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ISY1-RAB43 Gene

protein-coding   GIFtS: 25
GCID: GC03M128807

ISY1-RAB43 Readthrough
  See related disease
at
MalaCards
 

Aliases
for ISY1-RAB43 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ISY1-RAB43 Readthrough1 2
ISY1-RAB43 Protein2

External Ids:    HGNC: 429691   Entrez Gene: 1005345992   Ensembl: ENSG000002617967   UniProtKB: H9XFA14   

Export aliases for ISY1-RAB43 gene to outside databases

Previous GC identifer: GC03U901776


Summaries
for ISY1-RAB43 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Diseases associated with ISY1-RAB43 include malaria. An important paralog of this gene is ISY1.




Genomic Views
for ISY1-RAB43 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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TryGeneCards Plus		 Regulatory elements:
   Search for regulatory transcription factor binding sites for ISY1-RAB43
         Other transcription factors

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   Search Chromatin IP Primers for ISY1-RAB43

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ISY1-RAB43


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q   Ensembl cytogenetic band:  3q21.3   HGNC cytogenetic band: 3q21.3

ISY1-RAB43 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ISY1-RAB43 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M128807:  view genomic region     (about GC identifiers)

Start:
 128,806,412 bp from pter      End:
 128,880,073 bp from pter
Size:
 73,662 bases      Orientation:
 minus strand

Proteins
for ISY1-RAB43 gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/TrEMBL: H9XFA1 (See protein sequence)
Recommended Name: ISY1-RAB43  
Size: 39 amino acids; 4391 Da

REFSEQ proteins: NP_001191819.1  
ENSEMBL proteins: 
 ENSP00000411822  

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Domains /
Families
for ISY1-RAB43 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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TryGeneCards Plus		 1 InterPro protein domain:
 IPR009360 Isy1

Graphical View of Domain Structure for InterPro Entry H9XFA1

ProtoNet protein and cluster: H9XFA1


ISY1-RAB43 for domains           About GeneDecksing


Function
for ISY1-RAB43 gene

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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miRNA
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Selected qRT-PCR Assays for microRNAs that regulate ISY1-RAB43 (see all 34):
hsa-miR-4307 hsa-miR-15a hsa-miR-342-3p hsa-miR-507 hsa-miR-105 hsa-miR-4267 hsa-miR-124 hsa-miR-424
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Cell Line
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Localization
for ISY1-RAB43 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Pathways & Interactions
for ISY1-RAB43 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for ISY1-RAB43 About                                                                                                See pathways by source

SuperPathContained pathways About
1Spliceosome
Spliceosome

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



1 Kegg Pathway  (Kegg details for ISY1-RAB43):
    Spliceosome


ISY1-RAB43 for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ISY1-RAB43
Interactions:

    Search GeneGlobe Interaction Network for ISY1-RAB43

Drugs & Compounds
for ISY1-RAB43 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for ISY1-RAB43



Transcripts
for ISY1-RAB43 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for ISY1-RAB43 gene: 
NM_001204890.1  

1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000418265(uc003elo.2)
miRNA
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Selected qRT-PCR Assays for microRNAs that regulate ISY1-RAB43 (see all 34):
hsa-miR-4307 hsa-miR-15a hsa-miR-342-3p hsa-miR-507 hsa-miR-105 hsa-miR-4267 hsa-miR-124 hsa-miR-424
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Inhib. RNA
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Primer
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GeneLoc Exon Structure


Expression
for ISY1-RAB43 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ISY1-RAB43 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
ISY1-RAB43 Expression
About this image

ISY1-RAB43 Protein expression data from MOPED1, PaxDb2 and MaxQB3:  --
    Custom PCR Arrays for ISY1-RAB43
Primer
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In Situ
Assay Products: 
 		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ISY1-RAB43

Orthologs
for ISY1-RAB43 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)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for ISY1-RAB43 gene from Selected species (see all 18)    About this table
Organism Taxonomic
classification		 Gene Description Human
Similarity		 Orthology
Type		 Details
mouse
(Mus musculus)		 Mammalia Isy11 , 5 ISY1 splicing factor homolog (S. cerevisiae)1, 5 89.32(n)1
98.24(a)1		   6 (39.13 cM)5
579051  NM_133934.41  NP_598695.11 
 878184475 
chicken
(Gallus gallus)		 Aves ISY11 ISY1 splicing factor homolog (S. cerevisiae) 78.33(n)
90(a)		   415968  XM_414311.2  XP_414311.1 
lizard
(Anolis carolinensis)		 Reptilia --
 Uncharacterized protein
 88(a)
 1 → many
 2(159117262-159161392)
tropical clawed frog
(Xenopus tropicalis)		 Amphibia isy11 ISY1 splicing factor homolog 73.88(n)
84.4(a)		   394618  NM_203691.1  NP_989022.1 
zebrafish
(Danio rerio)		 Actinopterygii rab431 RAB43, member RAS oncogene family 75.59(n)
82.39(a)		   570205  NM_001083563.1  NP_001077032.1 
fruit fly
(Drosophila melanogaster)		 Insecta CG96671 CG9667 62.17(n)
62.55(a)		   40960  NM_141511.2  NP_649768.2 
worm
(Caenorhabditis elegans)		 Secernentea F53B7.31 F53B7.3 57.31(n)
51.92(a)		   179524  NM_073402.4  NP_505803.1 
baker's yeast
(Saccharomyces cerevisiae)		 Saccharomycetes ISY16
 Member of NineTeen Complex (NTC) that contains Prp...
 30(a)
 1 → many
 X(528697-529404) YJR050W
thale cress
(Arabidopsis thaliana)		 eudicotyledons AT3G187901 AT3G18790 55.79(n)
51.23(a)		   821412  NM_112765.3  NP_188509.1 
rice
(Oryza sativa)		 Liliopsida Os02g06025001 Os02g0602500 51.79(n)
45.83(a)		   4329902  NM_001053893.1  NP_001047358.2 


