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Aliases for RSG1 Gene

Aliases for RSG1 Gene

  • REM2 And RAB Like Small GTPase 1 2 3 5
  • Rem/Rab-Similar GTPase 1 2 3
  • C1orf89 3 4
  • Miro Domain-Containing Protein C1orf89 3
  • Chromosome 1 Open Reading Frame 89 2
  • REM2- And Rab-Like Small GTPase 1 3
  • REM2 And RAB-Like Small GTPase 1 2

External Ids for RSG1 Gene

Previous HGNC Symbols for RSG1 Gene

  • C1orf89

Previous GeneCards Identifiers for RSG1 Gene

  • GC01M016557

Summaries for RSG1 Gene

GeneCards Summary for RSG1 Gene

RSG1 (REM2 And RAB Like Small GTPase 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include GTP binding.

UniProtKB/Swiss-Prot for RSG1 Gene

  • 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).

Additional gene information for RSG1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RSG1 Gene

Genomics for RSG1 Gene

GeneHancer (GH) Regulatory Elements for RSG1 Gene

Promoters and enhancers for RSG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I016236 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 570.6 +0.3 285 2.3 HDGF SMAD1 ARID4B SIN3A ZNF2 YY1 POLR2B ZNF766 ZNF213 E2F8 RSG1 ARHGEF19 NECAP2 ARHGEF19-AS1 FAM131C ZBTB17 LINC01783 GC01M016230
GH01I016366 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 25.5 -130.5 -130530 3 CLOCK ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC RPL22P3 RSG1 ARHGEF19 FBXO42 SZRD1
GH01I016205 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 25.8 +30.3 30273 3.7 HDGF PKNOX1 SMAD1 ARNT ARID4B DMAP1 ZNF2 YY1 POLR2B ZNF766 ARHGEF19 RSG1 NBPF1 FAM131C ENSG00000224621 SZRD1 CROCC MFAP2 GC01P016210 ARHGEF19-AS1
GH01I016902 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -667.6 -667598 4.9 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ENSG00000272426 CROCC ZBTB17 CROCCP3 LINC01772 RPL22P3 ARHGEF19 MFAP2 NBPF1 NECAP2
GH01I016247 Enhancer 1.4 Ensembl ENCODE dbSUPER 15.2 -11.4 -11377 3.5 FOXA2 PKNOX1 SMAD1 ARNT FEZF1 YY1 ZNF766 ZNF213 REST ZNF592 PIR51330 ARHGEF19 CROCC SPEN RSG1 SZRD1 FBXO42 ARHGEF19-AS1 RPL22P3 CROCCP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RSG1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for RSG1 Gene

Genomic Locations for RSG1 Gene
chr1:16,231,687-16,237,452
(GRCh38/hg38)
Size:
5,766 bases
Orientation:
Minus strand
chr1:16,558,182-16,563,659
(GRCh37/hg19)

Genomic View for RSG1 Gene

Genes around RSG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RSG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSG1 Gene

Proteins for RSG1 Gene

  • Protein details for RSG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BU20-RSG1_HUMAN
    Recommended name:
    REM2- and Rab-like small GTPase 1
    Protein Accession:
    Q9BU20
    Secondary Accessions:
    • Q5TEV7

    Protein attributes for RSG1 Gene

    Size:
    258 amino acids
    Molecular mass:
    28498 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RSG1 Gene

Post-translational modifications for RSG1 Gene

No Post-translational modifications

Other Protein References for RSG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RSG1 Gene

Domains & Families for RSG1 Gene

Gene Families for RSG1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RSG1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RSG1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BU20

UniProtKB/Swiss-Prot:

RSG1_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RSG1: view

Function for RSG1 Gene

Molecular function for RSG1 Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for RSG1 Gene

Gene Ontology (GO) - Molecular Function for RSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005515 protein binding IPI 16189514
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with RSG1: view
genes like me logo Genes that share phenotypes with RSG1: view

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RSG1 Gene

Localization for RSG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RSG1 Gene

Cytoplasm, cytoskeleton, cilium basal body.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RSG1 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0036064 ciliary basal body ISS --
genes like me logo Genes that share ontologies with RSG1: view

Pathways & Interactions for RSG1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006887 exocytosis IEA --
GO:0015031 protein transport IEA --
GO:0017157 regulation of exocytosis ISS --
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with RSG1: view

No data available for Pathways by source and SIGNOR curated interactions for RSG1 Gene

Drugs & Compounds for RSG1 Gene

No Compound Related Data Available

Transcripts for RSG1 Gene

mRNA/cDNA for RSG1 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(21) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RSG1 Gene

REM2 and RAB-like small GTPase 1:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RSG1 Gene

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

Relevant External Links for RSG1 Gene

GeneLoc Exon Structure for
RSG1
ECgene alternative splicing isoforms for
RSG1

Expression for RSG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RSG1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RSG1 Gene:

RSG1

SOURCE GeneReport for Unigene cluster for RSG1 Gene:

Hs.546430

Evidence on tissue expression from TISSUES for RSG1 Gene

  • Skin(4.1)
genes like me logo Genes that share expression patterns with RSG1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RSG1 Gene

Orthologs for RSG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RSG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RSG1 33 34
  • 98.97 (n)
dog
(Canis familiaris)
Mammalia RSG1 33 34
  • 89.49 (n)
cow
(Bos Taurus)
Mammalia RSG1 33 34
  • 88.67 (n)
oppossum
(Monodelphis domestica)
Mammalia RSG1 34
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rsg1 33 16 34
  • 84.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RSG1 34
  • 29 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RSG1 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rsg1 33
  • 64.12 (n)
zebrafish
(Danio rerio)
Actinopterygii rsg1 33 34
  • 63.49 (n)
Species where no ortholog for RSG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RSG1 Gene

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

Paralogs for RSG1 Gene

No data available for Paralogs for RSG1 Gene

Variants for RSG1 Gene

Sequence variations from dbSNP and Humsavar for RSG1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000774406 -- 16,233,069(-) G/A intron_variant
rs1002216153 -- 16,238,719(-) A/T upstream_transcript_variant
rs1002548132 -- 16,234,911(-) A/C intron_variant
rs1003222729 -- 16,237,203(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1003253844 -- 16,237,398(-) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RSG1 Gene

Variant ID Type Subtype PubMed ID
nsv954845 CNV deletion 24416366
nsv833869 CNV loss 17160897
nsv545641 CNV loss 21841781
nsv3520 CNV insertion 18451855
esv3585333 CNV loss 21293372

Variation tolerance for RSG1 Gene

Residual Variation Intolerance Score: 74.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.34; 26.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RSG1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RSG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSG1 Gene

Disorders for RSG1 Gene

Additional Disease Information for RSG1

No disorders were found for RSG1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RSG1 Gene

Publications for RSG1 Gene

  1. The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development. (PMID: 19767740) Gray RS … Finnell RH (Nature cell biology 2009) 2 3 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease. (PMID: 27717682) Mukawa M … Akagawa H (Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2017) 4 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for RSG1 Gene

Sources for RSG1 Gene

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