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Aliases for RUBCNL Gene

Aliases for RUBCNL Gene

  • RUN And Cysteine Rich Domain Containing Beclin 1 Interacting Protein Like 2 3 5
  • KIAA0226 Like 2 3
  • KIAA0226L 3 4
  • C13orf18 3 4
  • Chromosome 13 Open Reading Frame 18 2
  • Protein RUBCNL-Like 3

External Ids for RUBCNL Gene

Previous HGNC Symbols for RUBCNL Gene

  • C13orf18
  • KIAA0226L

Summaries for RUBCNL Gene

Entrez Gene Summary for RUBCNL Gene

  • This gene encodes a cysteine-rich protein that contains a putative zinc-RING and/or ribbon domain. The encoded protein is related to Run domain Beclin-1-interacting and cysteine-rich domain-containing protein, which plays a role in endocytic trafficking and autophagy. In cervical cancer cell lines, this gene is expressed at low levels and may function as a tumor suppressor. Promoter hypermethylation of this gene is observed in cervical cancer cell lines and tissue derived from human patients. [provided by RefSeq, Mar 2017]

GeneCards Summary for RUBCNL Gene

RUBCNL (RUN And Cysteine Rich Domain Containing Beclin 1 Interacting Protein Like) is a Protein Coding gene. An important paralog of this gene is RUBCN.

UniProtKB/Swiss-Prot for RUBCNL Gene

  • May act as a tumor suppressor.

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

Genomics for RUBCNL Gene

Regulatory Elements for RUBCNL Gene

Enhancers for RUBCNL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G046163 1.7 FANTOM5 ENCODE dbSUPER 8.4 +263.4 263394 21.8 HDGF PKNOX1 FOXA2 WRNIP1 SIN3A ZNF2 YY1 ZNF766 ZNF143 FOS LCP1 RNU2-6P RUBCNL LRRC63 TPT1-AS1 ZC3H13 RN7SL288P LOC105370192
GH13G046551 1.7 FANTOM5 ENCODE dbSUPER 7 -115.9 -115940 4.4 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF263 SP3 REST LRCH1 RUBCNL LINC01198 LCP1 GC13P046577
GH13G046403 1.5 FANTOM5 Ensembl ENCODE dbSUPER 7.4 +33.5 33450 2.3 CTCF PKNOX1 RFX1 ZNF341 MAX ETV6 MYC SPI1 OR7E101P LCP1 RNU2-6P LINC01198 RUBCNL ZC3H13 GC13P046411 GC13P046380
GH13G046604 1.5 Ensembl ENCODE dbSUPER 6.3 -169.1 -169071 6.2 PKNOX1 FOXA2 MLX WRNIP1 FEZF1 DMAP1 ZNF48 SLC30A9 ZNF766 ELK1 LRCH1 RNU2-6P RUBCNL GC13P046617 GC13P046577
GH13G046159 1.6 FANTOM5 Ensembl ENCODE dbSUPER 5.8 +277.1 277136 3.1 CTCF PKNOX1 MAX RAD21 YY1 POLR2A ZNF143 SMC3 MIXL1 STAT1 LCP1 RUBCNL ZC3H13 RN7SL288P ENSG00000278937
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RUBCNL on UCSC Golden Path with GeneCards custom track

Genomic Location for RUBCNL Gene

Chromosome:
13
Start:
46,342,000 bp from pter
End:
46,438,190 bp from pter
Size:
96,191 bases
Orientation:
Minus strand

Genomic View for RUBCNL Gene

Genes around RUBCNL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RUBCNL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RUBCNL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RUBCNL Gene

Proteins for RUBCNL Gene

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

    Protein Symbol:
    Q9H714-RUBCL_HUMAN
    Recommended name:
    Protein RUBCNL-like
    Protein Accession:
    Q9H714
    Secondary Accessions:
    • A8KAG9
    • A8XR19
    • B3KS87
    • Q5W051
    • Q5W053
    • Q6PJ74
    • Q6PK94
    • Q86XH7
    • Q8N5J6

    Protein attributes for RUBCNL Gene

    Size:
    662 amino acids
    Molecular mass:
    73457 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Weak expression in cervical carcinoma cell lines is associated with RUBCNL promoter hypermethylation.

