WDSUB1

Summary

WDSUB1 (WD repeat, sterile alpha motif and U-box domain containing 1, HGNC:26697) is a protein-coding gene on chromosome 2q24.2, encoding WD repeat, SAM and U-box domain-containing protein 1 (Q8N9V3).

Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in protein ubiquitination.

Source: NCBI Gene 151525 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 87 total
• MANE Select transcript: NM_001128212

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26697
Approved symbol	WDSUB1
Name	WD repeat, sterile alpha motif and U-box domain containing 1
Location	2q24.2
Locus type	gene with protein product
Status	Approved
Aliases	UBOX6, FLJ36175
Ensembl gene	ENSG00000196151
Ensembl biotype	protein_coding
OMIM	620802
Entrez	151525

Gene structure

Transcript identifiers

Ensembl transcripts: 34 — 34 protein_coding

ENST00000358147, ENST00000359774, ENST00000392796, ENST00000409124, ENST00000409990, ENST00000851150, ENST00000851151, ENST00000851152, ENST00000851153, ENST00000851154, ENST00000851155, ENST00000851156, ENST00000851157, ENST00000851158, ENST00000851159, ENST00000936433, ENST00000936434, ENST00000936435, ENST00000936436, ENST00000936437, ENST00000936438, ENST00000936439, ENST00000936440, ENST00000936441, ENST00000969538, ENST00000969539, ENST00000969540, ENST00000969541, ENST00000969542, ENST00000969543, ENST00000969544, ENST00000969545, ENST00000969546, ENST00000969547

RefSeq mRNA: 10 — MANE Select: NM_001128212 NM_001128212, NM_001128213, NM_001307994, NM_001330274, NM_001330276, NM_001330277, NM_001330278, NM_001330279, NM_001330280, NM_152528

CCDS: CCDS2208, CCDS77477, CCDS82525

Canonical transcript exons

ENST00000359774 — 11 exons

Exon	Start	End
ENSE00001364826	159275546	159275638
ENSE00001367127	159282672	159283093
ENSE00001376562	159279761	159279945
ENSE00001379417	159248372	159248512
ENSE00001389205	159256196	159256375
ENSE00001413602	159257758	159257864
ENSE00001415401	159259810	159259843
ENSE00001415893	159257945	159257985
ENSE00001417234	159271702	159271795
ENSE00001467560	159286583	159286703
ENSE00001866175	159235798	159236190

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 91.27.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.8225 / max 59.5857, expressed in 1712 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
31428	5.4156	1671
31427	0.6566	391
31429	0.2904	128
31426	0.2411	139
31425	0.2188	140

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.27	gold quality
oviduct epithelium	UBERON:0004804	89.68	gold quality
secondary oocyte	CL:0000655	89.37	gold quality
pigmented layer of retina	UBERON:0001782	89.13	gold quality
bronchial epithelial cell	CL:0002328	87.69	gold quality
bronchus	UBERON:0002185	86.89	gold quality
oocyte	CL:0000023	86.61	gold quality
buccal mucosa cell	CL:0002336	86.60	silver quality
parotid gland	UBERON:0001831	86.20	gold quality
renal medulla	UBERON:0000362	86.17	gold quality
palpebral conjunctiva	UBERON:0001812	86.17	gold quality
placenta	UBERON:0001987	85.89	gold quality
corpus epididymis	UBERON:0004359	85.80	gold quality
metanephros	UBERON:0000081	84.75	gold quality
adult mammalian kidney	UBERON:0000082	84.75	gold quality
amniotic fluid	UBERON:0000173	84.75	gold quality
kidney epithelium	UBERON:0004819	84.25	gold quality
kidney	UBERON:0002113	84.22	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.21	gold quality
monocyte	CL:0000576	84.19	gold quality
leukocyte	CL:0000738	84.01	gold quality
upper leg skin	UBERON:0004262	83.70	gold quality
endometrium	UBERON:0001295	83.58	gold quality
cortex of kidney	UBERON:0001225	83.50	gold quality
metanephros cortex	UBERON:0010533	83.43	gold quality
right adrenal gland	UBERON:0001233	83.35	gold quality
germinal epithelium of ovary	UBERON:0001304	83.31	gold quality
islet of Langerhans	UBERON:0000006	83.23	gold quality
right adrenal gland cortex	UBERON:0035827	82.95	gold quality
ovary	UBERON:0000992	82.84	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.49

