PRKCSH

Summary

PRKCSH (PRKCSH beta subunit of glucosidase II, HGNC:9411) is a protein-coding gene on chromosome 19p13.2, encoding Glucosidase 2 subunit beta (P14314). Regulatory subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins. It is haploinsufficient (ClinGen: sufficient evidence).

This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 5589 — RefSeq curated summary.

At a glance

• Gene–disease (curated): polycystic liver disease 1 (Definitive, ClinGen)
• GWAS associations: 4
• Clinical variants (ClinVar): 528 total — 24 pathogenic, 19 likely-pathogenic (top 6% of genes corpus-wide)
• GTEx eGene: eQTL in 32 tissues, sQTL in 42 (q < 0.05)
• Phenotypes (HPO): 26
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.70 (unconstrained)
• MANE Select transcript: NM_001289104

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9411
Approved symbol	PRKCSH
Name	PRKCSH beta subunit of glucosidase II
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Aliases	VASAP-60, GIIB, PKCSH, 80K-H, AGE-R2, GIIbeta, GluIIbeta
Ensembl gene	ENSG00000130175
Ensembl biotype	protein_coding
OMIM	177060
Entrez	5589

Gene structure

Transcript identifiers

Ensembl transcripts: 53 — 38 protein_coding, 7 retained_intron, 5 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined

MANE Select: ENST00000677123

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 6, TSL 3: 2, TSL 4: 4, TSL 5: 5

ENST00000677123, ENST00000585325, ENST00000585540, ENST00000586486, ENST00000587290, ENST00000587327, ENST00000587509, ENST00000588269, ENST00000589126, ENST00000589838, ENST00000589990, ENST00000590098, ENST00000591462, ENST00000591510, ENST00000591946, ENST00000592435, ENST00000592445, ENST00000592741, ENST00000593053, ENST00000593101, ENST00000593104, ENST00000676823, ENST00000852989, ENST00000852990, ENST00000852991, ENST00000852992, ENST00000852993, ENST00000852994, ENST00000852995, ENST00000852996, ENST00000852997, ENST00000852998, ENST00000852999, ENST00000853000, ENST00000853001, ENST00000853002, ENST00000853003, ENST00000853004, ENST00000853005, ENST00000853006, ENST00000853007, ENST00000853008, ENST00000853009, ENST00000916401, ENST00000951514, ENST00000951515, ENST00000951516, ENST00000951517, ENST00001066575, ENST00001066576, ENST00001118627, ENST00001118628, ENST00001123905

RefSeq mRNA: 7 — MANE Select: NM_001289104 NM_001001329, NM_001289102, NM_001289103, NM_001289104, NM_001379608, NM_001379609, NM_002743

CCDS: CCDS32911, CCDS45977, CCDS74286

Canonical transcript exons

ENST00000677123 — 18 exons

Exon	Start	End
ENSE00000679902	11446272	11446350
ENSE00000679903	11445389	11445473
ENSE00000679905	11442386	11442515
ENSE00000679908	11441240	11441357
ENSE00000864733	11450646	11450968
ENSE00000864738	11448222	11448291
ENSE00001297744	11449266	11449428
ENSE00003473664	11447439	11447618
ENSE00003544580	11448914	11448988
ENSE00003550413	11449076	11449175
ENSE00003557728	11437876	11437971
ENSE00003585667	11438067	11438124
ENSE00003607499	11436389	11436505
ENSE00003624440	11436041	11436196
ENSE00003638344	11447693	11447789
ENSE00003663638	11447074	11447160
ENSE00003678825	11448540	11448629
ENSE00003909863	11435635	11435706

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.6451 / max 217.0966, expressed in 1667 samples.

Highest expression (Bgee): stromal cell of endometrium, type B pancreatic cell, olfactory bulb, ovary, C1 segment of cervical spinal cord.

Genetic regulation across tissues (GTEx eQTL / sQTL)

PRKCSH is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 32 tissues and its splicing (sQTL) in 42 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 74 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Cells Cultured fibroblasts	sqtl	1.9e-49	+1.75	19:11447636:A:G
Thyroid	sqtl	1.7e-27	+1.70	19:11447636:A:G
Adipose Subcutaneous	sqtl	3.4e-27	+1.66	19:11447636:A:G
Skin Sun Exposed Lower leg	sqtl	3.1e-26	+1.50	19:11447636:A:G
Testis	sqtl	1.6e-24	-1.17	19:11436685:C:T
Whole Blood	sqtl	6.0e-21	+1.39	19:11447636:A:G
Artery Tibial	sqtl	9.3e-21	+1.36	19:11447636:A:G
Brain Cerebellum	sqtl	1.4e-20	+1.31	19:11436685:C:T
Skin Not Sun Exposed Suprapubic	sqtl	5.9e-19	+1.44	19:11447636:A:G
Prostate	sqtl	2.0e-17	+1.91	19:11447636:A:G
Cells EBV-transformed lymphocytes	sqtl	1.5e-16	+1.55	19:11447636:A:G
Adipose Visceral Omentum	sqtl	4.2e-16	+1.49	19:11447636:A:G
Nerve Tibial	sqtl	6.0e-16	+1.37	19:11447636:A:G
Lung	sqtl	7.1e-16	+1.47	19:11447636:A:G
Colon Transverse	sqtl	5.1e-15	+1.49	19:11447636:A:G
Esophagus Muscularis	sqtl	5.2e-13	+1.38	19:11447636:A:G
Spleen	eqtl	1.2e-12	+0.37	19:11448343:A:G
Esophagus Mucosa	sqtl	1.2e-12	+1.32	19:11447636:A:G
Thyroid	eqtl	1.3e-12	+0.22	19:11448343:A:G
Breast Mammary Tissue	sqtl	1.7e-12	+1.32	19:11447636:A:G

