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Aliases & Descriptions for RAB27A
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases GS2 1 , 2 , 5 HsT18676 1 , 2 MGC117246 2 RAB27 1 , 2 , 3 RAM 1 , 2 , 5 Rab-27 3
Descriptions GTP-binding protein Ram 2 , 3 RAB27A, member RAS oncogene family 2 Ras-related protein Rab-27A 2
Search outside databases for aliases for RAB27A genePrevious GC identifers: GC15M051054 GC15M048542 GC15M053075 GC15M053211
Summaries for RAB27A (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for RAB27A : The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The proteinis membrane-bound and may be involved in protein transport and small GTPase mediated signaltransduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternativesplicing occurs at this locus and four transcript variants encoding the same protein have beenidentified. [provided by RefSeq] Gene Wiki entry for RAB27A
Genomic Location for RAB27A
(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
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the RAB27A gene Entrez Gene cytogenetic band: 15q15-q21.1 Ensembl cytogenetic band: 15q21.3 HGNC cytogenetic band: 15q15-q21.1 RAB27A 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 15 GeneLoc Exon Structure
GeneLoc location for GC15M053283:
(about GC identifiers )
Start:
53,283,084 bp from pter
End:
53,369,293 bp from pter
Size:
86,210 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000015.8 NT_010194.16 Proteins for RAB27A
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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: RB27A_HUMAN, P51159 (See
protein sequence )Recommended Name: Ras-related protein Rab-27A Size : 221 amino acids; 24868 Da
Subunit : Binds SYTL1, SYTL2, SLAC2B, MYRIP, SYTL3, SYTL4 and SYTL5 (By similarity). Binds MLPH
Subcellular location : Membrane; Lipid-anchor. Melanosome. Note=Identified by mass spectrometry inmelanosome fractions from stage I to stage IV
Secondary accessions : O00195 Q6FI40 Q9UIR9 Q9Y5U3Alternative splicing : 2 isoforms : P51159-1 P51159-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (4 alternative transcripts):
NP_004571.2 NP_899057.1 NP_899058.1 NP_899059.1 ENSEMBL proteins: ENSP00000337761 ENSP00000379601 ENSP00000379598 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: RAB27A 4 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for RAB27A: Assays for RAB27A:
Protein
Domains/ Families for RAB27A(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 P51159 ProtoNet protein and cluster: P51159
1 Blocks protein family : IPB001806 Transforming protein P21 RAS signature UniProtKB/Swiss-Prot: RB27A_HUMAN, P51159 Similarity : Belongs to the small GTPase superfamily. Rab family
Gene Function for RAB27A
(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
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Millipore ,
OriGene , and/or
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siRNAs from
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_004580 Applied Biosystems Silencer ® siRNAs for RAB27A Sigma-Aldrich siRNA and siRNA Panels for RAB27A Sigma-Aldrich shRNA for RAB27A Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_004580                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_004580                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_004580  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_183236 Genatlas biochemistry entry for RAB27A :RAB27A,RAS oncogene superfamily member,prenylated by REP1 and unprenylated in CHM patients with analternatively polyadenylation sites
10 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Rab27a) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for RAB27A
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for RAB27A 5/54 Interacting proteins for RAB27A (P51159 2 ENSP00000337761 3 ) via UniProtKB, MINT, and/or STRING (see all 54
)About this table 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 --
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Drugs & Compounds for RAB27A (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 )
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Enzo Life Sciences drugs & compounds for RAB27A
Browse Tocris compounds for RAB27A 5 Novoseek chemical compound relationships for RAB27A gene
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Transcripts for RAB27A(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 ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_004580 Sigma-Aldrich siRNA and siRNA Panels for RAB27A Sigma-Aldrich shRNA for RAB27A Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_004580 NM_183234 NM_183235 NM_183236
REFSEQ mRNAs for RAB27A gene (4 alternative transcripts): NM_004580.3 NM_183234.1 NM_183235.1 NM_183236.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004580 NM_183234 NM_183235 NM_183236
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_004580                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_004580                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_004580  
Additional cDNA sequence: AF125393.1 AF498953.1 AK312836.1 BC107680.1 BC132800.1 BC136423.1 CR457076.1 CR536496.1 CR541693.1 U38654.3 U57094.1
15 DOTS entries : DT.453964 DT.95144894 DT.100020791 DT.100783078 DT.100783075 DT.121055527 DT.424986 DT.95172375 DT.100703883 DT.100783077 DT.75149054 DT.92432952 DT.95100695 DT.95332837 DT.106353
24/152 AceView cDNA sequences (see all 152
