GPS1

Summary

GPS1 (G protein pathway suppressor 1, HGNC:4549) is a protein-coding gene on chromosome 17q25.3, encoding COP9 signalosome complex subunit 1 (Q13098). Essential component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. It is a common-essential gene (DepMap: required in 98.7% of cancer cell lines).

This gene is known to suppress G-protein and mitogen-activated signal transduction in mammalian cells. The encoded protein shares significant similarity with Arabidopsis FUS6, which is a regulator of light-mediated signal transduction in plant cells.

Source: NCBI Gene 2873 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 100 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 98.7% of screened cell lines (common-essential)
• MANE Select transcript: NM_001321092

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4549
Approved symbol	GPS1
Name	G protein pathway suppressor 1
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	COPS1, CSN1
Ensembl gene	ENSG00000169727
Ensembl biotype	protein_coding
OMIM	601934
Entrez	2873

Gene structure

Transcript identifiers

Ensembl transcripts: 60 — 51 protein_coding, 5 nonsense_mediated_decay, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000306823, ENST00000320548, ENST00000392357, ENST00000392358, ENST00000578168, ENST00000578279, ENST00000578392, ENST00000578552, ENST00000578642, ENST00000580141, ENST00000580627, ENST00000580716, ENST00000580723, ENST00000581418, ENST00000581578, ENST00000582327, ENST00000583009, ENST00000583486, ENST00000583641, ENST00000583885, ENST00000583961, ENST00000583983, ENST00000584229, ENST00000584460, ENST00000585084, ENST00000623691, ENST00000623761, ENST00000624957, ENST00000706669, ENST00000706670, ENST00000909667, ENST00000909668, ENST00000909669, ENST00000909670, ENST00000909671, ENST00000909672, ENST00000909673, ENST00000909674, ENST00000909675, ENST00000909676, ENST00000909677, ENST00000909678, ENST00000909679, ENST00000909680, ENST00000939658, ENST00000939659, ENST00000939660, ENST00000939661, ENST00000939662, ENST00000939663, ENST00000939664, ENST00000939665, ENST00000953769, ENST00000953770, ENST00000953771, ENST00000953772, ENST00000953773, ENST00000953774, ENST00000953775, ENST00000953776

RefSeq mRNA: 28 — MANE Select: NM_001321092 NM_001321089, NM_001321090, NM_001321091, NM_001321092, NM_001321093, NM_001330539, NM_001330541, NM_001394759, NM_001394760, NM_001394761, NM_001394762, NM_001394763, NM_001394764, NM_001394765, NM_001394766, NM_001394767, NM_001394768, NM_001394769, NM_001394770, NM_001394771, NM_001394772, NM_001394773, NM_001394774, NM_001394775, NM_001394776, NM_001394777, NM_004127, NM_212492

CCDS: CCDS11800, CCDS32774, CCDS82225, CCDS82226, CCDS82227, CCDS82228, CCDS92418

Canonical transcript exons

ENST00000578552 — 13 exons

Exon	Start	End
ENSE00001429141	82057053	82057470
ENSE00003464267	82053868	82054049
ENSE00003475466	82056840	82056974
ENSE00003482034	82056001	82056095
ENSE00003508668	82056470	82056550
ENSE00003516318	82056286	82056391
ENSE00003560649	82054898	82054975
ENSE00003612999	82054510	82054810
ENSE00003633884	82055740	82055825
ENSE00003671038	82055162	82055222
ENSE00003673214	82053274	82053366
ENSE00003694470	82056629	82056766
ENSE00003996547	82051898	82051964

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 97.57.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 52.4283 / max 195.7313, expressed in 1820 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
163460	50.7424	1819
163458	0.7697	453
163461	0.4335	222
163463	0.2173	82
163459	0.1545	81
163462	0.1109	32

