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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RABL5 Gene

protein-coding GIFtS: 45
GCID: GC07M100956

RAB, member RAS oncogene family-like 5

Explore 3 diseases affiliated with
RABL5 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
RAB, Member RAS Oncogene Family-Like 5¹ ²
DKFZp761N0823¹
FLJ13225¹
FLJ14117¹
RAB, Member Of RAS Oncogene Family-Like 5²
Rab-Like Protein 5²

External Ids:	HGNC: 21895¹	Entrez Gene: 64792²	Ensembl: ENSG00000128581⁷	UniProtKB: Q9H7X7³

Export aliases for RABL5 gene to outside databases

Previous GC identifers: GC07M100516 GC07M100550 GC07M100743 GC07M095549

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

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007933.15 NT_079596.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RABL5 gene promoter:
Nkx3-1 v2 Nkx3-1 v4 POU2F1 AML1a POU2F1a Nkx3-1 v3 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RABL5 promoter sequence

Search SABiosciences Chromatin IP Primers for RABL5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RABL5

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

Entrez Gene cytogenetic band: 7q22.1 Ensembl cytogenetic band: 7q22.1 HGNC cytogenetic band: 7q22.1

RABL5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RABL5 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M100956: view genomic region (about GC identifiers)

Start:	100,956,648 bp from pter	End:	100,965,104 bp from pter
Size:	8,457 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 100,315,035-100,323,480

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RABL5_HUMAN, Q9H7X7 (See protein sequence)

Recommended Name: Rab-like protein 5

Size: 185 amino acids; 20835 Da

Secondary accessions: Q49AG1 Q69YV5 Q9BSW4

Alternative splicing: 3 isoforms: Q9H7X7-1 Q9H7X7-2 Q9H7X7-3

Explore the universe of human proteins at neXtProt for RABL5: NX_Q9H7X7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9H7X7

RABL5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001124292.1 NP_001124293.1 NP_001124294.1 NP_073614.1

ENSEMBL proteins:

ENSP00000392087 ENSP00000429202 ENSP00000320359 ENSP00000429648 ENSP00000390770

ENSP00000389170

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	Uscn ELISAs and CLIAs for RABL5

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RABL5 for domains About GeneDecksing

1 InterPro domain/family:

IPR001806 Small_GTPase

Graphical View of Domain Structure for InterPro Entry Q9H7X7

ProtoNet protein and cluster: Q9H7X7

UniProtKB/Swiss-Prot: RABL5_HUMAN, Q9H7X7

Similarity: Belongs to the small GTPase superfamily. Rab family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

miRNA Products:		OriGene 3'-UTR Clone (see all 4): RABL5 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RABL5
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RABL5

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

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

RABL5 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for RABL5:

Proliferating cells

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for RABL5

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for RABL5 (Q9H7X7³ ENSP00000320359⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MAGEB2	O15479³, ENSP00000368273⁴	I2D: score=1 STRING: ENSP00000368273

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

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

RABL5 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 RABL5
Search CenterWatch for drugs/clinical trials and news about RABL5

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RABL5 gene (4 alternative transcripts):

NM_001130820.1 NM_001130821.1 NM_001130822.1 NM_022777.2

Unigene Cluster for RABL5:

RAB, member RAS oncogene family-like 5

Hs.389104 [show with all ESTs]

Unigene Representative Sequence: AL157469

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000422177(uc011kkk.2 uc011kkl.2 uc003uym.3 uc003uyl.3 uc010lhw.3)

ENST00000517481 ENST00000315322 ENST00000498704 ENST00000440362 ENST00000437644

ENST00000430911 ENST00000495166 ENST00000468833(uc011kkm.2) ENST00000485695

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		hsa-miR-1290 hsa-miR-514b-5p hsa-miR-513c
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Additional cDNA sequence:

AK023287.1 AK024179.1 AK292254.1 AK294653.1 AK298888.1 AK308684.1 AL157469.1 BC004522.2

BC009823.2 BC038668.1 BC050531.1

8 DOTS entries:

DT.433959 DT.100815424 DT.95359963 DT.121051656 DT.95191620 DT.91759922 DT.100035926 DT.40315405

24/138 AceView cDNA sequences (see all 138):

BM931056 BM311176 BQ003647 BI820817 BM924616 BU845492 AU122163 BF965619

BM684529 CR593886 BQ921477 CA407869 BU857761 BQ935441 BQ052871 BP341477

BM667883 BM699357 AA432393 BM696510 CA841889 AI872998 BE271977 BQ182973

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for RABL5 (see all 10) About this scheme

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

ECgene alternative splicing isoforms for RABL5

(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

RABL5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

RABL5 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Gut Tube

Ventral Foregut Endoderm

Gut Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

See RABL5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RABL5

SOURCE GeneReport for Unigene cluster: Hs.389104

SABiosciences Custom PCR Arrays for RABL5

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RABL5

(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 animals.