FANTOM5 promoters

showing 10 of 14 alternative TSS:

Promoter ID	TPM avg	Samples expressed
173920	240.2410	1827
45608	13.6451	1667
173926	4.0159	428
173927	1.3303	831
173922	1.3169	844
173921	1.1611	653
173923	0.7458	441
173928	0.5445	255
45610	0.3678	111
173918	0.2860	119

Top tissues by expression

showing 100 of 294 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	99.33	gold quality
type B pancreatic cell	CL:0000169	99.18	gold quality
olfactory bulb	UBERON:0002264	99.15	silver quality
left ovary	UBERON:0002119	98.92	gold quality
right ovary	UBERON:0002118	98.83	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.81	gold quality
granulocyte	CL:0000094	98.75	gold quality
right uterine tube	UBERON:0001302	98.66	gold quality
body of pancreas	UBERON:0001150	98.59	gold quality
body of uterus	UBERON:0009853	98.58	gold quality
endocervix	UBERON:0000458	98.57	gold quality
right lobe of thyroid gland	UBERON:0001119	98.55	gold quality
adenohypophysis	UBERON:0002196	98.51	gold quality
left lobe of thyroid gland	UBERON:0001120	98.47	gold quality
gall bladder	UBERON:0002110	98.38	gold quality
spinal cord	UBERON:0002240	98.38	gold quality
ectocervix	UBERON:0012249	98.38	gold quality
small intestine Peyer’s patch	UBERON:0003454	98.37	gold quality
body of stomach	UBERON:0001161	98.34	gold quality
minor salivary gland	UBERON:0001830	98.33	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.33	gold quality
transverse colon	UBERON:0001157	98.31	gold quality
mucosa of transverse colon	UBERON:0004991	98.31	gold quality
thyroid gland	UBERON:0002046	98.30	gold quality
pituitary gland	UBERON:0000007	98.27	gold quality
skin of abdomen	UBERON:0001416	98.24	gold quality
skin of leg	UBERON:0001511	98.24	gold quality
cortical plate	UBERON:0005343	98.18	gold quality
ganglionic eminence	UBERON:0004023	98.16	gold quality
cerebellar hemisphere	UBERON:0002245	98.14	gold quality
ventricular zone	UBERON:0003053	98.14	gold quality
metanephros cortex	UBERON:0010533	98.14	gold quality
left uterine tube	UBERON:0001303	98.12	gold quality
cerebellar cortex	UBERON:0002129	98.09	gold quality
monocyte	CL:0000576	98.07	gold quality
left testis	UBERON:0004533	98.07	gold quality
left adrenal gland cortex	UBERON:0035825	98.03	gold quality
stomach	UBERON:0000945	98.01	gold quality
left adrenal gland	UBERON:0001234	98.01	gold quality
smooth muscle tissue	UBERON:0001135	98.00	gold quality
right testis	UBERON:0004534	97.99	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.99	gold quality
right lobe of liver	UBERON:0001114	97.97	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.97	gold quality
small intestine	UBERON:0002108	97.94	gold quality
islet of Langerhans	UBERON:0000006	97.91	gold quality
right adrenal gland	UBERON:0001233	97.90	gold quality
cardia of stomach	UBERON:0001162	97.88	gold quality
rectum	UBERON:0001052	97.87	gold quality
tibial nerve	UBERON:0001323	97.87	gold quality
right frontal lobe	UBERON:0002810	97.86	gold quality
pancreas	UBERON:0001264	97.84	gold quality
omental fat pad	UBERON:0010414	97.83	gold quality
lymph node	UBERON:0000029	97.82	gold quality
upper lobe of left lung	UBERON:0008952	97.82	gold quality
leukocyte	CL:0000738	97.81	gold quality
right lung	UBERON:0002167	97.81	gold quality
peritoneum	UBERON:0002358	97.80	gold quality
adrenal cortex	UBERON:0001235	97.79	gold quality
right coronary artery	UBERON:0001625	97.78	gold quality
right adrenal gland cortex	UBERON:0035827	97.78	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.78	gold quality
descending thoracic aorta	UBERON:0002345	97.77	gold quality
saliva-secreting gland	UBERON:0001044	97.76	gold quality
left coronary artery	UBERON:0001626	97.74	gold quality
mononuclear cell	CL:0000842	97.73	gold quality
thoracic aorta	UBERON:0001515	97.73	gold quality
ascending aorta	UBERON:0001496	97.72	gold quality
spleen	UBERON:0002106	97.71	gold quality
inferior olivary complex	UBERON:0002127	97.70	gold quality
coronary artery	UBERON:0001621	97.68	gold quality
colonic epithelium	UBERON:0000397	97.67	gold quality
mucosa of stomach	UBERON:0001199	97.67	gold quality
adrenal gland	UBERON:0002369	97.64	gold quality
putamen	UBERON:0001874	97.63	gold quality
apex of heart	UBERON:0002098	97.63	gold quality
amygdala	UBERON:0001876	97.61	gold quality
lower esophagus	UBERON:0013473	97.60	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.60	gold quality
upper lobe of lung	UBERON:0008948	97.55	gold quality
mouth mucosa	UBERON:0003729	97.52	gold quality
aorta	UBERON:0000947	97.51	gold quality
vermiform appendix	UBERON:0001154	97.49	gold quality
bone marrow cell	CL:0002092	97.47	gold quality
caecum	UBERON:0001153	97.46	gold quality
lower esophagus mucosa	UBERON:0035834	97.45	gold quality
fundus of stomach	UBERON:0001160	97.44	gold quality
adipose tissue of abdominal region	UBERON:0007808	97.44	gold quality
nucleus accumbens	UBERON:0001882	97.41	gold quality
popliteal artery	UBERON:0002250	97.39	gold quality
tibial artery	UBERON:0007610	97.39	gold quality
prostate gland	UBERON:0002367	97.31	gold quality
cerebellum	UBERON:0002037	97.28	gold quality
esophagus	UBERON:0001043	97.27	gold quality
hypothalamus	UBERON:0001898	97.26	gold quality
right atrium auricular region	UBERON:0006631	97.26	gold quality
caudate nucleus	UBERON:0001873	97.25	gold quality
ovary	UBERON:0000992	97.24	gold quality
embryo	UBERON:0000922	97.13	gold quality
zone of skin	UBERON:0000014	97.09	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-6819	yes	129.35
E-ANND-3	yes	13.55
E-CURD-112	no	2.51

