Human Gene STON1 (uc010fbm.3) Description and Page Index
  Description: Homo sapiens stonin 1 (STON1), transcript variant 2, mRNA.
RefSeq Summary (NM_006873): 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].
Transcript (Including UTRs)
   Position: hg19 chr2:48,757,308-48,825,654 Size: 68,347 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr2:48,807,773-48,822,441 Size: 14,669 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:48,757,308-48,825,654)mRNA (may differ from genome)Protein (735 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: STON1_HUMAN
DESCRIPTION: RecName: Full=Stonin-1; AltName: Full=Stoned B-like factor;
FUNCTION: May be involved in the endocytic machinery (By similarity).
SUBCELLULAR LOCATION: Cytoplasm. Membrane. Note=Some fraction is membrane-associated.
TISSUE SPECIFICITY: Ubiquitous.
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.
SIMILARITY: Belongs to the Stoned B family.
SIMILARITY: Contains 1 MHD (mu homology) domain.
SIMILARITY: Contains 1 SHD (stonin homology) domain.
SEQUENCE CAUTION: Sequence=AAD39617.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. The biological existence and relevance of this product of both SALF and GTF2A1LF (AC Q9UNN4) genes, which codes for a chimeric protein of 1182 residues is uncertain;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): STON1
CDC HuGE Published Literature: STON1
Positive Disease Associations: Waist Circumference
Related Studies:
  1. Waist Circumference
    , , . [PubMed 0]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.15 RPKM in Colon - Sigmoid
Total median expression: 355.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.7295-0.250 Picture PostScript Text
3' UTR -879.833213-0.274 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008968 - Clathrin_mu_C
IPR012320 - SHD
IPR017110 - Stonin

Pfam Domains:
PF00928 - Adaptor complexes medium subunit family

SCOP Domains:
49447 - Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor

ModBase Predicted Comparative 3D Structure on Q9Y6Q2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0006897 endocytosis
GO:0030100 regulation of endocytosis

