LIPJ

Summary

LIPJ (lipase family member J, HGNC:21773) is a protein-coding gene on chromosome 10q23.31, encoding Lipase member J (Q5W064).

Predicted to enable hydrolase activity, acting on ester bonds. Predicted to be involved in lipid catabolic process. Predicted to be active in intracellular membrane-bounded organelle.

Source: NCBI Gene 142910 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 47 total
• MANE Select transcript: NM_001010939

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21773
Approved symbol	LIPJ
Name	lipase family member J
Location	10q23.31
Locus type	gene with protein product
Status	Approved
Aliases	bA425M17.2
Ensembl gene	ENSG00000204022
Ensembl biotype	protein_coding
OMIM	613921
Entrez	142910

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron

ENST00000371939, ENST00000526923, ENST00000531458

RefSeq mRNA: 2 — MANE Select: NM_001010939 NM_001010939, NM_001394640

CCDS: CCDS31240

Canonical transcript exons

ENST00000371939 — 11 exons

Exon	Start	End
ENSE00001456499	88605633	88605704
ENSE00001456502	88596790	88596936
ENSE00001456503	88596280	88596416
ENSE00001456505	88593946	88594144
ENSE00001456506	88591378	88591498
ENSE00001456507	88590585	88590696
ENSE00001456508	88587266	88587392
ENSE00001456509	88586762	88586845
ENSE00001857010	88606674	88606976
ENSE00002453040	88594667	88594776
ENSE00002459425	88602576	88602647

Expression profiles

Bgee: expression breadth ubiquitous, 143 present calls, max score 78.08.

Top tissues by expression

234 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.08	gold quality
right testis	UBERON:0004534	70.22	gold quality
left testis	UBERON:0004533	70.11	gold quality
testis	UBERON:0000473	68.47	gold quality
sperm	CL:0000019	66.63	gold quality
right uterine tube	UBERON:0001302	62.38	gold quality
endothelial cell	CL:0000115	61.42	gold quality
epithelium of nasopharynx	UBERON:0001951	61.03	gold quality
cortical plate	UBERON:0005343	56.82	gold quality
cerebellar cortex	UBERON:0002129	55.76	gold quality
cerebellar hemisphere	UBERON:0002245	55.73	gold quality
body of pancreas	UBERON:0001150	55.17	gold quality
right hemisphere of cerebellum	UBERON:0014890	55.04	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	54.76	gold quality
cerebellum	UBERON:0002037	54.39	gold quality
islet of Langerhans	UBERON:0000006	53.95	gold quality
mucosa of stomach	UBERON:0001199	53.95	gold quality
pancreas	UBERON:0001264	53.55	gold quality
fundus of stomach	UBERON:0001160	52.41	gold quality
left uterine tube	UBERON:0001303	52.40	gold quality
fallopian tube	UBERON:0003889	51.55	gold quality
body of stomach	UBERON:0001161	50.86	gold quality
body of uterus	UBERON:0009853	50.80	gold quality
smooth muscle tissue	UBERON:0001135	50.77	gold quality
right coronary artery	UBERON:0001625	49.98	gold quality
gastrocnemius	UBERON:0001388	49.88	gold quality
thyroid gland	UBERON:0002046	49.02	gold quality
stomach	UBERON:0000945	48.93	gold quality
left lobe of thyroid gland	UBERON:0001120	48.84	gold quality
skin of hip	UBERON:0001554	48.84	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.23

