LNPK - lunapark, ER junction formation factor Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene 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	References	Source
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	References	Source
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	References	Source
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

0
100
200
300
400
428 a.a.

Protein Preferred Names	Protein Names
endoplasmic reticulum junction formation protein lunapark	2310011O18Rik

LNPK Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86946	LNP Antibody (YA6639)	WB, IHC-P	Human, Mouse, Rat

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

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