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RAB43 Gene

protein-coding GIFtS: 51

GC03M130289

RAB43, member RAS oncogene family
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
ISY1 ^¹, ²
MGC90481 ^²
OTTHUMP00000174306 ^²
OTTHUMP00000174307 ^²
OTTHUMP00000174308 ^²
OTTHUMP00000174309 ^²
RAB11B ^¹, ²
RAB41 ^¹, ², ³

Descriptions
RAB43 protein ^²
RAB43, member RAS oncogene family ^²
Ras-related protein Rab-41 ^³

External Ids
HGNC: 19983¹
Entrez Gene: 339122²
UniProtKB: Q86YS6³
Ensembl: ENSG00000172780⁷

Search outside databases for aliases for RAB43 gene

Previous GC identifers: GC03M130130 GC03M130128

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the RAB43 gene

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

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

GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M130289: (about GC identifiers)

Start:	130,289,102 bp from pter
End:	130,323,683 bp from pter
Size:	34,582 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000003.10 NT_005612.15

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: RAB43_HUMAN, Q86YS6 (See protein sequence)

Recommended Name: Ras-related protein Rab-43

Size: 212 amino acids; 23339 Da

Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)

PDB structures from and Proteopedia :

2HUP (3D)

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_940892.1

ENSEMBL proteins:

ENSP00000376981 ENSP00000376985 ENSP00000376984 ENSP00000376982 ENSP00000319781

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich AQUA Peptides for RAB43
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (RAB43)
	Human Recombinant Proteins from Abnova (RAB43)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	IEA	--

About this table

Antibodies for RAB43:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for RAB43
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (RAB43), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (RAB43)
	Novus Biologicals Antibodies for RAB43

Assays for RAB43:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry Q86YS6

ProtoNet protein and cluster: Q86YS6

2 Blocks protein families:

IPB001806 Transforming protein P21 RAS signature

IPB002041 GTP-binding nuclear protein Ran

UniProtKB/Swiss-Prot: RAB43_HUMAN, Q86YS6

Similarity: Belongs to the small GTPase superfamily. Rab family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (RAB43)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (RAB43)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): XM_290714

Applied Biosystems Silencer® siRNAs for RAB43

Sigma-Aldrich siRNA for RAB43

Sigma-Aldrich shRNA for RAB43

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for RAB43
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_198490
Myc/DDK tagged cDNA clone in CMV expression vector: NM_198490
untagged cDNA clone in CMV expression vector: NM_198490

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_198490

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0005525	GTP binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007264	small GTPase mediated signal transduction	IEA	--
GO:0015031	protein transport	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for RAB43

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for RAB43

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (RAB43)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (RAB43)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): XM_290714

Sigma-Aldrich siRNA for RAB43

Sigma-Aldrich shRNA for RAB43

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_198490

REFSEQ mRNAs for RAB43 gene:

NM_198490.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_198490

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_198490
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_198490
                                 untagged cDNA clone in CMV expression vector: NM_198490

Additional cDNA sequence:

AK128345.1 AK291014.1 AY166852.2 BC062319.1 BC073812.1 CR596493.1 CR607147.1 CR620019.1

D45418.1

10 DOTS entries:

DT.100038093 DT.100798218 DT.100690515 DT.100832508 DT.120690482 DT.120862686 DT.91991586 DT.92418662

DT.120690483 DT.95350690

24/393 AceView cDNA sequences (see all 393 ):

BQ932669 BE382910 BG751105 BE552209 BQ051942 BM806979 BU859626 BC004122

CR607147 BQ053990 AA677436 AW129926 BQ675818 BX418603 AW247894 BF312458

CR614909 BQ052432 AI682394 AU143205 BI918318 BE304528 AY166852 AI695849

highest scoring ESTs for RAB43:

AK128345 AY166852 BC062319 BG751105 BG900126 BX471509 D45418 BU177928 CA949800 CN293338

Unigene Cluster for RAB43:

RAB43, member RAS oncogene family

Hs.709807 [show with all ESTs]

Unigene Representative Sequence: NM_198490

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for RAB43 (see all 6 )

