LNPK - lunapark, ER junction formation factor Gene

Also Known as Ul; LNP; LNP1; NEDEHCC; KIAA1715; ulnaless

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 80856

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables identical protein binding IDA
IDA: Inferred from direct assay
27619977 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in endoplasmic reticulum organization IMP
IMP: Inferred from mutant phenotype
30032983 GOA
involved in endoplasmic reticulum tubular network maintenance IMP
IMP: Inferred from mutant phenotype
25548161 GOA
involved in positive regulation of endoplasmic reticulum tubular network organization IMP
IMP: Inferred from mutant phenotype
24223779 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
24223779 GOA
located in endoplasmic reticulum tubular network membrane IDA
IDA: Inferred from direct assay
24223779 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

LNPK Protein Structure

zinc_ribbon_10

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 428 a.a.
Protein Preferred Names Protein Names

endoplasmic reticulum junction formation protein lunapark

  • 2310011O18Rik

LNPK 抗体

製品番号 製品名 アプリケーション 反応性
HY-P86946 LNP Antibody (YA6639) WB, IHC-P Human, Mouse, Rat

関連疾患

Diseases Alias
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
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS07731 LNPK Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others LNPK NCBI