Regulation

Is transcription factor: no

Cross-species orthologs

28 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	Lip3	FBGN0023495
drosophila_melanogaster	Lip1	FBGN0023496
drosophila_melanogaster	Lip2	FBGN0024740
drosophila_melanogaster	CG2772	FBGN0031533
drosophila_melanogaster	Lip4	FBGN0032264
drosophila_melanogaster	CG18301	FBGN0032265
drosophila_melanogaster	CG18302	FBGN0032266
drosophila_melanogaster	CG7329	FBGN0032271
drosophila_melanogaster	CG3635	FBGN0032981
drosophila_melanogaster	CG8093	FBGN0033999
drosophila_melanogaster	CG11406	FBGN0034990
drosophila_melanogaster	mag	FBGN0036996
drosophila_melanogaster	CG11598	FBGN0038067
drosophila_melanogaster	CG11600	FBGN0038068
drosophila_melanogaster	CG11608	FBGN0038069
drosophila_melanogaster	CG6753	FBGN0038070
drosophila_melanogaster	CG18530	FBGN0042207
drosophila_melanogaster	CG18284	FBGN0043825
drosophila_melanogaster	CG31089	FBGN0051089
drosophila_melanogaster	CG31091	FBGN0051091
drosophila_melanogaster	CG31871	FBGN0051871
drosophila_melanogaster	CG31872	FBGN0051872
drosophila_melanogaster	CG17097	FBGN0265264
caenorhabditis_elegans		WBGENE00009773
caenorhabditis_elegans		WBGENE00010062
caenorhabditis_elegans		WBGENE00020016
caenorhabditis_elegans		WBGENE00021963
caenorhabditis_elegans		WBGENE00022642

Paralogs (5): LIPA (ENSG00000107798), LIPM (ENSG00000173239), LIPF (ENSG00000182333), LIPN (ENSG00000204020), LIPK (ENSG00000204021)

Protein

Protein identifiers

Lipase member J — Q5W064 (reviewed: Q5W064)

Alternative names: Lipase-like abhydrolase domain-containing protein 1

All UniProt accessions (2): Q5W064, H0YDS3

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the AB hydrolase superfamily. Lipase family.

RefSeq proteins (2): NP_001010939, NP_001381569 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006693	AB_hydrolase_lipase	Domain
IPR025483	Lipase_euk	Family
IPR029058	AB_hydrolase_fold	Homologous_superfamily

Pfam: PF04083

UniProt features (5 total): active site 3, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5W064-F1	92.56	0.78

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (3): 141 (nucleophile); 312 (charge relay system); 341 (charge relay system)

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6809371	Formation of the cornified envelope
R-HSA-1266738	Developmental Biology
R-HSA-6805567	Keratinization

MSigDB gene sets: 16 (showing top): GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_CATABOLIC_PROCESS, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOMF_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY, GOMF_LIPASE_ACTIVITY, chr10q23, REACTOME_KERATINIZATION, REACTOME_FORMATION_OF_THE_CORNIFIED_ENVELOPE, PAX3_TARGET_GENES, GSE15659_TREG_VS_TCONV_UP, DESCARTES_MAIN_FETAL_THYMIC_EPITHELIAL_CELLS, GSE21546_ELK1_KO_VS_SAP1A_KO_AND_ELK1_KO_DP_THYMOCYTES_UP, GSE21927_SPLEEN_VS_TUMOR_MONOCYTE_BALBC_UP, GSE21927_UNTREATED_VS_GMCSF_GCSF_TREATED_BONE_MARROW_UP, GSE16385_UNTREATED_VS_12H_ROSIGLITAZONE_TREATED_MACROPHAGE_UP

GO Biological Process (2): lipid metabolic process (GO:0006629), lipid catabolic process (GO:0016042)

GO Molecular Function (4): lipase activity (GO:0016298), carboxylic ester hydrolase activity (GO:0052689), hydrolase activity (GO:0016787), hydrolase activity, acting on ester bonds (GO:0016788)

GO Cellular Component (0):

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Keratinization	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
hydrolase activity, acting on ester bonds	2
primary metabolic process	1
lipid metabolic process	1
catabolic process	1
catalytic activity	1
hydrolase activity	1

Protein interactions and networks

STRING

962 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LIPJ	RNLS	Q5VYX0	473
LIPJ	TFEB	P19484	407
LIPJ	LIAS	O43766	407
LIPJ	LIPI	Q6XZB0	395
LIPJ	LIPC	P11150	383
LIPJ	MYBPH	Q13203	367
LIPJ	PAPSS2	O95340	360
LIPJ	ACSM6	Q6P461	357
LIPJ	ALDH18A1	P54886	331
LIPJ	DYDC1	Q8WWB3	327
LIPJ	AASDH	Q4L235	325
LIPJ	LIPG	Q9Y5X9	325
LIPJ	SH2D4B	Q5SQS7	324
LIPJ	SCGB1D2	O95969	311
LIPJ	ACSM4	P0C7M7	306

