2. Gene
  3. PLAA - phospholipase A2 activating protein Gene

PLAA - phospholipase A2 activating protein Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as DOA1; PLAP; PLA2P; NDMSBA

Gene ID: 9373 | Gene type: protein coding

About PLAA

Cytogenetic location: 9p21.2 Genomic coordinates (GRCh38): 9:26,903,372-26,947,242 (from NCBI)

This gene has 7 transcripts (splice variants), 209 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 6.9), bone marrow (RPKM 5.3) and 25 other tissues.

Summary

Predicted to enable ubiquitin binding activity. Involved in cellular response to lipopolysaccharide; macroautophagy; and positive regulation of Phospholipase A2 activity. Located in cytoplasm; extracellular exosome; and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

PLAA Products(2)

mRNA Protein Name
NM_001031689.3 NP_001026859.1 phospholipase A-2-activating protein isoform 1
NM_001321546.2 NP_001308475.1 phospholipase A-2-activating protein isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
18775313 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cellular response to lipopolysaccharide IMP
IMP: Inferred from mutant phenotype
28007986 GOA
involved in macroautophagy IMP
IMP: Inferred from mutant phenotype
27753622 GOA
involved in positive regulation of phospholipase A2 activity IMP
IMP: Inferred from mutant phenotype
28007986 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
27753622 GOA
located in extracellular exosome IDA
IDA: Inferred from direct assay
17076679 GOA
located in nucleus IDA
IDA: Inferred from direct assay
28007986 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

PLAA Protein Structure

WD40

WD40: WD domain, G-beta repeat (13 - 46)

WD40

WD40: WD domain, G-beta repeat (61 - 98)

WD40

WD40: WD domain, G-beta repeat (104 - 138)

WD40

WD40: WD domain, G-beta repeat (142 - 179)

WD40

WD40: WD domain, G-beta repeat (181 - 217)

WD40

WD40: WD domain, G-beta repeat (221 - 259)

PFU

PFU: PFU (PLAA family ubiquitin binding) (345 - 459)

PUL

PUL: PUL domain (534 - 789)

  • 0
  • 200
  • 400
  • 600
  • 795 a.a.
Protein Preferred Names Protein Names

phospholipase A-2-activating protein

DOA1 homolog

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies

NDMSBA

Plaa-Associated Neurodevelopmental Disorder

Plaand
Split-Hand/Foot Malformation 1

Ectrodactyly

Split Hand-Foot Malformation 1

SHFM1

Shfd1

Split-Hand Deformity

Split-Hand/Foot Malformation 1 With Or Without Deafness

Split-Hand/Foot Deformity 1

Ecd

Split Hand/Foot Malformation Type 1

Split Hand Foot Deformity 1

Split-Hand/Foot Malformation
Lymphoproliferative Syndrome

Lymphoproliferative Disorder

Lymphoproliferative Disorders

Lymphoproliferative Disorders, Susceptibility To
Combined T And B Cell Immunodeficiency
Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Conjugate Gaze Palsy

Palsy Of Conjugate Gaze

Supranuclear Ocular Palsy

Gaze Palsy
Peho Syndrome

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy

Infantile Cerebellooptic Atrophy

PEHO

Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy

Progressive Encephalopathy-Optic Atrophy Syndrome
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

Pagetoid Amyotrophic Lateral Sclerosis

Pagetoid Neuroskeletal Syndrome

Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

Multisystem Proteinopathy

Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

Lower Motor Neuron Degeneration With Paget-Like Bone Disease

Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia
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-RS10636 PLAA Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris PLAA VGNC VGNC:44634
Bos taurus PLAA VGNC VGNC:32967
Rattus norvegicus PLAA RGD RGD:621245
Mus musculus PLAA MGD MGI:104810
Felis catus PLAA VGNC VGNC:68886