WBP1L

Summary

WBP1L (WW domain binding protein 1 like, HGNC:23510) is a protein-coding gene on chromosome 10q24.32, encoding WW domain binding protein 1-like (Q9NX94).

Predicted to enable ubiquitin protein ligase binding activity. Predicted to be involved in CXCL12-activated CXCR4 signaling pathway. Predicted to act upstream of or within hemopoiesis and positive regulation of protein ubiquitination. Predicted to be located in membrane.

Source: NCBI Gene 54838 — RefSeq curated summary.

At a glance

• GWAS associations: 40
• Clinical variants (ClinVar): 47 total
• MANE Select transcript: NM_001083913

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23510
Approved symbol	WBP1L
Name	WW domain binding protein 1 like
Location	10q24.32
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20154, OPAL1
Ensembl gene	ENSG00000166272
Ensembl biotype	protein_coding
OMIM	611129
Entrez	54838

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000369884, ENST00000369889, ENST00000448841, ENST00000647664, ENST00000863249

RefSeq mRNA: 2 — MANE Select: NM_001083913 NM_001083913, NM_017787

CCDS: CCDS44473, CCDS7540

Canonical transcript exons

ENST00000448841 — 4 exons

Exon	Start	End
ENSE00001101602	102809893	102810054
ENSE00001101614	102797993	102798095
ENSE00001451185	102812595	102816262
ENSE00003835582	102743948	102744143

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 98.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.3912 / max 265.8515, expressed in 1707 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
106756	2.3454	1310
106771	2.2361	1117
106762	1.8159	785
106763	1.3813	587
106761	0.7461	475
106757	0.3999	225
106769	0.1284	67
106760	0.1270	46
106765	0.1028	37
106766	0.0678	24

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	98.87	gold quality
right adrenal gland cortex	UBERON:0035827	96.56	gold quality
right adrenal gland	UBERON:0001233	96.54	gold quality
left adrenal gland cortex	UBERON:0035825	96.49	gold quality
left adrenal gland	UBERON:0001234	96.37	gold quality
adrenal cortex	UBERON:0001235	96.35	gold quality
adrenal gland	UBERON:0002369	95.82	gold quality
decidua	UBERON:0002450	95.81	gold quality
pericardium	UBERON:0002407	95.53	gold quality
amniotic fluid	UBERON:0000173	95.35	gold quality
medial globus pallidus	UBERON:0002477	94.63	gold quality
periodontal ligament	UBERON:0008266	94.56	gold quality
skin of hip	UBERON:0001554	94.42	gold quality
upper leg skin	UBERON:0004262	94.34	gold quality
synovial joint	UBERON:0002217	94.29	gold quality
mucosa of paranasal sinus	UBERON:0005030	94.13	gold quality
parietal pleura	UBERON:0002400	94.02	gold quality
adrenal tissue	UBERON:0018303	94.02	gold quality
right lobe of thyroid gland	UBERON:0001119	93.82	gold quality
layer of synovial tissue	UBERON:0007616	93.80	gold quality
tibialis anterior	UBERON:0001385	93.79	gold quality
left lobe of thyroid gland	UBERON:0001120	93.76	gold quality
thyroid gland	UBERON:0002046	93.76	gold quality
saphenous vein	UBERON:0007318	93.67	gold quality
mucosa of stomach	UBERON:0001199	93.54	gold quality
pleura	UBERON:0000977	93.40	gold quality
gastrocnemius	UBERON:0001388	93.40	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.38	gold quality
epithelium of nasopharynx	UBERON:0001951	93.07	gold quality
muscle of leg	UBERON:0001383	93.03	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	17.01

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

144 targeting WBP1L, 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-5011-5P	100.00	83.46	5820
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505

Literature-anchored findings (GeneRIF, showing 3)

• OPAL1 expression may not be an independent prognostic feature in childhood ALL, and its previously reported prognostic impact appears to be treatment dependent. (PMID:16709928)
• WBP1L SNP rs176185 may be associated with hypertension in the Chinese Han population. (PMID:30422892)
• Evaluation of the relationships of the WBP1L gene with schizophrenia and the general psychopathology scale based on a case-control study. (PMID:31840934)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	wbp1la	ENSDARG00000013245
danio_rerio	wbp1lb	ENSDARG00000029751
mus_musculus	Wbp1l	ENSMUSG00000047731
rattus_norvegicus	Wbp1l	ENSRNOG00000020020

Paralogs (2): PRR7 (ENSG00000131188), WBP1 (ENSG00000239779)

