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Aliases for PAX6-AS1 Gene

Subcategory (RNA class) for PAX6-AS1 Gene

non-coding RNA

Quality Score for this RNA gene is

3

Aliases for PAX6-AS1 Gene

  • PAX6 Antisense RNA 1 2 3
  • RCN1 4 5
  • Reticulocalbin 1 5
  • DKFZp686K1684 3
  • RCN 4

External Ids for PAX6-AS1 Gene

Summaries for PAX6-AS1 Gene

GeneCards Summary for PAX6-AS1 Gene

PAX6-AS1 (PAX6 Antisense RNA 1) is an RNA Gene, and is affiliated with the non-coding RNA class. An important paralog of this gene is CALU.

UniProtKB/Swiss-Prot for PAX6-AS1 Gene

  • May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment.

Additional gene information for PAX6-AS1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAX6-AS1 Gene

Genomics for PAX6-AS1 Gene

GeneHancer (GH) Regulatory Elements for PAX6-AS1 Gene

Promoters and enhancers for PAX6-AS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I031809 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.0 46 7.8 PKNOX1 FOXA2 SIN3A FEZF1 ZNF2 E2F8 FOS REST SMARCB1 CBX8 PAX6-AS1 RCN1 PAX6 GC11P031817
GH11I032136 Enhancer 1 Ensembl ENCODE 10.6 +325.0 324959 2 IRF4 BRCA1 RFX5 ZEB1 ZNF335 SCRT2 RCOR1 ATF7 FOS IKZF2 RCN1 EIF4A2P5 ENSG00000212551 LOC101928385 PAX6-AS1 LOC100506675 ENSG00000255375 GC11M032121 THEM7P
GH11I032160 Enhancer 0.5 dbSUPER 11.3 +350.7 350658 5.9 OSR2 CBX8 POLR2A SCRT2 ZBTB17 RCN1 LOC101928385 EIF4A2P5 ENSG00000212551 PAX6-AS1 ENSG00000255252 LOC100506675 GC11M032121 ENSG00000255375 THEM7P
GH11I032166 Enhancer 0.5 dbSUPER 10.8 +356.5 356507 5.5 GATA3 USF1 ZNF547 ZNF24 RCN1 LOC101928385 ENSG00000255252 EIF4A2P5 ENSG00000212551 PAX6-AS1 LOC100506675 IMMP1L GC11M032121 ENSG00000255375
GH11I031788 Enhancer 0.4 UCNEbase 10.9 -23.3 -23285 0.4 PAX6-AS1 RCN1 PAX6 GC11P031784 ELP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PAX6-AS1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PAX6-AS1 Gene

Genomic Locations for PAX6-AS1 Gene
chr11:31,812,391-32,105,755
(GRCh38/hg38)
Size:
293,365 bases
Orientation:
Plus strand
chr11:31,838,114-31,908,587
(GRCh37/hg19)

Genomic View for PAX6-AS1 Gene

Genes around PAX6-AS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAX6-AS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAX6-AS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAX6-AS1 Gene

Proteins for PAX6-AS1 Gene

  • Protein details for PAX6-AS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15293-RCN1_HUMAN
    Recommended name:
    Reticulocalbin-1
    Protein Accession:
    Q15293
    Secondary Accessions:
    • B7Z1M1
    • D3DR00

    Protein attributes for PAX6-AS1 Gene

    Size:
    331 amino acids
    Molecular mass:
    38890 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • This protein has four functional calcium-binding sites; potential sites II and VI have lost affinity for calcium.

    Alternative splice isoforms for PAX6-AS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAX6-AS1 Gene

Post-translational modifications for PAX6-AS1 Gene

  • Ubiquitination at isoforms=70, isoforms=2105, Lys122, isoforms=2141, and isoforms=2176
  • Glycosylation at isoforms=53

Other Protein References for PAX6-AS1 Gene

No data available for DME Specific Peptides for PAX6-AS1 Gene

Domains & Families for PAX6-AS1 Gene

Protein Domains for PAX6-AS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15293

UniProtKB/Swiss-Prot:

RCN1_HUMAN :
  • Belongs to the CREC family.
Family:
  • Belongs to the CREC family.
genes like me logo Genes that share domains with PAX6-AS1: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for PAX6-AS1 Gene

Function for PAX6-AS1 Gene

Molecular function for PAX6-AS1 Gene

UniProtKB/Swiss-Prot Function:
May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment.