ExUns:	1	^	2	^	3	^	4a	·	4b	·	4c	^	5a	·	5b	^	6	^	7	^	8	^	9a	·	9b	^	10a	·	10b	·	10c	·	10d	·	10e
SP1:																	-						-
SP2:																	-		-		-		-
SP3:																	-
SP4:																	-				-		-
SP5:																			-		-		-

About this scheme

ECgene alternative splicing isoforms for RAB43

5 Ensembl transcripts including schematic representations:

ENST00000393304 ENST00000393308 ENST00000393307 ENST00000393305 ENST00000315150

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

RAB43 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for RAB43

¹ / ² / ³

6 probe-sets matching RAB43 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
65692_at²^{, 3}	U95-C	1	1.00	1.00	0.91	0.89	N30287	0.60	0.62	0.61	1
75006_at²^{, 3}	U95-E	2	1.00	0.97	0.23	1.11	AI858067	0.60	0.50	0.55	1
229894_s_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AI858067	0.60	0.50	0.55	1
225632_s_at²^{, 3}	U133-B	1	1.00	1.00	--	--	BE736242	0.40	0.50	0.45	1
229894_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
225632_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GAAAAGTTGC

SOURCE GeneReport for Unigene cluster: Hs.709807
UniProtKB/Swiss-Prot: RAB43_HUMAN, Q86YS6
Tissue specificity: Widely expressed in brain, testis, lung, heart, ovary, colon, kidney, uterus
and spleen but not in liver

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for RAB43 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
rat (Rattus norvegicus)	Rab43¹	--	RAB43, member RAS oncogene family	89.58(n) 92.79(a)	500249 NM_001024331.1 NP_001019502.1
mouse (Mus musculus)	Rab43^{1, 5}	6⁵	RAB43, member RAS oncogene family^{1, 5}	89.42(n)¹ 92.31(a)¹	69834¹ NM_001039394.1¹ NP_001034483.1¹ AA161757⁵ AB232640⁵ (see all 21)
chicken (Gallus gallus)	RAB43¹	--	RAB43, member RAS oncogene family	80.79(n) 86.67(a)	415970 XM_414313.1 XP_414313.1
zebrafish (Danio rerio)	zgc:153788¹	--	zgc:153788	72.58(n) 73.89(a)	751627 NM_001045347.1 NP_001038812.1
fruit fly (Drosophila melanogaster)	Rab-RP3¹	--	Rab-related protein 3	62.3(n) 56.54(a)	38930 NM_079246.3 NP_523970.1

About this table Species with no ortholog for RAB43

ENSEMBL Gene Tree for RAB43

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for RAB43 gene

RAB19² ENSG00000185051² RAB30²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/96 NCBI SNPs in RAB43 are shown (see all 96 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 32)

AB	SNP ID	Valid	Chr 3 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs6779660^1,2	A,C,F,H	130324342(+)	`AGCTAA/GGCCAG`	1	--	ng3¹		5		MN EU EA WA	596
	rs4467478^1,2	C,F,H	130324674(+)	`CCCTCC/TAGACA`	1	--	ng3¹		4		EU EA WA	412
--	rs4569676^1,2	C	130323920(+)	`AAACCA/GCTGCC`	1	--	ng3¹		0	--	--	--	--
	rs2128342^1,2	C,F,H,O	130316318(+)	`TGTGTG/ACCTCT`	1	--	int¹		7		EU EA WA NA	560
	rs10934871^1,2	A,C,F,H	130315897(+)	`GCAATA/GAGGAG`	1	--	int¹ trp³		3		EU EA	298
	rs4927904^1,2	A,C,F,H	130303308(+)	`aaagtG/Taagag`	1	--	int¹		7		EU EA NA	512
	rs9856204^1,2	A,C,F,H	130300050(+)	`taaacA/Gtgcaa`	1	--	int¹		4		EU EA WA	386
	rs9841893^1,2	A,C,F,H	130313236(+)	`AGATTG/TCAATA`	1	--	int¹		2		EA	176
	rs9631462^1,2	A,C,F,H	130316573(+)	`GTGGAC/TGATCC`	1	--	int¹		4		EU EA WA	418
	rs1021123^1,2	C,F,O	130319843(+)	`TGTAAT/CGGGAA`	1	--	int¹		3		NA	140

