomic Location for KIAA0226 Gene

Start:
197,671,388 bp from pter
End:
197,749,845 bp from pter
Size:
78,458 bases
Orientation:
Minus strand

Genomic View for KIAA0226 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KIAA0226 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA0226 Gene

Regulatory Elements for KIAA0226 Gene

Proteins for KIAA0226 Gene

  • Protein details for KIAA0226 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92622-RUBIC_HUMAN
    Recommended name:
    Run domain Beclin-1 interacting and cysteine-rich containing protein
    Protein Accession:
    Q92622
    Secondary Accessions:
    • Q96CK5

    Protein attributes for KIAA0226 Gene

    Size:
    972 amino acids
    Molecular mass:
    108622 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=BAA13215.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA0226 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA0226 Gene

Proteomics data for KIAA0226 Gene at MOPED

Post-translational modifications for KIAA0226 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys50

Other Protein References for KIAA0226 Gene

No data available for DME Specific Peptides for KIAA0226 Gene

Domains for KIAA0226 Gene

Protein Domains for KIAA0226 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

RUBIC_HUMAN
Domain:
  • Contains 1 RUN domain.:
    • Q92622
genes like me logo Genes that share domains with KIAA0226: view

No data available for Gene Families for KIAA0226 Gene

Function for KIAA0226 Gene

Molecular function for KIAA0226 Gene

UniProtKB/Swiss-Prot Function: Negatively regulates endocytic trafficking. Impairs the autophagosome maturation process. May inhibit PIK3C3 activity (By similarity).

Gene Ontology (GO) - Molecular Function for KIAA0226 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19270696
genes like me logo Genes that share ontologies with KIAA0226: view
genes like me logo Genes that share phenotypes with KIAA0226: view

miRNA for KIAA0226 Gene

miRTarBase miRNAs that target KIAA0226

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for KIAA0226 Gene

Localization for KIAA0226 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA0226 Gene

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
Jensen Localization Image for KIAA0226 Gene COMPARTMENTS Subcellular localization image for KIAA0226 gene
Compartment Confidence
endosome 5
lysosome 5
vacuole 5
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for KIAA0226 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005769 early endosome IDA 19270696
GO:0005770 late endosome IDA 19270696
GO:0005794 NOT colocalizes_with Golgi apparatus IDA 19270696
genes like me logo Genes that share ontologies with KIAA0226: view

Pathways for KIAA0226 Gene

SuperPathways for KIAA0226 Gene

Superpath Contained pathways
1 Apoptosis and Autophagy
genes like me logo Genes that share pathways with KIAA0226: view

Pathways by source for KIAA0226 Gene

1 Cell Signaling Technology pathway for KIAA0226 Gene

Gene Ontology (GO) - Biological Process for KIAA0226 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0006914 autophagy IEA --
GO:0008219 cell death --
GO:0010507 negative regulation of autophagy IMP 19270696
GO:0045806 negative regulation of endocytosis IMP 19270696
genes like me logo Genes that share ontologies with KIAA0226: view

Transcripts for KIAA0226 Gene

Unigene Clusters for KIAA0226 Gene

KIAA0226:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0226 Gene

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: -
SP6:
SP7:

Relevant External Links for KIAA0226 Gene

GeneLoc Exon Structure for
KIAA0226
ECgene alternative splicing isoforms for
KIAA0226

Expression for KIAA0226 Gene

mRNA expression in normal human tissues for KIAA0226 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KIAA0226 Gene