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting WDSUB1, 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-5692A	100.00	74.40	6850
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-19A-5P	99.36	66.93	1675
HSA-MIR-19B-1-5P	99.36	67.07	1669
HSA-MIR-19B-2-5P	99.36	67.07	1669
HSA-MIR-548L	99.06	70.90	2560
HSA-MIR-382-3P	98.83	67.10	1074
HSA-MIR-654-3P	98.38	67.61	905
HSA-MIR-3920	97.75	69.02	1168

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	wdsub1	ENSDARG00000090418
mus_musculus	Wdsub1	ENSMUSG00000026988
rattus_norvegicus	Wdsub1	ENSRNOG00000005990

Protein

Protein identifiers

WD repeat, SAM and U-box domain-containing protein 1 — Q8N9V3 (reviewed: Q8N9V3)

All UniProt accessions (2): B8ZZF2, Q8N9V3

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N9V3-1	1	yes
Q8N9V3-2	2

RefSeq proteins (10): NP_001121684, NP_001121685, NP_001294923, NP_001317203, NP_001317205, NP_001317206, NP_001317207, NP_001317208, NP_001317209, NP_689741 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001660	SAM	Domain
IPR001680	WD40_rpt	Repeat
IPR003613	Ubox_domain	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR013761	SAM/pointed_sf	Homologous_superfamily
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR020472	WD40_PAC1	Repeat
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR052085	WD-SAM-U-box	Family

Pfam: PF00400, PF04564, PF07647

UniProt features (15 total): repeat 7, sequence variant 3, domain 2, chain 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N9V3-F1	88.64	0.59

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 (1): 458

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 89 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, chr2q24, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_AMINOACYLTRANSFERASE_ACTIVITY, HOFFMANN_LARGE_TO_SMALL_PRE_BII_LYMPHOCYTE_DN, CHYLA_CBFA2T3_TARGETS_DN, BRUINS_UVC_RESPONSE_EARLY_LATE, DIDO1_TARGET_GENES, FOXG1_TARGET_GENES, GLI3_TARGET_GENES, NFE2L1_TARGET_GENES

GO Biological Process (1): protein ubiquitination (GO:0016567)

GO Molecular Function (2): ubiquitin-protein transferase activity (GO:0004842), protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein modification by small protein conjugation	1
ubiquitin-like protein transferase activity	1
binding	1

Protein interactions and networks

STRING

818 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WDSUB1	TANC1	Q9C0D5	592
WDSUB1	BTBD2	Q9BX70	539
WDSUB1	BAZ2B	Q9UIF8	475
WDSUB1	PDIK1L	Q8N165	446
WDSUB1	LRRC31	Q6UY01	402
WDSUB1	DNAJC7	Q99615	402
WDSUB1	UBE4A	Q14139	399
WDSUB1	UBOX5	O94941	386
WDSUB1	GALNT5	Q7Z7M9	362
WDSUB1	TEKT5	Q96M29	358
WDSUB1	IGFL2	Q6UWQ7	353
WDSUB1	TREH	O43280	351
WDSUB1	ADSL	P30566	351
WDSUB1	FASN	P49327	350
WDSUB1	DNAJC28	Q9NX36	350

IntAct

0 interactions, top by confidence:

BioGRID (5): WDSUB1 (Affinity Capture-MS), WDSUB1 (Co-fractionation), WDSUB1 (Affinity Capture-MS), WDSUB1 (Affinity Capture-RNA), WDSUB1 (Biochemical Activity)

ESM2 similar proteins: A0AUS0, A8XXC7, B3RQN1, B6K7R8, C5DF48, E9Q4P1, F4INY4, G5EEG7, O74453, O94394, P38123, P62883, P62884, Q18964, Q25306, Q2KIY3, Q2TAY7, Q2TBS9, Q38SD2, Q3EBD3, Q3MKM6, Q3UHC2, Q3UKJ7, Q5FVN8, Q5JTN6, Q5ZMC3, Q5ZME8, Q67UX0, Q6C953, Q6NRT3, Q6TNS2, Q76B40, Q7ZVA0, Q8BUB4, Q8H594, Q8IWB7, Q8N9V3, Q8SRB0, Q8W117, Q91WQ5

Diamond homologs: A0AUS0, A1CJY4, A1D7I5, A2ZLU6, B0XAF3, B0XYC8, B8M0Q1, C6L7U1, D1FP53, D1FP57, D3ZUM2, E4NKF8, G1SJB4, G4MQX3, I3L5V6, O22193, O23225, O42248, O48700, O48847, O74653, O80742, O81902, P0C6E7, P38129, P63243, P63244, P63245, P63246, P63247, P68040, Q058P4, Q09715, Q0DR28, Q0IMG9, Q0WUF6, Q10FT0, Q10PI9, Q3E9F5, Q3E9F7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	WDSUB1	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	53
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1949 predictions. Top by Δscore:

Variant	Effect	Δscore
2:159248367:CATA:C	donor_loss	1.0000
2:159248368:ATACC:A	donor_loss	1.0000
2:159248369:TACCT:T	donor_loss	1.0000
2:159248370:A:T	donor_loss	1.0000
2:159248371:C:CA	donor_loss	1.0000
2:159248513:C:CC	acceptor_gain	1.0000
2:159256222:T:A	donor_gain	1.0000
2:159256371:CCT:C	acceptor_gain	1.0000
2:159256372:CTTG:C	acceptor_gain	1.0000
2:159256373:TTG:T	acceptor_gain	1.0000
2:159256374:TG:T	acceptor_gain	1.0000
2:159256376:C:CC	acceptor_gain	1.0000
2:159256377:T:C	acceptor_gain	1.0000
2:159256377:T:TC	acceptor_gain	1.0000
2:159279943:CAT:C	acceptor_gain	1.0000
2:159236187:CCAT:C	acceptor_gain	0.9900
2:159236188:CAT:C	acceptor_gain	0.9900
2:159236188:CATC:C	acceptor_gain	0.9900
2:159236189:ATCT:A	acceptor_loss	0.9900
2:159236190:TCT:T	acceptor_loss	0.9900
2:159236191:C:CC	acceptor_gain	0.9900
2:159236191:CTAA:C	acceptor_loss	0.9900
2:159236192:T:C	acceptor_loss	0.9900
2:159248370:A:AC	donor_gain	0.9900
2:159248371:C:CC	donor_gain	0.9900
2:159248509:GATT:G	acceptor_gain	0.9900
2:159248510:ATT:A	acceptor_gain	0.9900
2:159248511:TT:T	acceptor_gain	0.9900
2:159248511:TTC:T	acceptor_loss	0.9900
2:159256189:AGCTT:A	donor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000004631 (2:159285263 A>G), RS1000051223 (2:159287753 T>G), RS1000127099 (2:159243305 C>T), RS1000148310 (2:159236044 G>A), RS1000217740 (2:159275076 T>C,G), RS1000275288 (2:159236829 C>T), RS1000287187 (2:159281870 G>A,C,T), RS1000316824 (2:159275172 C>T), RS1000336162 (2:159261521 T>C), RS1000497662 (2:159243727 T>C), RS1000512778 (2:159276708 C>T), RS1000568161 (2:159254658 G>A), RS1000606132 (2:159238713 G>A,C), RS1000826983 (2:159263679 A>C), RS1000828681 (2:159241511 G>A)

Disease associations

OMIM: gene MIM:620802 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST003542_72	Night sleep phenotypes	3.000000e-07
GCST007277_3	Tourette syndrome	2.000000e-07
GCST009216_2	Corpus callosum central volume	8.000000e-06
GCST009391_880	Metabolite levels	3.000000e-06
GCST012145_1	Ferritin levels	9.000000e-07
GCST012145_17	Ferritin levels	2.000000e-09
GCST90002397_819	Mean spheric corpuscular volume	6.000000e-17
GCST90002404_25	Red cell distribution width	2.000000e-10
GCST90002405_139	Reticulocyte count	7.000000e-09

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007827	nighttime rest measurement
EFO:0010437	triacylglycerol 58:10 measurement
EFO:0004459	ferritin measurement
EFO:0009188	Red cell distribution width
EFO:0007986	reticulocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	5
Air Pollutants	increases expression, decreases expression, affects cotreatment, increases abundance	3
Tetrachlorodibenzodioxin	increases expression, decreases expression	3
methylmercuric chloride	decreases expression	2
sodium arsenite	decreases expression	2
methacrylaldehyde	increases abundance, affects cotreatment, increases expression	2
Acrolein	affects cotreatment, increases expression, increases abundance	2
Ozone	affects cotreatment, increases expression, increases abundance	2
Particulate Matter	increases abundance, increases expression, decreases expression	2
alpha phellandrene	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
2,2’,4,4’,5-brominated diphenyl ether	increases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
Temozolomide	decreases expression	1
Decitabine	affects expression	1
Sunitinib	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cadmium	increases expression	1
Calcitriol	increases expression	1
Cisplatin	affects expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Nickel	decreases expression	1

Clinical trials (associated diseases)

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