1. Gene
  2. PLAAT1 - phospholipase A and acyltransferase 1 Gene

PLAAT1 - phospholipase A and acyltransferase 1 Gene

Homo sapiens

Also known as A-C1; HRSL1; HSD28; HRASLS; HRASLS1; PLA/AT1; PLAAT-1; H-REV107

Gene ID: 57110 | Gene type: protein coding

About PLAAT1

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:193,240,606-193,281,426 (from NCBI)

This gene has 3 transcripts (splice variants), 273 orthologues and 7 paralogues. Biased expression in testis (RPKM 17.3), thyroid (RPKM 1.8) and 3 other tissues.

Summary

Enables Acyltransferase activity, transferring groups other than amino-acyl groups and Phospholipase activity. Involved in N-acylphosphatidylethanolamine metabolic process and phosphatidylcholine metabolic process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

PLAAT1 Products(2)

mRNA Protein Name
NM_001366112.1 NP_001353041.1 phospholipase A and acyltransferase 1
NM_020386.5 NP_065119.3 phospholipase A and acyltransferase 1

PLAAT1 Protein Structure

LRAT

LRAT: Lecithin retinol acyltransferase (15 - 131)

  • 0
  • 100
  • 168 a.a.
Protein Preferred Names Protein Names

phospholipase A and acyltransferase 1

H-REV107 protein-related protein

Related Diseases

Diseases Alias
Bothnia Retinal Dystrophy

Vasterbotten Dystrophy

BRD

Dystrophy, Retinal, Bothnia

Poland Syndrome

Poland Anomaly

Poland Sequence

Poland Syndactyly

Poland'S Syndrome

Poland'S Anomaly

Poland'S Syndactyly

Acro-Pectoro-Renal Field Defect

Brachydactyly, Absent Pectoral Muscles And Agenesis/Hypoplasia Of Kidneys

Unilateral Defect Of Pectoralis Muscle And Syndactyly Of The Hand

Unilateral Defect Of Pectoralis Major And Syndactyly Of The Hand

Microphthalmia, Syndromic 9

Matthew-Wood Syndrome

Spear Syndrome

Anophthalmia/Microphthalmia And Pulmonary Hypoplasia

Microphthalmia, Isolated, With Coloboma 8

MCOPS9

Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm

Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect

Pdac

Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect

Pmd

Syndromic Microphthalmia 9

Anophthalmia-Pulmonary Hypoplasia Syndrome

Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations

Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect

Microphthalmia Syndromic 9

Matthew Wood Syndrome

Pdac Syndrome

Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome

Microphthalmia, Isolated, With Coloboma, 8

MCOPCB8

Isolated Colobomatous Microphthalmia 8

Microphthalmia, Syndromic, 9

Anophthalmia With Pulmonary Hypoplasia

Microphthalmia Syndromic, Type 9

Anophthalmia And Pulmonary Hypoplasia

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
Felis catus PLAAT1 VGNC VGNC:102805
Bos taurus PLAAT1 VGNC VGNC:53580
Macaca mulatta PLAAT1 VGNC VGNC:76029
Canis familiaris PLAAT1 VGNC VGNC:41782
Rattus norvegicus PLAAT1 RGD RGD:1309485
Mus musculus PLAAT1 MGD MGI:1351473