PLEKHN1 - pleckstrin homology domain containing N1 Gene

Homo sapiens

Also known as CLPABP

Gene ID: 84069 | Gene type: protein coding

About PLEKHN1

This gene has 5 transcripts (splice variants), 126 orthologues and 22 paralogues. Biased expression in skin (RPKM 9.8), esophagus (RPKM 3.7) and 3 other tissues.

Summary

Enables phospholipid binding activity. Involved in 3'-UTR-mediated mRNA destabilization; positive regulation of apoptotic process; and response to hypoxia. Located in Cytoskeleton and mitochondrial membrane. [provided by Alliance of Genome Resources, Apr 2022]

PLEKHN1 Products(4)

mRNA	Protein	Name
NM_001160184.2	NP_001153656.1	pleckstrin homology domain-containing family N member 1 isoform b
NM_001367552.1	NP_001354481.1	pleckstrin homology domain-containing family N member 1 isoform c
NM_001410697.1	NP_001397626.1	pleckstrin homology domain-containing family N member 1 isoform d
NM_032129.3	NP_115505.2	pleckstrin homology domain-containing family N member 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cardiolipin binding	IDA IDA: Inferred from direct assay	18191643	GOA
enables phosphatidic acid binding	IDA IDA: Inferred from direct assay	18191643	GOA
enables phosphatidylinositol phosphate binding	IDA IDA: Inferred from direct assay	18191643	GOA
enables phosphatidylserine binding	IDA IDA: Inferred from direct assay	18191643	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18191643	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in 3'-UTR-mediated mRNA destabilization	IDA IDA: Inferred from direct assay	29180010	GOA
involved in positive regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	29531808	GOA
involved in response to hypoxia	IDA IDA: Inferred from direct assay	29531808	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoskeleton	IDA IDA: Inferred from direct assay	18191643	GOA
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	18191643	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	27616329	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

Protein Preferred Names

Protein Names

pleckstrin homology domain-containing family N member 1

PH domain-containing family N member 1

PLEKHN1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PLEKHN1	Q494U1	TP53BP2	Homo sapiens	Q13625-3	Y2H Prey Pooling	25416956
Intra	PLEKHN1	Q494U1	REL	Homo sapiens	Q04864	Validated Y2H	25416956
Intra	PLEKHN1	Q494U1	REL	Homo sapiens	Q04864	Y2H Prey Pooling	25416956
Intra	PLEKHN1	Q494U1	TRAF1	Homo sapiens	Q13077	Validated Y2H	25416956
Intra	PLEKHN1	Q494U1	TAX1BP1	Homo sapiens	Q86VP1	Validated Y2H	25416956
Intra	PLEKHN1	Q494U1	TAX1BP1	Homo sapiens	Q86VP1	Y2H Array	25416956
Intra	PLEKHN1	Q494U1	TCF4	Homo sapiens	P15884	Y2H Prey Pooling	25416956
Intra	PLEKHN1	Q494U1	TRIM27	Homo sapiens	P14373	Y2H Array	25416956
Intra	PLEKHN1	Q494U1	CBY2	Homo sapiens	Q8NA61	Validated Y2H	25416956
Intra	PLEKHN1	Q494U1	CBY2	Homo sapiens	Q8NA61	Y2H Array	25416956
Intra	PLEKHN1	Q494U1	LPXN	Homo sapiens	O60711	Validated Y2H	25416956
Intra	PLEKHN1	Q494U1	RFX6	Homo sapiens	Q8HWS3	Y2H Prey Pooling	25416956
Intra	PLEKHN1	Q494U1	RFX6	Homo sapiens	Q8HWS3	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Myasthenic Syndrome, Congenital, 8

Congenital Myasthenic Syndrome 8	CMS8
Myasthenic Syndrome, Congenital, With Pre- And Postsynaptic Defects	Cmsppd
Myasthenic Syndrome, Congenital, 8, With Pre- And Postsynaptic Defects	Congenital Myasthenic Syndrome Due To Agrin Deficiency
Myasthenic Syndrome, Congenital, Due To Agrin Deficiency	Congenital Myasthenic Syndrome 8 With Pre- And Postsynaptic Defects
Myasthenic Syndrome, Congenital, Type 8, With Pre- And Postsynaptic Defects

Neuropathy, Hereditary Sensory And Autonomic, Type Vii

Hereditary Sensory And Autonomic Neuropathy Type 7	HSAN7
Hereditary Sensory And Autonomic Neuropathy Type Vii	Hsan Vii
Cip With Hyperhidrosis And Gastrointestinal Dysfunction	Congenital Insensitivity To Pain With Hyperhidrosis And Gastrointestinal Dysfunction
Hsan With Hyperhidrosis And Gastrointestinal Dysfunction	Hereditary Sensory And Autonomic Neuropathy With Hyperhidrosis And Gastrointestinal Dysfunction
Insensitivity To Pain, Congenital, With Gastrointestinal Dysfunction And Hyperhidrosis	Neuropathy, Hereditary Sensory And Autonomic, 7
Congenital Insensitivity To Pain With Gastrointestinal Dysfunction And Hyperhidrosis	Neuropathy, Sensory And Autonomic, Hereditary, Type Vii

Neuropathy, Hereditary Sensory And Autonomic, Type Viii

HSAN8	Hsan Viii
Hereditary Sensory And Autonomic Neuropathy Type 8	Hereditary Sensory And Autonomic Neuropathy Type Viii
Neuropathy, Hereditary Sensory And Autonomic, 8	Neuropathy, Sensory And Autonomic, Hereditary, Type Viii

Neuropathy, Hereditary Sensory And Autonomic, Type V

HSAN5	Hereditary Sensory And Autonomic Neuropathy Type V
Hsan V	Hereditary Sensory And Autonomic Neuropathy Type 5
Congenital Insensitivity To Pain	Congenital Sensory Neuropathy With Selective Loss Of Small Myelinated Fibers
Hsan Type V	Insensitivity To Pain, Congenital
Hereditary Sensory And Autonomic Neuropathy, Type 5	Congenital Insensitivity To Pain And Thermal Analgesia
Neuropathy, Hereditary Sensory And Autonomic, 5	Hereditary Sensory Neuropathy Type V
Hsn V	Pain Insensitivity, Congenital
Neuropathy, Sensory And Autonomic, Hereditary, Type V	Hereditary Sensory Autonomic Neuropathy, Type 5
Hsan5 - [Hereditary Sensory And Autonomic Neuropathy Type 5]

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10699	PLEKHN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PLEKHN1	VGNC	VGNC:76108
Felis catus	PLEKHN1	VGNC	VGNC:64238
Bos taurus	PLEKHN1	VGNC	VGNC:33025
Mus musculus	PLEKHN1	MGD	MGI:2387630
Rattus norvegicus	PLEKHN1	RGD	RGD:1311019
Canis familiaris	PLEKHN1	VGNC	VGNC:44686

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