Protein

Protein identifiers

WW domain binding protein 1-like — Q9NX94 (reviewed: Q9NX94)

Alternative names: Outcome predictor in acute leukemia 1

All UniProt accessions (2): A0A3B3IU90, Q9NX94

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NX94-1	1	yes
Q9NX94-2	2

RefSeq proteins (2): NP_001077382, NP_060257 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021684	WBP1-like	Family
IPR051994	WW_domain-binding	Family

Pfam: PF11669

UniProt features (11 total): region of interest 2, compositionally biased region 2, sequence variant 2, chain 1, transmembrane region 1, sequence conflict 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NX94-F1	56.07	0.05

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): 173

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 233 (showing top): GOBP_RESPONSE_TO_PEPTIDE, GCANCTGNY_MYOD_Q6, TGACCTY_ERR1_Q2, FOXO4_01, FOXO1_01, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, ONKEN_UVEAL_MELANOMA_UP, HFH8_01, TGIF_01, ACATTCC_MIR1_MIR206, GENTILE_UV_HIGH_DOSE_DN, GENTILE_UV_RESPONSE_CLUSTER_D5, TGACATY_UNKNOWN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION

GO Biological Process (3): hemopoiesis (GO:0030097), positive regulation of protein ubiquitination (GO:0031398), CXCL12-activated CXCR4 signaling pathway (GO:0038160)

GO Molecular Function (2): ubiquitin protein ligase binding (GO:0031625), protein binding (GO:0005515)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell development	1
protein ubiquitination	1
regulation of protein ubiquitination	1
positive regulation of protein modification by small protein conjugation or removal	1
chemokine (C-X-C motif) ligand 12 signaling pathway	1
C-X-C chemokine receptor CXCR4 signaling pathway	1
ubiquitin-like protein ligase binding	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

510 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WBP1L	CSMD1	Q96PZ7	666
WBP1L	ZNF804A	Q7Z570	659
WBP1L	CYCS	P00001	617
WBP1L	BORCS7	Q96B45	574
WBP1L	CACNA1C	Q13936	573
WBP1L	AS3MT	Q9HBK9	541
WBP1L	NT5C2	P49902	540
WBP1L	HIGD1A	Q9Y241	507
WBP1L	RLF	Q13129	498
WBP1L	POU2AF3	A8K830	490
WBP1L	OMA1	Q96E52	480
WBP1L	CNNM2	Q9H8M5	463
WBP1L	NAA25	Q14CX7	441
WBP1L	SCAMP2	O15127	441
WBP1L	CALHM2	Q9HA72	440

IntAct

67 interactions, top by confidence:

A	B	Type	Score
WBP1L	SGTA	psi-mi:“MI:0915”(physical association)	0.560
EPN2	WBP1L	psi-mi:“MI:0915”(physical association)	0.560
ABHD16A	WBP1L	psi-mi:“MI:0915”(physical association)	0.560
CASP6	WBP1L	psi-mi:“MI:0915”(physical association)	0.560
CCK	WBP1L	psi-mi:“MI:0915”(physical association)	0.560
CRYAA	WBP1L	psi-mi:“MI:0915”(physical association)	0.560
DYNC1H1	WBP1L	psi-mi:“MI:0915”(physical association)	0.560
WBP1L	EIF2S3	psi-mi:“MI:0915”(physical association)	0.560
WBP1L	ERN1	psi-mi:“MI:0915”(physical association)	0.560
WBP1L	FGFR3	psi-mi:“MI:0915”(physical association)	0.560
WBP1L	FKBP1A	psi-mi:“MI:0915”(physical association)	0.560
WBP1L	FLNA	psi-mi:“MI:0915”(physical association)	0.560
GRIN2C	WBP1L	psi-mi:“MI:0915”(physical association)	0.560
WBP1L	GSN	psi-mi:“MI:0915”(physical association)	0.560
HSPA2	WBP1L	psi-mi:“MI:0915”(physical association)	0.560
LAMP2	WBP1L	psi-mi:“MI:0915”(physical association)	0.560
RAN	WBP1L	psi-mi:“MI:0915”(physical association)	0.560
WBP1L	SARS1	psi-mi:“MI:0915”(physical association)	0.560
WBP1L		psi-mi:“MI:0915”(physical association)	0.560
UBQLN1	WBP1L	psi-mi:“MI:0915”(physical association)	0.560
PIAS4	WBP1L	psi-mi:“MI:0915”(physical association)	0.560
PRPF40A	WBP1L	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (11): WBP1L (Two-hybrid), WBP1L (Affinity Capture-RNA), WBP1L (Two-hybrid), ABHD16A (Two-hybrid), WBP1L (Negative Genetic), WBP1L (Affinity Capture-RNA), WBP1L (Proximity Label-MS), WBP1L (Affinity Capture-MS), WBP1L (Affinity Capture-MS), WBP1L (Affinity Capture-RNA), WBP1L (Two-hybrid)