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	97.57	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.37	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.34	gold quality
cerebellar hemisphere	UBERON:0002245	96.99	gold quality
cerebellar cortex	UBERON:0002129	96.92	gold quality
gastrocnemius	UBERON:0001388	96.91	gold quality
right frontal lobe	UBERON:0002810	96.62	gold quality
adenohypophysis	UBERON:0002196	96.61	gold quality
right testis	UBERON:0004534	96.56	gold quality
left testis	UBERON:0004533	96.54	gold quality
metanephros cortex	UBERON:0010533	96.41	gold quality
muscle of leg	UBERON:0001383	96.37	gold quality
ganglionic eminence	UBERON:0004023	96.33	gold quality
right lobe of liver	UBERON:0001114	96.30	gold quality
cortical plate	UBERON:0005343	96.06	gold quality
anterior cingulate cortex	UBERON:0009835	96.04	gold quality
cingulate cortex	UBERON:0003027	96.01	gold quality
right lobe of thyroid gland	UBERON:0001119	95.96	gold quality
body of stomach	UBERON:0001161	95.95	gold quality
nerve	UBERON:0001021	95.94	gold quality
tibial nerve	UBERON:0001323	95.94	gold quality
left lobe of thyroid gland	UBERON:0001120	95.88	gold quality
stromal cell of endometrium	CL:0002255	95.79	gold quality
right atrium auricular region	UBERON:0006631	95.79	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.77	gold quality
right ovary	UBERON:0002118	95.75	gold quality
ventricular zone	UBERON:0003053	95.75	gold quality
prefrontal cortex	UBERON:0000451	95.71	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.68	gold quality
left adrenal gland cortex	UBERON:0035825	95.61	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.60
E-GEOD-81383	no	508.69

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPB

miRNA regulators (miRDB)

8 targeting GPS1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-6804-3P	98.72	64.82	852
HSA-MIR-4664-5P	98.17	65.07	1020
HSA-MIR-204-3P	97.80	66.84	1656
HSA-MIR-4646-5P	97.70	66.84	1692
HSA-MIR-342-5P	97.25	64.10	817
HSA-MIR-6828-3P	96.06	67.61	1155
HSA-MIR-4485-5P	95.91	59.69	198

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.7% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 8)

• The N-terminal half of CSN1/GPS1 is required to repress c-fos expression and to inhibit AP-1 and SRE transactivation, while the C-terminal half allows integration of the protein into the COP9 signalosome. (PMID:11114242)
• CSN1 inhibits c-Jun phosphorylation without affecting its protein stability. (PMID:21604193)
• An increased level of CSN1 and CSN5 as an important part of the ubiquitin proteasome system (UPS) might be associated with the pathophysiology of preeclampsia. (PMID:22103747)
• We analyzed whether CSN1 alone can increase DEN1 degradation in HeLa cells.these data suggest that the COP9 signalosome supports proteasome-dependent protein degradation of DEN1/DenA in fungi and in human cells. (PMID:23408908)
• CSN1 appears to play a role not only in DNA repair but also in UV-induced apoptosis. (PMID:26986008)
• We identified recurrent mutations in the novel penile cancer tumor suppressor genes CSN1(GPS1) and FAT1 (PMID:27325650)
• CSN1 facilitates proliferation and migration of hepatocellular carcinoma cells by upregulating cyclin A2 expression. (PMID:33200803)
• Bioinformatics analysis of GPS1 expression and biological function in breast cancer. (PMID:38289496)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	gps1	ENSDARG00000040650
mus_musculus	Gps1	ENSMUSG00000025156
rattus_norvegicus	Gps1	ENSRNOG00000046698
drosophila_melanogaster	CSN1b	FBGN0027057
caenorhabditis_elegans		WBGENE00000813

Paralogs (1): PSMD6 (ENSG00000163636)

Protein

Protein identifiers

COP9 signalosome complex subunit 1 — Q13098 (reviewed: Q13098)

Alternative names: G protein pathway suppressor 1, JAB1-containing signalosome subunit 1, Protein MFH

All UniProt accessions (20): A0A096LP07, A0A096LPJ3, A0A9L9PX62, A0A9L9PXT0, A8K070, C9JFE4, Q13098, J3KRE8, J3KRJ4, J3KRY5, J3KSA5, J3KSY1, J3KTB0, J3QL53, J3QLE8, J3QLT0, J3QQP2, J3QQX0, J3QS84, J3QS88

UniProt curated annotations — full annotation on UniProt →

Function. Essential component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Suppresses G-protein- and mitogen-activated protein kinase-mediated signal transduction.

