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PLEKHN1 - pleckstrin homology domain containing N1 Gene

Also Known as CLPABP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84069

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10699	PLEKHN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29452	Plekhn1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	PLEKHN1	NCBI