LIPI - lipase I Gene

Also Known as CT17; LPDL; PLA1C; PRED5; mPA-PLA1 beta

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 149998

About LIPI

Cytogenetic location: 21q11.2 Genomic coordinates (GRCh38): 21:14,108,812-14,210,955 (from NCBI)

This gene has 8 transcripts (splice variants), 286 orthologues, 9 paralogues and is associated with 2 phenotypes. Biased expression in thyroid (RPKM 1.4), endometrium (RPKM 0.3) and 2 other tissues.

Summary

The protein encoded by this gene is a Phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. This gene is also expressed at high levels in Ewing family tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

LIPI Products (7)

mRNA Protein Name
NM_001302998.2 NP_001289927.1 lipase member I isoform 1 precursor
NM_001302999.2 NP_001289928.1 lipase member I isoform 2
NM_001303000.2 NP_001289929.1 lipase member I isoform 3 precursor
NM_001303001.2 NP_001289930.1 lipase member I isoform 4
NM_001379565.1 NP_001366494.1 lipase member I isoform 6
NM_001379566.1 NP_001366495.1 lipase member I isoform 7 precursor
NM_198996.4 NP_945347.3 lipase member I isoform 5
Molecular Function GO Annotation Evidence Verweise Source
enables heparin binding IDA
IDA: Inferred from direct assay
12963729 GOA
enables phospholipase activity IDA
IDA: Inferred from direct assay
12963729 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in lipid catabolic process IDA
IDA: Inferred from direct assay
12963729 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in extracellular space IDA
IDA: Inferred from direct assay
12963729 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
12963729 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

LIPI Protein Structure

Lipase

Lipase: Lipase (61 - 334)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 481 a.a.
Protein Preferred Names Protein Names

lipase member I

  • LPD lipase

Related Diseases

Diseases Alias
Hypertriglyceridemia 1
  • Hypertriglyceridemia

  • Hypertriglyceridemia, Familial

  • Hypertriglyceridemia, Susceptibility To

  • HYTG1

  • FHTR

  • Hypertriglyceridemias Familial

Posterior Cerebral Artery Infarction
  • Infarction, Posterior Cerebral Artery

Diffuse Pulmonary Fibrosis
Developmental And Epileptic Encephalopathy 53
  • DEE53

  • Epileptic Encephalopathy, Early Infantile, 53

  • Eiee53

  • Developmental And Epileptic Encephalopathy, 53

  • Early Infantile Epileptic Encephalopathy 53

Ciliary Dyskinesia, Primary, 26
  • Primary Ciliary Dyskinesia 26

  • CILD26

  • Primary Ciliary Dyskinesia 26 With Or Without Situs Inversus

  • Ciliary Dyskinesia, Primary, 26, With Or Without Situs Inversus

  • Dyskinesia, Ciliary, Primary, 26

Ewing Sarcoma Of Bone
  • Ewing'S Sarcoma Of Bone

  • Bone Ewing Sarcoma

  • Bone Ewing'S Sarcoma

  • Bone Localized Ewing Sarcoma

  • Bone Localized Ewing'S Sarcoma

  • Ewing'S Sarcoma/Bone Peripheral Primitive Neuroectodermal Tumor

  • Localized Skeletal Ewing'S Sarcoma

  • Localized Bone Ewing Sarcoma

Intellectual Developmental Disorder, Autosomal Dominant 7
  • MRD7

  • Mental Retardation, Autosomal Dominant 7

  • Autosomal Dominant Non-Syndromic Intellectual Disability 7

  • Dyrk1a Syndrome

  • Autosomal Dominant Intellectual Developmental Disorder 7

  • Autosomal Dominant Mental Retardation 7

  • Mental Retardation, Autosomal Dominant, Type 7

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
Canis familiaris LIPI VGNC VGNC:42698
Rattus norvegicus LIPI RGD RGD:1310162
Felis catus LIPI VGNC VGNC:63240
Mus musculus LIPI MGD MGI:2443868
Others LIPI NCBI