Cellular Component:
GO:0005737 cytoplasm
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK128867 - Homo sapiens cDNA FLJ46838 fis, clone UTERU2035926.
AK309740 - Homo sapiens cDNA, FLJ99781.
AK314464 - Homo sapiens cDNA, FLJ95267, highly similar to Homo sapiens stoned B-like factor (SBLF), mRNA.
CR936807 - Homo sapiens mRNA; cDNA DKFZp781K2462 (from clone DKFZp781K2462).
AF026169 - Homo sapiens SALF (SALF) mRNA, complete cds.
BC101772 - Homo sapiens STON1-GTF2A1L readthrough transcript, mRNA (cDNA clone MGC:126821 IMAGE:8069278), complete cds.
BC101774 - Homo sapiens STON1-GTF2A1L readthrough transcript, mRNA (cDNA clone MGC:126823 IMAGE:8069280), complete cds.
BC143520 - Homo sapiens STON1-GTF2A1L readthrough transcript, mRNA (cDNA clone MGC:177046 IMAGE:9052029), complete cds.
JD306746 - Sequence 287770 from Patent EP1572962.
AF255310 - Homo sapiens stonin 1 mRNA, complete cds.
BC121063 - Homo sapiens stonin 1, mRNA (cDNA clone MGC:149803 IMAGE:40118538), complete cds.
BC121064 - Homo sapiens stonin 1, mRNA (cDNA clone MGC:149804 IMAGE:40118539), complete cds.
AY026319 - Homo sapiens stoned B-like factor SBLF (SBLF) mRNA, complete cds.
BC166659 - Synthetic construct Homo sapiens clone IMAGE:100066385, MGC:195522 stonin 1 (STON1) mRNA, encodes complete protein.
JD507577 - Sequence 488601 from Patent EP1572962.
JD268046 - Sequence 249070 from Patent EP1572962.
JD361023 - Sequence 342047 from Patent EP1572962.
JD396694 - Sequence 377718 from Patent EP1572962.
JD298775 - Sequence 279799 from Patent EP1572962.
JD133552 - Sequence 114576 from Patent EP1572962.
JD197425 - Sequence 178449 from Patent EP1572962.
JD260450 - Sequence 241474 from Patent EP1572962.
AK023617 - Homo sapiens cDNA FLJ13555 fis, clone PLACE1007677.
JD565947 - Sequence 546971 from Patent EP1572962.
JD410837 - Sequence 391861 from Patent EP1572962.
JD557224 - Sequence 538248 from Patent EP1572962.
JD160570 - Sequence 141594 from Patent EP1572962.
JD367291 - Sequence 348315 from Patent EP1572962.
JD326009 - Sequence 307033 from Patent EP1572962.
JD153583 - Sequence 134607 from Patent EP1572962.
JD428262 - Sequence 409286 from Patent EP1572962.
JD293153 - Sequence 274177 from Patent EP1572962.
JD321968 - Sequence 302992 from Patent EP1572962.
JD352776 - Sequence 333800 from Patent EP1572962.
JD220922 - Sequence 201946 from Patent EP1572962.
JD207863 - Sequence 188887 from Patent EP1572962.
JD105067 - Sequence 86091 from Patent EP1572962.
JD460020 - Sequence 441044 from Patent EP1572962.
JD323804 - Sequence 304828 from Patent EP1572962.
JD146001 - Sequence 127025 from Patent EP1572962.
JD072180 - Sequence 53204 from Patent EP1572962.
JD373640 - Sequence 354664 from Patent EP1572962.
JD309957 - Sequence 290981 from Patent EP1572962.
JD365063 - Sequence 346087 from Patent EP1572962.
JD354343 - Sequence 335367 from Patent EP1572962.
JD240576 - Sequence 221600 from Patent EP1572962.
JD316797 - Sequence 297821 from Patent EP1572962.
JD217903 - Sequence 198927 from Patent EP1572962.
JD348383 - Sequence 329407 from Patent EP1572962.
JD503146 - Sequence 484170 from Patent EP1572962.
JD458738 - Sequence 439762 from Patent EP1572962.
JD046831 - Sequence 27855 from Patent EP1572962.
JD345800 - Sequence 326824 from Patent EP1572962.
JD377028 - Sequence 358052 from Patent EP1572962.
JD220849 - Sequence 201873 from Patent EP1572962.
JD255098 - Sequence 236122 from Patent EP1572962.
JD390441 - Sequence 371465 from Patent EP1572962.
JD344534 - Sequence 325558 from Patent EP1572962.
JD395696 - Sequence 376720 from Patent EP1572962.
JD287981 - Sequence 269005 from Patent EP1572962.
JD528004 - Sequence 509028 from Patent EP1572962.
JD472724 - Sequence 453748 from Patent EP1572962.
JD481657 - Sequence 462681 from Patent EP1572962.
JD310586 - Sequence 291610 from Patent EP1572962.
JD048700 - Sequence 29724 from Patent EP1572962.
JD111978 - Sequence 93002 from Patent EP1572962.
JD291257 - Sequence 272281 from Patent EP1572962.
JD508897 - Sequence 489921 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03022 - Basal transcription factors

Reactome (by CSHL, EBI, and GO)

Protein Q9Y6Q2 (Reactome details) participates in the following event(s):

R-HSA-8863463 STON2 binds SYT proteins
R-HSA-8863721 NEDD8-STON binds TOR1 hexamer and COP9 complex
R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit
R-HSA-8868071 Clathrin recruits PIK3C2A
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: NM_006873, NP_006864, Q96JE3, Q9BYX3, Q9Y6Q2, SALF, SBLF, STN1, STON1_HUMAN
UCSC ID: uc010fbm.3
RefSeq Accession: NM_006873
Protein: Q9Y6Q2 (aka STON1_HUMAN)
CCDS: CCDS1841.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_006873.3
exon count: 4CDS single in 3' UTR: no RNA size: 5534
ORF size: 2208CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3782.00frame shift in genome: no % Coverage: 99.67
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.