Subunit / interactions. Component of the CSN complex, composed of COPS1/GPS1, COPS2, COPS3, COPS4, COPS5, COPS6, COPS7 (COPS7A or COPS7B), COPS8 and COPS9 isoform 1. In the complex, it probably interacts directly with COPS2, COPS3, COPS4 and COPS5. Interacts directly with inositol kinase ITPK1. Interacts with CAPN8. Interacts with USP48. Interacts with ASB4; this interaction negatively regulates GPS1.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Widely expressed.

Domain organisation. The PCI domain is necessary and sufficient for the interactions with other CSN subunits of the complex. Mediates the interaction with CAPN8. The N-terminal part (1-216), which is not required for deneddylating activity and CSN complex formation, is nevertheless essential for other aspects of CSN complex function, such as repression of c-fos/FOS expression.

Similarity. Belongs to the CSN1 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q13098-4	1	yes
Q13098-5	4
Q13098-6	3
Q13098-7	2

RefSeq proteins (28): NP_001308018, NP_001308019, NP_001308020, NP_001308021, NP_001308022, NP_001317468, NP_001317470, NP_001381688, NP_001381689, NP_001381690, NP_001381691, NP_001381692, NP_001381693, NP_001381694, NP_001381695, NP_001381696, NP_001381697, NP_001381698, NP_001381699, NP_001381700, NP_001381701, NP_001381702, NP_001381703, NP_001381704, NP_001381705, NP_001381706, NP_004118, NP_997657 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000717	PCI_dom	Domain
IPR019585	Rpn7/CSN1	Family
IPR036390	WH_DNA-bd_sf	Homologous_superfamily
IPR045135	Rpn7_N	Domain
IPR048624	CSN1_C	Domain

Pfam: PF01399, PF10602, PF21151

UniProt features (14 total): splice variant 4, modified residue 4, initiator methionine 1, chain 1, sequence conflict 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

28 structures.

PDB	Method	Resolution (Å)
9QO4	ELECTRON MICROSCOPY	2.95
9EFQ	ELECTRON MICROSCOPY	2.96
9PH4	ELECTRON MICROSCOPY	3
9QO6	ELECTRON MICROSCOPY	3
9EFV	ELECTRON MICROSCOPY	3.03
9EFM	ELECTRON MICROSCOPY	3.16
9QO1	ELECTRON MICROSCOPY	3.23
9QO0	ELECTRON MICROSCOPY	3.26
9E77	ELECTRON MICROSCOPY	3.3
9E81	ELECTRON MICROSCOPY	3.3
9EG8	ELECTRON MICROSCOPY	3.39
9E5Z	ELECTRON MICROSCOPY	3.4
9EG1	ELECTRON MICROSCOPY	3.52
4D10	X-RAY DIFFRACTION	3.8
9QO2	ELECTRON MICROSCOPY	3.8
9EGL	ELECTRON MICROSCOPY	3.93
9QO5	ELECTRON MICROSCOPY	4
4D18	X-RAY DIFFRACTION	4.08
8H38	ELECTRON MICROSCOPY	4.25
9QO3	ELECTRON MICROSCOPY	4.6
4WSN	X-RAY DIFFRACTION	5.5
6R7I	ELECTRON MICROSCOPY	5.9
6R7N	ELECTRON MICROSCOPY	6.5
8H3F	ELECTRON MICROSCOPY	6.73
8H3A	ELECTRON MICROSCOPY	7.51
6R7F	ELECTRON MICROSCOPY	8.2
6R6H	ELECTRON MICROSCOPY	8.4
6R7H	ELECTRON MICROSCOPY	8.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13098-F1	85.04	0.69

