SUGT1

Summary

SUGT1 (SGT1 assembly cochaperone of MIS12 kinetochore complex, HGNC:16987) is a protein-coding gene on chromosome 13q14.3, encoding Protein SGT1 homolog (Q9Y2Z0). May play a role in ubiquitination and subsequent proteasomal degradation of target proteins. It is a selective cancer dependency (DepMap: 62.7% of cell lines).

This gene encodes a highly conserved nuclear protein involved in kinetochore function and required for the G1/S and G2/M transitions. This protein interacts with heat shock protein 90. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene have been defined on several different chromosomes.

Source: NCBI Gene 10910 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 63 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 62.7% of screened cell lines
• MANE Select transcript: NM_006704

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16987
Approved symbol	SUGT1
Name	SGT1 assembly cochaperone of MIS12 kinetochore complex
Location	13q14.3
Locus type	gene with protein product
Status	Approved
Aliases	SGT1
Ensembl gene	ENSG00000165416
Ensembl biotype	protein_coding
OMIM	604098
Entrez	10910

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 10 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000310528, ENST00000343788, ENST00000483074, ENST00000609175, ENST00000926009, ENST00000926010, ENST00000926011, ENST00000926012, ENST00000961300, ENST00000961301, ENST00000961302, ENST00000961303

RefSeq mRNA: 3 — MANE Select: NM_006704 NM_001130912, NM_001320831, NM_006704

CCDS: CCDS45050, CCDS9436

Canonical transcript exons

ENST00000310528 — 13 exons

Exon	Start	End
ENSE00001092896	52666812	52666919
ENSE00001196779	52679974	52680155
ENSE00001196785	52676230	52676320
ENSE00001475806	52665637	52665733
ENSE00001933958	52652836	52652958
ENSE00003470145	52662649	52662702
ENSE00003500099	52657532	52657622
ENSE00003517745	52659179	52659249
ENSE00003559307	52658399	52658468
ENSE00003600880	52653046	52653103
ENSE00003621393	52664035	52664057
ENSE00003653957	52663096	52663112
ENSE00003705855	52687734	52700909

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 98.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 43.9116 / max 344.4867, expressed in 1818 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
135241	29.3135	1804
135242	5.8557	1649
135237	2.0659	1228
135239	1.9985	1288
135240	1.9899	1241
135243	1.0701	759
135238	0.9068	606
135236	0.7112	452

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	98.91	gold quality
epithelial cell of pancreas	CL:0000083	98.53	gold quality
cardiac muscle of right atrium	UBERON:0003379	98.53	gold quality
left ventricle myocardium	UBERON:0006566	98.35	gold quality
oocyte	CL:0000023	98.00	gold quality
cartilage tissue	UBERON:0002418	97.40	gold quality
parietal pleura	UBERON:0002400	97.27	gold quality
tibia	UBERON:0000979	97.24	gold quality
pancreatic ductal cell	CL:0002079	97.21	gold quality
esophagus squamous epithelium	UBERON:0006920	97.17	gold quality
gingival epithelium	UBERON:0001949	97.16	gold quality
tendon of biceps brachii	UBERON:0008188	97.11	gold quality
visceral pleura	UBERON:0002401	96.95	gold quality
gingiva	UBERON:0001828	96.90	gold quality
myocardium	UBERON:0002349	96.86	gold quality
ileal mucosa	UBERON:0000331	96.82	gold quality
secondary oocyte	CL:0000655	96.65	gold quality
germinal epithelium of ovary	UBERON:0001304	96.61	gold quality
medial globus pallidus	UBERON:0002477	96.55	gold quality
sperm	CL:0000019	96.54	gold quality
inferior vagus X ganglion	UBERON:0005363	96.37	gold quality
pylorus	UBERON:0001166	96.36	gold quality
tibialis anterior	UBERON:0001385	96.24	gold quality
globus pallidus	UBERON:0001875	96.24	gold quality
parotid gland	UBERON:0001831	96.08	gold quality
dorsal root ganglion	UBERON:0000044	96.07	gold quality
oral cavity	UBERON:0000167	96.07	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.05	gold quality
cardia of stomach	UBERON:0001162	96.04	gold quality
amniotic fluid	UBERON:0000173	95.94	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

