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RSG1 Gene

protein-coding   GIFtS: 42
GCID: GC01M016557

REM2 And RAB-Like Small GTPase 1

(Previous name: chromosome 1 open reading frame 89)
(Previous symbol: C1orf89)
  Search for RSG1
at  

(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
REM2 And RAB-Like Small GTPase 11 2
C1orf891 2 3
Rem/Rab-Similar GTPase 11 2
Chromosome 1 Open Reading Frame 891
Miro Domain-Containing Protein C1orf892
REM2- And Rab-Like Small GTPase 12

External Ids:    HGNC: 281271   Entrez Gene: 793632   Ensembl: ENSG000001328817   UniProtKB: Q9BU203   

Export aliases for RSG1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RSG1 Gene:
RSG1 (REM2 and RAB-like small GTPase 1) is a protein-coding gene. GO annotations related to this gene include GTP binding.

UniProtKB/Swiss-Prot: RSG1_HUMAN, Q9BU20
Function: Potential effector of the planar cell polarity signaling pathway. Plays a role in targeted membrane
trafficking most probably at the level of vesicle fusion with membranes. Involved in cilium biogenesis by
regulating the transport of cargo proteins to the basal body and to the apical tips of cilia. More generally
involved in exocytosis in secretory cells (By similarity)




(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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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Search for regulatory transcription factor binding sites for RSG1
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RSG1


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

Entrez Gene cytogenetic band: 1p36.13   Ensembl cytogenetic band:  1p36.13   HGNC cytogenetic band: 1p36.13

RSG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RSG1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M016557:  view genomic region     (about GC identifiers)

Start:
16,558,182 bp from pter      End:
16,563,659 bp from pter
Size:
5,478 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RSG1_HUMAN, Q9BU20 (See protein sequence)
Recommended Name: REM2- and Rab-like small GTPase 1  
Size: 258 amino acids; 28498 Da
Secondary accessions: Q5TEV7

Explore the universe of human proteins at neXtProt for RSG1: NX_Q9BU20

Explore proteomics data for RSG1 at MOPED


See RSG1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_112169.2  
ENSEMBL proteins: 
 ENSP00000364749   ENSP00000406390  

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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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3 InterPro protein domains:
 IPR027417 P-loop_NTPase
 IPR013684 MIRO-like
 IPR001806 Small_GTPase

Graphical View of Domain Structure for InterPro Entry Q9BU20

ProtoNet protein and cluster: Q9BU20

UniProtKB/Swiss-Prot: RSG1_HUMAN, Q9BU20
Similarity: Belongs to the small GTPase superfamily. Rab family


RSG1 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, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: RSG1_HUMAN, Q9BU20
Function: Potential effector of the planar cell polarity signaling pathway. Plays a role in targeted membrane
trafficking most probably at the level of vesicle fusion with membranes. Involved in cilium biogenesis by
regulating the transport of cargo proteins to the basal body and to the apical tips of cilia. More generally
involved in exocytosis in secretory cells (By similarity)

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005525GTP binding IEA--
     
RSG1 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for RSG1:
 Decreased Wnt reporter activit 

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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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Subcellular locations from UniProtKB/Swiss-Prot
RSG1_HUMAN, Q9BU20: Cytoplasm, cytoskeleton, cilium basal body (By similarity)

Gene Ontology (GO): 4 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005622intracellular ----
GO:0005737cytoplasm IEA--
GO:0005929cilium ----
GO:0036064ciliary basal body ISS--

RSG1 for ontologies           About GeneDecksing


(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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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RSG1
Interactions:

    Search GeneGlobe Interaction Network for RSG1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

4 Interacting proteins for RSG1 (Q9BU203 ENSP000003647494) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
FUZQ9BT043, ENSP000003133094I2D: score=4 STRING: ENSP00000313309
MSLNENSP000003723134STRING: ENSP00000372313
TMEM14CENSP000002295634STRING: ENSP00000229563
EIF3DENSP000002161904STRING: ENSP00000216190
About this table

Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006887exocytosis IEA--
GO:0007264small GTPase mediated signal transduction IEA--
GO:0015031protein transport IEA--
GO:0017157regulation of exocytosis ISS--
GO:0031338regulation of vesicle fusion ISS--

RSG1 for ontologies           About GeneDecksing



(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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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for RSG1



(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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for RSG1 gene: 
NM_030907.3  

Unigene Cluster for RSG1:

