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Aliases for ISY1-RAB43 Gene

Aliases for ISY1-RAB43 Gene

  • ISY1-RAB43 Readthrough 2 3 5

External Ids for ISY1-RAB43 Gene

Previous GeneCards Identifiers for ISY1-RAB43 Gene

  • GC03U901776
  • GC03M128807

Summaries for ISY1-RAB43 Gene

Entrez Gene Summary for ISY1-RAB43 Gene

  • This locus represents naturally occurring read-through transcription between the neighboring ISY1 (ISY1 splicing factor homolog) and RAB43 (RAB43, member RAS oncogene family) gene on chromosome 3. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to a frameshift relative to the downstream gene. [provided by RefSeq, Mar 2011]

GeneCards Summary for ISY1-RAB43 Gene

ISY1-RAB43 (ISY1-RAB43 Readthrough) is a Protein Coding gene. Among its related pathways are mRNA Splicing - Major Pathway. An important paralog of this gene is ISY1.

Additional gene information for ISY1-RAB43 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ISY1-RAB43 Gene

Genomics for ISY1-RAB43 Gene

GeneHancer (GH) Regulatory Elements for ISY1-RAB43 Gene

Promoters and enhancers for ISY1-RAB43 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
GH03I129159 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.3 -324 4.4 PKNOX1 CLOCK ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 ISY1 ISY1-RAB43 RPL32P3 ENSG00000244932 H1FX-AS1 CNBP H1FX ENSG00000273437 GC03M129158 GC03P129797
GH03I129116 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 0.3 +41.2 41151 7.9 HDGF FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 RAB43 KIAA1257 ISY1 GP9 EFCC1 MBD4 ACAD9 RPL32P3 HMCES CNBP
GH03I129112 Enhancer 0.9 Ensembl dbSUPER 0.2 +48.7 48729 0.2 HDAC1 MAX BACH1 CEBPG FEZF1 ZBTB40 ZNF766 ATF7 TRIM24 ZNF197 PIR33900 RAB43 ISY1-RAB43 PIR45850 GC03M129069
GH03I129086 Enhancer 0.9 Ensembl ENCODE dbSUPER 0.2 +73.5 73506 1.9 SAP130 MLX ETV1 REST GP9 ENSG00000187695 RAB43 RPL32P3 GC03M129069 PIR45850 PIR33900 ISY1-RAB43
GH03I129127 Enhancer 0.3 dbSUPER 0.3 +33.3 33337 0.9 ZIC2 PIR40814 PIR52955 ISY1 GP9 ENSG00000273174 ISY1-RAB43
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ISY1-RAB43 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ISY1-RAB43 Gene

Genomic Locations for ISY1-RAB43 Gene
chr3:129,087,569-129,161,230
(GRCh38/hg38)
Size:
73,662 bases
Orientation:
Minus strand
chr3:128,806,412-128,880,073
(GRCh37/hg19)

Genomic View for ISY1-RAB43 Gene

Genes around ISY1-RAB43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ISY1-RAB43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ISY1-RAB43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISY1-RAB43 Gene

Proteins for ISY1-RAB43 Gene

  • Protein details for ISY1-RAB43 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    H9XFA1
    Recommended name:
    ISY1-RAB43
    Protein Accession:
    H9XFA1

    Protein attributes for ISY1-RAB43 Gene

    Size:
    39 amino acids
    Molecular mass:
    4391 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ISY1-RAB43 Gene

Post-translational modifications for ISY1-RAB43 Gene

No Post-translational modifications

Other Protein References for ISY1-RAB43 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ISY1-RAB43 Gene

Domains & Families for ISY1-RAB43 Gene

Gene Families for ISY1-RAB43 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ISY1-RAB43 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ISY1-RAB43: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for ISY1-RAB43 Gene

Function for ISY1-RAB43 Gene

Phenotypes for ISY1-RAB43 Gene

genes like me logo Genes that share phenotypes with ISY1-RAB43: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ISY1-RAB43 Gene

Localization for ISY1-RAB43 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 ISY1-RAB43 gene
Compartment Confidence
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (4)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ISY1-RAB43 Gene

