2. Gene
  3. PLEKHN1 - pleckstrin homology domain containing N1 Gene

PLEKHN1 - pleckstrin homology domain containing N1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Protein Preferred Names Protein Names

pleckstrin homology domain-containing family N member 1

PH domain-containing family N member 1

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