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
Molecular Function GO Annotation Evidence Verweise 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 Verweise 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 Verweise 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 Verweise
Intra
PLEKHN1 Q494U1 TP53BP2 Homo sapiens Q13625-3 25416956
Intra
PLEKHN1 Q494U1 REL Homo sapiens Q04864 25416956
Intra
PLEKHN1 Q494U1 REL Homo sapiens Q04864 25416956
Intra
PLEKHN1 Q494U1 TRAF1 Homo sapiens Q13077 25416956
Intra
PLEKHN1 Q494U1 TAX1BP1 Homo sapiens Q86VP1 25416956
Intra
PLEKHN1 Q494U1 TAX1BP1 Homo sapiens Q86VP1 25416956
Intra
PLEKHN1 Q494U1 TCF4 Homo sapiens P15884 25416956
Intra
PLEKHN1 Q494U1 TRIM27 Homo sapiens P14373 25416956
Intra
PLEKHN1 Q494U1 CBY2 Homo sapiens Q8NA61 25416956
Intra
PLEKHN1 Q494U1 CBY2 Homo sapiens Q8NA61 25416956
Intra
PLEKHN1 Q494U1 LPXN Homo sapiens O60711 25416956
Intra
PLEKHN1 Q494U1 RFX6 Homo sapiens Q8HWS3 25416956
Intra
PLEKHN1 Q494U1 RFX6 Homo sapiens Q8HWS3 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

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