PAGE1

Summary

PAGE1 (PAGE family member 1, HGNC:4107) is a protein-coding gene on chromosome Xp11.23, encoding P antigen family member 1 (O75459).

This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. Unlike the other gene family members, this gene does not encode an antigenic peptide. Nothing is presently known about the function of this protein.

Source: NCBI Gene 8712 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 31 total
• MANE Select transcript: NM_003785

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4107
Approved symbol	PAGE1
Name	PAGE family member 1
Location	Xp11.23
Locus type	gene with protein product
Status	Approved
Aliases	PAGE-1, GAGE-9, CT16.3
Ensembl gene	ENSG00000068985
Ensembl biotype	protein_coding
OMIM	300288
Entrez	8712

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000376150

RefSeq mRNA: 1 — MANE Select: NM_003785 NM_003785

CCDS: CCDS14327

Canonical transcript exons

ENST00000376150 — 6 exons

Exon	Start	End
ENSE00000669978	49694099	49694201
ENSE00001307206	49695869	49695984
ENSE00001469566	49694708	49694778
ENSE00001603667	49689418	49689543
ENSE00001617739	49691249	49691374
ENSE00001928524	49687447	49687563

Expression profiles

Bgee: expression breadth broad, 34 present calls, max score 89.41.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3339 / max 69.4724, expressed in 70 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
199277	0.3095	69
199278	0.0244	15

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.41	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.22	gold quality
right testis	UBERON:0004534	84.38	gold quality
buccal mucosa cell	CL:0002336	82.72	silver quality
left testis	UBERON:0004533	82.47	gold quality
testis	UBERON:0000473	81.05	gold quality
pancreatic ductal cell	CL:0002079	63.44	silver quality
adult organism	UBERON:0007023	57.74	gold quality
periodontal ligament	UBERON:0008266	57.32	gold quality
decidua	UBERON:0002450	56.55	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	56.45	gold quality
myocardium	UBERON:0002349	54.66	gold quality
hair follicle	UBERON:0002073	52.76	gold quality
pericardium	UBERON:0002407	52.49	gold quality
epithelial cell of pancreas	CL:0000083	51.79	gold quality
thymus	UBERON:0002370	51.43	gold quality
quadriceps femoris	UBERON:0001377	50.95	gold quality
vastus lateralis	UBERON:0001379	50.75	gold quality
upper leg skin	UBERON:0004262	50.24	silver quality
Brodmann (1909) area 46	UBERON:0006483	50.12	gold quality
nasal cavity epithelium	UBERON:0005384	49.95	gold quality
ileal mucosa	UBERON:0000331	49.50	silver quality
deltoid	UBERON:0001476	49.29	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
choroid plexus epithelium	UBERON:0003911	48.89	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.63
E-GEOD-99795	no	287.54

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (22): PAGE4 (ENSG00000101951), XAGE2 (ENSG00000155622), PAGE5 (ENSG00000158639), XAGE3 (ENSG00000171402), XAGE5 (ENSG00000171405), GAGE2A (ENSG00000189064), PAGE3 (ENSG00000204279), XAGE1A (ENSG00000204379), XAGE1B (ENSG00000204382), GAGE1 (ENSG00000205777), GAGE12G (ENSG00000215269), GAGE10 (ENSG00000215274), GAGE12E (ENSG00000216649), GAGE12J (ENSG00000224659), GAGE12H (ENSG00000224902), GAGE12D (ENSG00000227488), PAGE2 (ENSG00000234068), GAGE12F (ENSG00000236362), GAGE12C (ENSG00000237671), PAGE2B (ENSG00000238269), GAGE13 (ENSG00000274274), GAGE2E (ENSG00000275113)

Protein

Protein identifiers

P antigen family member 1 — O75459 (reviewed: O75459)

Alternative names: AL5, G antigen 9, G antigen family B member 1, Prostate-associated gene 1 protein

All UniProt accessions (1): O75459

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Isolated from prostate cancer cell lines; expression associated with progression to androgen insensitive phenotype. Expressed in normal testis and at lower level in normal placenta.

Miscellaneous. This gene belongs to a multigene family expressed in a large variety of tumors whereas in normal tissues, expression is restricted to germ cells. These genes organized in clustered repeats, have a high degree of predicted sequence identity, but differ by scattered single nucleotide substitution. Their sequences contain either the antigenic peptide YYWPRPRRY or YRPRPRRY which is recognized by cytotoxic T-cells.

