Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of 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 an N-terminal proline-rich domain... See more...

Aliases for STON1 Gene

Aliases for STON1 Gene

  • Stonin 1 2 3 5
  • Stoned B-Like Factor 3 4
  • Stonin-1 3 4
  • SALF 3 4
  • SBLF 3 4
  • STN1 3 4
  • Stoned B Homolog 1 (Drosophila) 2
  • Stoned B Homolog 1 3
  • Stoned-B1 3
  • STNB1 3

External Ids for STON1 Gene

Previous GeneCards Identifiers for STON1 Gene

  • GC02P048661
  • GC02P048611
  • GC02P048760
  • GC02P048763
  • GC02P048767
  • GC02P048773
  • GC02P048776
  • GC02P048779
  • GC02P048785
  • GC02P048788

Summaries for STON1 Gene

Entrez Gene Summary for STON1 Gene

  • Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of 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 an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Read-through transcription of this gene 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

GeneCards Summary for STON1 Gene

STON1 (Stonin 1) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. An important paralog of this gene is STON1-GTF2A1L.

UniProtKB/Swiss-Prot Summary for STON1 Gene

Additional gene information for STON1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STON1 Gene

Genomics for STON1 Gene

GeneHancer (GH) Regulatory Elements for STON1 Gene

Promoters and enhancers for STON1 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
GH02J048529 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 505.1 +1.1 1110 3.4 TEAD4 ZIC2 ZBTB10 ZNF263 ZNF423 ZNF623 ZBTB26 TRIM28 SAP30 RFX1 STON1 STON1-GTF2A1L PPP1R21 FOXN2 ENSG00000272663 GTF2A1L lnc-STON1-1 RF00017-3186
GH02J048527 Enhancer 0.4 ENCODE dbSUPER 507.2 -1.5 -1506 1.4 PKNOX1 STON1 GTF2A1L PPP1R21 lnc-STON1-1
GH02J048595 Promoter 0.3 EPDnew 500.2 +65.8 65836 0.1 STON1 GTF2A1L piR-35674-279 piR-43583-298 STON1-GTF2A1L
GH02J048597 Promoter 0.3 EPDnew 500.2 +68.1 68137 0.1 STON1 STON1-GTF2A1L piR-35674-279 piR-43583-298
GH02J047781 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.6 -745.8 -745761 3.6 ZBTB40 EP300 SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 PHF8 ZFX MSH6 ENSG00000230979 ENSG00000225187 STON1 ENSG00000233845 ENSG00000283502 lnc-KCNK12-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STON1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STON1

Top Transcription factor binding sites by QIAGEN in the STON1 gene promoter:
  • AML1a
  • AP-1
  • c-Fos
  • c-Jun
  • HNF-1
  • HNF-1A
  • HNF-3beta
  • LCR-F1
  • PPAR-alpha
  • Sox5

Genomic Locations for STON1 Gene

Genomic Locations for STON1 Gene
chr2:48,529,383-48,598,515
(GRCh38/hg38)
Size:
69,133 bases
Orientation:
Plus strand
chr2:48,756,522-48,826,025
(GRCh37/hg19)
Size:
69,504 bases
Orientation:
Plus strand

Genomic View for STON1 Gene

Genes around STON1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STON1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STON1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STON1 Gene

Proteins for STON1 Gene

  • Protein details for STON1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6Q2-STON1_HUMAN
    Recommended name:
    Stonin-1
    Protein Accession:
    Q9Y6Q2
    Secondary Accessions:
    • A0A0A6YYH4
    • A8MXJ1
    • B5MCF5
    • B7ZL16
    • Q96JE3
    • Q9BYX3

    Protein attributes for STON1 Gene

    Size:
    735 amino acids
    Molecular mass:
    83141 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • In contrast to other members of the family, it does not contain NPF (Asn-Pro-Phe) sites and thereby does not interact with EPS15, EPS15R and ITSN1.
    SequenceCaution:
    • Sequence=AAD39617.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. The in vivo relevance of this transcript of the STON1 and GTF2A1L (AC Q9UNN4) genes creating a chimeric protein of 1182 residues is uncertain.; Evidence={ECO:0000305};

    Alternative splice isoforms for STON1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STON1 Gene

Post-translational modifications for STON1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for STON1 Gene

No data available for DME Specific Peptides for STON1 Gene

Domains & Families for STON1 Gene

Gene Families for STON1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for STON1 Gene

Blocks:
  • Transcription factor IIA, alpha/beta subunit
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for STON1 Gene

GenScript: Design optimal peptide antigens:
  • STON1 protein (Q0VAG7_HUMAN)
  • STON1 protein (Q0VAG8_HUMAN)
  • Stoned B-like factor (STON1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6Q2

UniProtKB/Swiss-Prot:

STON1_HUMAN :
  • Belongs to the Stoned B family.
Family:
  • Belongs to the Stoned B family.
genes like me logo Genes that share domains with STON1: view

Function for STON1 Gene

Molecular function for STON1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the endocytic machinery.

Phenotypes From GWAS Catalog for STON1 Gene

genes like me logo Genes that share phenotypes with STON1: view

Animal Models for STON1 Gene

MGI Knock Outs for STON1:

Animal Model Products

miRNA for STON1 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for STON1 Gene

Localization for STON1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STON1 Gene

Cytoplasm. Membrane. Note=Some fraction is membrane-associated.