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Ovary	tissue	165.8	medium
Pancreas	tissue	162.8	high
Bone marrow	tissue	160.1	medium
Salivary gland	tissue	137.5	medium
Thyroid gland	tissue	126.7	high
Choroid plexus	tissue	124.9
Liver	tissue	123.9	medium
Corpus callosum	tissue	118.8
Fallopian tube	tissue	118.7	high
Duodenum	tissue	112.9	high
Small intestine	tissue	110.0	high
Spinal cord	tissue	109.5
Parathyroid gland	tissue	109.1	low
Vagina	tissue	106.5	medium
Epididymis	tissue	106.4	high
Pituitary gland	tissue	105.6
Placenta	tissue	102.2	high
Skin 1	tissue	99.7	medium
Colon	tissue	99.7	high
Medulla oblongata	tissue	95.6
Rectum	tissue	92.6	high
Midbrain	tissue	92.4
Seminal vesicle	tissue	92.0	high
Endometrium 1	tissue	91.7	medium
Hippocampus	tissue	91.0	high
Cervix	tissue	90.2	medium
Lymph node	tissue	87.3	medium
Substantia nigra	tissue	86.7
Stomach 1	tissue	86.4	high
Locus coeruleus	tissue	86.4
Gallbladder	tissue	86.2	high
Superior colliculi	tissue	86.1
Nucleus accumbens	tissue	84.1
Adipose tissue	tissue	83.4	not detected
Thalamus	tissue	83.4
Pons	tissue	82.7
Prostate	tissue	82.6	medium
Tonsil	tissue	80.7	medium
Spleen	tissue	80.6	medium
Urinary bladder	tissue	78.3	medium
Thymus	tissue	78.1
Postcentral gyrus	tissue	76.8
Appendix	tissue	76.6	high
Testis	tissue	76.5	high
Adrenal gland	tissue	75.9	medium
Lung	tissue	75.8	high
Esophagus	tissue	75.4	medium
Breast	tissue	73.8	medium
Smooth muscle	tissue	73.2	low
Putamen	tissue	72.7
Periaqueductal gray	tissue	69.6
Hippocampal formation	tissue	69.5
Hypothalamus	tissue	68.4
Ventral forebrain	tissue	66.2
Kidney	tissue	65.6	medium
Heart muscle	tissue	65.3	not detected
Skeletal muscle	tissue	63.2	not detected
Caudate putamen	tissue	62.6
Septum	tissue	62.4
Frontal cortex	tissue	62.0

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Nucleus gracilis (122.2), White matter (118.8), Cerebellar white matter (114.9), Globus pallidus, externus (113.3), Medial olivary nucleus (112.3).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F4

miRNA regulators (miRDB)

Targeting PRKCSH by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

26 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-370-5P	99.78	66.81	706
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-328-5P	99.08	64.65	1000
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-4297	98.77	66.95	2013
HSA-MIR-1227-5P	98.65	65.32	1549
HSA-MIR-224-5P	98.33	70.12	1256
HSA-MIR-296-5P	97.61	64.02	851
HSA-MIR-4286	97.20	64.37	1587
HSA-MIR-874-5P	96.93	63.92	1014
HSA-MIR-5591-3P	96.23	67.03	489
HSA-MIR-2861	95.24	65.47	1056

Functional genomics

gnomAD constraint: pLI 2.26e-06, LOEUF 0.699, missense Z 0.397 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000677123 splits into 2 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
19:11,436,118–11,448,290	549 / 520.2	1.06	no
19:11,448,291–11,449,409	137 / 188.8	0.73	no
ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 20)

