STON1 Gene
protein-coding GIFtS: 41
GCID: GC02P048785
|
|
stonin 1
| |
Aliases
for STON1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Stonin 11 2 | | STN12 3 | | SBLF1 2 3 | | STNB12 | | Stoned-B11 | | Stoned B Homolog 12 | | Stoned B-Like Factor2 3 | | Stonin-11 | | SALF2 3 | | |
Export aliases for STON1 gene to outside databasesPrevious GC identifers: GC02P048661 GC02P048611 GC02P048760 GC02P048763 GC02P048767 GC02P048773 GC02P048776 GC02P048779 |
Summaries
for STON1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for STON1:
Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surfaceof the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein.This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of anN-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and aC-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Read-through transcription of thisgene into the neighboring downstream gene, which encodes TFIIA-alpha/beta-like factor, generates a transcript (SALF),which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. Alternativesplicing results in multiple transcript variants. (provided by RefSeq, Oct 2010)
UniProtKB/Swiss-Prot: STON1_HUMAN, Q9Y6Q2Function: May be involved in the endocytic machinery (By similarity)
|
Genomic Views
for STON1 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_000002.11 NC_018913.1 NT_022184.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the STON1 gene promoter:
c-Fos Sox5 AML1a AP-1 LCR-F1 HNF-3beta HNF-1A PPAR-alpha HNF-1 c-Jun
Other transcription factors
Search SABiosciences Chromatin IP Primers for STON1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STON1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2p16.3 Ensembl cytogenetic band: 2p16.3 HGNC cytogenetic band: 2p16.3STON1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P048785: view genomic region
(about GC identifiers)
Start:
|
48,756,522 bp from pter |
End:
|
48,826,045 bp from pter |
Size:
|
69,524 bases |
Orientation:
|
plus strand |
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Proteins
for STON1 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: STON1_HUMAN, Q9Y6Q2 (See
protein sequence)Recommended Name: Stonin-1 Size: 735 amino acids; 83141 Da
Subcellular location: Cytoplasm. Membrane. Note=Some fraction is membrane-associated
Miscellaneous: In contrast to other members of the family, it does not contain NPF (Asn-Pro-Phe) sites and thereby doesnot interact with EPS15, EPS15R and ITSN1
Sequence caution: Sequence=AAD39617.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. The biological existence andrelevance of this product of both SALF and GTF2A1LF (AC Q9UNN4) genes, which codes for a chimeric protein of 1182residues is uncertain;
Secondary accessions: A8MXJ1 B5MCF5 B7ZL16 Q96JE3 Q9BYX3Alternative splicing: 3 isoforms: Q9Y6Q2-1 Q9Y6Q2-2 Q9Y6Q2-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for STON1: NX_Q9Y6Q2
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y6Q2
STON1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001185524.1 NP_006864.2
ENSEMBL proteins: ENSP00000385273 ENSP00000384615 ENSP00000399868 ENSP00000310969
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:0030131 | clathrin adaptor complex |
IEA | -- |
STON1 for ontologies About GeneDecksing
STON1 Antibody Products:
Assay Products for STON1: |
Protein
Domains /
Families
for STON1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
STON1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9Y6Q2ProtoNet protein and cluster: Q9Y6Q2 1 Blocks protein family: IPB004855 Transcription factor IIA
UniProtKB/Swiss-Prot: STON1_HUMAN, Q9Y6Q2Similarity: Belongs to the Stoned B familySimilarity: Contains 1 MHD (mu homology) domainSimilarity: Contains 1 SHD (stonin homology) domain |
Function
for STON1 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
|
Function Summary:
UniProtKB/Swiss-Prot: STON1_HUMAN, Q9Y6Q2Function: May be involved in the endocytic machinery (By similarity)
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 STON1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for STON1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STON1 |
|
Pathways & Interactions
for STON1 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 STON1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/41 Interacting proteins for STON1 (ENSP000003109694) via UniProtKB, MINT, STRING, and/or I2D (see all 41)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
STON1 for ontologies About GeneDecksing
|
Drugs & Compounds
for STON1 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 STON1
Search CenterWatch for drugs/clinical trials and news about STON1
|
Transcripts
for STON1 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 STON1 gene (2 alternative transcripts): NM_001198595.1 NM_006873.3 Unigene Cluster for STON1: Stonin 1 Hs.44385 [show with all ESTs]Unigene Representative Sequence: AK0236175 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000484110 ENST00000404752(uc010fbm.3) ENST00000406226(uc002rwo.4)
ENST00000444932 ENST00000309835
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for STON1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for STON1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): STON1 (NM_006873) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for STON1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STON1 |
Additional cDNA sequence: AK023617.1 AL080210.1 2 DOTS entries: DT.70104014 DT.112774 24/139 AceView cDNA sequences (see all 139): CN480994 NM_172311 AW294274 CA419207 AW129964 NM_006873 NM_172196 BU738931 BM676739 AW068983 BF436701 BF792128 AF255310 BQ639031 CR604481 AU138011 NM_006872 AK023617 BC025991 AA496951 BP374692 AA366842 CD558013 AY026319
GeneLoc Exon Structure
|
Expression
for STON1 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
| STON1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See STON1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for STON1
SOURCE GeneReport for Unigene cluster: Hs.44385
UniProtKB/Swiss-Prot: STON1_HUMAN, Q9Y6Q2Tissue specificity: Ubiquitous
SABiosciences Custom PCR Arrays for STON1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for STON1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat STON1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STON1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STON1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STON1 |
Orthologs
for STON1 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 animals.