Functional residue map

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

Post-translational modifications (4): 468, 474, 479, 483

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-5696394	DNA Damage Recognition in GG-NER
R-HSA-6781823	Formation of TC-NER Pre-Incision Complex
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis
R-HSA-8951664	Neddylation
R-HSA-9013422	RHOBTB1 GTPase cycle

MSigDB gene sets: 108 (showing top): ELVIDGE_HYPOXIA_DN, HSIAO_HOUSEKEEPING_GENES, GOBP_PROTEIN_NEDDYLATION, REACTOME_MEMBRANE_TRAFFICKING, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, PATIL_LIVER_CANCER, MYCMAX_01, GOBP_JNK_CASCADE, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, BERNARD_PPAPDC1B_TARGETS_UP, REACTOME_DNA_REPAIR, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, BENPORATH_OCT4_TARGETS, GOCC_COP9_SIGNALOSOME, GOBP_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS

GO Biological Process (4): protein deneddylation (GO:0000338), JNK cascade (GO:0007254), protein neddylation (GO:0045116), regulation of protein neddylation (GO:2000434)

GO Molecular Function (2): GTPase inhibitor activity (GO:0005095), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), COP9 signalosome (GO:0008180), protein-containing complex (GO:0032991)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Global Genome Nucleotide Excision Repair (GG-NER)	1
Transcription-Coupled Nucleotide Excision Repair (TC-NER)	1
Clathrin-mediated endocytosis	1
Post-translational protein modification	1
RHOBTB GTPase Cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
protein modification by small protein removal	1
MAPK cascade	1
protein modification by small protein conjugation	1
protein neddylation	1
regulation of protein modification by small protein conjugation or removal	1
GTPase activity	1
enzyme inhibitor activity	1
GTPase regulator activity	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
nuclear protein-containing complex	1
cellular_component	1

Protein interactions and networks

STRING

1734 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GPS1	COPS3	Q9UNS2	961
GPS1	GPS2	Q13227	956
GPS1	COPS2	P61201	948
GPS1	COPS5	Q92905	895
GPS1	COPS8	Q99627	893
GPS1	COPS4	Q9BT78	814
GPS1	COPS6	Q7L5N1	804
GPS1	COPS7A	Q9UBW8	795
GPS1	COPS7B	Q9H9Q2	749
GPS1	TTC4	O95801	565
GPS1	CYP8B1	Q9UNU6	549
GPS1	ASB4	Q9Y574	549
GPS1	NEDD8	Q15843	540
GPS1	SLC1A2	P43004	484
GPS1	CRP	P02741	475

IntAct

165 interactions, top by confidence:

A	B	Type	Score
CUL2	VHL	psi-mi:“MI:0914”(association)	0.940
NEDD8	UBE2M	psi-mi:“MI:0914”(association)	0.940
GPS1	COPS5	psi-mi:“MI:0914”(association)	0.940
COPS5	COPS2	psi-mi:“MI:0914”(association)	0.910
CUL5	SOCS2	psi-mi:“MI:0914”(association)	0.880
COPS3	COPS2	psi-mi:“MI:0914”(association)	0.870
GPS1	COPS2	psi-mi:“MI:0915”(physical association)	0.860
COPS2	GPS1	psi-mi:“MI:0914”(association)	0.860
COPS8	COPS2	psi-mi:“MI:0914”(association)	0.850
KLHL12	KLHL2	psi-mi:“MI:0914”(association)	0.850
CUL4B	COPS2	psi-mi:“MI:0914”(association)	0.790
STK11	HSP90AA1	psi-mi:“MI:0914”(association)	0.740
COPS6	RHOBTB1	psi-mi:“MI:0914”(association)	0.730