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A5D6U8, A6H730, J3SDX8, O16956, O35409, O61866, O75795, P04068, P04634, P07098, P07099, P07687, P08430, P0DTE5, P11515, P19224, P21529, P36510, P37891, P38571, P49614, P70627, P70691, P79381, P80035, Q28611, Q29458, Q38924, Q3U4B4, Q3YBN2, Q41005, Q4R4S5, Q5VXI9, Q5VXJ0, Q5VYY2, Q5W064, Q64194, Q64435, Q64550, Q67ZU1

Diamond homologs: J3SDX8, O16956, O46107, O46108, O61866, O74430, P04634, P07098, P34163, P38571, P78898, P80035, Q29458, Q3U4B4, Q3YBN2, Q4R4S5, Q5VXI9, Q5VXJ0, Q5VYY2, Q5W064, Q64194, Q67ZU1, Q8BM14, Q8K2A6, Q93789, Q94252, Q9CPP7, Q9Z0M5, Q07950, Q71DJ5, O60095, Q07804

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

47 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	38
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1825 predictions. Top by Δscore:

Variant	Effect	Δscore
10:88590697:G:GG	donor_gain	1.0000
10:88594737:G:GT	donor_gain	1.0000
10:88587388:GAGAG:G	donor_gain	0.9900
10:88591376:AGAGC:A	acceptor_gain	0.9900
10:88594738:A:T	donor_gain	0.9900
10:88602575:GA:G	acceptor_gain	0.9900
10:88605546:G:GT	donor_gain	0.9900
10:88605700:ATCAG:A	donor_loss	0.9900
10:88605701:TCAGG:T	donor_loss	0.9900
10:88605702:CAGG:C	donor_loss	0.9900
10:88605703:AG:A	donor_loss	0.9900
10:88605704:GG:G	donor_loss	0.9900
10:88605706:T:C	donor_loss	0.9900
10:88587389:AGAG:A	donor_loss	0.9800
10:88587390:GAG:G	donor_gain	0.9800
10:88587390:GAGG:G	donor_loss	0.9800
10:88587391:AGG:A	donor_loss	0.9800
10:88587392:GG:G	donor_loss	0.9800
10:88587393:G:GC	donor_loss	0.9800
10:88587394:T:A	donor_loss	0.9800
10:88588285:T:G	donor_gain	0.9800
10:88591375:TAGAG:T	acceptor_gain	0.9800
10:88602575:GAGTC:G	acceptor_gain	0.9800
10:88605631:A:AG	acceptor_gain	0.9800
10:88605632:G:GG	acceptor_gain	0.9800
10:88605632:GCTT:G	acceptor_gain	0.9800
10:88606672:A:AG	acceptor_gain	0.9800
10:88606673:G:GG	acceptor_gain	0.9800
10:88594158:G:GT	donor_gain	0.9700
10:88602567:A:AG	acceptor_gain	0.9700

AlphaMissense

2461 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:88594140:T:C	F109L	0.985
10:88594142:C:A	F109L	0.985
10:88594142:C:G	F109L	0.985
10:88594131:T:C	F106L	0.980
10:88594133:C:A	F106L	0.980
10:88594133:C:G	F106L	0.980
10:88594143:A:C	S110R	0.965
10:88594667:T:A	S110R	0.965
10:88594667:T:G	S110R	0.965
10:88594758:T:C	S141P	0.961
10:88594079:A:C	R88S	0.959
10:88594079:A:T	R88S	0.959
10:88594032:T:C	F73L	0.947
10:88594034:C:A	F73L	0.947
10:88594034:C:G	F73L	0.947
10:88602580:G:C	R243P	0.943
10:88594085:T:A	N90K	0.938
10:88594085:T:G	N90K	0.938
10:88594078:G:C	R88T	0.935
10:88594023:A:C	S70R	0.934
10:88594025:T:A	S70R	0.934
10:88594025:T:G	S70R	0.934
10:88602619:C:T	S256F	0.933
10:88594062:T:A	W83R	0.931
10:88594062:T:C	W83R	0.931
10:88593999:T:A	W62R	0.929
10:88593999:T:C	W62R	0.929
10:88602639:T:A	W263R	0.927
10:88602639:T:C	W263R	0.927
10:88596372:A:C	S178R	0.924