Orthologs for RABL5 gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rabl5^{1 , 5}	RAB, member of RAS oncogene family-like 5^{1, 5}	86.85(n)¹ 90.27(a)¹		5 (76.03 cM)⁵ 67286¹ NM_026073.3¹ NP_080349.1¹ 136908150⁵
chicken (Gallus gallus)	Aves	RABL5¹	RAB, member RAS oncogene family-like 5	69.55(n) 68.11(a)		417503 XM_415752.3 XP_415752.2
lizard (Anolis carolinensis)	Reptilia	RABL5⁶	--	65(a)	1 ↔ 1	GL343613.1(330726-333298)
African clawed frog (Xenopus laevis)	Amphibia	Xl.4597²	Xenopus laevis transcribed sequence with weak similarity more	77.36(n)		48063127
zebrafish (Danio rerio)	Actinopterygii	rabl5¹	RAB, member RAS oncogene family-like 5	62.7(n) 61.08(a)		550583 NM_001017884.1 NP_001017884.1
worm (Caenorhabditis elegans)	Secernentea	ifta-2⁶	IntraFlagellar Transport Associated family member ...	21(a)	1 ↔ 1	IV(17300772-17301996)

ENSEMBL Gene Tree for RABL5 (if available)
TreeFam Gene Tree for RABL5 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12669565^1,2	C,H,	--	100956261(+)	`AGGCAC/TGTGCT`	4	--	ds500¹		3		NA WA	6
rs186539822^1,2		--	100956290(+)	`TTGTAG/TTTTTA`	4	--	ds500¹		0	--	--	--	--
rs151217146^1,2		--	100956395(+)	`CAGGCA/GTAAGC`	4	--	ds500¹		0	--	--	--	--
rs190943956^1,2		--	100956402(+)	`AAGCCA/GCTGCA`	4	--	ds500¹		0	--	--	--	--
rs139225518^1,2		--	100956531(+)	`TGTTGA/GCCAGG`	4	--	ds500¹		0	--	--	--	--
rs114821242^1,2	F,	--	100956635(+)	`CTTCAA/GTTTTT`	4	--	ds500¹		1		WA	118
rs143519451^1,2	C,	--	100956723(+)	`CAATT-/CTCCTGCC`	4	--	ut3¹		0	--	--	--	--
rs144092846^1,2		--	100956786(+)	`TTTTTG/TTATTT`	4	--	ut3¹		0	--	--	--	--
rs36079227^1,2	C,F,	--	100956841(+)	`TCTCTG/TGACCT`	4	--	ut3¹		4		NA WA	8
rs141274095^1,2		--	100956863(+)	`TGCCTC/TGGCCT`	4	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for RABL5 (100956648 - 100965104 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for RABL5
5 CNVs: 5244 8575 34535 8576 5245

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RABL5

DNA2.0 Custom Variant and Variant Library Synthesis for RABL5

(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.)
About This Section

RABL5 for disorders About GeneDecksing

3 diseases for RABL5: About MalaCards

bardet-biedl syndrome choroiditis neuronitis

Export disorders for RABL5 gene to outside databases

(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 RABL5 gene integrated from 9 sources:
(articles sorted by number of sources associating them with RABL5)

Utopia: connect your pdf to the dynamic
world of online information

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (2002)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)¹ Lamesch P.... Vidal M. (2007)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
The DNA sequence of human chromosome 7. (PubMed id 12853948)² Hillier L.W.... Wilson R.K. (2003)
Expressed sequence tag analysis of human RPE/choroid for the NEIBank project: over 6000 non-redundant transcripts, novel genes and splice variants. (PubMed id 12107410)¹ Wistow G.... Peterson K. (2002)

(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: 64792	HGNC: 21895	AceView: RABL5	Ensembl:ENSG00000128581	euGenes: HUgn64792
ECgene: RABL5	H-InvDB: RABL5

(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

Name	Description
PharmGKB entry for RABL5	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for RABL5	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for RABL5 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for RABL5 gene:
Search GeneIP for patents involving RABL5

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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 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

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes RABL5 gene at Home site.

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RABL5 Gene

RAB, member RAS oncogene family-like 5

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RABL5 Gene

RAB, member RAS oncogene family-like 5

Aliasesfor RABL5 gene

Summariesfor RABL5 gene

Genomic Viewsfor RABL5 gene

Proteinsfor RABL5 gene

Protein Domains /Familiesfor RABL5 gene

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