• Mutations in this protein cause isolated autosomal dominant polycystic liver disease. (PMID:12529853)
• germline mutations in PRKCSH as the probable cause of autosomal dominant polycystic liver disease (PMID:12577059)
• autosomal dominant polycystic liver disease is genetically heterogeneous (PMID:15057895)
• role of hepatocystin in carbohydrate processing and quality control of newly synthesized glycoproteins in the endoplasmic reticulum (PMID:15188177)
• results identify 80K-H as a new player involved in GLUT4 vesicle transport and identify a link between a kinase involved in the insulin signalling cascade, PKCzeta, and a known component of the GLUT4 vesicle trafficking pathway, munc18c (PMID:15707389)
• the majority of cysts from PRKCSH mutation carriers did not express hepatocystin (PMID:18224332)
• Hepatocystin is not secreted in liver cyst fluids of autosomal dominant polycystic liver disease patients, suggesting that mutant hepatocystin is either not produced or degraded intracellularly. (PMID:18419150)
• 80K-H is a novel regulator of IP3R1 activity, and it may contribute to neuronal functions. (PMID:18990696)
• These results indicate that insulin induces dynamic associations between PKCzeta, 80K-H, and munc18c and that 80K-H may act as a key signaling link between PKCzeta and munc18c in live cells. (PMID:19061073)
• Our results suggest that PRKCSH gene is not a major genetic cause of PCLD and there may be at least another locus responsible for the disease in Taiwan. (PMID:19308730)
• PRKCSH functions as a chaperone-like molecule, which prevents endoplasmic reticulum-associated degradation of TRPP2. (PMID:19801576)
• identified a total of 26 novel mutations in PRKCSH (n = 14) and SEC63 (n = 12), including four splice site mutations, eight insertions/ deletions, six non-sense mutations, and eight missense mutations (PMID:20095989)
• The common SNPs tested in DDOST, PRKCSH and LGALS3 do not seem to be associated with diabetic micro- or macrovascular complications or with type 1 diabetes in Finnish patients. (PMID:20490454)
• Results provide evidence that mutations at the coding PRKCSH GAG repeat are a target of MSI and are selectively associated with the MSI-H phenotype in gastric carcinomas. (PMID:21371016)
• The induction of autophagy by hepatocystin deficiency is mediated through mammalian target of rapamycin (mTOR). (PMID:21681021)
• Polycystic liver disease is recessive at the cellular level, and loss of functional PRKCSH is an important step in cystogenesis. (PMID:21856269)
• This study demonstrated that Large copy number variations on germline level are not present in patients with a clinical diagnosis of Severe Polycystic Liver Disease. (PMID:26365003)
• Results suggest that loss of PRKCSH and SEC63 leads to general defects in ciliogenesis, while quenching of the Wnt signaling cascade is cholangiocyte-restricted. (PMID:28973524)
• Potential role of PRKCSH in lung cancer: bioinformatics analysis and a case study of Nano ZnO. (PMID:35254362)
• PRKCSH serves as a potential immunological and prognostic biomarker in pan-cancer. (PMID:38245572)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	prkcsh	ENSDARG00000004470
mus_musculus	Prkcsh	ENSMUSG00000003402
rattus_norvegicus	Prkcsh	ENSRNOG00000013360
drosophila_melanogaster	GCS2beta	FBGN0032643
drosophila_melanogaster	CG7685	FBGN0038619
caenorhabditis_elegans		WBGENE00014249

Paralogs (1): GNPTG (ENSG00000090581)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:107877) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 9 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal startle reflex	1
premature death	1
liver cyst	1
kidney cyst	1
dilated kidney collecting duct	1
embryonic lethality during organogenesis, complete penetrance	1
preweaning lethality, complete penetrance	1
abnormal loop of Henle ascending limb thick segment morphology	1
embryonic lethality prior to organogenesis	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Bos taurus	Q28034	85.1%	Diamond
Saccharomyces cerevisiae S288C	Q04924	51.9%	Diamond
Arabidopsis thaliana	Q9FM96	50.3%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
ZNF653	protein-coding	115950
ELAVL3	protein-coding	1995
ECSIT	protein-coding	51295
EPOR	protein-coding	2057
RGL3	protein-coding	57139
MIR7974	ncRNA	102465856
ODAD3	protein-coding	115948
SWSAP1	protein-coding	126074
PLPPR2	protein-coding	64748

Protein

Protein identifiers

Glucosidase 2 subunit beta — P14314 (reviewed: P14314)

Alternative names: 80K-H protein, Glucosidase II subunit beta, Protein kinase C substrate 60.1 kDa protein heavy chain

All UniProt accessions (9): A0A0C4DGP4, A0A7I2V2T6, P14314, K7EIP3, K7EJ70, K7EKX1, K7EL27, K7ELL7, K7EPW7

UniProt curated annotations — full annotation on UniProt →

Function. Regulatory subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins. Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia.

Subunit / interactions. Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH). Binds glycosylated PTPRC.

Subcellular location. Endoplasmic reticulum.

Disease relevance. Polycystic liver disease 1 with or without kidney cysts (PCLD1) [MIM:174050] An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Glycan metabolism; N-glycan metabolism.