BioGRID (450): IP6K1 (Reconstituted Complex), COPS8 (Affinity Capture-Western), CUL1 (Affinity Capture-Western), CUL2 (Affinity Capture-Western), CUL3 (Affinity Capture-Western), SKP1 (Affinity Capture-Western), SKP2 (Affinity Capture-Western), RBX1 (Affinity Capture-Western), GPS1 (Affinity Capture-Western), RELA (Affinity Capture-Western), USP48 (Affinity Capture-Western), GPS1 (Affinity Capture-MS), GPS1 (Affinity Capture-MS), GPS1 (Affinity Capture-MS), GPS1 (Affinity Capture-MS)

ESM2 similar proteins: A0A8I3PI99, A0M8U1, A7Y521, B5DEN9, C5HGF3, O88544, O94973, P13666, P17427, P18484, P38024, Q00765, Q0VCK5, Q0X0A5, Q13098, Q1RLU8, Q28635, Q2PG42, Q3KNM2, Q3SZA0, Q3T0N3, Q3T126, Q3T178, Q3ZC24, Q4R5E6, Q5F418, Q5I0H4, Q5M7T4, Q5R648, Q5R9B0, Q5R9M4, Q5RE33, Q5ZJ41, Q5ZJD7, Q6DGW9, Q6GM44, Q6NRT5, Q7TQ48, Q8C407, Q8R1Z9

Diamond homologs: P45432, P68352, P97834, Q13098, Q54QX3, Q5BD89, Q6NRT5, Q7RXQ1, Q99LD4, Q9VVU5

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
GPS1	“form complex”	“COP9 signalosome variant 2”	binding
GPS1	“form complex”	“COP9 signalosome variant 1”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 140 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
DNA Damage Recognition in GG-NER	10	26.9×	6e-10
Formation of TC-NER Pre-Incision Complex	9	18.0×	2e-07
Neddylation	33	14.8×	2e-27
Cargo recognition for clathrin-mediated endocytosis	9	8.9×	8e-05
Antigen processing: Ubiquitination & Proteasome degradation	19	6.7×	8e-09

GO biological processes:

GO term	Partners	Fold	FDR
regulation of protein neddylation	7	51.2×	1e-08
protein neddylation	8	43.9×	2e-09
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	8	23.4×	3e-07
intrinsic apoptotic signaling pathway	6	16.8×	2e-04
cellular response to UV	5	11.6×	6e-03
G1/S transition of mitotic cell cycle	7	11.0×	4e-04
protein ubiquitination	31	10.0×	2e-19
proteasome-mediated ubiquitin-dependent protein catabolic process	19	7.7×	2e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	69
Likely benign	3
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

2548 predictions. Top by Δscore:

Variant	Effect	Δscore
17:82050765:C:CC	acceptor_gain	1.0000
17:82051292:A:AC	donor_gain	1.0000
17:82051292:ACCG:A	donor_gain	1.0000
17:82051292:ACCGC:A	donor_gain	1.0000
17:82051293:C:CC	donor_gain	1.0000
17:82051293:CCG:C	donor_gain	1.0000
17:82051293:CCGC:C	donor_gain	1.0000
17:82051293:CCGCC:C	donor_gain	1.0000
17:82051340:CGT:C	acceptor_gain	1.0000
17:82051438:AGAC:A	donor_gain	1.0000
17:82051496:GCAC:G	donor_loss	1.0000
17:82051497:CACC:C	donor_loss	1.0000
17:82051498:A:C	donor_loss	1.0000
17:82051499:CCT:C	donor_loss	1.0000
17:82051499:CCTG:C	donor_gain	1.0000
17:82051562:T:TA	donor_gain	1.0000
17:82053227:G:A	acceptor_gain	1.0000
17:82053362:GCCTG:G	donor_gain	1.0000
17:82053363:CCTGG:C	donor_loss	1.0000
17:82053365:TGG:T	donor_loss	1.0000
17:82053366:GGTA:G	donor_loss	1.0000
17:82053367:G:GG	donor_gain	1.0000
17:82053367:GTAC:G	donor_loss	1.0000
17:82053368:T:A	donor_loss	1.0000
17:82053855:T:TA	acceptor_gain	1.0000
17:82053859:T:TA	acceptor_gain	1.0000
17:82053866:A:AG	acceptor_gain	1.0000
17:82053866:AG:A	acceptor_gain	1.0000
17:82053867:G:A	acceptor_gain	1.0000
17:82053867:G:GT	acceptor_gain	1.0000

