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STON1 stonin 1 [ Homo sapiens (human) ]

Gene ID: 11037, updated on 6-Sep-2022

Summary

Official Symbol
STON1provided by HGNC
Official Full Name
stonin 1provided by HGNC
Primary source
HGNC:HGNC:17003
See related
Ensembl:ENSG00000243244 MIM:605357; AllianceGenome:HGNC:17003
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SALF; SBLF; STN1; STNB1
Summary
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]
Expression
Broad expression in endometrium (RPKM 13.8), ovary (RPKM 13.3) and 21 other tissues See more
Orthologs
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Genomic context

See STON1 in Genome Data Viewer
Location:
2p16.3
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (48530154..48598513)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (48536051..48601303)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (48757293..48825652)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene forkhead box N2 Neighboring gene RNA, U4 small nuclear 49, pseudogene Neighboring gene protein phosphatase 1 regulatory subunit 21 Neighboring gene RNA, U6 small nuclear 282, pseudogene Neighboring gene STON1-GTF2A1L readthrough Neighboring gene general transcription factor IIA subunit 1 like Neighboring gene TPT1 pseudogene 11 Neighboring gene luteinizing hormone/choriogonadotropin receptor

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough STON1-GTF2A1L

Readthrough gene: STON1-GTF2A1L, Included gene: GTF2A1L

Homology

Clone Names

  • FLJ95267, MGC149803, MGC149804, DKFZp781K2462

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables clathrin adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in focal adhesion assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in focal adhesion disassembly IEA
Inferred from Electronic Annotation
more info
 
involved_in platelet-derived growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of endocytosis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ruffle assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in substrate-dependent cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in synaptic vesicle endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cell leading edge IEA
Inferred from Electronic Annotation
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in clathrin-coated pit IEA
Inferred from Electronic Annotation
more info
 
is_active_in clathrin-coated vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
stonin-1
Names
stoned B homolog 1
stoned B-like factor
stoned-b1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001198595.2NP_001185524.1  stonin-1

    See identical proteins and their annotated locations for NP_001185524.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC073082, AF255310, BM974074, DB288942
    Consensus CDS
    CCDS1841.1
    UniProtKB/Swiss-Prot
    Q9BYX3, Q9Y6Q2
    Related
    ENSP00000384615.1, ENST00000406226.1
    Conserved Domains (1) summary
    cd09262
    Location:403716
    AP_stonin-1_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-1 (also called Stoned B-like factor)
  2. NM_006873.4NP_006864.2  stonin-1

    See identical proteins and their annotated locations for NP_006864.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC073082, AF255310, AK314464, BM974074
    Consensus CDS
    CCDS1841.1
    UniProtKB/Swiss-Prot
    Q9BYX3, Q9Y6Q2
    UniProtKB/TrEMBL
    B2RB25
    Related
    ENSP00000385273.1, ENST00000404752.6
    Conserved Domains (1) summary
    cd09262
    Location:403716
    AP_stonin-1_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-1 (also called Stoned B-like factor)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    48530154..48598513
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    48536051..48601303
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)