    Alternative splice isoforms for RUBCNL Gene

neXtProt entry for RUBCNL Gene

Post-translational modifications for RUBCNL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RUBCNL Gene

Domains & Families for RUBCNL Gene

Protein Domains for RUBCNL Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RUBCNL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RUBCNL: view

No data available for Gene Families and UniProtKB/Swiss-Prot for RUBCNL Gene

Function for RUBCNL Gene

Molecular function for RUBCNL Gene

UniProtKB/Swiss-Prot Function:
May act as a tumor suppressor.
UniProtKB/Swiss-Prot Induction:
Up-regulated by epigenetic drugs, such as azacitidine, and artificial transcritpion factors (ATFs)-induced treatments in cervical carcinoma cell lines.
genes like me logo Genes that share phenotypes with RUBCNL: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RUBCNL Gene

Localization for RUBCNL Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RUBCNL gene
Compartment Confidence
cytosol 3
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for RUBCNL Gene

Pathways & Interactions for RUBCNL Gene

SuperPathways for RUBCNL Gene

No Data Available

Interacting Proteins for RUBCNL Gene

Gene Ontology (GO) - Biological Process for RUBCNL Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RUBCNL Gene

Transcripts for RUBCNL Gene

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for RUBCNL Gene

GeneLoc Exon Structure for
RUBCNL
ECgene alternative splicing isoforms for
RUBCNL

Expression for RUBCNL Gene

NURSA nuclear receptor signaling pathways regulating expression of RUBCNL Gene:

RUBCNL

mRNA Expression by UniProt/SwissProt for RUBCNL Gene:

Q9H714-RUBCL_HUMAN
Tissue specificity: Expressed weakly in cervical carcinoma cell lines.

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for RUBCNL Gene

Orthologs for RUBCNL Gene

This gene was present in the common ancestor of chordates.

Orthologs for RUBCNL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA0226L 34 35
  • 99.35 (n)
dog
(Canis familiaris)
Mammalia KIAA0226L 34 35
  • 83.23 (n)
cow
(Bos Taurus)
Mammalia KIAA0226L 34 35
  • 80.38 (n)
mouse
(Mus musculus)
Mammalia 5031414D18Rik 34 35
  • 73.04 (n)
Rubcnl 16
rat
(Rattus norvegicus)
Mammalia RGD1304929 34
  • 72.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0226L 35
  • 55 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA0226L 35
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0226L 34 35
  • 65.86 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15213 34
zebrafish
(Danio rerio)
Actinopterygii si:ch211-260b17.6 35
  • 55 (a)
OneToOne
Species where no ortholog for RUBCNL was found in the sources mined by GeneCards:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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 RUBCNL Gene

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

Paralogs for RUBCNL Gene

Paralogs for RUBCNL Gene

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

Variants for RUBCNL Gene

Sequence variations from dbSNP and Humsavar for RUBCNL Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs193920942 Uncertain significance 46,359,610(-) GTGTC(C/T)GAAAA reference, stop-gained
rs1000060757 -- 46,369,859(+) GCTTC(A/C/G)TGTTC intron-variant
rs1000182616 -- 46,387,381(+) GCAGG(C/T)ACCGA intron-variant, utr-variant-5-prime
rs1000191484 -- 46,346,002(+) TCAGC(C/G)TTATG intron-variant
rs1000244009 -- 46,345,644(+) CCACA(C/G/T)AGAGG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv223e201 CNV deletion 23290073
esv3631982 CNV loss 21293372
esv3631983 CNV loss 21293372
esv3631985 CNV loss 21293372
esv3631986 CNV loss 21293372
nsv1045198 CNV gain 25217958
nsv455876 CNV gain 19166990
nsv561581 CNV gain 21841781

Variation tolerance for RUBCNL Gene

Residual Variation Intolerance Score: 93.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.74; 83.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RUBCNL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RUBCNL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RUBCNL Gene

Disorders for RUBCNL Gene

Relevant External Links for RUBCNL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RUBCNL

No disorders were found for RUBCNL Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RUBCNL Gene

Publications for RUBCNL Gene

  1. Functional validation of putative tumor suppressor gene C13ORF18 in cervical cancer by Artificial Transcription Factors. (PMID: 23522960) Huisman C. … Rots M.G. (Mol Oncol 2013) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Discovery of new methylation markers to improve screening for cervical intraepithelial neoplasia grade 2/3. (PMID: 26962367) Boers A. … Wisman G.B. (Clin Epigenetics 2016) 3 64

Products for RUBCNL Gene

Sources for RUBCNL Gene

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