UPK3BL1

Summary

UPK3BL1 (uroplakin 3B like 1, HGNC:37278) is a protein-coding gene on chromosome 7q22.1, encoding Uroplakin-3b-like protein 1 (B0FP48).

Predicted to be active in membrane.

Source: NCBI Gene 100134938 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001114403

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37278
Approved symbol	UPK3BL1
Name	uroplakin 3B like 1
Location	7q22.1
Locus type	gene with protein product
Status	Approved
Aliases	UPLP
Ensembl gene	ENSG00000267368
Ensembl biotype	protein_coding
Entrez	100134938

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000340457, ENST00000868524, ENST00000962212

RefSeq mRNA: 1 — MANE Select: NM_001114403 NM_001114403

CCDS: CCDS47675

Canonical transcript exons

ENST00000340457 — 6 exons

Exon	Start	End
ENSE00001649827	102637025	102637633
ENSE00001683829	102642630	102642791
ENSE00003487984	102640612	102640773
ENSE00003522531	102638714	102638834
ENSE00003558600	102640204	102640414
ENSE00003689175	102639123	102639199

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.14.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	99.14	gold quality
esophagus mucosa	UBERON:0002469	96.70	gold quality
vagina	UBERON:0000996	94.83	gold quality
granulocyte	CL:0000094	94.15	gold quality
mucosa of transverse colon	UBERON:0004991	92.91	gold quality
right lobe of thyroid gland	UBERON:0001119	92.62	gold quality
spleen	UBERON:0002106	92.20	gold quality
left lobe of thyroid gland	UBERON:0001120	92.08	gold quality
thyroid gland	UBERON:0002046	91.64	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.62	gold quality
right uterine tube	UBERON:0001302	90.65	gold quality
esophagus	UBERON:0001043	90.08	gold quality
ectocervix	UBERON:0012249	89.87	gold quality
fundus of stomach	UBERON:0001160	89.71	gold quality
prostate gland	UBERON:0002367	88.97	gold quality
cortex of kidney	UBERON:0001225	88.87	gold quality
right lobe of liver	UBERON:0001114	88.64	gold quality
small intestine Peyer’s patch	UBERON:0003454	88.49	gold quality
adenohypophysis	UBERON:0002196	88.42	gold quality
pituitary gland	UBERON:0000007	88.36	gold quality
right ovary	UBERON:0002118	88.29	gold quality
blood	UBERON:0000178	88.26	gold quality
primary visual cortex	UBERON:0002436	87.85	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.73	gold quality
left uterine tube	UBERON:0001303	87.64	gold quality
metanephros cortex	UBERON:0010533	87.48	gold quality
body of pancreas	UBERON:0001150	87.10	gold quality
minor salivary gland	UBERON:0001830	87.09	gold quality
upper lobe of left lung	UBERON:0008952	87.08	gold quality
small intestine	UBERON:0002108	86.87	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.13
E-GEOD-99795	no	95.94

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting UPK3BL1, 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-3613-3P	100.00	76.36	7965
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-7977	98.65	66.18	2590
HSA-MIR-3187-5P	98.36	65.74	1776
HSA-MIR-4684-5P	98.29	67.99	1650
HSA-MIR-484	98.16	66.92	1074
HSA-MIR-340-3P	98.11	68.25	679
HSA-MIR-4457	98.09	67.12	1274
HSA-MIR-6827-3P	98.08	72.27	651
HSA-MIR-4253	97.48	65.11	692
HSA-MIR-6862-5P	97.48	64.84	713
HSA-MIR-4640-5P	97.42	66.33	1543

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	upk3b	ENSDARG00000092872
mus_musculus	Upk3bl	ENSMUSG00000006143
rattus_norvegicus	Upk3bl1	ENSRNOG00000038896

Paralogs (3): UPK3A (ENSG00000100373), UPK3B (ENSG00000243566), UPK3BL2 (ENSG00000284981)

Protein

Protein identifiers

Uroplakin-3b-like protein 1 — B0FP48 (reviewed: B0FP48)

All UniProt accessions (1): B0FP48

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the uroplakin-3 family.