SOURCE GeneReport for Unigene cluster for KIAA0226 Gene Hs.478868

genes like me logo Genes that share expressions with KIAA0226: view

Orthologs for KIAA0226 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIAA0226 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA0226 36
  • 98.92 (n)
  • 98.74 (a)
ptr-mir-922 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA0226 36
  • 90.17 (n)
  • 91.55 (a)
KIAA0226 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA0226 36
  • 90.91 (n)
  • 92.9 (a)
KIAA0226 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1700021K19Rik 36
  • 86.31 (n)
  • 87.27 (a)
1700021K19Rik 16
1700021K19Rik 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA0226 37
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0226 37
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1305422 36
  • 85.9 (n)
  • 86.86 (a)
chicken
(Gallus gallus)
Aves KIAA0226 36
  • 74.68 (n)
  • 75.41 (a)
KIAA0226 37
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA0226 37
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0226 36
  • 64.48 (n)
  • 64.96 (a)
zebrafish
(Danio rerio)
Actinopterygii si:ch1073-280h16.1 36
  • 61.61 (n)
  • 60.72 (a)
si:ch1073-280h16.1 37
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG12772 37
  • 30 (a)
OneToOne
BEST:GH12489 38
  • 35 (a)
CG12772 38
  • 39 (a)
Species with no ortholog for KIAA0226:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KIAA0226 Gene

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

Paralogs for KIAA0226 Gene

Paralogs for KIAA0226 Gene

Selected SIMAP similar genes for KIAA0226 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with KIAA0226: view

Variants for KIAA0226 Gene

Sequence variations from dbSNP and Humsavar for KIAA0226 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs937076 -- 197,689,111(+) GCCTC(A/G)ACCTC intron-variant
rs938245 -- 197,688,901(+) TTCAC(C/T)GTAAA intron-variant
rs1314746 -- 197,742,267(-) gatcc(G/T)cccac intron-variant
rs1315983 -- 197,742,230(-) caggc(A/G)tgagc intron-variant
rs1316199 -- 197,742,273(-) tcaag(C/T)gatcc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA0226 Gene

Variant ID Type Subtype PubMed ID
dgv1558e1 CNV Complex 17122850
dgv5377n71 CNV Gain 21882294
dgv1560e1 CNV Complex 17122850
nsv428433 CNV Gain+Loss 18775914
nsv878204 CNV Gain 21882294
dgv1561e1 CNV Complex 17122850
nsv829831 CNV Loss 17160897
nsv508983 CNV Insertion 20534489
esv2726672 CNV Deletion 23290073
esv25937 CNV Loss 19812545
esv2726674 CNV Deletion 23290073
esv2668997 CNV Deletion 23128226
esv995678 CNV Insertion 20482838
esv1514481 CNV Insertion 17803354
nsv236569 CNV Insertion 16902084
esv2663109 CNV Deletion 23128226
nsv878205 CNV Loss 21882294
nsv829832 CNV Loss 17160897
nsv10402 CNV Gain 18304495
esv2751989 CNV Gain 17911159

Relevant External Links for KIAA0226 Gene

HapMap Linkage Disequilibrium report
KIAA0226
Human Gene Mutation Database (HGMD)
KIAA0226

Disorders for KIAA0226 Gene

(1) OMIM Diseases for KIAA0226 Gene (613516)

UniProtKB/Swiss-Prot

RUBIC_HUMAN
  • Spinocerebellar ataxia, autosomal recessive, 15 (SCAR15) [MIM:615705]: Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR15 patients manifest cerebellar ataxia in early childhood and delayed motor development with delayed walking. Additional features include dysarthria, upper limb involvement, abnormal eye movements, and hyporeflexia. {ECO:0000269 PubMed:20826435}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for KIAA0226 Gene

Relevant External Links for KIAA0226

Genetic Association Database (GAD)
KIAA0226
Human Genome Epidemiology (HuGE) Navigator
KIAA0226
genes like me logo Genes that share disorders with KIAA0226: view

Publications for KIAA0226 Gene

  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. (PMID: 9039502) Nagase T. … Nomura N. (DNA Res. 1996) 2 3 4
  2. Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. (PMID: 20826435) Assoum M. … Koenig M. (Brain 2010) 2 3 4
  3. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny D.M. … Gibbs R.A. (Nature 2006) 3 4
  4. Distinct regulation of autophagic activity by Atg14L and Rubicon associated with Beclin 1-phosphatidylinositol-3-kinase complex. (PMID: 19270693) Zhong Y. … Yue Z. (Nat. Cell Biol. 2009) 2 3
  5. Two Beclin 1-binding proteins, Atg14L and Rubicon, reciprocally regulate autophagy at different stages. (PMID: 19270696) Matsunaga K. … Yoshimori T. (Nat. Cell Biol. 2009) 3 4

Products for KIAA0226 Gene

Sources for KIAA0226 Gene

Back to Top

Content