dbSNP variants (sampled 300 via entrez): RS1000137901 (10:88591698 A>G), RS1000142293 (10:88597835 G>A), RS1000276828 (10:88597619 T>C), RS1000382836 (10:88606132 A>G), RS1000394642 (10:88582929 G>A,C,T), RS1000419667 (10:88590172 C>A,T), RS1000544476 (10:88604030 C>T), RS1000592811 (10:88583106 A>G), RS1000601977 (10:88613528 G>A), RS1000740636 (10:88617094 A>G), RS1000829948 (10:88609749 A>C), RS1001112239 (10:88610211 A>T), RS1001149549 (10:88602378 A>G), RS1001311329 (10:88617879 C>T), RS1001338363 (10:88617294 C>A)

Disease associations

OMIM: gene MIM:613921 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): end stage renal failure (MONDO:0004375)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST007495_2	Estimated glomerular filtration rate in coronary artery disease and impaired kidney function	6.000000e-08
GCST012171_3	Aortic vascular smooth muscle cell calcification in response to osteogenic stimuli	4.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
abrine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Lipopolysaccharides	affects cotreatment, affects response to substance, increases expression	1
Valproic Acid	decreases methylation	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00035178	PHASE4	COMPLETED	Pharmacokinetics/Pharmacodynamics of Argatroban Injection in End-Stage Renal Disease Patients Undergoing Hemodialysis
NCT00053547	PHASE4	COMPLETED	Safety and Effectiveness of Zemplar Injection in Decreasing iPTH Levels in Pediatric ESRD Subjects on Hemodialysis
NCT00062699	PHASE4	TERMINATED	Evaluate the Survival Benefits of Zemplar Versus Calcijex in Subjects w/ Stage V Chronic Kidney Disease on Hemodialysis
NCT00110890	PHASE4	COMPLETED	A Research Study for Patients With End-Stage Renal Disease (ESRD)
NCT00115115	PHASE4	COMPLETED	Donor Dopamine and Initial Graft Function
NCT00117104	PHASE4	COMPLETED	Evaluating Aranesp® in Subjects With End Stage Renal Disease onChronic Hemodialysis
NCT00125775	PHASE4	COMPLETED	Does Extra-High Dose Hepatitis B Vaccination Confer Longer Serological Protection in Peritoneal Dialysis Patients?
NCT00155363	PHASE4	UNKNOWN	Effect of Different Hemodialysis Modality on Adiponectin,Vascular Function and Clinical Prognosis
NCT00172809	PHASE4	COMPLETED	Interferon Treatment for Patients With Chronic Hepatitis C and End Stage Renal Disease
NCT00182559	PHASE4	COMPLETED	The Vienna Prograf and Endothelial Progenitor Cell Study
NCT00247507	PHASE4	UNKNOWN	The Effects of Acetylcysteine on Alleviating Damage of Oxidative Stress in Hemodialysis Patients
NCT00257920	PHASE4	COMPLETED	A Study of Zemplar® Injection and Hectorol® Injection on Intestinal Absorption of Calcium in Chronic Kidney Disease
NCT00261625	PHASE4	COMPLETED	Can Alendronate Suppress Calcification and Improve Bone Density in Chronic Peritoneal Dialysis Patients?
NCT00294502	PHASE4	COMPLETED	Antibiotic Lock Solutions in the Prevention of Catheter Related Bacteremia
NCT00295191	PHASE4	COMPLETED	Multiple Interventions Related to Dialysis Procedures in Order to Reduce Cardiovascular Morbidity and Mortality in HD Patients(EGESTUDY)