Similarity. Belongs to the GAGE family.

RefSeq proteins (1): NP_003776* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008625	GAGE_fam	Family
IPR031320	GAGE	Domain

Pfam: PF05831

UniProt features (9 total): compositionally biased region 3, modified residue 3, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75459-F1	61.01	0.00

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 (3): 63, 105, 144

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 29 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, BROWNE_HCMV_INFECTION_8HR_UP, HOFMANN_MYELODYSPLASTIC_SYNDROM_RISK_DN, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, ROZANOV_MMP14_TARGETS_UP, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, chrXp11, BMI1_DN_MEL18_DN.V1_UP, JAK2_DN.V1_UP, KRAS.KIDNEY_UP.V1_DN, ZHONG_RESPONSE_TO_AZACITIDINE_AND_TSA_UP, YEGNASUBRAMANIAN_PROSTATE_CANCER, GSE17974_CTRL_VS_ACT_IL4_AND_ANTI_IL12_0.5H_CD4_TCELL_UP, SATO_SILENCED_BY_METHYLATION_IN_PANCREATIC_CANCER_1

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

310 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PAGE1	PAGE2	Q7Z2X7	945
PAGE1	KLK3	P07288	678
PAGE1	EFNA5	P52803	541
PAGE1	KRTAP2-1	Q9BYU5	433
PAGE1	CST5	P28325	410
PAGE1	CHIT1	Q13231	410
PAGE1	CA1	P00915	405
PAGE1	KRTAP2-2	Q9BYT5	398
PAGE1	PAGE2B	Q5JRK9	392
PAGE1	CST4	P01036	389
PAGE1	DCD	P58461	389
PAGE1	MAGEB2	O15479	380
PAGE1	MAGEB1	P43366	379
PAGE1	CHIA	Q9BZP6	373
PAGE1	CTAG2	O75638	367

IntAct

42 interactions, top by confidence:

A	B	Type	Score
TEPSIN	AP4M1	psi-mi:“MI:0914”(association)	0.700
PAGE1	DDX49	psi-mi:“MI:0915”(physical association)	0.670
FAM9B	PAGE1	psi-mi:“MI:0915”(physical association)	0.560
PLPP4	PAGE1	psi-mi:“MI:0915”(physical association)	0.560
TFRC	PAGE1	psi-mi:“MI:0915”(physical association)	0.560
TNF	PAGE1	psi-mi:“MI:0915”(physical association)	0.560
CMTM7	PAGE1	psi-mi:“MI:0915”(physical association)	0.560
TMEM14B	PAGE1	psi-mi:“MI:0915”(physical association)	0.560
TMEM60	PAGE1	psi-mi:“MI:0915”(physical association)	0.560
MGST3	PAGE1	psi-mi:“MI:0915”(physical association)	0.560
PAGE1	TMEM254	psi-mi:“MI:0915”(physical association)	0.560
PAGE1	PLPP4	psi-mi:“MI:0915”(physical association)	0.560
PAGE1	TFRC	psi-mi:“MI:0915”(physical association)	0.560
PAGE1	TNF	psi-mi:“MI:0915”(physical association)	0.560
PAGE1	CMTM7	psi-mi:“MI:0915”(physical association)	0.560
PAGE1	SLC2A5	psi-mi:“MI:0915”(physical association)	0.560
PAGE1	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
PAGE1	TMEM60	psi-mi:“MI:0915”(physical association)	0.560
PAGE1	SLC1A1	psi-mi:“MI:0915”(physical association)	0.560
Ddb1	PHGDH	psi-mi:“MI:0915”(physical association)	0.400
PAGE1	CIBAR1	psi-mi:“MI:0914”(association)	0.350
CST1	PAGE1	psi-mi:“MI:0914”(association)	0.350

BioGRID (39): FAM9B (Two-hybrid), TFRC (Two-hybrid), DDX49 (Two-hybrid), SLC1A1 (Two-hybrid), TMEM254 (Two-hybrid), TMEM60 (Two-hybrid), TMEM14B (Two-hybrid), SLC2A5 (Two-hybrid), MGST3 (Two-hybrid), CMTM7 (Two-hybrid), PPAPDC1A (Two-hybrid), TNF (Two-hybrid), PAGE1 (Affinity Capture-MS), FAM92A1 (Affinity Capture-MS), NOL11 (Affinity Capture-MS)

