PATE1

Summary

PATE1 (prostate and testis expressed 1, HGNC:24664) is a protein-coding gene on chromosome 11q24.2, encoding Prostate and testis expressed protein 1 (Q8WXA2).

Predicted to enable acetylcholine receptor regulator activity. Predicted to be located in extracellular region.

Source: NCBI Gene 160065 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 22 total
• MANE Select transcript: NM_138294

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24664
Approved symbol	PATE1
Name	prostate and testis expressed 1
Location	11q24.2
Locus type	gene with protein product
Status	Approved
Aliases	PATE
Ensembl gene	ENSG00000171053
Ensembl biotype	protein_coding
OMIM	606861
Entrez	160065

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron

ENST00000305738, ENST00000437148, ENST00000525969

RefSeq mRNA: 1 — MANE Select: NM_138294 NM_138294

CCDS: CCDS8464

Canonical transcript exons

ENST00000305738 — 5 exons

Exon	Start	End
ENSE00001124784	125747700	125747822
ENSE00001124789	125747376	125747411
ENSE00001168149	125746661	125746696
ENSE00001301759	125748600	125749867
ENSE00002161048	125746279	125746356

Expression profiles

Bgee: expression breadth broad, 23 present calls, max score 99.84.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 6.1280 / max 6775.9270, expressed in 9 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
117463	6.1091	9
117464	0.0189	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus epididymis	UBERON:0004359	99.84	gold quality
seminal vesicle	UBERON:0000998	99.54	gold quality
cauda epididymis	UBERON:0004360	99.03	gold quality
sperm	CL:0000019	93.91	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.66	gold quality
upper arm skin	UBERON:0004263	75.95	gold quality
buccal mucosa cell	CL:0002336	73.66	silver quality
caput epididymis	UBERON:0004358	70.14	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	69.36	gold quality
epithelial cell of pancreas	CL:0000083	68.72	gold quality
vena cava	UBERON:0004087	66.76	silver quality
kidney epithelium	UBERON:0004819	66.32	gold quality
cerebellar vermis	UBERON:0004720	66.00	gold quality
nasal cavity epithelium	UBERON:0005384	64.69	gold quality
cardiac muscle of right atrium	UBERON:0003379	64.54	gold quality
left ventricle myocardium	UBERON:0006566	64.09	gold quality
myocardium	UBERON:0002349	63.82	gold quality
gingival epithelium	UBERON:0001949	63.41	gold quality
layer of synovial tissue	UBERON:0007616	62.33	silver quality
nipple	UBERON:0002030	62.14	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	62.13	gold quality
thymus	UBERON:0002370	61.64	silver quality
saphenous vein	UBERON:0007318	61.56	gold quality
cardia of stomach	UBERON:0001162	61.53	gold quality
superior surface of tongue	UBERON:0007371	61.51	gold quality
pericardium	UBERON:0002407	61.43	gold quality
inferior vagus X ganglion	UBERON:0005363	61.26	gold quality
synovial joint	UBERON:0002217	61.24	gold quality
pharyngeal mucosa	UBERON:0000355	61.22	gold quality
body of tongue	UBERON:0011876	61.19	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

67 targeting PATE1, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-374A-5P	99.90	71.34	2923

Literature-anchored findings (GeneRIF, showing 5)

• analysis of PATE, expressed primarily in prostate and less in testis, and additional PATE-like genes PATE-M, PATE-DJ, and PATE-B (PMID:18387948)
• PATE proteins are involved in sperm-oolemma fusion and penetration but not sperm-zona binding. (PMID:22402205)
• PATE1 has a role in sperm-egg penetration and sperm motility (PMID:25637620)
• these results show that PATE1 variant (A1423G) is probably one of the high risk genetic factors for idiopathic asthenozoospermia among males in China (PMID:27636828)
• CRISP2, CATSPER1 and PATE1 Expression in Human Asthenozoospermic Semen. (PMID:34440724)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Pate1	ENSMUSG00000091215
rattus_norvegicus	Pate1	ENSRNOG00000049600

Paralogs (4): ACRV1 (ENSG00000134940), PATE2 (ENSG00000196844), PATE3 (ENSG00000236027), PATE4 (ENSG00000237353)

Protein

Protein identifiers

Prostate and testis expressed protein 1 — Q8WXA2 (reviewed: Q8WXA2)

All UniProt accessions (1): Q8WXA2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Tissue specificity. Expressed specifically in prostate cancer, normal prostate, and testis. Expressed in the epithelial cells of the prostate cancer and normal prostate tissues.