64 targeting SUGT1, 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-1252-5P	100.00	69.80	2774
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-22-3P	99.93	68.13	917
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-4422	99.72	72.07	2908

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 62.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 21)

• Sgt1 binds to S100A6 in a calcium-regulated manner (PMID:12746458)
• SGt1.2 is a splicing variant of SGT1 and widely expressed in human adult tissue. (PMID:15346769)
• Multiple lines of evidence show that SGT1 plays an essential role in signaling pathways linked to Nod1 activation in epithelial lineage cells. (PMID:17420470)
• This suggests that the interaction of Sgt1 with Hsp70 and Hsp90 is regulated by S100A6 in a Ca(2+)-dependent manner. (PMID:17466273)
• Sgt1 is a co-chaperone protein with an expression pattern matching that of the well known heat shock proteins. (PMID:18358234)
• protein kinase CK2 phosphorylates Ser(361) on Sgt1, and this phosphorylation inhibits Sgt1 dimerization (PMID:19398558)
• SUGT1 amplification might give rise to promoting transcription of the gene directly subsequent to the progression of colorectal cancer cases with worsening prognosis (PMID:20126976)
• Sgt1 translocates to the nucleus due to heat shock. S100A6 is necessary for nuclear translocation of the Sgt1 protein. (PMID:20213445)
• These findings support a novel role for Hsp90-Sgt1 chaperones in ensuring the fidelity of Mis12 multiprotein complex assembly. (PMID:20404110)
• S100A6-Ca(2+)-mediated Sgt1 dephosphorylation promotes its nuclear translocation, most likely due to disruption of the Sgt1-Hsp90 complex (PMID:21864708)
• Plk1 is required for the kinetochore localization of Sgt1 and phosphorylates serine 331 of Sgt1 at the kinetochores. (PMID:22869522)
• Chp-1 and melusin can interact with cochaperones PP5 and Sgt1 and with each other in an ATP-dependent manner (PMID:23184943)
• our data revealed a previously uncovered role of SGT1 in gastric cancer development, and suggested that SGT1 could be a promising anti-cancer target to against gastric cancer (PMID:23440515)
• Data suggest that SspH2 (ubiquitin ligase effector from Salmonella typhimurium) ubiquitination activity and protein stability is enhanced by SGT1. (PMID:23935490)
• Data (including data from studies using purified proteins/hepatocyte lysates) suggest eEF1A1/Sgt1a interact as multimer; D2/D3 domains of eEF1A1 and TPR domain of Sgt1 are involved in multimer formation; Sgt1 competes with viral RNA to bind to eEF1A. (PMID:26545799)
• Fusion of human SGT1 (hSGT1) to NOD1 LRR significantly enhanced the solubility, and the fusion protein was stabilized by coexpression of mouse Hsp90alpha. (PMID:27591899)
• Data suggest that PHLPP1 plays an important role in assembly of kinetochores by counteracting RNF41-mediated SGT1 degradation. (PHLPP1 = PH domain and leucine rich repeat protein phosphatase 1; RNF41 = ring finger protein 41; SGT1 = suppressor of G2 allele of SKP1) (PMID:28696259)
• the SGT1-HSP90 complex contributes to the E3 ligase activity of the CUL4A complex that is necessary for CENP-A ubiquitylation and CENP-A deposition at the centromere. (PMID:28816574)
• REVIEW: cellular function of S100A6 and its ligands, CacyBP/SIP and Sgt1 (PMID:30656909)
• SUGT1 controls susceptibility to HIV-1 infection by stabilizing microtubule plus-ends. (PMID:32514048)
• Sgt1 Regulates alpha-Synuclein Subcellular Localization and Expression of Parkinson’s Disease Related Genes, PINK1 and PARK9. (PMID:34827672)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	sugt1	ENSDARG00000100083
mus_musculus	Sugt1	ENSMUSG00000022024
rattus_norvegicus	Sugt1	ENSRNOG00000012594
drosophila_melanogaster	unc-45	FBGN0288846
caenorhabditis_elegans		WBGENE00006781

