1. Gene
  2. STEEP1 - STING1 ER exit protein 1 Gene

STEEP1 - STING1 ER exit protein 1 Gene

中文名称:STING1 ER 出口蛋白 1

种属: Homo sapiens

同用名: STEEP; MRX107; CXorf56; XLID107

基因 ID: 63932 | 基因类型: protein coding

关于 STEEP1

Cytogenetic location: Xq24 Genomic coordinates (GRCh38): X:119,538,149-119,565,409 (from NCBI)

This gene has 4 transcripts (splice variants), 204 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 6.7), fat (RPKM 5.9) and 25 other tissues.

功能概要

虽然该基因得到转录数据的充分支持,但目前尚无关于其蛋白质产品的功能信息。已发现该基因的三个转录变体编码不同的亚型。[RefSeq 提供,2009 年 12 月]

While this gene is well-supported by transcript data, no functional information on its protein products is currently available. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

STEEP1 基因产物(3)

mRNA Protein Name
NM_001170569.1 NP_001164040.1 STING ER exit protein isoform 2
NM_001170570.2 NP_001164041.1 STING ER exit protein isoform 3
NM_022101.4 NP_071384.1 STING ER exit protein isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables protein-macromolecule adaptor activity IDA
IDA: 通过直接分析推断
32690950 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in endoplasmic reticulum membrane organization IDA
IDA: 通过直接分析推断
32690950 GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport IDA
IDA: 通过直接分析推断
32690950 GOA
involved in protein exit from endoplasmic reticulum IDA
IDA: 通过直接分析推断
32690950 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
32690950 GOA
is active in endoplasmic reticulum IDA
IDA: 通过直接分析推断
37832545 GOA
is active in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
32690950 GOA
located in nucleus IDA
IDA: 通过直接分析推断
29374277 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
蛋白主名 其他名称

STING ER exit protein

UPF0428 protein CXorf56

STEEP1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
STEEP1 Q9H5V9 RPRD1B Homo sapiens Q9NQG5 32296183
种属内
STEEP1 Q9H5V9 KIF9 Homo sapiens Q9HAQ2 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, X-Linked 107

XLID107

Mrx107

Mental Retardation, X-Linked 107

Mental Retardation, X-Linked, Type 107

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

Non-Syndromic X-Linked Intellectual Disability 107

Mrx107

X-Linked Mental Retardation 107

Syndromic X-Linked Intellectual Disability Shashi Type

Mental Retardation, X-Linked, Syndromic 11, Shashi Type

Mrxs11

Shashi X-Linked Mental Retardation Syndrome

Smrxs

Syndromic X-Linked Intellectual Disability Type 11

X-Linked Mental Retardation Shashi Type

Mental Retardation, X-Linked, Syndromic 11

Body Dysmorphic Disorder

Dysmorphophobia

Body Dysmorphia

Dysmorphic Syndrome

Body Dysmorphic Disorders

Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

EDMD4

Emery-Dreifuss Muscular Dystrophy 4 With Variable Features

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4

Emd4

Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant

Emery-Dreifuss Muscular Dystrophy 4

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
Macaca mulatta STEEP1 VGNC VGNC:71588
Bos taurus STEEP1 VGNC VGNC:52759
Canis familiaris STEEP1 VGNC VGNC:54130
Rattus norvegicus STEEP1 RGD RGD:1564541
Mus musculus STEEP1 MGD MGI:1924894