Similarity. Belongs to the PATE family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8WXA2-1	1	yes
Q8WXA2-2	2

RefSeq proteins (1): NP_612151* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016054	LY6_UPA_recep-like	Domain

Pfam: PF00021

UniProt features (10 total): disulfide bond 4, sequence variant 2, signal peptide 1, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WXA2-F1	80.46	0.64

Functional residue map

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

Disulfide bonds (4): 48–75, 51–60, 67–94, 98–115

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 21 (showing top): CTAWWWATA_RSRFC4_Q2, chr11q24, GOMF_SIGNALING_RECEPTOR_REGULATOR_ACTIVITY, GOMF_NEUROTRANSMITTER_RECEPTOR_REGULATOR_ACTIVITY, MIR6867_5P, MIR4795_3P, MIR126_5P, MIR6833_3P, MIR5692B_MIR5692C, MIR4768_5P, MIR3182, MIR3160_5P, GSE10463_CD40L_AND_VA347_VS_CD40L_IN_DC_DN, MIR500B_3P, MIR3198

GO Biological Process (0):

GO Molecular Function (2): acetylcholine receptor regulator activity (GO:0030548), protein binding (GO:0005515)

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
acetylcholine receptor activity	1
neurotransmitter receptor regulator activity	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

302 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PATE1	PATE3	B3GLJ2	797
PATE1	PATE2	Q6UY27	758
PATE1	PATE4	P0C8F1	696
PATE1	LY6L	H3BQJ8	668
PATE1	PINLYP	A6NC86	620
PATE1	LYPD5	Q6UWN5	583
PATE1	GLB1L3	Q8NCI6	574
PATE1	LY6G5B	Q8NDX9	571
PATE1	CRISP2	P16562	562
PATE1	LYPD4	Q6UWN0	558
PATE1	WFDC8	Q8IUA0	547
PATE1	GLB1L2	Q8IW92	543
PATE1	SPACA4	Q8TDM5	542
PATE1	CRISP1	P54107	522
PATE1	LY6G6F	Q5SQ64	522

IntAct

16 interactions, top by confidence:

A	B	Type	Score
TCF4	PATE1	psi-mi:“MI:0915”(physical association)	0.560
REL	PATE1	psi-mi:“MI:0915”(physical association)	0.560
PATE1	INCA1	psi-mi:“MI:0915”(physical association)	0.560
SERTAD1	PATE1	psi-mi:“MI:0915”(physical association)	0.560
PATE1	REL	psi-mi:“MI:0915”(physical association)	0.560
INCA1	PATE1	psi-mi:“MI:0915”(physical association)	0.560
PATE1	SERTAD1	psi-mi:“MI:0915”(physical association)	0.560
TEX101	MAP4K4	psi-mi:“MI:0914”(association)	0.350
PATE1	MANBA	psi-mi:“MI:0914”(association)	0.350
PATE1	AGRN	psi-mi:“MI:0914”(association)	0.350

BioGRID (49): PATE1 (Two-hybrid), PATE1 (Two-hybrid), PATE1 (Two-hybrid), INCA1 (Two-hybrid), PATE1 (Affinity Capture-MS), TCF4 (Two-hybrid), CPE (Affinity Capture-MS), SCARB1 (Affinity Capture-MS), HLA-B (Affinity Capture-MS), PLXNB2 (Affinity Capture-MS), M6PR (Affinity Capture-MS), INSR (Affinity Capture-MS), CTSF (Affinity Capture-MS), TUBB8 (Affinity Capture-MS), SMOC1 (Affinity Capture-MS)

ESM2 similar proteins: A6NCL2, D3ZTT2, O19131, O46655, O70280, P01177, P01178, P01179, P01180, P01183, P01185, P01186, P03973, P13389, P19438, P22298, P22934, P25118, P35454, P35455, P50555, P58658, P58659, Q02509, Q14AE4, Q32LD3, Q3URS3, Q5T700, Q68US5, Q6UWE3, Q6UWL2, Q6V9X0, Q6WN34, Q76LW6, Q86Y78, Q8BPP5, Q8BVP6, Q8N6Q3, Q8VEA6, Q8WXA2

Diamond homologs: B3GLJ2, B3GLJ3, P50289, P53353, Q8WXA2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

621 predictions. Top by Δscore:

