Free for academic non-profit institutions. Other users need a Commercial license

Aliases for STON1 Gene

Aliases for STON1 Gene

  • Stonin 1 2 3 5
  • Stoned B-Like Factor 3 4
  • STN1 3 4
  • SALF 3 4
  • SBLF 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. An important paralog of this gene is GTF2A1L.

UniProtKB/Swiss-Prot for STON1 Gene

  • May be involved in the endocytic machinery.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STON1 Gene

Genomics for STON1 Gene

Regulatory Elements for STON1 Gene

Enhancers for STON1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around STON1 on UCSC Golden Path with GeneCards custom track

Promoters for STON1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around STON1 on UCSC Golden Path with GeneCards custom track

Genomic Location for STON1 Gene

48,529,383 bp from pter
48,598,515 bp from pter
69,133 bases
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:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A8MXJ1
    • B5MCF5
    • B7ZL16
    • Q96JE3
    • Q9BYX3

    Protein attributes for STON1 Gene

    735 amino acids
    Molecular mass:
    83141 Da
    Quaternary structure:
    No Data Available
    • 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.
    • 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


neXtProt entry for STON1 Gene

Proteomics data for STON1 Gene at MOPED

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

Protein Domains for STON1 Gene

Suggested Antigen Peptide Sequences for STON1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 MHD (mu homology) domain.
  • Belongs to the Stoned B family.
  • Contains 1 MHD (mu homology) domain.
  • Contains 1 SHD (stonin homology) domain.
  • Belongs to the Stoned B family.
genes like me logo Genes that share domains with STON1: view

No data available for Gene Families for STON1 Gene

Function for STON1 Gene

Molecular function for STON1 Gene

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

Phenotypes for STON1 Gene

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

Animal Model Products

miRNA for STON1 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , 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

Jensen Localization Image for STON1 Gene COMPARTMENTS Subcellular localization image for STON1 gene
Compartment Confidence
cytosol 3
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for STON1 Gene

Pathways & Interactions for STON1 Gene

SuperPathways for STON1 Gene

No Data Available

Interacting Proteins for STON1 Gene

Gene Ontology (GO) - Biological Process for STON1 Gene


No data available for Pathways by source and SIGNOR curated interactions for STON1 Gene

Drugs & Compounds for STON1 Gene

No Compound Related Data Available

Transcripts for STON1 Gene

Unigene Clusters for STON1 Gene

Stonin 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for STON1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for STON1 Gene

mRNA expression in normal human tissues 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

SOURCE GeneReport for Unigene cluster for STON1 Gene Hs.44385

mRNA Expression by UniProt/SwissProt for STON1 Gene

Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with STON1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners 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
(Bos Taurus)
Mammalia STON1 35
  • 88.55 (n)
  • 87.28 (a)
-- 36
  • 87 (a)
(Canis familiaris)
Mammalia STON1 35
  • 88.96 (n)
  • 88.15 (a)
GTF2A1L 36
  • 64 (a)
(Mus musculus)
Mammalia Ston1 35
  • 80.22 (n)
  • 77.34 (a)
Ston1 16
Ston1 36
  • 77 (a)
(Pan troglodytes)
Mammalia STON1 35
  • 99.32 (n)
  • 98.91 (a)
STON1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Ston1 35
  • 79.95 (n)
  • 77.61 (a)
(Monodelphis domestica)
Mammalia STON1 36
  • 44 (a)
(Gallus gallus)
Aves STON1 35
  • 68.69 (n)
  • 67.68 (a)
STON1 36
  • 73 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 60 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ston1 35
  • 61.6 (n)
  • 57.52 (a)
(Danio rerio)
Actinopterygii gtf2a1l 36
  • 23 (a)
fruit fly
(Drosophila melanogaster)
Insecta stnB 36
  • 12 (a)
(Caenorhabditis elegans)
Secernentea unc-41 36
  • 9 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5149 36
  • 25 (a)
Species with no ortholog for STON1:
  • 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

Gene Tree for STON1 (if available)
Gene Tree for STON1 (if available)

Paralogs for STON1 Gene

Paralogs for STON1 Gene

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

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

Variants for STON1 Gene

Sequence variations from dbSNP and Humsavar for STON1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_020183 -
VAR_020184 -
VAR_020185 -
VAR_052156 -

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

Variant ID Type Subtype PubMed ID
nsv833981 CNV Loss 17160897
esv2631205 CNV Deletion 19546169
esv990475 CNV Deletion 20482838
esv2354047 CNV Deletion 18987734
esv2720033 CNV Deletion 23290073
esv3660 CNV Deletion 18987735
esv8396 CNV Loss 19470904
esv2678523 CNV Deletion 23128226
esv1633121 CNV Deletion 17803354
esv2720034 CNV Deletion 23290073
esv1496764 CNV Deletion 17803354
esv1298688 CNV Deletion 17803354
nsv829197 CNV Gain 20364138
nsv833992 CNV Gain 17160897

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for STON1 Gene

Disorders for STON1 Gene

Relevant External Links for STON1

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

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. Identification of a general transcription factor TFIIAalpha/beta homolog selectively expressed in testis. (PMID: 10364255) Upadhyaya A.B. … DeJong J. (J. Biol. Chem. 1999) 2 3 4 67
  2. Stonins--specialized adaptors for synaptic vesicle recycling and beyond? (PMID: 19732400) Maritzen T. … Haucke V. (Traffic 2010) 3 23
  3. Functional dissection of a eukaryotic dicistronic gene: transgenic stonedB, but not stonedA, restores normal synaptic properties to Drosophila stoned mutants. (PMID: 14504226) Estes P.S. … Ramaswami M. (Genetics 2003) 2 3
  4. Stonin 2: an adaptor-like protein that interacts with components of the endocytic machinery. (PMID: 11381094) Martina J.A. … Bonifacino J.S. (J. Cell Biol. 2001) 3 23
  5. Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. (PMID: 24529757) Xie T. … Xu R. (Neurobiol. Aging 2014) 3

Products for STON1 Gene

Sources for STON1 Gene