1. Gene
  2. STON1 - stonin 1 Gene

STON1 - stonin 1 Gene

中文名称:石宁 1

种属: Homo sapiens

同用名: SALF; SBLF; STN1; STNB1

基因 ID: 11037 | 基因类型: protein coding

关于 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.

功能概要

细胞表面蛋白的内吞作用是由组装在质膜内表面上的复杂分子机制介导的。该基因编码 Drosophila melanogaster stoned B 蛋白的两个人类同系物之一。这种蛋白质与内吞机制的成分有关,并表现出模块化结构,包括一个 N 末端富含脯氨酸的结构域、一个与人类 stoneed B 样蛋白质特异的同源中心区域,以及一个与衔接蛋白 (AP) 复合物的 mu 亚基。将该基因通读转录到邻近的下游基因中,该基因编码 TFIIA-alpha/beta 样因子,生成转录本 (SALF) ,该转录本编码由与每个单独基因产物共享同一性的序列组成的融合蛋白。可变剪接导致多个转录本变体。[RefSeq 提供,2010 年 10 月]

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 基因产物(2)

mRNA Protein Name
NM_001198595.2 NP_001185524.1 stonin-1
NM_006873.4 NP_006864.2 stonin-1
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of endocytosis IDA
IDA: 通过直接分析推断
11454741 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

STON1 蛋白结构

Adap_comp_sub

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

  • 0
  • 200
  • 400
  • 600
  • 735 a.a.
蛋白主名 其他名称

stonin-1

stoned B homolog 1

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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