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 STON1 gene
Compartment Confidence
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1

Gene Ontology (GO) - Cellular Components for STON1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with STON1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for STON1 Gene

Pathways & Interactions for STON1 Gene

genes like me logo Genes that share pathways with STON1: view

Gene Ontology (GO) - Biological Process for STON1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0030100 regulation of endocytosis IDA 11454741
genes like me logo Genes that share ontologies with STON1: view

No data available for SIGNOR curated interactions for STON1 Gene

Drugs & Compounds for STON1 Gene

No Compound Related Data Available

Transcripts for STON1 Gene

mRNA/cDNA for STON1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for STON1 Gene

No ASD Table

Relevant External Links for STON1 Gene

GeneLoc Exon Structure for
STON1

Expression for STON1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STON1 Gene

mRNA differential expression in normal tissues according to GTEx for STON1 Gene

This gene is overexpressed in Colon - Sigmoid (x4.6) and Esophagus - Muscularis (x4.1).

Protein differential expression in normal tissues from HIPED for STON1 Gene

This gene is overexpressed in Plasma (14.1), Heart (13.3), Gallbladder (7.4), and Placenta (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for STON1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STON1

SOURCE GeneReport for Unigene cluster for STON1 Gene:

Hs.44385

mRNA Expression by UniProt/SwissProt for STON1 Gene:

Q9Y6Q2-STON1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for STON1 Gene

  • Heart(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with STON1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for STON1 Gene

Orthologs for STON1 Gene

This gene was present in the common ancestor of animals.

Orthologs for STON1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STON1 31 30
  • 99.32 (n)
OneToOne
dog
(Canis familiaris)
Mammalia STON1 30
  • 88.96 (n)
GTF2A1L 31
  • 64 (a)
OneToMany
cow
(Bos Taurus)
Mammalia STON1 30
  • 88.55 (n)
-- 31
  • 87 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ston1 17 31 30
  • 80.22 (n)
rat
(Rattus norvegicus)
Mammalia Ston1 30
  • 79.95 (n)
oppossum
(Monodelphis domestica)
Mammalia STON1 31
  • 44 (a)
OneToMany
chicken
(Gallus gallus)
Aves STON1 31 30
  • 68.69 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 60 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ston1 30
  • 61.6 (n)
zebrafish
(Danio rerio)
Actinopterygii gtf2a1l 31
  • 23 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta stnB 31
  • 12 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-41 31
  • 9 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5149 31
  • 25 (a)
OneToMany
Species where no ortholog for STON1 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)
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for STON1 Gene

ENSEMBL:
Gene Tree for STON1 (if available)
TreeFam:
Gene Tree for STON1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for STON1: view image

Paralogs for STON1 Gene

Paralogs for STON1 Gene

(3) SIMAP similar genes for STON1 Gene using alignment to 4 proteins:

  • STON1_HUMAN
  • H7C1E2_HUMAN
  • Q0VAG7_HUMAN
  • Q0VAG8_HUMAN
genes like me logo Genes that share paralogs with STON1: view

Variants for STON1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STON1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
722414 Benign: not provided 48,580,986(+) G/T MISSENSE_VARIANT
rs17039250 - p.Lys8Asn
rs3792234 - p.Gln607His
rs3828341 - p.Gln544His
rs940389 - p.Arg127Thr

Additional dbSNP identifiers (rs#s) for STON1 Gene

Structural Variations from Database of Genomic Variants (DGV) for STON1 Gene

Variant ID Type Subtype PubMed ID
dgv1120e212 CNV loss 25503493
esv1298688 CNV deletion 17803354
esv1496764 CNV deletion 17803354
esv1633121 CNV deletion 17803354
esv2354047 CNV deletion 18987734
esv2631205 CNV deletion 19546169
esv2678523 CNV deletion 23128226
esv2720033 CNV deletion 23290073
esv2720034 CNV deletion 23290073
esv2844569 CNV deletion 24192839
esv3556321 CNV deletion 23714750
esv3590653 CNV loss 21293372
esv3590654 CNV gain 21293372
esv3660 CNV loss 18987735
esv8396 CNV loss 19470904
esv990475 CNV deletion 20482838
nsv1000419 CNV loss 25217958
nsv1002793 CNV gain 25217958
nsv1071992 CNV deletion 25765185
nsv1126549 CNV deletion 24896259
nsv1151004 CNV deletion 26484159
nsv581776 CNV loss 21841781
nsv829197 CNV gain 20364138
nsv833981 CNV loss 17160897
nsv833992 CNV gain 17160897
nsv954153 CNV deletion 24416366
nsv954239 CNV deletion 24416366

Variation tolerance for STON1 Gene

Residual Variation Intolerance Score: 81.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.16; 23.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STON1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
STON1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STON1 Gene

Disorders for STON1 Gene

Additional Disease Information for STON1

No disorders were found for STON1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for STON1 Gene

Publications for STON1 Gene

  1. Stonin 2: an adaptor-like protein that interacts with components of the endocytic machinery. (PMID: 11381094) Martina JA … Bonifacino JS (The Journal of cell biology 2001) 3 4 23 54
  2. Identification of a general transcription factor TFIIAalpha/beta homolog selectively expressed in testis. (PMID: 10364255) Upadhyaya AB … DeJong J (The Journal of biological chemistry 1999) 2 3 4 54
  3. Stonins--specialized adaptors for synaptic vesicle recycling and beyond? (PMID: 19732400) Maritzen T … Haucke V (Traffic (Copenhagen, Denmark) 2010) 3 23 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Functional dissection of a eukaryotic dicistronic gene: transgenic stonedB, but not stonedA, restores normal synaptic properties to Drosophila stoned mutants. (PMID: 14504226) Estes PS … Ramaswami M (Genetics 2003) 2 3 54

Products for STON1 Gene

Sources for STON1 Gene