AlphaMissense

3217 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:82053920:T:C	L60P	1.000
17:82054623:T:C	L145P	1.000
17:82054635:T:C	L149P	1.000
17:82054646:A:G	K153E	1.000
17:82054648:G:C	K153N	1.000
17:82054648:G:T	K153N	1.000
17:82054659:T:A	I157N	1.000
17:82054659:T:C	I157T	1.000
17:82054661:A:G	K158E	1.000
17:82054662:A:T	K158I	1.000
17:82054663:A:C	K158N	1.000
17:82054663:A:T	K158N	1.000
17:82054664:G:A	E159K	1.000
17:82054665:A:T	E159V	1.000
17:82054667:A:C	S160R	1.000
17:82054669:C:A	S160R	1.000
17:82054669:C:G	S160R	1.000
17:82054671:T:A	I161N	1.000
17:82054673:C:G	R162G	1.000
17:82054674:G:C	R162P	1.000
17:82054677:G:C	R163P	1.000
17:82054679:G:C	G164R	1.000
17:82054680:G:A	G164D	1.000
17:82054692:T:C	L168P	1.000
17:82054694:G:C	G169R	1.000
17:82054695:G:A	G169D	1.000
17:82054695:G:T	G169V	1.000
17:82054730:G:C	A181P	1.000
17:82054731:C:A	A181D	1.000
17:82054734:T:C	L182P	1.000

dbSNP variants (sampled 300 via entrez): RS1000349452 (17:82052652 C>A,T), RS1000364181 (17:82052246 C>T), RS1000457989 (17:82055675 G>A,T), RS10013 (17:82057352 C>G), RS1001889356 (17:82051306 C>G,T), RS1001955385 (17:82053146 C>T), RS1002256662 (17:82051094 G>A,C), RS1002317529 (17:82055648 C>A,T), RS1002382881 (17:82056215 C>A,T), RS1002548528 (17:82054164 C>A,T), RS1003079366 (17:82049589 G>A,T), RS1004005110 (17:82051345 G>A), RS1004391283 (17:82051140 G>A,C,T), RS1004828423 (17:82055281 G>A,C), RS1005097959 (17:82055426 C>G,T)

Disease associations

OMIM: gene MIM:601934 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066406 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, decreases expression, increases abundance	5
bisphenol A	decreases expression, increases expression	3
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
beta-lapachone	decreases expression	1
arsenite	affects binding, increases reaction	1
methacrylaldehyde	affects cotreatment, increases oxidation, 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
14-deoxy-11,12-didehydroandrographolide	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
bisphenol S	increases expression	1
jinfukang	increases expression	1
LDN 193189	increases expression, affects cotreatment	1
(+)-JQ1 compound	decreases expression	1
bisphenol AF	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Arsenic	increases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	decreases phosphorylation	1
Doxorubicin	increases expression	1
Ivermectin	decreases expression	1
Lead	decreases expression	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Rotenone	increases expression	1
Smoke	decreases expression	1
Valproic Acid	increases methylation	1
Asbestos, Crocidolite	affects expression	1
Cadmium Chloride	decreases 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
CHEMBL5651500	Binding	Binding affinity to human GPS1 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

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_KT59	HeLa SilenciX GPS1	Cancer cell line	Female

Clinical trials (associated diseases)

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