LNPK - lunapark, ER junction formation factor Gene

Homo sapiens

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

Gene ID: 80856 | Gene type: protein coding

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

LNPK Protein Structure

zinc_ribbon_10

0
100
200
300
400
428 a.a.

Protein Preferred Names

Protein Names

endoplasmic reticulum junction formation protein lunapark

2310011O18Rik

Related Diseases

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07731	LNPK Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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