Isoforms (2)

UniProt ID	Names	Canonical?
P14314-1	1	yes
P14314-2	2

RefSeq proteins (7): NP_001001329, NP_001276031, NP_001276032, NP_001276033, NP_001366537, NP_001366538, NP_002734 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002048	EF_hand_dom	Domain
IPR009011	Man6P_isomerase_rcpt-bd_dom_sf	Homologous_superfamily
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR018247	EF_Hand_1_Ca_BS	Binding_site
IPR028146	PRKCSH_N	Domain
IPR036055	LDL_receptor-like_sf	Homologous_superfamily
IPR036607	PRKCSH	Domain
IPR039794	Gtb1-like	Family
IPR044865	MRH_dom	Domain

Pfam: PF12999, PF13015, PF13202

Enzyme classification (BRENDA)

• EC 3.2.1.207 — mannosyl-oligosaccharide alpha-1,3-glucosidase (BRENDA: 26 organisms, 73 substrates, 66 inhibitors, 27 Km, 5 kcat entries)

Substrate kinetics (BRENDA)

14 substrates with measured Km, best-characterized 14. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
MALTOSE	0.43–57.7	4
P-NITROPHENYL ALPHA-D-GLUCOPYRANOSIDE	0.78–481	4
4-NITROPHENYL ALPHA-D-GLUCOPYRANOSIDE	2.2–2.82	3
P-NITROPHENYL-ALPHA-D-GLUCOPYRANOSIDE	0.5–0.92	3
4-METHYLUMBELLIFERYL ALPHA-D-GLUCOPYRANOSIDE	0.013–0.019	2
4-METHYLUMBELLIFERYL-ALPHA-D-GLUCOPYRANOSIDE	0.0003	1
4-METHYLUMBELLIFERYL-ALPHA-D-GLUCOSIDE	0.0552	1
4-METHYLUMBELLYFERYL ALPHA-D-GLUCOPYRANOSIDE	0.055	1
MALTOHEXAOSE	15.3	1
MALTOTRIOSE	26.7	1
N-[[2-CARBOXY-5-(4-METHOXYPHENYL)THIOPHEN-3-YL]C	0.49	1
NIGEROSE	2.13	1
P-NITROPHENYL-2-DEOXY-ALPHA-D-GLUCOPYRANOSIDE	0.76	1
SUCROSE	15.3	1

UniProt features (73 total): binding site 19, strand 11, disulfide bond 8, sequence variant 8, modified residue 7, domain 5, compositionally biased region 3, helix 3, glycosylation site 2, region of interest 2, signal peptide 1, chain 1, splice variant 1, sequence conflict 1, short sequence motif 1

Structure

Experimental structures (PDB)

2 structures by resolution:

PDB	Title	Method	Resolution (Å)
8D43	Cryo-EM structure of human Kidney Glucosidase II	ELECTRON MICROSCOPY	2.88
8EMR	Cryo-EM structure of human liver glucosidase II	ELECTRON MICROSCOPY	2.92

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P14314-F1	84.33	0.66

Human Protein Atlas

Protein class: Predicted intracellular proteins, Plasma proteins, Disease related genes, Human disease related genes, Congenital malformations, Congenital malformations of the digestive system

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): endoplasmic reticulum

Antibody reliability (HPA): IH supported · IF approved

Functional residue map

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

Ligand- & substrate-binding residues (19)

Position	Role
49	substrate
50	Ca(2+)
53	Ca(2+)
53	substrate
55	Ca(2+)
57	Ca(2+)
63	Ca(2+)
64	Ca(2+)
91	Ca(2+)
94	Ca(2+)
96	Ca(2+)
98	Ca(2+)
104	Ca(2+)
105	Ca(2+)
222	Ca(2+)
224	Ca(2+)
226	Ca(2+)
228	Ca(2+)
233	Ca(2+)

Post-translational modifications (7)

Type	Positions
Phosphoserine	24, 89, 168, 383, 390, 434
N6-succinyllysine	166

Disulfide bonds (8)

Type	Positions
Disulfide bond	39–58, 56–70, 77–99, 97–112, 100–116, 415–428, 471–500, 485–512

Glycosylation sites (2)

Type	Positions
N-linked (glcnac…) asparagine	72, 476

Function

Pathways and Gene Ontology

Reactome pathways

7 curated (TAS) of 29; 11 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

29 pathways:

ID	Pathway	Evidence
R-HSA-9683686	Maturation of spike protein ⚕	curated
R-HSA-9694548	Maturation of spike protein ⚕	curated
R-HSA-901042	Calnexin/calreticulin cycle	curated
R-HSA-532668	N-glycan trimming in the ER and Calnexin/Calreticulin cycle	curated
R-HSA-8957275	Post-translational protein phosphorylation	curated
R-HSA-9768727	Regulation of CDH1 posttranslational processing and trafficking to plasma membrane	curated
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	curated
R-HSA-1643685	Disease ⚕	—
R-HSA-5663205	Infectious disease ⚕	—
R-HSA-9772573	Late SARS-CoV-2 Infection Events ⚕	—
R-HSA-9679506	SARS-CoV Infections ⚕	—
R-HSA-9678108	SARS-CoV-1 Infection ⚕	—
R-HSA-9694516	SARS-CoV-2 Infection ⚕	—
R-HSA-9683701	Translation of Structural Proteins ⚕	—
R-HSA-9694635	Translation of Structural Proteins ⚕	—
R-HSA-9824446	Viral Infection Pathways ⚕	—
R-HSA-418990	Adherens junctions interactions	—
R-HSA-879415	Advanced glycosylation endproduct receptor signaling	electronic
R-HSA-446203	Asparagine N-linked glycosylation	—
R-HSA-446728	Cell junction organization	—
R-HSA-1500931	Cell-Cell communication	—
R-HSA-421270	Cell-cell junction organization	—
R-HSA-168256	Immune System	—
R-HSA-168249	Innate Immune System	—
R-HSA-392499	Metabolism of proteins	—
R-HSA-597592	Post-translational protein modification	—
R-HSA-9764265	Regulation of CDH1 Expression and Function	—
R-HSA-9764274	Regulation of Expression and Function of Type I Classical Cadherins	—
R-HSA-9759476	Regulation of Homotypic Cell-Cell Adhesion	—

