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ISY1-RAB43 Gene

protein-coding GIFtS: 25
GCID: GC03M128807

ISY1-RAB43 Readthrough

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disease database

(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

(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. An important paralog of this gene is ISY1.

(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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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

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
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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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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:

IPR009360 Isy1

Graphical View of Domain Structure for InterPro Entry H9XFA1

ProtoNet protein and cluster: H9XFA1

Find genes that share domains with ISY1-RAB43 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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(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

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SuperPath

Contained pathways About

Spliceosome

Spliceosome

Find genes that share SuperPaths with ISY1-RAB43 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

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

Spliceosome

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Interactions:

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(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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(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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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)

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GeneLoc Exon Structure

(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: --

About this image

ISY1-RAB43 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

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(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	Isy1^{1 , 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 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

Find genes that share paralogs with ISY1-RAB43 About GenesLikeMe

(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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SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs181447468^1,2		--	128843017(+)	`GCTCTA/GTCACC`	1	--	int¹		0	--	--	--	--
rs186155211^1,2		--	128843053(+)	`TCGGCC/TCACTG`	1	--	int¹		0	--	--	--	--
rs151090665^1,2	C	--	128843272(+)	`CCGCA-/CCCCGG`	1	--	int¹		0	--	--	--	--
rs62265334^1,2	C	--	128843456(+)	`TAGCCA/GGGTGT`	1	--	int¹		3		NA WA	6
rs192220111^1,2		--	128843468(+)	`TTGGCC/TGGCGC`	1	--	int¹		0	--	--	--	--
rs184002392^1,2		--	128843506(+)	`GGCAGA/GAGAAT`	1	--	int¹		0	--	--	--	--
rs186066055^1,2		--	128843590(+)	`GAGACA/TCTGTC`	1	--	int¹		0	--	--	--	--
rs146522243^1,2	C	--	128843689(+)	`CCAGG-/ATGGAG`	1	--	int¹		0	--	--	--	--
rs148823015^1,2		--	128843836(+)	`GTTGGC/TCAGGC`	1	--	int¹		0	--	--	--	--
rs190934321^1,2		--	128844003(+)	`GGCGCA/GATCTC`	1	--	int¹		0	--	--	--	--

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 ID	Type	Subtype	PubMed ID
esv2725900	CNV	Deletion	23290073
dgv5251n71	CNV	Loss	21882294
nsv877471	CNV	Loss	21882294
nsv433217	CNV	Loss	18776910
dgv5252n71	CNV	Loss	21882294
dgv5253n71	CNV	Gain+Loss	21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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(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

Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PubMed id 20967262)¹ Prakash T....Taylor T.D. (PLoS ONE 2010)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

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

(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

(According to HUGE)
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(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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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

(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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ISY1-RAB43

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genOway: Develop your customized and physiologically relevant rodent model for ISY1-RAB43

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ISY1-RAB43 Gene

ISY1-RAB43 Readthrough

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ISY1-RAB43 Gene

ISY1-RAB43 Readthrough

Aliasesfor ISY1-RAB43 gene

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Proteinsfor ISY1-RAB43 gene

ISY1-RAB43 Human Recombinant Protein Products:

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Expression for ISY1-RAB43 gene

Orthologsfor ISY1-RAB43 gene

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Disorders / Diseasesfor ISY1-RAB43 gene

Publicationsfor ISY1-RAB43 gene

External Searches for ISY1-RAB43 gene

Genome Databases showing ISY1-RAB43 gene

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for ISY1-RAB43 gene

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for ISY1-RAB43 gene

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for ISY1-RAB43 gene

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for ISY1-RAB43 gene

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for ISY1-RAB43 gene

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for ISY1-RAB43 gene

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for ISY1-RAB43 gene

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for ISY1-RAB43 gene

Transcripts
for ISY1-RAB43 gene

Expression
for ISY1-RAB43 gene

Orthologs
for ISY1-RAB43 gene

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for ISY1-RAB43 gene

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for ISY1-RAB43 gene

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for ISY1-RAB43 gene

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