2. Gene
  3. LNPK - lunapark, ER junction formation factor Gene

LNPK - lunapark, ER junction formation factor Gene

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

中文名称：lunapark，内质网连接形成因子

种属: Homo sapiens

同用名: Ul; LNP; LNP1; NEDEHCC; KIAA1715; ulnaless

基因 ID: 80856 | 基因类型: protein coding

关于 LNPK

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:175,923,882-176,002,820 (from NCBI)

This gene has 12 transcripts (splice variants), 273 orthologues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 7.2), colon (RPKM 5.9) and 24 other tissues.

功能概要

实现相同的蛋白质结合活性。参与内质网管状网络维护和内质网管状网络组织的正向调控。位于内质网管状网络膜和核质中。是内质网膜的组成部分。 [由基因组资源联盟提供，2022 年 4 月]

Enables identical protein binding activity. Involved in endoplasmic reticulum tubular network maintenance and positive regulation of endoplasmic reticulum tubular network organization. Located in endoplasmic reticulum tubular network membrane and nucleoplasm. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

LNPK 基因产物(5)

mRNA Protein Name
NM_001305008.1 NP_001291937.1 endoplasmic reticulum junction formation protein lunapark isoform 1 precursor
NM_001305009.1 NP_001291938.1 endoplasmic reticulum junction formation protein lunapark isoform 2
NM_001305010.1 NP_001291939.1 endoplasmic reticulum junction formation protein lunapark isoform 3 precursor
NM_001305011.2 NP_001291940.1 endoplasmic reticulum junction formation protein lunapark isoform 5
NM_030650.3 NP_085153.1 endoplasmic reticulum junction formation protein lunapark isoform 4
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 identical protein binding IDA
IDA: 通过直接分析推断
27619977 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in endoplasmic reticulum organization IMP
IMP: 通过突变表型推断
30032983 GOA
involved in endoplasmic reticulum tubular network maintenance IMP
IMP: 通过突变表型推断
25548161 GOA
involved in positive regulation of endoplasmic reticulum tubular network organization IMP
IMP: 通过突变表型推断
24223779 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
24223779 GOA
located in endoplasmic reticulum tubular network membrane IDA
IDA: 通过直接分析推断
24223779 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

LNPK 蛋白结构

zinc_ribbon_10

zinc_ribbon_10: Predicted integral membrane zinc-ribbon metal-binding protein (256 - 305)

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

endoplasmic reticulum junction formation protein lunapark

2310011O18Rik

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum

NEDEHCC
Robinow Syndrome, Autosomal Recessive 1

Robinow Syndrome, Autosomal Recessive

Autosomal Recessive Robinow Syndrome

Covesdem Syndrome

RRS1

Costovertebral Segmentation Defect-Mesomelia Syndrome

Rrs

Costovertebral Segmentation Defect With Mesomelia, Formerly

Covesdem Syndrome, Formerly

Costovertebral Segmentation Defect With Mesomelia

Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly

Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly

Robinow, Autosomal Recessive Syndrome, Type 1
Spastic Paraplegia, Optic Atrophy, And Neuropathy

Spoan Syndrome

SPOAN

Spastic Paraplegia, Optic Atropy, And Neuropathy

Spastic Paraplegia, Optic Atropy, And Neuropathy Syndrome

Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Synpolydactyly

Syndactyly Type 2

Syndactyly, Type 2

Spd
Diabetes Insipidus, Neurohypophyseal

Neurohypophyseal Diabetes Insipidus

Cdi

Pituitary Diabetes Insipidus

Vasopressin Defective Diabetes Insipidus

Vasopressin Deficiency

Central Diabetes Insipidus

Diabetes Insipidus, Neurogenic

Diabetes Insipidus, Primary Central

Diabetes Insipidus, Cranial Type

Diabetes Insipidus Secondary To Vasopressin Deficiency

Diabetes Insipidus, Central

Diabetes Insipidus, Pituitary

NDI

Diabetes Insipidus Cranial Type

Neurogenic Diabetes Insipidus

Primary Central Diabetes Insipidus
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-RS07731 LNPK Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus LNPK VGNC VGNC:80265
Bos taurus LNPK VGNC VGNC:30945
Macaca mulatta LNPK VGNC VGNC:74329
Rattus norvegicus LNPK RGD RGD:1312042
Canis familiaris LNPK VGNC VGNC:42731
Mus musculus LNPK MGD MGI:1918115
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