MSigDB gene sets: 640 (showing top): GOBP_N_GLYCAN_PROCESSING, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, REACTOME_INNATE_IMMUNE_SYSTEM, BOYAULT_LIVER_CANCER_SUBCLASS_G56_DN, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, ENK_UV_RESPONSE_KERATINOCYTE_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, YANG_BREAST_CANCER_ESR1_LASER_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, LUCAS_HNF4A_TARGETS_UP, GOBP_VESICLE_MEDIATED_TRANSPORT

GO Biological Process (3): liver development (GO:0001889), N-glycan processing (GO:0006491), intracellular signal transduction (GO:0035556)

GO Molecular Function (8): protein kinase C binding (GO:0005080), calcium ion binding (GO:0005509), transmembrane transporter binding (GO:0044325), phosphoprotein binding (GO:0051219), RNA binding (GO:0003723), protein binding (GO:0005515), protein-containing complex binding (GO:0044877), metal ion binding (GO:0046872)

GO Cellular Component (4): endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788), glucosidase II complex (GO:0017177), intracellular membrane-bounded organelle (GO:0043231)

Reactome top-level categories

showing 13 of 14 top-level categories:

Category	Pathways
Metabolism of proteins	2
Post-translational protein modification	2
Asparagine N-linked glycosylation	1
Innate Immune System	1
N-glycan trimming in the ER and Calnexin/Calreticulin cycle	1
Translation of Structural Proteins	1
Regulation of CDH1 Expression and Function	1
Immune System	1
Cell-cell junction organization	1
Cell junction organization	1
Cell-Cell communication	1
Disease	1
SARS-CoV Infections	1

GO top-level categories

21 GO namespaces:

Category	Terms
intracellular anatomical structure	2
protein binding	2
binding	2
gland development	1
hepaticobiliary system development	1
protein N-linked glycosylation	1
glycoprotein biosynthetic process	1
signal transduction	1
protein kinase binding	1
metal ion binding	1
nucleic acid binding	1
cation binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
endoplasmic reticulum	1
intracellular organelle lumen	1
endoplasmic reticulum protein-containing complex	1
glucosidase complex	1
membrane-bounded organelle	1
intracellular organelle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 7 of 15 annotations. The rest are phylogenetic / computational / electronic (IEA).

7 experimentally-supported GO terms:

GO term	NS	Evidence
N-glycan processing	BP	direct assay
endoplasmic reticulum	CC	direct assay
glucosidase II complex	CC	direct assay
intracellular membrane-bounded organelle	CC	mutant phenotype
phosphoprotein binding	MF	physical interaction
protein kinase C binding	MF	physical interaction
transmembrane transporter binding	MF	physical interaction

Protein interactions and networks

STRING

showing 15 of 1,414 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRKCSH	SEC63	Q9UGP8	963
PRKCSH	GANAB	Q14697	882
PRKCSH	DDOST	P39656	774
PRKCSH	MARCKS	P29966	766
PRKCSH	HERPUD1	Q15011	760
PRKCSH	PKD1	P98161	744
PRKCSH	ALG8	Q9BVK2	741
PRKCSH	PKD2	Q13563	730
PRKCSH	PKHD1	P08F94	677
PRKCSH	SEC61B	P38390	674
PRKCSH	MOGS	Q13724	601
PRKCSH	DNAJB11	Q9UBS4	596
PRKCSH	PRKD1	Q15139	562
PRKCSH	SEC61A1	P38378	547
PRKCSH	ALG5	Q9Y673	513

IntAct

Human interaction partners of PRKCSH in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

27 partners by confidence:

Partner	Interaction type	MIscore	Records
GANAB	direct interaction	0.610	5
RGS2	physical association	0.550	2
AURKA	association	0.530	2
CDC37	physical association	0.400	1
DMD	physical association	0.400	1
KIF27	physical association	0.400	1
LRRD1	physical association	0.400	1
NANOGNB	physical association	0.400	1
PLCZ1	physical association	0.400	1
PPIB	physical association	0.400	1
PRDM15	physical association	0.400	1
SPAG17	physical association	0.400	1
TOGARAM1	physical association	0.400	1
UNC13C	physical association	0.400	1
FXR1	physical association	0.370	1
GBA3	physical association	0.370	1
RPS6	physical association	0.370	1
VDR	physical association	0.370	1
K2	association	0.350	1
KLRG2	association	0.350	1
ARL4D	physical association	0.000	1
CDC5L	physical association	0.000	1
ELF3	physical association	0.000	1
GABARAPL2	physical association	0.000	1
GET4	physical association	0.000	1
IKBKE	physical association	0.000	1
TRAF6	physical association	0.000	1

