SGSM1 Gene
protein-coding GIFtS: 43
GCID: GC22P025202
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|
small G protein signaling modulator 1(Previous name: RUN and TBC1 domain containing 2 )
(Previous symbol: RUTBC2)
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Aliases
for SGSM1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Small G Protein Signaling Modulator 11 2 | | RUTBC21 2 3 | | RUN And TBC1 Domain Containing 21 2 | | KIAA19411 3 | | RUN And TBC1 Domain-Containing Protein 22 3 | | Small G Protein Signaling Modulator 1 Protein2 |
Export aliases for SGSM1 gene to outside databasesPrevious GC identifers: GC22P023532 GC22P008151 |
Summaries
for SGSM1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for SGSM1 gene
(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_000022.10 NC_018933.1 NT_011520.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SGSM1 gene promoter:
LUN-1 NF-E2 p45 LCR-F1 FAC1 ARP-1 STAT3 FOXO1a NF-E2 Zic3 FOXO1
Other transcription factors
Search SABiosciences Chromatin IP Primers for SGSM1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SGSM1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 22q11.23 Ensembl cytogenetic band: 22q11.23 HGNC cytogenetic band: 22q11.23SGSM1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22P025202: view genomic region
(about GC identifiers)
Start:
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25,202,136 bp from pter |
End:
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25,323,545 bp from pter |
Size:
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121,410 bases |
Orientation:
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plus strand |
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Proteins
for SGSM1 gene
(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: SGSM1_HUMAN, Q2NKQ1 (See
protein sequence)Recommended Name: Small G protein signaling modulator 1 Size: 1148 amino acids; 129718 Da
Subunit: Interacts with RAB3A, RAB4A, RAB5A, RAB8A, RAB11A, RAP1A, RAP1B, RAP2A and RAP2B. No interaction with RAB27A
Subcellular location: Golgi apparatus, trans-Golgi network (By similarity)
Sequence caution: Sequence=BAB85527.1; Type=Erroneous initiation;
Secondary accessions: A5LGW1 A8MUT4 B0QYW0 B0QYW1 B5MEG1 Q5TFL3 Q8TF60Alternative splicing: 3 isoforms: Q2NKQ1-1 Q2NKQ1-3 Q2NKQ1-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for SGSM1: NX_Q2NKQ1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q2NKQ1
SGSM1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_001035037.1 NP_001091967.1 NP_001091968.1 NP_597711.1
ENSEMBL proteins: ENSP00000383211 ENSP00000383212
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005794 | Golgi apparatus |
IEA | -- |
SGSM1 for ontologies About GeneDecksing
SGSM1 Antibody Products:
Assay Products for SGSM1: |
Protein
Domains /
Families
for SGSM1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SGSM1 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q2NKQ1ProtoNet protein and cluster: Q2NKQ1 1 Blocks protein family: IPB000195 RabGAP/TBC domain
UniProtKB/Swiss-Prot: SGSM1_HUMAN, Q2NKQ1Similarity: Belongs to the RUTBC familySimilarity: Contains 1 Rab-GAP TBC domainSimilarity: Contains 1 RUN domain |
Function
for SGSM1 gene
(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
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SGSM1 (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SGSM1 (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 4): SGSM1 (NM_133454) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SGSM1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGSM1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGSM1 |
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:0005097 | Rab GTPase activator activity |
IEA | -- |
SGSM1 for ontologies About GeneDecksing
|
Pathways & Interactions
for SGSM1 gene
(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 CentralTM Interacting Genes and Proteins Networks for SGSM1
|
Drugs & Compounds
for SGSM1 gene(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 Tocris compounds for SGSM1
Search CenterWatch for drugs/clinical trials and news about SGSM1
|
Transcripts
for SGSM1 gene(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 SGSM1 gene (4 alternative transcripts): NM_001039948.2 NM_001098497.1 NM_001098498.1 NM_133454.2 Unigene Cluster for SGSM1: Small G protein signaling modulator 1 Hs.474397 [show with all ESTs]Unigene Representative Sequence: AB2757615 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000400358(uc003abf.2 uc003abg.2 uc010guu.1 uc003abh.2 uc003abj.2 uc003abi.1)
ENST00000470591 ENST00000400359 ENST00000473458 ENST00000480523
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SGSM1 (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SGSM1 (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 4): SGSM1 (NM_133454) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SGSM1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGSM1 |