ESM2 similar proteins: A0A0U1RQ45, A0A1B0GWB2, A2A9T0, A6QPA0, A7MCY6, D3ZFB6, E9PUL5, E9Q0B3, F5GYI3, F5H4A9, J3QNX5, O70142, P0C1G7, P81408, P97764, P98077, Q148V8, Q15654, Q2KI80, Q3SX26, Q3SZL6, Q4V9L6, Q5FVJ4, Q5FW56, Q5RAC1, Q5T7N3, Q6DG50, Q6PAJ3, Q6PJ61, Q6ZMQ8, Q6ZNR0, Q6ZRV2, Q75VX8, Q7Z6L0, Q86UK7, Q86VE0, Q8BGW2, Q8BRJ3, Q8BX43, Q8C0R7

Diamond homologs: P0C1G7, P97764, Q8BGW2, Q96G27, Q9NX94

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1621 predictions. Top by Δscore:

Variant	Effect	Δscore
10:102798091:CTGGT:C	donor_gain	1.0000
10:102798092:TGGT:T	donor_gain	1.0000
10:102798093:GGTG:G	donor_gain	1.0000
10:102798094:GT:G	donor_gain	1.0000
10:102798096:G:GG	donor_gain	1.0000
10:102809887:CCCCA:C	acceptor_loss	1.0000
10:102809888:CCCA:C	acceptor_loss	1.0000
10:102809889:CCA:C	acceptor_loss	1.0000
10:102809890:CAG:C	acceptor_loss	1.0000
10:102809891:A:AG	acceptor_gain	1.0000
10:102809891:AG:A	acceptor_gain	1.0000
10:102809891:AGG:A	acceptor_gain	1.0000
10:102809892:G:GT	acceptor_gain	1.0000
10:102809892:G:T	acceptor_loss	1.0000
10:102809892:GG:G	acceptor_gain	1.0000
10:102809892:GGG:G	acceptor_gain	1.0000
10:102809892:GGGTT:G	acceptor_gain	1.0000
10:102810050:TTTCA:T	donor_gain	1.0000
10:102810055:G:GG	donor_gain	1.0000
10:102831610:TG:T	acceptor_gain	1.0000
10:102831618:C:CT	acceptor_gain	1.0000
10:102831618:C:T	acceptor_gain	1.0000
10:102831622:G:GC	acceptor_gain	1.0000
10:102797987:TTTTA:T	acceptor_loss	0.9900
10:102797989:TTA:T	acceptor_loss	0.9900
10:102797990:TAGG:T	acceptor_loss	0.9900
10:102797991:A:AG	acceptor_gain	0.9900
10:102797991:A:C	acceptor_loss	0.9900
10:102797991:AG:A	acceptor_gain	0.9900
10:102797992:G:A	acceptor_loss	0.9900

AlphaMissense

2380 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:102809928:A:C	S56R	1.000
10:102809930:C:A	S56R	1.000
10:102809930:C:G	S56R	1.000
10:102798035:T:A	C24S	0.999
10:102798035:T:C	C24R	0.999
10:102798036:G:A	C24Y	0.999
10:102798036:G:C	C24S	0.999
10:102798092:T:A	W43R	0.999
10:102798092:T:C	W43R	0.999
10:102809895:T:C	F45L	0.999
10:102809897:C:A	F45L	0.999
10:102809897:C:G	F45L	0.999
10:102809898:T:A	W46R	0.999
10:102809898:T:C	W46R	0.999
10:102809907:T:A	W49R	0.999
10:102809907:T:C	W49R	0.999
10:102809998:T:C	I79T	0.999
10:102809998:T:G	I79S	0.999
10:102810004:T:C	L81P	0.999
10:102810010:C:A	A83D	0.999
10:102798036:G:T	C24F	0.998
10:102798037:T:G	C24W	0.998
10:102798050:T:A	C29S	0.998
10:102798051:G:C	C29S	0.998
10:102798054:G:A	C30Y	0.998
10:102798068:T:A	C35S	0.998
10:102798069:G:C	C35S	0.998
10:102798072:G:A	C36Y	0.998
10:102798090:T:C	L42P	0.998
10:102798095:T:A	W44R	0.998