Phenotypes From GWAS Catalog for PAX6-AS1 Gene

Gene Ontology (GO) - Molecular Function for PAX6-AS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding TAS --
GO:0005515 protein binding IPI --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PAX6-AS1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PAX6-AS1 Gene

Localization for PAX6-AS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAX6-AS1 Gene

Endoplasmic reticulum lumen.

Gene Ontology (GO) - Cellular Components for PAX6-AS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with PAX6-AS1: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for PAX6-AS1 Gene

Pathways & Interactions for PAX6-AS1 Gene

SuperPathways for PAX6-AS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PAX6-AS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043010 camera-type eye development IEA --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with PAX6-AS1: view

No data available for Pathways by source and SIGNOR curated interactions for PAX6-AS1 Gene

Drugs & Compounds for PAX6-AS1 Gene

No Compound Related Data Available

Transcripts for PAX6-AS1 Gene

mRNA/cDNA for PAX6-AS1 Gene

(1) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for PAX6-AS1 Gene

No ASD Table

Relevant External Links for PAX6-AS1 Gene

GeneLoc Exon Structure for
PAX6-AS1
ECgene alternative splicing isoforms for
PAX6-AS1

Expression for PAX6-AS1 Gene

No Expression Related Data Available

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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PAX6-AS1 Gene

Orthologs for PAX6-AS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAX6-AS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RCN1 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RCN1 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RCN1 34
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rcn1 34
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RCN1 34
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RCN1 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves RCN1 34
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RCN1 34
  • 78 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rcn1 34
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta scf 34
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea calu-1 34
  • 46 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 55 (a)
ManyToMany
-- 34
  • 46 (a)
ManyToMany
CSA.6945 34
  • 42 (a)
ManyToMany
Species where no ortholog for PAX6-AS1 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)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PAX6-AS1 Gene

ENSEMBL:
Gene Tree for PAX6-AS1 (if available)
TreeFam:
Gene Tree for PAX6-AS1 (if available)

Paralogs for PAX6-AS1 Gene

Paralogs for PAX6-AS1 Gene

Pseudogenes.org Pseudogenes for PAX6-AS1 Gene

genes like me logo Genes that share paralogs with PAX6-AS1: view

Variants for PAX6-AS1 Gene

Sequence variations from dbSNP and Humsavar for PAX6-AS1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000041362 -- 31,818,024(+) C/A intron_variant
rs1000071746 -- 31,879,726(+) A/C intron_variant
rs1000079323 -- 31,824,966(+) A/C intron_variant
rs1000149151 -- 31,842,375(+) TTTTTTTT/TTTTTTTTT intron_variant
rs1000170697 -- 31,839,686(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PAX6-AS1 Gene

Variant ID Type Subtype PubMed ID
nsv825815 CNV gain 20364138
nsv7728 CNV deletion 18451855
esv3625843 CNV gain 21293372
esv3625842 CNV gain 21293372
esv3625841 CNV loss 21293372
esv3625840 CNV gain 21293372
esv2660764 CNV deletion 23128226

Additional Variant Information for PAX6-AS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAX6-AS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for PAX6-AS1 Gene

Disorders for PAX6-AS1 Gene

No disorders were found for PAX6-AS1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PAX6-AS1 Gene

Publications for PAX6-AS1 Gene

  1. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4 58
  2. A Single Kinase Generates the Majority of the Secreted Phosphoproteome. (PMID: 26091039) Tagliabracci VS … Dixon JE (Cell 2015) 4 58
  3. Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. (PMID: 23319000) Luykx JJ … Ophoff RA (Molecular psychiatry 2014) 3 58
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 58
  5. Meta-analysis identifies common variants associated with body mass index in east Asians. (PMID: 22344219) Wen W … Shu XO (Nature genetics 2012) 3 58

Products for PAX6-AS1 Gene

Sources for PAX6-AS1 Gene

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