ESM2 similar proteins: A0A0U1RQG5, A1L429, A6NDE8, A6NER3, A6NGK3, E1AZ71, O08664, O60829, O75459, O76087, P0C2W7, P0CL80, P0CL81, P0CL82, P0DSO3, P0DTW1, P52651, P62521, P86478, P86479, P86480, P86481, P86496, Q13066, Q13069, Q13070, Q17QW4, Q28181, Q2T9P9, Q32PA2, Q4V321, Q4V326, Q5JQC4, Q5U2Y8, Q62100, Q63803, Q64256, Q6NT46, Q6X7S9, Q7Z2X7

Diamond homologs: A1L429, A6NDE8, A6NER3, A6NGK3, O75459, O76087, P0CL80, P0CL81, P0CL82, P0DSO3, P0DTW1, Q13066, Q13069, Q13070, Q4V321, Q4V326, Q6NT46, Q8WTP9, Q96GT9, Q9UEU5, Q8WWM1, Q5JUK9, Q5JRK9, Q7Z2X7, Q96GU1, Q9HD64

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	25
Likely benign	0
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

982 predictions. Top by Δscore:

Variant	Effect	Δscore
X:49689413:CCTAC:C	donor_loss	1.0000
X:49689414:CTACC:C	donor_loss	1.0000
X:49689416:A:AT	donor_loss	1.0000
X:49689416:ACCTT:A	donor_gain	1.0000
X:49689417:CCTTC:C	donor_gain	1.0000
X:49689420:T:A	donor_gain	1.0000
X:49691247:A:AC	donor_gain	1.0000
X:49691247:A:AT	donor_loss	1.0000
X:49691247:AC:A	donor_gain	1.0000
X:49691248:C:CC	donor_gain	1.0000
X:49691248:CC:C	donor_gain	1.0000
X:49691248:CCTT:C	donor_gain	1.0000
X:49691370:CTGCC:C	acceptor_gain	1.0000
X:49691372:GCCCT:G	acceptor_loss	1.0000
X:49691373:CC:C	acceptor_gain	1.0000
X:49691373:CCCT:C	acceptor_gain	1.0000
X:49691373:CCCTT:C	acceptor_loss	1.0000
X:49691374:CC:C	acceptor_gain	1.0000
X:49691374:CCTT:C	acceptor_loss	1.0000
X:49691375:C:CC	acceptor_gain	1.0000
X:49691375:C:G	acceptor_loss	1.0000
X:49691375:C:T	acceptor_gain	1.0000
X:49691376:T:A	acceptor_loss	1.0000
X:49691376:T:C	acceptor_gain	1.0000
X:49691376:T:TC	acceptor_gain	1.0000
X:49694084:T:TA	donor_gain	1.0000
X:49694085:C:A	donor_gain	1.0000
X:49694090:T:A	donor_gain	1.0000
X:49694091:C:A	donor_gain	1.0000
X:49694116:C:CA	donor_gain	1.0000

AlphaMissense

949 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:49694762:A:C	F3L	0.777
X:49694762:A:T	F3L	0.777
X:49694764:A:G	F3L	0.777

dbSNP variants (sampled 300 via entrez): RS1000866467 (X:49696546 T>A,G), RS1000982033 (X:49696161 A>T), RS1001605307 (X:49690314 G>A), RS1002871356 (X:49692584 G>A,T), RS1004029681 (X:49687089 T>C), RS1005241250 (X:49696987 A>C), RS1005621627 (X:49697408 G>A), RS1005735088 (X:49688739 C>A), RS1006041038 (X:49691890 A>G), RS1006072165 (X:49691623 T>C), RS1008060253 (X:49695594 G>A), RS1008507836 (X:49695269 A>C), RS1009573544 (X:49687767 C>T), RS1009869184 (X:49691115 T>C), RS1009902063 (X:49690461 A>G)

Disease associations

OMIM: gene MIM:300288 | 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: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation	2
propionaldehyde	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
Acetaminophen	decreases expression	1
Aflatoxins	decreases expression	1
Aldehydes	increases expression	1
Ribonucleotides	affects binding	1
Valproic Acid	increases methylation	1
Metribolone	increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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