STON1 stonin 1 [Homo sapiens (human)] - Gene

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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 2p16.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (48530154..48598513)
RS_2023_10	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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Integrated analysis of the relation to tumor immune microenvironment and predicted value of Stonin1 gene for immune checkpoint blockage and targeted treatment in kidney renal clear cell carcinoma.
Title: Integrated analysis of the relation to tumor immune microenvironment and predicted value of Stonin1 gene for immune checkpoint blockage and targeted treatment in kidney renal clear cell carcinoma.
Three-Dimensional Genome Interactions Identify Potential Adipocyte Metabolism-Associated Gene STON1 and Immune-Correlated Gene FSHR at the rs13405728 Locus in Polycystic Ovary Syndrome.
Title: Three-Dimensional Genome Interactions Identify Potential Adipocyte Metabolism-Associated Gene STON1 and Immune-Correlated Gene FSHR at the rs13405728 Locus in Polycystic Ovary Syndrome.
Functional analysis of an homologous Drosophila gene.
Title: Functional dissection of a eukaryotic dicistronic gene: transgenic stonedB, but not stonedA, restores normal synaptic properties to Drosophila stoned mutants.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Readthrough STON1-GTF2A1L

Readthrough gene: STON1-GTF2A1L, Included gene: GTF2A1L

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

Process	Evidence Code	Pubs
involved_in clathrin-dependent endocytosis	IBA Inferred from Biological aspect of Ancestor more info
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
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

Component	Evidence Code	Pubs
part_of AP-2 adaptor complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cell leading edge	IEA Inferred from Electronic Annotation more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

Preferred Names: stonin-1

Names: stoned B homolog 1; stoned B-like factor; stoned-b1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

NM_001198595.2 → NP_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

A0A0A6YYH4, A8MXJ1, B5MCF5, B7ZL16, Q96JE3, Q9BYX3, Q9Y6Q2

UniProtKB/TrEMBL

Q0VAG8

Related

ENSP00000384615.1, ENST00000406226.1

Conserved Domains (1) summary

cd09262
Location:403 → 716

AP_stonin-1_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-1 (also called Stoned B-like factor)
NM_006873.4 → NP_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

A0A0A6YYH4, A8MXJ1, B5MCF5, B7ZL16, Q96JE3, Q9BYX3, Q9Y6Q2

UniProtKB/TrEMBL

Q0VAG8

Related

ENSP00000385273.1, ENST00000404752.6

Conserved Domains (1) summary

cd09262
Location:403 → 716

AP_stonin-1_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-1 (also called Stoned B-like factor)