Paralogs (18): RPAP3 (ENSG00000005175), TOMM34 (ENSG00000025772), ST13 (ENSG00000100380), STUB1 (ENSG00000103266), SPAG1 (ENSG00000104450), SGTA (ENSG00000104969), TTC1 (ENSG00000113312), TTC31 (ENSG00000115282), UNC45A (ENSG00000140553), UNC45B (ENSG00000141161), SPATA16 (ENSG00000144962), TTC12 (ENSG00000149292), TOMM70 (ENSG00000154174), STIP1 (ENSG00000168439), TTC32 (ENSG00000183891), SGTB (ENSG00000197860), TTC4 (ENSG00000243725), DNAAF4 (ENSG00000256061)

Protein

Protein identifiers

Protein SGT1 homolog — Q9Y2Z0 (reviewed: Q9Y2Z0)

Alternative names: Protein 40-6-3, Sgt1, Suppressor of G2 allele of SKP1 homolog

All UniProt accessions (1): Q9Y2Z0

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in ubiquitination and subsequent proteasomal degradation of target proteins.

Subunit / interactions. Probably associates with SCF (SKP1-CUL1-F-box protein) complex through interaction with SKP1. Interacts with S100A6. Interacts with HSP90.

Subcellular location. Cytoplasm. Nucleus.

Post-translational modifications. Phosphorylated at Ser-281 and Ser-331, dephosphorylation promotes nuclear translocation, most likely due to disruption of the SUGT1-HSP90 complex.

Domain organisation. The CS domain mediates interaction with HSP90.

Similarity. Belongs to the SGT1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y2Z0-1	1, SGT1B, SUGT1B, SGT1.2	yes
Q9Y2Z0-2	2, SGT1A, SUGT1A

RefSeq proteins (3): NP_001124384, NP_001307760, NP_006695* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007052	CS_dom	Domain
IPR007699	SGS_dom	Domain
IPR008978	HSP20-like_chaperone	Homologous_superfamily
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR019734	TPR_rpt	Repeat
IPR044563	Sgt1-like	Family

Pfam: PF04969, PF05002, PF13432

UniProt features (28 total): strand 10, modified residue 5, repeat 3, cross-link 2, helix 2, domain 2, initiator methionine 1, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1RL1	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2Z0-F1	77.38	0.23

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 (7): 284, 331, 295, 295, 2, 265, 281

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

ID	Pathway
R-HSA-844456	The NLRP3 inflammasome
R-HSA-9660826	Purinergic signaling in leishmaniasis infection
R-HSA-1643685	Disease
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-168643	Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
R-HSA-5663205	Infectious disease
R-HSA-622312	Inflammasomes
R-HSA-9658195	Leishmania infection
R-HSA-9664424	Cell recruitment (pro-inflammatory response)
R-HSA-9824443	Parasitic Infection Pathways

MSigDB gene sets: 169 (showing top): GOBP_CHROMOSOME_ORGANIZATION, REACTOME_INNATE_IMMUNE_SYSTEM, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, REACTOME_THE_NLRP3_INFLAMMASOME, REACTOME_INFLAMMASOMES, REACTOME_NUCLEOTIDE_BINDING_DOMAIN_LEUCINE_RICH_REPEAT_CONTAINING_RECEPTOR_NLR_SIGNALING_PATHWAYS, ROVERSI_GLIOMA_COPY_NUMBER_UP, GOBP_MUSCLE_CELL_PROLIFERATION, TERAMOTO_OPN_TARGETS_CLUSTER_4, WANG_LMO4_TARGETS_DN, GOBP_ORGANELLE_ASSEMBLY, GOBP_REGULATION_OF_PROTEIN_STABILITY, GOBP_STRIATED_MUSCLE_CELL_PROLIFERATION, KEGG_NOD_LIKE_RECEPTOR_SIGNALING_PATHWAY, RASHI_RESPONSE_TO_IONIZING_RADIATION_6