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

Paralogs
for ISY1-RAB43 gene

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for ISY1-RAB43 gene
ISY12  
1 SIMAP similar gene for ISY1-RAB43 using alignment to 1 protein entry:     H9XFA1_HUMAN:
ISY1

ISY1-RAB43 for paralogs           About GeneDecksing



Genomic Variants
for ISY1-RAB43 gene

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ISY1-RAB43 (see all 50)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance		Chr 3 posSequence#AA
Chg		TypeMore#Allele
freq		PopTotal
sample		More
----------
rs1814474681,2
--128843017(+) GCTCTA/GTCACC 1 -- int10--------
rs1861552111,2
--128843053(+) TCGGCC/TCACTG 1 -- int10--------
rs1510906651,2
C--128843272(+) CCGCA-/CCCCGG 1 -- int10--------
rs622653341,2
C--128843456(+) TAGCCA/GGGTGT 1 -- int13Minor allele frequency- G:0.00NA WA 6
rs1922201111,2
--128843468(+) TTGGCC/TGGCGC 1 -- int10--------
rs1840023921,2
--128843506(+) GGCAGA/GAGAAT 1 -- int10--------
rs1860660551,2
--128843590(+) GAGACA/TCTGTC 1 -- int10--------
rs1465222431,2
C--128843689(+) CCAGG-/ATGGAG 1 -- int10--------
rs1488230151,2
--128843836(+) GTTGGC/TCAGGC 1 -- int10--------
rs1909343211,2
--128844003(+) GGCGCA/GATCTC 1 -- int10--------

HapMap Linkage Disequilibrium report for ISY1-RAB43 (128806412 - 128880073 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for ISY1-RAB43:    About this table    
Variant IDTypeSubtypePubMed ID
esv2725900CNV Deletion23290073
dgv5251n71CNV Loss21882294
nsv877471CNV Loss21882294
nsv433217CNV Loss18776910
dgv5252n71CNV Loss21882294
dgv5253n71CNV Gain+Loss21882294

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Disorders / Diseases
for ISY1-RAB43 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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TryGeneCards Plus		 1 disease for ISY1-RAB43:    About MalaCards
malaria


ISY1-RAB43 for disorders           About GeneDecksing


Export disorders for ISY1-RAB43 gene to outside databases

Publications
for ISY1-RAB43 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)
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PubMed articles for ISY1-RAB43 gene integrated from 10 sources:
(articles sorted by number of sources associating them with ISY1-RAB43)		    Utopia: connect your pdf to the dynamic
world of online information

  1. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PubMed id 20967262)1 Prakash T....Taylor T.D. (PLoS ONE 2010)
  2. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1 Hirosawa M.... Ohara O. (DNA Res. 1999)

External Searches for ISY1-RAB43 gene

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  
  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

Genome Databases showing ISY1-RAB43 gene

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 100534599 HGNC: 42969 Ensembl:ENSG00000261796 euGenes: HUgn100534599 ECgene: ISY1-RAB43 Kegg: 100534599
H-InvDB: ISY1-RAB43

Other Databases showing ISY1-RAB43 gene

(According to HUGE)
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Specialized Databases showing ISY1-RAB43 gene

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Intellectual Property
for ISY1-RAB43 gene

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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TryGeneCards Plus		Patent Information for ISY1-RAB43 gene:
Search GeneIP for patents involving ISY1-RAB43

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



Products
for ISY1-RAB43 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Biologicals
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 Search for Antibodies for ISY1-RAB43 at Abcam
 See all of Abcam's Antibodies, Kits and Proteins for ISY1-RAB43
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 Browse ESI BIO Cell Lines and PureStem Progenitors for ISY1-RAB43
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 Browse SwitchGear 3'UTR luciferase reporter plasmids for ISY1-RAB43
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 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ISY1-RAB43
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ISY1-RAB43
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ISY1-RAB43
 Search LSBio for Antibodies for ISY1-RAB43
Customized transgenic rodents for:
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