RefSeq proteins (1): NP_001107875* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024831	Uroplakin-3	Family

UniProt features (8 total): glycosylation site 3, topological domain 2, signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-B0FP48-F1	82.79	0.60

Functional residue map

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

Glycosylation sites (3): 51, 76, 91

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 23 (showing top): CHYLA_CBFA2T3_TARGETS_UP, MIR616_5P, MIR371B_5P, MIR373_5P, MIR7110_3P, MIR6827_3P, MIR340_3P, chr7q22, THAKAR_PBMC_INACTIVATED_INFLUENZA_AGE_21_30YO_RESPONDERS_28DY_DN, THAKAR_PBMC_INACTIVATED_INFLUENZA_AGE_21_30YO_RESPONDERS_7DY_DN, SU_HO_CONV_CENT_CHONDROSARCOMA_C1_HIGH_GRADE_CHONDROSARCOMA_2, GSE30083_SP2_VS_SP4_THYMOCYTE_UP, GSE2770_UNTREATED_VS_TGFB_AND_IL12_TREATED_ACT_CD4_TCELL_2H_UP, GSE24210_IL35_TREATED_VS_UNTREATED_TCONV_CD4_TCELL_DN, GSE16385_UNTREATED_VS_12H_ROSIGLITAZONE_IL4_TREATED_MACROPHAGE_DN

GO Biological Process (0):

GO Molecular Function (0):

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

765 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UPK3BL1	CFC1B	P0CG36	411
UPK3BL1	TTC39A	Q5SRH9	384
UPK3BL1	LPA	P08519	359
UPK3BL1	ZKSCAN5	Q9Y2L8	353
UPK3BL1	PRR13	Q9NZ81	348
UPK3BL1	POLR2J3	Q9H1A7	336
UPK3BL1	POLR2J2	Q9GZM3	325
UPK3BL1	UPK1B	O75841	316
UPK3BL1	GPR149	Q86SP6	307
UPK3BL1	SYT8	Q8NBV8	307
UPK3BL1	PLGRKT	Q9HBL7	301
UPK3BL1	GRID2IP	A4D2P6	295
UPK3BL1	RBP5	P82980	288
UPK3BL1	RNF152	Q8N8N0	282
UPK3BL1	FKBP15	Q5T1M5	268

IntAct

62 interactions, top by confidence:

A	B	Type	Score
BTN2A1	POTEF	psi-mi:“MI:0914”(association)	0.530
SPINT2	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
FSHR	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
EVA1C	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
PLXDC2	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
MCOLN3	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
ZNRF4	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
KCNS3	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
PCDHB16	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
IL20RA	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
TSPAN17	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
LRRTM1	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
LRRTM1	TMEM223	psi-mi:“MI:0914”(association)	0.350
TEX28	NBAS	psi-mi:“MI:0914”(association)	0.350
ICOSLG	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
TMPRSS3	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
TMED6	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
ASIC4	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
TMEM30A	UPK3BL1	psi-mi:“MI:0914”(association)	0.350

BioGRID (74): UPK3BL (Affinity Capture-MS), UPK3BL (Affinity Capture-MS), UPK3BL (Affinity Capture-MS), UPK3BL (Affinity Capture-MS), UPK3BL (Affinity Capture-MS), UPK3BL (Affinity Capture-MS), UPK3BL (Affinity Capture-MS), UPK3BL (Affinity Capture-MS), UPK3BL (Affinity Capture-MS), UPK3BL (Affinity Capture-MS), UPK3BL (Affinity Capture-MS), UPK3BL (Affinity Capture-MS), UPK3BL (Affinity Capture-MS), UPK3BL (Affinity Capture-MS), UPK3BL (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GW64, A0A5F4BST2, A0PJX4, A8MVS5, A8MWV9, B0FP48, E5RIL1, E9PGG2, O14836, O60320, O95998, P09564, Q01113, Q01114, Q13477, Q2KI80, Q2T9R2, Q3TS39, Q3UPR0, Q3URD2, Q4V9L6, Q5FVJ4, Q5M869, Q6A044, Q6UWJ8, Q75VT8, Q864V4, Q8BRJ3, Q8BX43, Q8C503, Q8IVY1, Q8K5A9, Q8N112, Q8NC24, Q8NDY8, Q8QZT4, Q8R138, Q969Z4, Q9BUF7, Q9CQM1

Diamond homologs: A6QQ85, B0FP48, E5RIL1, Q13670, Q80YF6, Q864V4, Q9BT76, Q9D701, O75631, P38574, Q9JKX8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 51 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
R-HSA-425393	5	23.2×	2e-04
SLC-mediated transmembrane transport	5	10.6×	3e-03
Transport of small molecules	7	6.3×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1196 predictions. Top by Δscore:

Variant	Effect	Δscore
7:102638855:C:CT	acceptor_gain	1.0000
7:102638857:C:CT	acceptor_gain	1.0000
7:102638859:C:CT	acceptor_gain	1.0000
7:102639121:A:C	donor_loss	1.0000
7:102639122:C:G	donor_loss	1.0000
7:102639122:CCTTG:C	donor_gain	1.0000
7:102639198:CC:C	acceptor_gain	1.0000
7:102639199:CC:C	acceptor_gain	1.0000
7:102639200:C:CC	acceptor_gain	1.0000
7:102640199:CTCA:C	donor_loss	1.0000
7:102640200:TCAC:T	donor_loss	1.0000
7:102640200:TCACC:T	donor_loss	1.0000
7:102640201:CACC:C	donor_loss	1.0000
7:102640201:CACCT:C	donor_loss	1.0000
7:102640202:ACCTG:A	donor_loss	1.0000
7:102640203:C:G	donor_loss	1.0000
7:102640412:TGG:T	acceptor_gain	1.0000
7:102640415:C:CC	acceptor_gain	1.0000
7:102640609:CACCG:C	donor_loss	1.0000
7:102640610:A:AC	donor_gain	1.0000
7:102640611:C:CC	donor_gain	1.0000
7:102640611:C:CG	donor_loss	1.0000
7:102640627:C:CT	donor_gain	1.0000
7:102640628:C:CT	donor_gain	1.0000
7:102640769:GGCAG:G	acceptor_gain	1.0000
7:102640770:GCAG:G	acceptor_gain	1.0000
7:102640771:CAG:C	acceptor_gain	1.0000
7:102640771:CAGC:C	acceptor_gain	1.0000
7:102640772:AG:A	acceptor_gain	1.0000
7:102640774:C:CC	acceptor_gain	1.0000

AlphaMissense

1685 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:102639148:C:A	W179C	0.993
7:102639148:C:G	W179C	0.993
7:102639190:G:C	F165L	0.992
7:102639190:G:T	F165L	0.992
7:102639192:A:G	F165L	0.992
7:102639191:A:C	F165C	0.989
7:102639191:A:G	F165S	0.988
7:102639150:A:G	W179R	0.987
7:102639150:A:T	W179R	0.987
7:102640671:A:C	F72C	0.987
7:102640670:G:C	F72L	0.986
7:102640670:G:T	F72L	0.986
7:102640672:A:G	F72L	0.986
7:102640401:G:C	F96L	0.982
7:102640401:G:T	F96L	0.982
7:102640403:A:G	F96L	0.982
7:102640671:A:G	F72S	0.973
7:102640698:A:G	F63S	0.970
7:102639155:G:A	T177I	0.969
7:102639193:C:A	K164N	0.967
7:102639193:C:G	K164N	0.967
7:102640233:G:C	N152K	0.965
7:102640233:G:T	N152K	0.965
7:102640402:A:C	F96C	0.965
7:102640273:C:A	G139V	0.962
7:102640746:G:T	P47H	0.959
7:102640237:C:G	C151S	0.957
7:102640238:A:T	C151S	0.957
7:102640208:A:C	Y161D	0.956
7:102640276:A:T	V138D	0.953

dbSNP variants (sampled 300 via entrez): RS10255511 (7:102644584 C>T), RS1031215080 (7:102643472 C>A), RS1043986391 (7:102641831 C>T), RS1050237116 (7:102640017 G>A,T), RS1056455109 (7:102641338 C>T), RS1063549 (7:102637142 T>C), RS112489501 (7:102643234 A>G), RS112626569 (7:102637262 T>C), RS1140577 (7:102637253 T>C), RS1140578 (7:102637234 T>C), RS1140579 (7:102637231 T>C), RS1140580 (7:102637217 T>C), RS1140582 (7:102637154 T>C), RS1156270553 (7:102640023 T>A,C), RS1156304827 (7:102637608 G>A,C)

Disease associations

OMIM: gene `` | 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

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Smoke	decreases expression, increases abundance, increases expression	2
ethyl-p-hydroxybenzoate	increases expression	1
ICG 001	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Furaldehyde	affects cotreatment, affects localization, increases expression	1
Sodium Chloride	affects cotreatment, affects localization, increases expression	1
Okadaic Acid	decreases expression	1
S-Nitrosoglutathione	decreases expression	1

Clinical trials (associated diseases)

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