2. Gene
  3. SRP54 - signal recognition particle 54 Gene

SRP54 - signal recognition particle 54 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：信号识别粒子 54

种属: Homo sapiens

同用名: SCN8

基因 ID: 6729 | 基因类型: protein coding

关于 SRP54

Cytogenetic location: 14q13.2 Genomic coordinates (GRCh38): 14:34,982,992-35,029,567 (from NCBI)

This gene has 23 transcripts (splice variants), 217 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in testis (RPKM 26.2), thyroid (RPKM 18.4) and 25 other tissues.

功能概要

启用多种功能，包括 7S RNA 结合活性；内质网信号肽结合活性；和胍基核糖核苷酸结合活性。有助于 GTPase 活性。参与粒细胞分化和蛋白质靶向 ER。位于细胞质和细胞核中。部分信号识别颗粒，内质网靶向。涉及严重的先天性中性粒细胞减少症 8。[由基因组资源联盟提供，2022 年 4 月]

Enables several functions, including 7S RNA binding activity; endoplasmic reticulum signal peptide binding activity; and guanyl ribonucleotide binding activity. Contributes to GTPase activity. Involved in granulocyte differentiation and protein targeting to ER. Located in cytosol and nucleus. Part of signal recognition particle, endoplasmic reticulum targeting. Implicated in severe congenital neutropenia 8. [provided by Alliance of Genome Resources, Apr 2022]

SRP54 基因产物(3)

mRNA Protein Name
NM_001146282.2 NP_001139754.1 signal recognition particle 54 kDa protein isoform 2
NM_001411017.1 NP_001397946.1 signal recognition particle 54 kDa protein isoform 3
NM_003136.4 NP_003127.1 signal recognition particle 54 kDa 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 7S RNA binding IDA
IDA: 通过直接分析推断
9511762 GOA
enables GDP binding IDA
IDA: 通过直接分析推断
8622769 GOA
enables GTP binding IDA
IDA: 通过直接分析推断
8622769 GOA
contributes to GTPase activity IDA
IDA: 通过直接分析推断
8247130 GOA
enables GTPase activity IMP
IMP: 通过突变表型推断
28972538 GOA
enables endoplasmic reticulum signal peptide binding IDA
IDA: 通过直接分析推断
9511762 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
24965446 GOA
enables ribonucleoprotein complex binding IDA
IDA: 通过直接分析推断
9511762 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in granulocyte differentiation IMP
IMP: 通过突变表型推断
28972538 GOA
involved in protein targeting to ER IMP
IMP: 通过突变表型推断
18089836 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
10618370 GOA
NOT located in nucleolus IDA
IDA: 通过直接分析推断
10618370 GOA
located in nucleus IDA
IDA: 通过直接分析推断
18089836 GOA
part of signal recognition particle, endoplasmic reticulum targeting IDA
IDA: 通过直接分析推断
18089836 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

SRP54 蛋白结构

SRP54_N

SRP54_N: SRP54-type protein, helical bundle domain (6 - 83)

SRP54

SRP54: SRP54-type protein, GTPase domain (101 - 296)

SRP_SPB

SRP_SPB: Signal peptide binding domain (326 - 431)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 504 a.a.
蛋白主名 其他名称

signal recognition particle 54 kDa protein

signal recognition particle 54kD

重组 SRP54 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74537 SRP54 Protein, Human (sf9, His) P61011 (M1-M504) ≥95%

关联疾病

疾病名称 别名
Neutropenia, Severe Congenital, 8, Autosomal Dominant

SCN8

Neutropenia, Severe Congenital, 8, Autosomal Dominant, With Or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities

Shwachman-Diamond Syndrome-Like

Sdsl

Neutropenia, Severe Congenital 8, Autosomal Dominant

Neutropenia, Severe Congenital, Type 8, Autosomal Dominant
Shwachman-Diamond Syndrome 1

Shwachman-Diamond Syndrome

Shwachman Syndrome

Shwachman-Bodian-Diamond Syndrome

Sds

Pancreatic Insufficiency And Bone Marrow Dysfunction

Shwachman-Bodian Syndrome

SDS1

Lipomatosis Of Pancreas, Congenital

Congenital Lipomatosis Of Pancreas

Shwachman-Diamond Type Metaphyseal Dysplasia

Metaphyseal Chondrodysplasia, Shwachman Type

Shwachman-Diamond-Oski Syndrome
Autosomal Dominant Severe Congenital Neutropenia

Severe Congenital Neutropenia Autosomal Dominant

Neutropenia, Congenital, Severe, Autosomal Dominant
Severe Congenital Neutropenia 8

Autosomal Dominant Severe Congenital Neutropenia 8 With Or Without Pancreatic Dysfunction And/Or Neurological Abnormalities

Scn8

Sdsl

Shwachman-Diamond Syndrome-Like
Severe Congenital Neutropenia

Congenital Neutropenia

Neutropenia, Severe Congenital

Congenital Agranulocytosis

Infantile Genetic Agranulocytosis

Kostmann Disease

Kostmann'S Agranulocytosis

Kostmann'S Syndrome

Severe Infantile Genetic Neutropenia
Neutropenia

Leukopenia
Severe Congenital Neutropenia 7

Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency

Scn7
Spondylometaphyseal Dysplasia, Corner Fracture Type

SMDCF

Spondylometaphyseal Dysplasia, Sutcliffe Type

Spondylometaphyseal Dysplasia Corner Fracture Type

Spondylometaphyseal Dysplasia, 'Corner Fracture' Type

Spondylometaphyseal Dysplasia Sutcliffe Type

Sutcliffe Type Of Spondylometaphyseal Dysplasia

Spondylometaphyseal Dysplasia - Sutcliffe Type

Smd, Corner Fractures Type

Smd, Sutcliffe Type

Sutcliffe Smd

Dysplasia, Spondylometaphyseal, Corner Fracture Type
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13773 SRP54 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris SRP54 VGNC VGNC:46807
Bos taurus SRP54 VGNC VGNC:35285
Macaca mulatta SRP54 VGNC VGNC:82247
Felis catus SRP54 VGNC VGNC:65683
Rattus norvegicus SRP54 RGD RGD:621390
Others SRP54 NCBI
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