):BG760453 BE349443 CB159742 BM472660 AI246340 CR536496 AA278355 BM759182 NM_183236 AW468494 BM800922 BM014705 AW849487 CD676702 AI969654 BQ427808 NM_183234 BM313622 CB565912 BM557278 AI434808 BQ678619 AW080916 BQ020782
highest scoring ESTs for RAB27A :AL120794 AV661679 AV751976 U57094 AA215624 AA251898 AA278343 AA345803 AA478644 AA506404
Unigene Cluster for RAB27A: RAB27A, member RAS oncogene family Hs.654978 [show with all ESTs ] Unigene Representative Sequence: NM_004580 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for RAB27A ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b SP1 :     -     -   -               SP2 :           -               SP3 :         -   -               SP4 :   -   -                    
About this scheme ECgene alternative splicing isoforms for RAB27A 3 Ensembl transcripts including schematic representations : ENST00000336787
ENST00000396307
ENST00000396304
Expression for RAB27A
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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RAB27A expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for RAB27A 1 / 2 / 3
9 probe-sets matching RAB27A gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GCACAGTGAGSOURCE GeneReport for Unigene cluster: Hs.654978 Expression variation in blood from EXPOLDB for RAB27A
UniProtKB/Swiss-Prot: RB27A_HUMAN, P51159 Tissue specificity : Found in all the examined tissues except in brain. Low expression was found inthymus, kidney, muscle and placenta. Detected in melanocytes, and in most tumor cell linesexamined
Orthologs for RAB27A
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for RAB27A gene from 5/12 species (see all 12
)
About this table Species with no ortholog for RAB27A ENSEMBL Gene Tree for RAB27A Paralogs for RAB27A (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for RAB27A gene RAB26 2 RAB27B 2 RAB37 2
SNPs/Variants for RAB27A (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for RAB27A (up to first 250kb)
Disorders & Mutations for RAB27A
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 603868 disorders : 607624 UniProtKB/Swiss-Prot: RB27A_HUMAN, P51159
Defects in RAB27A are a cause of Griscelli syndrome type-2 (GS2) [MIM:607624]. Griscellisyndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skinand hair, the presence of large clumps of pigment in hair shafts, and an accumulation ofmelanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophageactivation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bonemarrow transplantation. Neurological impairment is present in some patients, likely as a result ofhemophagocytic syndrome
8 Novoseek disease relationships for RAB27A gene
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
griscelli syndrome, type 2
96.59
5
16278825 (1), 12446441 (1), 18991284 (1), 18350256 (1) (see all 5 )
piebaldism
94.60
8
15713878 (1), 15163896 (1), 12446441 (1), 12531900 (1) (see all 6 )
lymphohistiocytosis hemophagocytic
74.94
5
18311812 (1), 11571516 (1), 16278825 (1), 18991284 (1) (see all 5 )
chediak-higashi syndrome
68.24
2
17088644 (1), 16962048 (1)
familial hemophagocytic lymphohistiocytosis
65.19
2
16962048 (1)
immunodeficiency
25.59
4
15713878 (1), 11571516 (1), 15690086 (1), 11178108 (1)
melanoma
14.52
6
11773082 (2), 9066979 (1), 18281284 (1)
tumors
0.00
2
19212825 (1)
About this table Human Gene Mutation Database : RAB27A Human Genome Epidemiology Navigator: RAB27A (1 document)
Medical News for RAB27A (Possibly Related Articles in
Doctor's Guide )
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--
Publications for RAB27A (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/118 PubMed articles for RAB27A gene (see all 118
): Deficient geranylgeranylation of Ram/Rab27 in choroideremia. (PubMed id 7592656) 2, 3, 4 Seabra M.C.... Anant J.S. (1995) Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome. (PubMed id 12531900) 1, 3, 4 Bahadoran P....Ballotti R. (2003) Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. (PubMed id 12446441) 1, 3, 4 Menasche G.... de Saint Basile G. (2003) Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets. (PubMed id 9066979) 1, 3, 4 Chen D.... Gahl W.A. (1997) Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. (PubMed id 10835631) 1, 3, 4 Menasche G....de Saint Basile G. (2000) Cloning, mapping and characterization of the human RAB27A gene. (PubMed id 10571040) 1, 3, 4 Tolmachova T....Seabra M.C. (1999) Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065) 3, 4 Chi A....Hunt D.F. (2006) 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) Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. (PubMed id 12643545) 3, 4 Basrur V.... Appella E. (2003) Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions. (PubMed id 12062444) 3, 4 Nagashima K....Izumi T. (2002)
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Genome Databases showing RAB27A
(According to
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AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing RAB27A
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Specialized Databases showing RAB27A (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
ATLAS Chromosomes in Cancer entry for RAB27A Genetics and Cytogenetics in Oncology and Haematology RAB27Abase http://bioinf.uta.fi/RAB27Abase/ Mutations of the RAB27A gene http://www.retina-international.com/sci-news/rab27mut.htm
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-- Services for RAB27A (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
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