BioGRID (360 interactions; top human partners by supporting records): AURKA (Affinity Capture-MS; 3 records), DENND6A (Affinity Capture-MS; 3 records), GANAB (Co-fractionation; 3 records), PEX14 (Affinity Capture-MS; 3 records), PITRM1 (Affinity Capture-MS; 3 records), SLC27A2 (Affinity Capture-MS; 3 records), TSC2 (Affinity Capture-MS; 3 records), ZGRF1 (Cross-Linking-MS (XL-MS); 3 records), C19orf10 (Cross-Linking-MS (XL-MS); 2 records), CALR (Affinity Capture-MS; 2 records), CALR3 (Proximity Label-MS; 2 records), CLEC4E (Affinity Capture-MS; 2 records), COPG1 (Affinity Capture-MS; 2 records), COX4I1 (Proximity Label-MS; 2 records), DNA2 (Affinity Capture-MS; 2 records)

SIGNOR signaling

1 signaling interactions:

A	Effect	B	Mechanism
PRKCSH	“form complex”	“Glucosidase II complex”	binding

Disease & clinical

Genetic variants

Variant evidence for PRKCSH: 528 ClinVar records (43 pathogenic / likely pathogenic); 4 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	24
Likely pathogenic	19
Uncertain significance	205
Likely benign	148
Benign	27

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 43 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
1048653	NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	8
3583455	NM_001289104.2(PRKCSH):c.1289dup (p.Tyr430Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	4
13240	NM_001289104.2(PRKCSH):c.1461+2_1461+3del	Pathogenic	criteria provided, multiple submitters, no conflicts	3
992438	NM_001289104.2(PRKCSH):c.1191dup (p.Ile398fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	3
1435046	NM_001289104.2(PRKCSH):c.353dup (p.Lys119fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
636894	NM_001289104.2(PRKCSH):c.762+2T>C	Likely pathogenic	criteria provided, multiple submitters, no conflicts	5
1685413	NM_001289104.2(PRKCSH):c.683+1G>A	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
3310005	NM_001289104.2(PRKCSH):c.684-1G>A	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
13238	NM_001289104.2(PRKCSH):c.1362-2A>G	Pathogenic	criteria provided, single submitter	2
13243	NM_001289104.2(PRKCSH):c.215dup (p.Asn72fs)	Pathogenic	criteria provided, single submitter	2
1255531	NM_001289104.2(PRKCSH):c.1290C>A (p.Tyr430Ter)	Pathogenic	criteria provided, single submitter	2
1255667	NM_001289104.2(PRKCSH):c.487C>T (p.Gln163Ter)	Pathogenic	criteria provided, single submitter	2
94076	NM_001289104.2(PRKCSH):c.1534G>T (p.Glu512Ter)	Pathogenic	criteria provided, single submitter	1
194734	NM_001289104.2(PRKCSH):c.1481_1484del (p.Lys494fs)	Pathogenic	criteria provided, single submitter	1
2752177	NM_001289104.2(PRKCSH):c.1467_1477del (p.Leu490fs)	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore PRKCSH’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 24 predictions of 1,497):

Position(s)	Effect	Δscore	Sites
19:11436387–11436388	acceptor_loss	1.0000	5
19:11436506–11436507	donor_loss	1.0000	3
19:11437873	acceptor_gain	1.0000
19:11437874–11437875	acceptor_loss	1.0000	6
19:11437973	donor_loss	1.0000	2
19:11438059	acceptor_gain	1.0000
19:11438064	acceptor_gain	1.0000
19:11438065	acceptor_loss	1.0000
19:11438122	donor_gain	1.0000
19:11438125–11438126	donor_loss	1.0000	3

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

Cancer	Prognostic	p-value
Liver Hepatocellular Carcinoma (validation)	unfavorable	0.000239

Disease associations

OMIM: gene MIM:177060 | disease phenotypes: MIM:174050

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
polycystic liver disease 1	Definitive	Autosomal dominant	5

ClinGen Gene-Disease Validity

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

1 validity classifications:

Disease	Classification	Inheritance
polycystic liver disease 1	Definitive	AD

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (5 panels, 5 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

5 panels:

Panel	Rating
Cystic kidney disease	green
Cystic renal disease	green
Ductal plate malformation	green
Polycystic liver disease	green
Unexplained young onset end-stage renal disease	green

Mondo (2): autosomal dominant polycystic liver disease (MONDO:0000447), polycystic liver disease 1 (MONDO:0008265)

Orphanet (1): Isolated polycystic liver disease (Orphanet:2924)