About this table

HapMap Linkage Disequilibrium images for RAB43 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

7 PubMed articles for RAB43 gene:

Isolation, expression pattern of a novel human RAB gene RAB41 and characterization of its intronless homolog RAB41P. (PubMed id 15018353)^{2, 3, 4} Guo J.H.... Zhao S.Y. (2003)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Rab18 and Rab43 have key roles in ER-Golgi trafficking. (PubMed id 18664496)³ Dejgaard S.Y....Presley J.F. (2008)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)⁴ Dephoure N.... Gygi S.P. (2008)
Analysis of GTPase-activating proteins: Rab1 and Rab43 are key Rabs required to maintain a functional Golgi complex in human cells. (PubMed id 17684057)³ Haas A.K....Barr F.A. (2007)
Specific Rab GTPase-activating proteins define the Shiga toxin and epidermal growth factor uptake pathways. (PubMed id 17562788)³ Fuchs E....Barr F.A. (2007)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)³ Strausberg R.L....Marra M.A. (2002)

(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, and/or H-InvDB)
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Entrez Gene: 339122	HGNC: 19983	AceView: KIAA1160andRAB43	Ensembl:ENSG00000172780	euGenes: HUgn339122
ECgene: RAB43	H-InvDB: RAB43

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for RAB43	Genetics and Cytogenetics in Oncology and Haematology

Licensable Technologies for RAB43
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for RAB43:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for RAB43-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for RAB43		Antibodies for RAB43
	Explore super-pooled esiRNAs		Proteins for RAB43
	Lentivirus-delivered shRNAs for RAB43		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (RAB43)
	Antibodies (RAB43)
	Chimera RNAi (RAB43)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (RAB43)
	Antibodies (RAB43)

Search OriGene for RAB43

Search Tocris compounds for RAB43

	Drugs for RAB43
	Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for RAB43

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RAB43 Gene

protein-coding GIFtS: 51

Aliases &
Descriptions
for RAB43

Summaries
for RAB43

Genomic Location
for RAB43

Proteins
for RAB43

Protein Domains/
Families
for RAB43

Gene Function
for RAB43

Pathways & Interactions
for RAB43

Drugs & Compounds
for RAB43

Transcripts
for RAB43

Expression
for RAB43

Orthologs
for RAB43

Paralogs
for RAB43

SNPs/Variants
for RAB43

Disorders & Mutations
for RAB43

Medical News
for RAB43

Publications
for RAB43

Search for RAB43

Genome Databases showing RAB43

Other Databases showing RAB43

Specialized Databases showing RAB43

Licensable Technologies
for RAB43

Services
for RAB43

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

RAB43 Gene

protein-coding GIFtS: 51

Aliases & Descriptionsfor RAB43

Summariesfor RAB43

Genomic Locationfor RAB43

Proteinsfor RAB43

Protein Domains/Familiesfor RAB43

Gene Functionfor RAB43

Pathways & Interactionsfor RAB43

Drugs & Compoundsfor RAB43

Transcriptsfor RAB43

Expression for RAB43

Orthologsfor RAB43

Paralogsfor RAB43

SNPs/Variantsfor RAB43

Disorders & Mutationsfor RAB43

Medical Newsfor RAB43

Publicationsfor RAB43

Search for RAB43

Genome Databases showing RAB43

Other Databases showing RAB43

Specialized Databases showing RAB43

Licensable Technologiesfor RAB43

Servicesfor RAB43

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for RAB43

Summaries
for RAB43

Genomic Location
for RAB43

Proteins
for RAB43

Protein Domains/
Families
for RAB43

Gene Function
for RAB43

Pathways & Interactions
for RAB43

Drugs & Compounds
for RAB43

Transcripts
for RAB43

Expression
for RAB43

Orthologs
for RAB43

Paralogs
for RAB43

SNPs/Variants
for RAB43

Disorders & Mutations
for RAB43

Medical News
for RAB43

Publications
for RAB43

Licensable Technologies
for RAB43

Services
for RAB43