Orthologs for STON1 gene from 5/18 species (see all 18) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
STON11 |
stonin 1 |
74.62(n)
77.37(a) |
|
100534590 NM_001204865.1 NP_001191794.1 |
lizard
(Anolis carolinensis) |
Reptilia |
-- |
-- |
65(a) |
1 → many |
1(255548147-255564431) |
zebrafish
(Danio rerio) |
Actinopterygii |
zgc:1541006 |
zgc:154100 |
22(a) |
1 → many |
13(91414-100201) |
fruit fly
(Drosophila melanogaster) |
Insecta |
stnB6 |
stoned B |
13(a) |
1 → many |
X(22382558-22406483) |
worm
(Caenorhabditis elegans) |
Secernentea |
unc-416 |
Putative stoned B-like protein |
11(a) |
1 → many |
V(9966380-9976202) |
ENSEMBL Gene Tree for STON1 (if available)
TreeFam Gene Tree for STON1 (if available) |
Paralogs
for STON1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for STON1 gene
- STON22 GTF2A1L2 GTF2A12 STON1-GTF2A1L2
3 SIMAP similar genes for STON1 using alignment to 4 protein entries: STON1_HUMAN (see all proteins):ALF STON1-GTF2A1L STON2
STON1 for paralogs About GeneDecksing
|
Genomic Variants
for STON1 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 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for STON1 (48756522 - 48826045 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for STON1: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing STON1 |
|
Disorders
/ Diseases
for STON1 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
|
STON1 for disorders About GeneDecksing
OMIM gene information: 605357
OMIM disorders: --
1  disease for STON1: About MalaCardsneuronitis
Export disorders for STON1 gene to outside databases
|
Publications
for STON1 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 STON1 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with STON1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of a general transcription factor TFIIAalpha/beta homolog selectively expressed in testis. (PubMed id 10364255)1, 2, 3 Upadhyaya A.B.... DeJong J. (1999)
- Stonin 2: an adaptor-like protein that interacts with components of the endocytic machinery. (PubMed id 11381094)1, 2, 9 Martina J.A.... Bonifacino J.S. (2001)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Functional dissection of a eukaryotic dicistronic gene: transgenic stonedB, but not stonedA, restores normal synaptic properties to Drosophila stoned mutants. (PubMed id 14504226)1, 3 Estes P.S....Ramaswami M. (2003)
- TFIIAalpha/beta-like factor is encoded by a germ cell-specific gene whose expression is up-regulated with other general transcription factors during spermatogenesis in the mouse. (PubMed id 11159353)1, 2 Han S.... DeJong J. (2001)
- Stonins--specialized adaptors for synaptic vesicle re cycling and beyond? (PubMed id 19732400)1, 9 Maritzen T....Haucke V. (2010)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
- 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)
|
External Searches for STON1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing STON1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing STON1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing STON1 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 STON1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for STON1 gene:
Search GeneIP for patents involving STON1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for STON1 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 STON1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for STON1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for STON1 | | | OriGene Protein Over-expression Lysate for STON1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for STON1 | | OriGene 3'-UTR Clone for STON1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for STON1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for STON1 | | | 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 | | | OriGene Purified Protein for STON1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for STON1 | | OriGene Custom Protein Services for STON1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat STON1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing STON1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STON1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STON1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STON1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STON1 |
| |
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| | | | Search Tocris compounds for STON1 |
| |  |  |  |  | | | | |
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 |
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 | | | STON1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STON1 |
|  |  |  | | | | Search ThermoFisher Antibodies for STON1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STON1 |
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