HPO phenotypes

26 phenotypes (HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000107	Renal cyst
HP:0000952	Jaundice
HP:0001541	Ascites
HP:0001654	Abnormal heart valve morphology
HP:0001732	Abnormality of the pancreas
HP:0002020	Gastroesophageal reflux
HP:0002027	Abdominal pain
HP:0002086	Abnormality of the respiratory system
HP:0002093	Respiratory insufficiency
HP:0002094	Dyspnea
HP:0002239	Gastrointestinal hemorrhage
HP:0002240	Hepatomegaly
HP:0002617	Vascular dilatation
HP:0003155	Elevated circulating alkaline phosphatase concentration
HP:0003270	Abdominal distention
HP:0003418	Back pain
HP:0003573	Increased total bilirubin
HP:0003581	Adult onset
HP:0004944	Dilatation of the cerebral artery
HP:0005562	Multiple renal cysts
HP:0006557	Polycystic liver disease
HP:0008872	Feeding difficulties in infancy
HP:0010741	Pedal edema
HP:0030948	Elevated gamma-glutamyltransferase level
HP:0033842	Early satiety

GWAS associations

4 associations:

Study	Trait	p-value
GCST009240_270	Serum metabolite levels (CMS)	1e-12
GCST003563_3	Presence of antiphospholipid antibodies	5e-8
GCST003563_8	Presence of antiphospholipid antibodies	3e-6
GCST003563_9	Presence of antiphospholipid antibodies	4e-6

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5242 (SINGLE PROTEIN)

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

1 measured of 1 human assays (1 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
CHEMBL5653589	KD	1440 nM

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.24	Kd	57.67	nM	CHEMBL5653589
7.24	ED50	57.67	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149082: Binding affinity to human PRKCSH incubated for 45 mins by Kinobead based pull down assay	kd	0.0577	uM

CTD chemical–gene interactions

63 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression, increases expression	3
sodium arsenite	increases expression	3
epigallocatechin gallate	affects cotreatment, increases expression	2
Air Pollutants	increases abundance, increases expression, affects cotreatment	2
Cadmium	decreases reaction, increases abundance, increases palmitoylation, decreases expression	2
Particulate Matter	increases abundance, increases expression, affects cotreatment	2
bisphenol F	increases expression	1
dicrotophos	increases expression	1
2,4,6-tribromophenol	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases expression, increases abundance, affects cotreatment	1
sodium arsenate	decreases expression	1
titanium dioxide	increases expression	1
pyrogallol 1,3-dimethyl ether	decreases expression, affects localization, increases expression, affects cotreatment	1
decabromobiphenyl ether	increases expression	1
beta-lapachone	decreases expression	1
tetrabromobisphenol A	increases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
sulindac sulfide	decreases expression	1
ochratoxin A	increases expression, increases acetylation	1
potassium chromate(VI)	affects cotreatment, increases expression	1
aflatoxin B2	decreases methylation	1
cupric oxide	decreases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
bisphenol B	increases expression	1
14-deoxy-11,12-didehydroandrographolide	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
pentabrominated diphenyl ether 100	increases expression	1
hexabrominated diphenyl ether 153	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652124	Binding	Binding affinity to human PRKCSH incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — *ChemMedChem*

Cellosaurus cell lines

2 cell lines: 1 transformed cell line, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3EW	Abcam HEK293T PRKCSH KO	Transformed cell line	Female
CVCL_E2HV	HAP1 PRKCSH (-)	Cancer cell line	Male

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

17 trials:

NCT	Phase	Status	Title
NCT01157858	Phase 2	COMPLETED	Everolimus and LongActing Octreotide Trial in Polycystic Livers
NCT01670110	Phase 2	COMPLETED	Pasireotide LAR in Severe Polycystic Liver Disease
NCT02021110	Phase 2	COMPLETED	Ursodeoxycholic Acid as Treatment for Polycystic Liver Disease
NCT05478083	Phase 2	RECRUITING	A GnRH Agonist IN Pre-menopausal Women STudy to Treat Severe Polycystic Liver Disease
NCT00426153	Phase 2/3	COMPLETED	Octreotide in Severe Polycystic Liver Disease
NCT00565097	Phase 2/3	COMPLETED	Lanreotide as Treatment of Polycystic Livers
NCT00771888	Phase 2/3	UNKNOWN	Open-Label Extension of LOCKCYST Trial
NCT01315795	Phase 2/3	COMPLETED	Lanreotide Autogel in the Treatment of Symptomatic Polycystic Liver Disease
NCT05281328	Phase 2/3	ACTIVE_NOT_RECRUITING	A Trial to Assess the Efficacy and Safety of Octreotide Subcutaneous Depot in Patients With PLD
NCT00934791	Not specified	TERMINATED	Polycystic Liver Disease in Kidney Transplant
NCT01354405	Not specified	COMPLETED	Somatostatin Analogues as a Volume Reducing Treatment of Polycystic Livers (RESOLVE)
NCT02173080	Not specified	COMPLETED	Development and Assessment of The Polycystic Liver Disease Questionnaire (PLD-Q).
NCT03960710	Not specified	UNKNOWN	Automatic Segmentation of Polycystic Liver
NCT04645251	Not specified	RECRUITING	Polycystic Liver Disease Registry (UK)
NCT05215964	Not specified	UNKNOWN	The Association Between Skeletal Muscle Mass and Severity of Polycystic Liver Disease and Polycystic Kidney Disease
NCT05500157	Not specified	UNKNOWN	Assessment of Treatment With Laparoscopic Fenestration or Aspiration Sclerotherapy for Large Symptomatic Hepatic Cysts
NCT04111692	Not specified	RECRUITING	A Prospective Observational Study of Foam Sclerotherapy .

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for PRKCSH across ~30M SureChEMBL compounds — explore on Sugi Predict.