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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ISY1-RAB43 Gene

protein-coding   GIFtS: 25
GCID: GC03M128807

ISY1-RAB43 Readthrough
  Search for ISY1-RAB43
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)
About This Section
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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 super-pathways are mRNA Splicing - Major Pathway. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
 Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ISY1-RAB43
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB/TrEMBL: H9XFA1 (See protein sequence)
Recommended Name: ISY1-RAB43  
Size: 39 amino acids; 4391 Da

ISY1-RAB43 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

REFSEQ proteins: NP_001191819.1  
ENSEMBL proteins: 
 ENSP00000411822  

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Protein Domains /
Families
for ISY1-RAB43 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section
Animal Models:
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Pathways & Interactions
for ISY1-RAB43 gene

(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for ISY1-RAB43 About                                                                                                See pathways by source

SuperPathContained pathways About
1mRNA Splicing - Major Pathway
Spliceosome0.31

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



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


ISY1-RAB43 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ISY1-RAB43

Drugs & Compounds
for ISY1-RAB43 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ISY1-RAB43

Search CenterWatch for drugs/clinical trials and news about 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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section
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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Inhib. RNA
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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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

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

    SABiosciences Custom PCR Arrays for ISY1-RAB43
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In Situ
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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)
About This Section
This gene was present in the common ancestor of eukaryotes.

Orthologs for ISY1-RAB43 gene from 9/21 species (see all 21)    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) 78.49(n)
90.32(a)		   415968  XM_414311.1  XP_414311.1 
lizard
(Anolis carolinensis)		 Reptilia --
 --
 88(a)
 1 → many
 2(159117262-159161392)
zebrafish
(Danio rerio)		 Actinopterygii rab431 RAB43, member RAS oncogene family 75.74(n)
82.69(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 Protein F53B7.3 57.47(n)
51.34(a)		   179524  NM_073402.3  NP_505803.1 
baker's yeast
(Saccharomyces cerevisiae)		 Saccharomycetes ISY11 Isy1p 49.11(n)
37.4(a)		   853509   NP_012584.3 
thale cress
(Arabidopsis thaliana)		 eudicotyledons AT3G187901 pre-mRNA-splicing factor ISY1 57.31(n)
53.6(a)		   821412  NM_112765.3  NP_188509.1 
rice
(Oryza sativa)		 Liliopsida Os02g06025001 hypothetical protein 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)
About This Section
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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/50 SNPs in ISY1-RAB43 are shown (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.)
About This Section
   --

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)
About This Section

PubMed articles for ISY1-RAB43 gene integrated from 9 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. (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. (1999)

External Searches for ISY1-RAB43 gene

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
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)
About This Section
   --

Specialized Databases showing ISY1-RAB43 gene

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
   --

Intellectual Property
for ISY1-RAB43 gene

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
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
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About This Section

 
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