GO Biological Process (4): spindle organization (GO:0007051), skeletal muscle satellite cell proliferation (GO:0014841), regulation of protein stability (GO:0031647), kinetochore assembly (GO:0051382)

GO Molecular Function (3): protein-folding chaperone binding (GO:0051087), lncRNA binding (GO:0106222), protein binding (GO:0005515)

GO Cellular Component (12): ubiquitin ligase complex (GO:0000151), kinetochore (GO:0000776), acrosomal vesicle (GO:0001669), centriole (GO:0005814), cytosol (GO:0005829), nuclear body (GO:0016604), protein-containing complex (GO:0032991), sperm midpiece (GO:0097225), sperm principal piece (GO:0097228), sperm end piece (GO:0097229), nucleus (GO:0005634), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
Inflammasomes	1
Cell recruitment (pro-inflammatory response)	1
Immune System	1
Innate Immune System	1
Disease	1
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways	1
Parasitic Infection Pathways	1
Leishmania infection	1
Infectious disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
intracellular membraneless organelle	3
sperm flagellum	3
microtubule cytoskeleton organization	1
cell cycle process	1
skeletal muscle cell proliferation	1
regulation of biological quality	1
kinetochore organization	1
protein-containing complex assembly	1
membraneless organelle assembly	1
protein binding	1
RNA binding	1
binding	1
intracellular protein-containing complex	1
transferase complex	1
condensed chromosome, centromeric region	1
supramolecular complex	1
secretory granule	1
microtubule organizing center	1
cytoplasm	1
nucleoplasm	1
cellular_component	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1876 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SUGT1	HSP90AA1	P07900	932
SUGT1	HSP90AB1	P08238	928
SUGT1	SKP1	P34991	926
SUGT1	AHSA1	O95433	560
SUGT1	PTGES3	Q15185	557
SUGT1	HSPA8	P11142	524
SUGT1	NOD2	Q9HC29	475
SUGT1	ITGB1BP2	Q9UKP3	470
SUGT1	SEL1L	Q9UBV2	466
SUGT1	NLRP3	Q96P20	458
SUGT1	CDC37	Q16543	452
SUGT1	ABCF2	Q9UG63	446
SUGT1	ECD	O95905	444
SUGT1	HSP90B1	P14625	434
SUGT1	KDM3A	Q9Y4C1	431

IntAct

244 interactions, top by confidence:

A	B	Type	Score
CEP97	CCP110	psi-mi:“MI:2364”(proximity)	0.950
PARD6A	PRKCI	psi-mi:“MI:0914”(association)	0.950
MED20	MED19	psi-mi:“MI:0914”(association)	0.840
HSP90AA1	HSP90AB1	psi-mi:“MI:0914”(association)	0.840
FBXL17	SKP1	psi-mi:“MI:0914”(association)	0.790
PHLPP2	NHERF1	psi-mi:“MI:0914”(association)	0.760
sspH2	SUGT1	psi-mi:“MI:0915”(physical association)	0.740
sspH2	SUGT1	psi-mi:“MI:0403”(colocalization)	0.740
SUGT1	sspH2	psi-mi:“MI:0915”(physical association)	0.740
HRAS	MTHFD2	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
HSP90AA1	CHUK	psi-mi:“MI:0914”(association)	0.670
CAMKV	AP3B1	psi-mi:“MI:0914”(association)	0.640
LRRC57	MACIR	psi-mi:“MI:0914”(association)	0.640
AKT1	HSP90AA1	psi-mi:“MI:0914”(association)	0.610
PPP5C	IRS4	psi-mi:“MI:0914”(association)	0.570
PHLPP1	USP12	psi-mi:“MI:0914”(association)	0.570
sspH2	BUB3	psi-mi:“MI:0914”(association)	0.560
SUGT1	NOD1	psi-mi:“MI:0915”(physical association)	0.560
NOD1	SUGT1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (426): SUGT1 (Biochemical Activity), SUGT1 (Affinity Capture-MS), SUGT1 (Affinity Capture-MS), SUGT1 (Affinity Capture-MS), SUGT1 (Affinity Capture-MS), SUGT1 (Affinity Capture-MS), SUGT1 (Affinity Capture-MS), SUGT1 (Affinity Capture-MS), SUGT1 (Affinity Capture-MS), SUGT1 (Affinity Capture-MS), SUGT1 (Affinity Capture-Western), CLIC4 (Co-fractionation), SUGT1 (Co-fractionation), SUGT1 (Co-fractionation), SUGT1 (Co-fractionation)

