1. Gene
  2. STON1 - stonin 1 Gene

STON1 - stonin 1 Gene

Homo sapiens

Also known as SALF; SBLF; STN1; STNB1

Gene ID: 11037 | Gene type: protein coding

About STON1

Cytogenetic location: 2p16.3 Genomic coordinates (GRCh38): 2:48,530,154-48,598,513 (from NCBI)

This gene has 5 transcripts (splice variants), 196 orthologues and 7 paralogues. Broad expression in endometrium (RPKM 13.8), ovary (RPKM 13.3) and 21 other tissues.

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]

STON1 Products(2)

mRNA Protein Name
NM_001198595.2 NP_001185524.1 stonin-1
NM_006873.4 NP_006864.2 stonin-1
Gene Ontology
  • Biological Process
Biological Process GO Annotation Evidence Reference Source
involved in regulation of endocytosis IDA
IDA: Inferred from direct assay
11454741 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

STON1 Protein Structure

Adap_comp_sub

Adap_comp_sub: Adaptor complexes medium subunit family (402 - 711)

  • 0
  • 200
  • 400
  • 600
  • 735 a.a.
Protein Preferred Names Protein Names

stonin-1

stoned B homolog 1

Related Diseases

Diseases Alias
Bardet-Biedl Syndrome 9

BBS9

Bardet-Biedl Syndrome, Type 9

Peliosis Hepatis

Hepatic Peliosis

Telangiectasis Of Liver

Angiomatosis Of Liver

Ph - [Peliosis Hepatis]

Hepatic Angiomatosis

Trichomoniasis

Trichomonas Infection

Trichomonas Infections

Disease Due To Trichomonadidae

Infection By Trichomonas

Trichomonadosis

Trichomonas Pruritus

Trichomonosis

Tricomoniasis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus STON1 MGD MGI:1924307
Rattus norvegicus STON1 RGD RGD:727878
Felis catus STON1 VGNC VGNC:108170
Bos taurus STON1 VGNC VGNC:108169