dbSNP variants (sampled 300 via entrez): RS1000017951 (10:102757678 G>A,T), RS1000074720 (10:102778616 C>G), RS1000109180 (10:102744627 A>G), RS1000109449 (10:102754981 G>A), RS1000158199 (10:102809147 G>A,T), RS1000189878 (10:102764118 C>G), RS1000328090 (10:102758101 T>G), RS1000337656 (10:102803631 G>A,T), RS1000343254 (10:102795430 C>T), RS1000356206 (10:102772406 AT>A), RS1000425370 (10:102778120 A>G), RS1000447498 (10:102809986 G>A), RS1000538196 (10:102784576 C>T), RS1000572279 (10:102808912 G>T), RS1000621612 (10:102796998 A>G)

Disease associations

OMIM: gene MIM:611129 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

40 associations (top):

Study	Trait	p-value
GCST001942_1	Prostate cancer	5.000000e-10
GCST002149_2	Schizophrenia	4.000000e-13
GCST002539_4	Schizophrenia	6.000000e-19
GCST004162_16	Carotid plaque burden	2.000000e-08
GCST004162_17	Carotid plaque burden	5.000000e-07
GCST004257_2	Systolic blood pressure (long-term average)	1.000000e-11
GCST004258_1	Diastolic blood pressure (long-term average)	2.000000e-08
GCST004259_2	Mean arterial pressure (long-term average)	5.000000e-11
GCST004521_172	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_53	Autism spectrum disorder or schizophrenia	9.000000e-10
GCST004521_78	Autism spectrum disorder or schizophrenia	1.000000e-16
GCST004625_109	Monocyte count	6.000000e-11
GCST004946_86	Schizophrenia	4.000000e-20
GCST005956_50	Waist-to-hip ratio adjusted for BMI	8.000000e-06
GCST005958_15	Waist-to-hip ratio adjusted for BMI (age >50)	4.000000e-06
GCST005962_36	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	6.000000e-07
GCST006030_5	Chloride levels	3.000000e-10
GCST006032_5	Sodium levels	6.000000e-15
GCST006803_4	Schizophrenia	7.000000e-18
GCST007703_137	Systolic blood pressure	4.000000e-11
GCST007705_49	Pulse pressure	7.000000e-12
GCST007706_130	Mean arterial pressure	7.000000e-07
GCST007707_72	Hypertension	5.000000e-06
GCST007876_60	Estimated glomerular filtration rate	1.000000e-09
GCST008058_107	Estimated glomerular filtration rate	4.000000e-18
GCST008059_27	Estimated glomerular filtration rate	5.000000e-15
GCST008129_69	Body mass index	9.000000e-09
GCST010043_17	Asthma	5.000000e-08
GCST010083_242	Hemoglobin levels	1.000000e-08
GCST010479_16	Coronary artery disease	9.000000e-10

EFO canonical traits (21, from GWAS)

EFO ID	Trait name
EFO:0006501	carotid plaque build
EFO:0006335	systolic blood pressure
EFO:0006336	diastolic blood pressure
EFO:0006340	mean arterial pressure
EFO:0005091	monocyte count
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0009282	sodium measurement
EFO:0005763	pulse pressure measurement
EFO:0004340	body mass index
EFO:0004509	hemoglobin measurement
EFO:0004346	neuroimaging measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0004530	triglyceride measurement
EFO:0005658	response to selective serotonin reuptake inhibitor
EFO:0004348	hematocrit
EFO:0007989	monocyte percentage of leukocytes
EFO:0004305	erythrocyte count
EFO:0004533	alkaline phosphatase measurement
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects acetylation, affects methylation, affects cotreatment, decreases expression, increases abundance	2
Benzo(a)pyrene	increases expression, increases methylation	2
Tetrachlorodibenzodioxin	increases expression	2
FR900359	increases phosphorylation	1
bisphenol A	affects cotreatment, increases methylation	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
monomethylarsonous acid	affects acetylation, affects methylation	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Caffeine	increases phosphorylation	1
Calcitriol	increases expression, affects cotreatment	1
Lead	affects expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Methylcholanthrene	affects binding, increases reaction	1
Quercetin	increases expression	1
Testosterone	affects cotreatment, increases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	decreases expression	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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