ESM2 similar proteins: A0A3L6DPG1, A4QVI3, A6IPG1, B0BN85, B4JXU2, B5XEX1, C0HBG1, C1BH56, C3YFB4, F4HQD4, O22785, O42766, O70251, P15705, P17624, P23231, P24534, P26446, P29412, P34826, P35189, Q08446, Q0JL44, Q11118, Q23280, Q2KIK0, Q3T168, Q43468, Q4R4P3, Q4SK88, Q4WTC0, Q5E983, Q5R6Z8, Q5RHR0, Q5ZIN1, Q6AYK6, Q6AZB3, Q6AZN0, Q7Q9C0, Q94BR4

Diamond homologs: A0A3L6DPG1, B0BN85, D3ZSP7, F8RP11, O13797, O59709, O88196, P15705, P53041, P53042, Q08446, Q0JL44, Q12118, Q2KIK0, Q2U919, Q388N2, Q43468, Q4WTC0, Q54IP0, Q55ED0, Q5R8D8, Q5U2X2, Q5WA76, Q5XEP2, Q5ZML4, Q60676, Q7T3F7, Q80ZK9, Q80ZX8, Q8BW49, Q8IZP2, Q8VWG7, Q93YR3, Q95LY5, Q99615, Q9CX34, Q9H892, Q9NES8, Q9QYI3, Q9STH1

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
PLK1	“up-regulates activity”	SUGT1	phosphorylation
SUGT1	“up-regulates activity”	“MIS12 complex”	binding
SUGT1	“up-regulates activity”	“Ndc80 complex”	relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 249 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
Attenuation phase	5	13.2×	6e-03
Negative regulation of the PI3K/AKT network	6	10.8×	6e-03
HSF1-dependent transactivation	5	10.2×	1e-02
Transcriptional Regulation by MECP2	5	10.2×	1e-02
HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand	7	8.7×	6e-03
Interleukin-1 signaling	8	6.4×	6e-03
Anchoring of the basal body to the plasma membrane	8	5.8×	7e-03
Infectious disease	18	2.9×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	6	10.3×	6e-03
protein autophosphorylation	11	7.3×	2e-04
protein folding	13	6.1×	2e-04
protein phosphorylation	13	4.0×	6e-03
intracellular signal transduction	23	4.0×	2e-05
protein stabilization	13	4.0×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2235 predictions. Top by Δscore:

Variant	Effect	Δscore
13:52652940:G:GT	donor_gain	1.0000
13:52652941:A:T	donor_gain	1.0000
13:52652954:CAGAG:C	donor_loss	1.0000
13:52652955:AGAGG:A	donor_loss	1.0000
13:52652956:G:GT	donor_gain	1.0000
13:52652956:GAG:G	donor_gain	1.0000
13:52652956:GAGG:G	donor_loss	1.0000
13:52652957:AGGTG:A	donor_loss	1.0000
13:52652958:GG:G	donor_loss	1.0000
13:52652959:G:T	donor_loss	1.0000
13:52652960:T:A	donor_loss	1.0000
13:52657573:G:GG	donor_gain	1.0000
13:52658393:A:AG	acceptor_gain	1.0000
13:52658395:A:AG	acceptor_gain	1.0000
13:52658396:C:G	acceptor_gain	1.0000
13:52658397:A:AC	acceptor_loss	1.0000
13:52658397:A:AG	acceptor_gain	1.0000
13:52658397:AGTT:A	acceptor_gain	1.0000
13:52658398:G:GT	acceptor_gain	1.0000
13:52658398:GTT:G	acceptor_gain	1.0000
13:52658398:GTTG:G	acceptor_gain	1.0000
13:52658467:GG:G	donor_gain	1.0000
13:52658468:GG:G	donor_gain	1.0000
13:52658506:GATA:G	donor_gain	1.0000
13:52659177:A:AG	acceptor_gain	1.0000
13:52659178:G:GG	acceptor_gain	1.0000
13:52659178:GA:G	acceptor_gain	1.0000
13:52659178:GAAT:G	acceptor_gain	1.0000
13:52659245:AGATA:A	donor_gain	1.0000
13:52659246:GATA:G	donor_gain	1.0000