NCT00307463	PHASE4	COMPLETED	Effects of Strict Volume Control in Hypertensive Hemodialysis Patients on Cardiac Structure and Chronic Inflammation
NCT00328809	PHASE4	WITHDRAWN	Spironolactone Safety in Dialysis Patients
NCT00369538	PHASE4	SUSPENDED	Specific Blockage of Angiotensine 2 and Podocyturia in Glomerular Nephropathies With Hypertension and Proteinuria
NCT00374803	PHASE4	COMPLETED	Study of Myfortic in Combination With Tacrolimus and Thymoglobulin in Early Corticosteroid Withdrawal
NCT00379899	PHASE4	COMPLETED	ADVANCE: Study to Evaluate Cinacalcet Plus Low Dose Vitamin D on Vascular Calcification in Subjects With Chronic Kidney Disease Receiving Hemodialysis
NCT00400595	PHASE4	COMPLETED	Use of Ointments in Prevention of Catheter Related Infections in PD
NCT00411177	PHASE4	COMPLETED	Comparison of Post-dilution On-line Hemodiafiltration and Hemodialysis
NCT00413803	PHASE4	COMPLETED	Comparison of Four and Eight Hours Dialysis Sessions in Thrice Weekly Hemodialysis
NCT00510549	PHASE4	COMPLETED	Comparison of the Impact of Dialysis Treatment Type on Patient Survival
NCT00532597	PHASE4	UNKNOWN	Effects of On-Line Hemodiafiltration(HDF) on Vascular Health in Chronic Hemodialysis Patients
NCT00556933	PHASE4	COMPLETED	Improved Induction and Maintenance Immunosuppression in Kidney Transplantation
NCT00567489	PHASE4	COMPLETED	IMPENDIA- PEN VS Dianeal Only Improved Metabolic Control In Diabetic CAPD and APD Patients
NCT00586131	PHASE4	COMPLETED	Arterial pH and Total Body Nitrogen Balances in APD
NCT00644046	PHASE4	COMPLETED	Chronic Kidney Disease Prevention of An-Lo District, Keelung
NCT00649298	PHASE4	COMPLETED	A Clinical Trial of IntensiVE Dialysis
NCT00656695	PHASE4	COMPLETED	Comparisone of Iminoral Versus Neoral in Prevention of Acute Rejection in Renal Transplantation
NCT00745225	PHASE4	COMPLETED	Peroxisome Proliferator-Activated Receptor-Gamma Activation in Peritoneal Dialysis Patients
NCT00784979	PHASE4	COMPLETED	Panel Reactive Antibody (PRA) Reduction in Sensitized Patients Awaiting Renal Transplantation
NCT00798993	PHASE4	COMPLETED	Effect of 25-hydroxyvitamin D and a Structured Exercise Program on Dialysis Patients
NCT00807144	PHASE4	COMPLETED	Standard Versus Prolonged-release Tacrolimus Monotherapy After Alemtuzumab Induction in Kidney Transplantation
NCT00912821	PHASE4	COMPLETED	Effect of Different Dialysis Dosage on Prognosis in Maintenance Peritoneal Dialysis Patients
NCT00936663	PHASE4	TERMINATED	Using Sitagliptin as a Treatment to Prevent New Onset Diabetes After Kidney Transplantation
NCT00939952	PHASE4	COMPLETED	Ertapenem Pharmacokinetics in Patients in Continuous Ambulatory Peritoneal Dialysis
NCT00966615	PHASE4	COMPLETED	The Effect of Neutral Peritoneal Dialysis (PD) Solution With Minimal Glucose-Degradation-Product (GDP) on Fluid Status and Body Composition
NCT01046955	PHASE4	COMPLETED	Thymoglobulin Versus Alemtuzumab Versus Daclizumab in Living Donor Renal Transplantation