Additional cDNA sequence: AB275761.1 AB449879.1 AK123162.1 AK124850.1 BC036915.1 BC111698.1 8 DOTS entries: DT.101979627 DT.406131 DT.120663514 DT.406130 DT.100744234 DT.95259482 DT.121234906 DT.75182573 24/57 AceView cDNA sequences (see all 57): H55305 BX116718 AI797011 CA390592 H55488 AK123162 BX107450 AA622692 BM725760 BU740613 BU680772 AW292307 H38281 H55245 BM668881 AW028652 BI768965 AI378446 AI692308 BC036915 BF507540 AW592693 BM693560 BU684973
GeneLoc Exon Structure
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Expression
for SGSM1 gene
(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
| SGSM1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGACGGTCAG
About this image
See SGSM1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SGSM1
SOURCE GeneReport for Unigene cluster: Hs.474397
UniProtKB/Swiss-Prot: SGSM1_HUMAN, Q2NKQ1Tissue specificity: Mainly expressed in brain, heart and testis
SABiosciences Custom PCR Arrays for SGSM1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SGSM1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SGSM1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SGSM1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SGSM1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGSM1 |
Orthologs
for SGSM1 gene
(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 eukaryotes.
Orthologs for SGSM1 gene from 6/22 species (see all 22) About this table
ENSEMBL Gene Tree for SGSM1 (if available)
TreeFam Gene Tree for SGSM1 (if available) |
Paralogs
for SGSM1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SGSM1 gene
- TBC1D172 TBC1D212 SGSM22 TBC1D162 TBC1D152 TBC1D252
4 SIMAP similar genes for SGSM1 using alignment to 1 protein entry: SGSM1_HUMAN:RUTBC2 DKFZp761D0223 RUTBC1 SGSM2
SGSM1 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for SGSM1
PGOHUM00000263069
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Genomic Variants
for SGSM1 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 22 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SGSM1 (25202136 - 25323545 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for SGSM1
2 Indels: 59069 67859 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SGSM1 |
|
Disorders
/ Diseases
for SGSM1 gene
(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
|
 SGSM1 for disorders About MalaCards
SGSM1 for disorders About GeneDecksing
OMIM gene information: 611417
OMIM disorders: --
Human Genome Epidemiology (HuGE) Navigator: SGSM1 (4 documents)
Export disorders for SGSM1 gene to outside databases
|
Publications
for SGSM1 gene (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 SGSM1 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with SGSM1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway. (PubMed id 17509819)1, 2, 3 Yang H....Shimizu N. (2007)
- Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PubMed id 11853319)1, 2, 3 Nagase T.... Ohara O. (2001)
- RUTBC2 protein, a Rab9A effector and GTPase-activating protein for Rab36. (PubMed id 22637480)1 Nottingham R.M....Pfeffer S.R. (2012)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
- Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
- Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PubMed id 19077034)1 Ishibashi K.... Fukuda M. (2009)
- 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. (2004)
- 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. (2002)
- The DNA sequence of human chromosome 22. (PubMed id 10591208)2 Dunham I....O'Brien K.P. (1999)
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External Searches for SGSM1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing SGSM1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SGSM1 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing SGSM1 gene(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 SGSM1 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for SGSM1 gene:
Search GeneIP for patents involving SGSM1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SGSM1 gene(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
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for SGSM1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SGSM1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SGSM1 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SGSM1 | | OriGene 3'-UTR Clone for SGSM1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SGSM1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SGSM1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for SGSM1 | | OriGene Custom Protein Services for SGSM1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SGSM1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SGSM1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SGSM1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SGSM1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SGSM1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SGSM1 |
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| | | | Search Tocris compounds for SGSM1 |
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 | | | SGSM1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGSM1 |
|  |  |  | | | | Search ThermoFisher Antibodies for SGSM1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGSM1 |
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