Pathways & Interactions for ISY1-RAB43 Gene

SuperPathways for ISY1-RAB43 Gene

SuperPathway Contained pathways
1 mRNA Splicing - Major Pathway
genes like me logo Genes that share pathways with ISY1-RAB43: view

Pathways by source for ISY1-RAB43 Gene

1 KEGG pathway for ISY1-RAB43 Gene

Interacting Proteins for ISY1-RAB43 Gene

Gene Ontology (GO) - Biological Process for ISY1-RAB43 Gene

None

No data available for SIGNOR curated interactions for ISY1-RAB43 Gene

Drugs & Compounds for ISY1-RAB43 Gene

No Compound Related Data Available

Transcripts for ISY1-RAB43 Gene

mRNA/cDNA for ISY1-RAB43 Gene

(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for ISY1-RAB43 Gene

No ASD Table

Relevant External Links for ISY1-RAB43 Gene

GeneLoc Exon Structure for
ISY1-RAB43
ECgene alternative splicing isoforms for
ISY1-RAB43

Expression for ISY1-RAB43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ISY1-RAB43 Gene

mRNA expression in normal human tissues for ISY1-RAB43 Gene

Evidence on tissue expression from TISSUES for ISY1-RAB43 Gene

  • Lung(4)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with ISY1-RAB43: view

No data available for 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 and Phenotype-based relationships between genes and organs from Gene ORGANizer for ISY1-RAB43 Gene

Orthologs for ISY1-RAB43 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ISY1-RAB43 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ISY1-RAB43 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ISY1 33 34
  • 91.67 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 91 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Isy1 33 16 34
  • 89.32 (n)
rat
(Rattus norvegicus)
Mammalia Isy1 33
  • 88.46 (n)
cow
(Bos Taurus)
Mammalia ISY1 33 34
  • 86.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves ISY1 33
  • 78.33 (n)
-- 34
  • 78 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 88 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia isy1 33
  • 73.88 (n)
zebrafish
(Danio rerio)
Actinopterygii rab43 33 34
  • 75.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9667 33 34
  • 62.17 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004225 33
  • 59.41 (n)
worm
(Caenorhabditis elegans)
Secernentea F53B7.3 33 34
  • 57.31 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISY1 34
  • 30 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G18790 33
  • 55.79 (n)
rice
(Oryza sativa)
Liliopsida Os02g0602500 33
  • 51.79 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 61 (a)
OneToMany
Species where no ortholog for ISY1-RAB43 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ISY1-RAB43 Gene

ENSEMBL:
Gene Tree for ISY1-RAB43 (if available)
TreeFam:
Gene Tree for ISY1-RAB43 (if available)

Paralogs for ISY1-RAB43 Gene

Paralogs for ISY1-RAB43 Gene

(1) SIMAP similar genes for ISY1-RAB43 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ISY1-RAB43: view

Variants for ISY1-RAB43 Gene

Sequence variations from dbSNP and Humsavar for ISY1-RAB43 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000043258 -- 129,138,940(-) C/T intron_variant
rs1000056556 -- 129,127,664(-) G/C intron_variant
rs1000087837 -- 129,095,236(-) C/T intron_variant
rs1000121834 -- 129,120,132(-) G/A intron_variant
rs1000124666 -- 129,112,145(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ISY1-RAB43 Gene

Variant ID Type Subtype PubMed ID
esv2725900 CNV deletion 23290073
esv3435887 CNV insertion 20981092
nsv1073246 CNV deletion 25765185
nsv1131722 CNV deletion 24896259
nsv433217 CNV loss 18776910
nsv474466 CNV novel sequence insertion 20440878
nsv474677 CNV novel sequence insertion 20440878
nsv591650 CNV loss 21841781

Variation tolerance for ISY1-RAB43 Gene

Residual Variation Intolerance Score: 27.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.29; 6.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ISY1-RAB43 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ISY1-RAB43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ISY1-RAB43 Gene

Disorders for ISY1-RAB43 Gene

Additional Disease Information for ISY1-RAB43

No disorders were found for ISY1-RAB43 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ISY1-RAB43 Gene

Publications for ISY1-RAB43 Gene

  1. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58
  2. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3 58
  3. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 58

Products for ISY1-RAB43 Gene

Sources for ISY1-RAB43 Gene

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