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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

(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

(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.

(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

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Epigenetics:

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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 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.,
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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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(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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, 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 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

SuperPath

Contained pathways About

mRNA Splicing - Major Pathway

Spliceosome

0.31

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 Central^TM Interacting Genes and Proteins Networks for ISY1-RAB43

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

Browse Small Molecules at EMD Millipore

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Search CenterWatch for drugs/clinical trials and news about ISY1-RAB43

(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,
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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)

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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™, 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: --

About this image

SABiosciences Custom PCR Arrays for ISY1-RAB43

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In Situ
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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)
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	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)	78.49(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 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

(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

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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

(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

Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PubMed id 20967262)¹ Prakash T....Taylor T.D. (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. (1999)

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

		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)
About This Section

Entrez Gene: 100534599	HGNC: 42969	Ensembl:ENSG00000261796	euGenes: HUgn100534599	ECgene: ISY1-RAB43	Kegg: 100534599
H-InvDB: ISY1-RAB43

(According to HUGE)
About This Section

(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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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About This Section


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ISY1-RAB43 Gene

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ISY1-RAB43 Gene

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