AlphaMissense

2199 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:52680096:T:C	F313L	1.000
13:52680097:T:C	F313S	1.000
13:52680098:T:A	F313L	1.000
13:52680098:T:G	F313L	1.000
13:52680106:T:C	I316T	1.000
13:52680149:A:C	K330N	1.000
13:52680149:A:T	K330N	1.000
13:52680150:T:C	S331P	1.000
13:52680151:C:T	S331F	1.000
13:52687756:T:C	L340S	1.000
13:52687767:T:A	W344R	1.000
13:52687767:T:C	W344R	1.000
13:52687769:G:C	W344C	1.000
13:52687769:G:T	W344C	1.000
13:52676266:T:A	W254R	0.999
13:52676266:T:C	W254R	0.999
13:52680018:T:A	W287R	0.999
13:52680018:T:C	W287R	0.999
13:52680020:G:C	W287C	0.999
13:52680020:G:T	W287C	0.999
13:52680096:T:G	F313V	0.999
13:52680097:T:G	F313C	0.999
13:52680106:T:A	I316N	0.999
13:52680106:T:G	I316S	0.999
13:52680134:A:C	K325N	0.999
13:52680134:A:T	K325N	0.999
13:52680136:G:C	R326P	0.999
13:52680138:G:C	A327P	0.999
13:52680139:C:A	A327D	0.999
13:52680139:C:T	A327V	0.999

dbSNP variants (sampled 300 via entrez): RS1000028735 (13:52695465 G>T), RS1000034985 (13:52686423 A>C,G), RS1000061766 (13:52664326 C>G,T), RS1000083025 (13:52652315 G>A), RS1000090171 (13:52660846 G>A,T), RS1000207423 (13:52692108 T>A), RS1000366015 (13:52651850 C>G), RS1000451529 (13:52700016 C>T), RS1000478986 (13:52655713 G>T), RS1000485547 (13:52662749 A>G,T), RS1000491256 (13:52689582 G>A), RS1000685784 (13:52653194 G>A), RS1000768881 (13:52669457 A>G), RS1000795695 (13:52680340 G>A,T), RS1000959984 (13:52694587 T>C,G)

Disease associations

OMIM: gene MIM:604098 | 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): CHEMBL6066526 (SINGLE PROTEIN)

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — Kinetochore proteins

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
Notoginsenoside-Fa	Binding	4.34	pKd

ChEMBL bioactivities

2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.39	Kd	4080	nM	CHEMBL5653589
5.39	ED50	4080	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 4 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	2149526: Binding affinity to human SUGT1 incubated for 45 mins by Kinobead based pull down assay	kd	4.0796	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Air Pollutants	decreases expression, affects expression, increases abundance	2
Cyclosporine	increases expression	2
FR900359	decreases phosphorylation	1
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, increases reaction	1
cobaltous chloride	decreases expression	1
nickel sulfate	decreases expression, increases expression	1
beta-methylcholine	affects expression	1
K 7174	increases expression	1
2-amino-14,16-dimethyloctadecan-3-ol	decreases expression	1
bisphenol S	increases expression	1
PCI 5002	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Resveratrol	increases expression, affects cotreatment	1
Temozolomide	increases expression	1
Arsenic Trioxide	decreases expression	1
Adenosine Triphosphate	affects binding, increases reaction	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	decreases phosphorylation	1
Calcium	affects binding, increases reaction	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Ozone	affects expression, increases abundance	1
Plant Extracts	increases expression, affects cotreatment	1
Dronabinol	increases expression	1
Tobacco Smoke Pollution	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
CHEMBL5652568	Binding	Binding affinity to human SUGT1 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_B2HW	Abcam HeLa SUGT1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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