REM2 and RAB-like small GTPase 1
Hs.546430  [show with all ESTs]
Unigene Representative Sequence: NM_030907
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000375599(uc001ayd.3) ENST00000434014
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Additional mRNA sequence: 

BC002946.2 BC008702.1 

1 DOTS entry:

DT.75105204 

21 AceView cDNA sequences:

CR594894 BM972129 AI763332 BC002946 BM806211 BC008702 NM_030907 BE395771 
BX369457 BX092154 BG397004 AI744915 CD518311 AL559024 BM695045 CD674700 
BM987595 BF026514 AW905080 W02174 W32586 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for RSG1    About this scheme

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5
SP1:                                    
SP2:                    -               


ECgene alternative splicing isoforms for RSG1

(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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RSG1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GCAGGGAGGT
RSG1 Expression
About this image

RSG1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

RSG1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.546430
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RSG1

(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 chordates.

Orthologs for RSG1 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Rsg11 , 5 RIKEN cDNA 6330545A04 gene5
REM2 and RAB-like small GTPase 11
84.95(n)1
89.11(a)1
  4 (73.47 cM)5
761661  NM_001081174.21  NP_001074643.11 
 1412139565 
lizard
(Anolis carolinensis)
Reptilia RSG16
REM2 and RAB-like small GTPase 1
57(a)
1 ↔ 1
GL345040.1(21-4195)
tropical clawed frog
(Xenopus tropicalis)
Amphibia rsg11 REM2 and RAB-like small GTPase 1 64.12(n)
63.56(a)
  549439  NM_001016685.2  NP_001016685.1 
zebrafish
(Danio rerio)
Actinopterygii rsg11 REM2 and RAB-like small GTPase 1 63.49(n)
56.28(a)
  447911  NM_001004649.1  NP_001004649.1 


ENSEMBL Gene Tree for RSG1 (if available)
TreeFam Gene Tree for RSG1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(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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Selected SNPs for RSG1 (see all 184)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs112607091,2
C,F,A,H--16557691(+) catggC/Tggttg 1 -- int15Minor allele frequency- T:0.20NA 10
rs710032611,2
C--16557823(-) TTTTT-/C/T   
  CT
/TTC
TCCAG
3 -- int1 cds11NA 2
rs127382611,2
C--16557824(+) CTGGAG/AAAAAA 1 -- int11Minor allele frequency- A:0.50NA 2
rs75413691,2
C,F,A,H--16557864(+) GCGACG/TGGCTT 1 -- int110Minor allele frequency- T:0.10NS NA WA 1040
rs1864853141,2
--16557876(+) ACTCCC/TGGACT 1 -- int10--------
rs127386331,2
C,F,H--16558056(+) CTGACT/ACCCTA 1 -- int18Minor allele frequency- A:0.01NS EA NA 410
rs124108701,2
H--16558120(+) GAGCAA/GAGCCC 1 -- int10--------
rs1467972371,2
C--16558142(+) TCACCC/TCCTCC 1 -- int10--------
rs1916867941,2
--16558173(+) AACGAA/TCACGT 1 -- int10--------
rs1479529021,2
C--16558327(+) GGCCAC/TGGGAG 1 -- ut310--------

HapMap Linkage Disequilibrium report for RSG1 (16558182 - 16563659 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for RSG1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv3520CNV Insertion18451855
nsv833869CNV Loss17160897
dgv174n71CNV Loss21882294
nsv870978CNV Loss21882294

Site Specific Mutation Identification with PCR Assays
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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.)
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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 RSG1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with RSG1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development. (PubMed id 19767740)1, 3 Gray R.S....Finnell R.H. (Nat. Cell Biol. 2009)
  2. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
  3. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
  4. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PubMed id 22001757)1 Chambers J.C....Kooner J.S. (Nat. Genet. 2011)
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
  6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
  7. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
  8. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (Genome Res. 2004)
  9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
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: 79363 HGNC: 28127 AceView: MGC10731 Ensembl:ENSG00000132881 euGenes: HUgn79363
ECgene: RSG1 H-InvDB: RSG1

(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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NameDescription
PharmGKB entry for RSG1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for RSG1 gene:
Search GeneIP for patents involving RSG1

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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 inGenious Targeting Laboratory, genOway)
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 Custom PCR Arrays for RSG1 Search Chromatin IP Primers for RSG1
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RSG1
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RSG1
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 LSBio Antibodies in human, mouse, rat for RSG1
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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