Variant	Effect	Δscore
11:125747692:T:TA	acceptor_gain	1.0000
11:125747369:A:AG	acceptor_gain	0.9900
11:125747370:G:GG	acceptor_gain	0.9900
11:125747370:GTACA:G	acceptor_gain	0.9900
11:125747693:G:A	acceptor_gain	0.9900
11:125747697:AAGT:A	acceptor_gain	0.9900
11:125747698:A:G	acceptor_gain	0.9900
11:125747823:G:GG	donor_gain	0.9900
11:125747805:TTGG:T	donor_gain	0.9800
11:125747812:G:GT	donor_gain	0.9800
11:125746354:GGG:G	donor_gain	0.9700
11:125746355:GGG:G	donor_gain	0.9700
11:125747697:A:AG	acceptor_gain	0.9700
11:125747699:G:GG	acceptor_gain	0.9700
11:125748598:AG:A	acceptor_gain	0.9700
11:125748598:AGG:A	acceptor_gain	0.9700
11:125748598:AGGG:A	acceptor_gain	0.9700
11:125748599:GG:G	acceptor_gain	0.9700
11:125748599:GGG:G	acceptor_gain	0.9700
11:125748599:GGGG:G	acceptor_gain	0.9700
11:125747819:AAAAG:A	donor_loss	0.9600
11:125747820:AAAG:A	donor_loss	0.9600
11:125747821:AA:A	donor_gain	0.9600
11:125747821:AAGTA:A	donor_loss	0.9600
11:125747822:AGTAA:A	donor_loss	0.9600
11:125747823:GTAA:G	donor_loss	0.9600
11:125747824:TAA:T	donor_loss	0.9600
11:125747825:AAGTT:A	donor_loss	0.9600
11:125746659:A:AG	acceptor_gain	0.9500
11:125746660:G:GG	acceptor_gain	0.9500

AlphaMissense

840 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:125747739:T:G	F55C	0.990
11:125747717:T:A	C48S	0.989
11:125747718:G:C	C48S	0.989
11:125748670:G:C	W106C	0.989
11:125748670:G:T	W106C	0.989
11:125747774:T:A	C67S	0.988
11:125747775:G:C	C67S	0.988
11:125747753:T:A	C60S	0.987
11:125747754:G:C	C60S	0.987
11:125748716:T:A	C122S	0.987
11:125748717:G:C	C122S	0.987
11:125747774:T:C	C67R	0.986
11:125747726:T:A	C51S	0.985
11:125747727:G:C	C51S	0.985
11:125747798:T:A	C75S	0.985
11:125747798:T:C	C75R	0.985
11:125747799:G:A	C75Y	0.985
11:125747799:G:C	C75S	0.985
11:125747800:C:G	C75W	0.985
11:125747753:T:C	C60R	0.984
11:125747776:C:G	C67W	0.984
11:125747775:G:A	C67Y	0.983
11:125748618:T:C	L89S	0.982
11:125747733:T:C	L53P	0.981
11:125747738:T:C	F55L	0.981
11:125747740:C:A	F55L	0.981
11:125747740:C:G	F55L	0.981
11:125748668:T:A	W106R	0.981
11:125748668:T:C	W106R	0.981
11:125748646:T:G	C98W	0.980

dbSNP variants (sampled 300 via entrez): RS1000411140 (11:125747780 G>A), RS1001414957 (11:125746464 T>A,C,G), RS1002417405 (11:125744933 G>C), RS1002963564 (11:125748443 G>GA), RS1003610202 (11:125750337 G>A), RS1004254239 (11:125745252 G>A), RS1004521830 (11:125746188 C>T), RS1004840102 (11:125745541 C>A), RS1006045371 (11:125748459 A>G,T), RS1006223736 (11:125748832 A>G), RS1006869033 (11:125749627 C>A,T), RS1007044649 (11:125747108 A>G), RS1007223073 (11:125747373 C>T), RS1007782981 (11:125747866 T>A,C), RS1009466530 (11:125745464 C>T)

Disease associations

OMIM: gene MIM:606861 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002861_2	Breast cancer (survival)	1.000000e-09
GCST90002395_106	Mean platelet volume	2.000000e-12

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0000714	survival time

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
theaflavin-3,3’-digallate	affects expression	1
Benzo(a)pyrene	affects methylation	1
Valproic Acid	decreases methylation	1
Sodium Selenite	decreases expression	1

Clinical trials (associated diseases)

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