LIPI - lipase I Gene

Homo sapiens

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

Gene ID: 149998 | Gene type: protein coding

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

LIPI Protein Structure

Lipase

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07691	LIPI Human Pre-designed siRNA Set A		/	Unkown

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