PRRT1B

Summary

PRRT1B (proline rich transmembrane protein 1B, HGNC:53642) is a protein-coding gene on chromosome 9q34.13, encoding Proline rich transmembrane protein 1B (A0A1B0GWB2).

Predicted to be active in membrane.

Source: NCBI Gene 642515 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001395643

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53642
Approved symbol	PRRT1B
Name	proline rich transmembrane protein 1B
Location	9q34.13
Locus type	gene with protein product
Status	Approved
Aliases	IFITMD8, DSPD2
Ensembl gene	ENSG00000283526
Ensembl biotype	protein_coding
Entrez	642515

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 nonsense_mediated_decay

ENST00000636672, ENST00000850862, ENST00000877957, ENST00000954343

RefSeq mRNA: 2 — MANE Select: NM_001395643 NM_001365666, NM_001395643

CCDS: CCDS94520

Canonical transcript exons

ENST00000636672 — 4 exons

Exon	Start	End
ENSE00003795581	131556070	131556213
ENSE00003798848	131554557	131555029
ENSE00003978147	131558053	131559815
ENSE00003978148	131545523	131545640

Expression profiles

Bgee: expression breadth broad, 50 present calls, max score 80.00.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4424 / max 50.9024, expressed in 135 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
99111	0.2986	118
99112	0.1438	67

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	80.00	gold quality
right lobe of liver	UBERON:0001114	70.06	gold quality
islet of Langerhans	UBERON:0000006	69.41	gold quality
liver	UBERON:0002107	65.17	gold quality
pancreas	UBERON:0001264	64.84	gold quality
right lung	UBERON:0002167	64.51	gold quality
rectum	UBERON:0001052	62.47	gold quality
body of pancreas	UBERON:0001150	61.82	gold quality
body of stomach	UBERON:0001161	61.59	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	60.71	gold quality
fallopian tube	UBERON:0003889	60.20	gold quality
stomach	UBERON:0000945	60.11	gold quality
lung	UBERON:0002048	59.97	gold quality
upper lobe of left lung	UBERON:0008952	59.39	gold quality
mucosa of transverse colon	UBERON:0004991	57.94	gold quality
fundus of stomach	UBERON:0001160	55.83	gold quality
bone marrow cell	CL:0002092	55.66	gold quality
prostate gland	UBERON:0002367	55.58	gold quality
duodenum	UBERON:0002114	53.93	gold quality
gall bladder	UBERON:0002110	52.89	gold quality
transverse colon	UBERON:0001157	52.62	gold quality
metanephros cortex	UBERON:0010533	51.96	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	51.72	silver quality
adult mammalian kidney	UBERON:0000082	51.03	gold quality
kidney	UBERON:0002113	49.19	gold quality
granulocyte	CL:0000094	47.72	silver quality
apex of heart	UBERON:0002098	47.69	gold quality
colonic epithelium	UBERON:0000397	46.37	gold quality
gastrocnemius	UBERON:0001388	46.19	gold quality
skeletal muscle tissue	UBERON:0001134	45.76	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.03

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Prrt1b	ENSMUSG00000079497
rattus_norvegicus	Prrt1b	ENSRNOG00000046655

Paralogs (4): PRRT2 (ENSG00000167371), TRARG1 (ENSG00000184811), PRRT1 (ENSG00000204314), TMEM233 (ENSG00000224982)

Protein

Protein identifiers

Proline rich transmembrane protein 1B — A0A1B0GWB2 (reviewed: A0A1B0GWB2)

All UniProt accessions (1): A0A1B0GWB2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the CD225/Dispanin family.

RefSeq proteins (2): NP_001352595, NP_001382572* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007593	CD225/Dispanin_fam	Family
IPR051423	CD225/Dispanin	Family

Pfam: PF04505

UniProt features (7 total): compositionally biased region 3, transmembrane region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GWB2-F1	58.48	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 5 (showing top): chr9q34, GREB1_TARGET_GENES, HMG20B_TARGET_GENES, ZIM3_TARGET_GENES, AHRR_TARGET_GENES

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

46 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRRT1B	TMEM91	Q6ZNR0	554
PRRT1B	TMEM233	B4DJY2	547
PRRT1B	SYNDIG1L	A6NDD5	509
PRRT1B	SYNDIG1	Q9H7V2	448
PRRT1B	TRARG1	Q8IXB3	446
PRRT1B	HAUS6	Q7Z4H7	434
PRRT1B	IFITM10	A6NMD0	419
PRRT1B	CEP152	O94986	349
PRRT1B	PRRT2	Q7Z6L0	339
PRRT1B	PRRT1	Q99946	324
PRRT1B	PGGHG	Q32M88	315
PRRT1B	IFITM5	A6NNB3	308
PRRT1B	DLGAP5	Q15398	272
PRRT1B	LRWD1	Q9UFC0	236
PRRT1B	CSNK1D	P48730	200

IntAct

0 interactions, top by confidence:

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: A0A1B0GWB2, O35449, Q6MG82, Q99946, A2ANU3, A4IFJ1, A6NDD5, Q08DM6, Q3USQ7, Q4R532, Q58DZ9, Q5TZE2, Q6ZNR0, Q8C581, Q9H7V2

SIGNOR signaling

0 interactions.

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

0 predictions. Top by Δscore:

AlphaMissense

1660 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:131558131:A:C	S241R	1.000
9:131558133:C:A	S241R	1.000
9:131558133:C:G	S241R	1.000
9:131558144:G:A	G245E	0.999
9:131558161:A:C	S251R	0.999
9:131558163:C:A	S251R	0.999
9:131558163:C:G	S251R	0.999
9:131556169:T:C	C200R	0.998
9:131556172:T:C	C201R	0.998
9:131556184:G:C	G205R	0.998
9:131556185:G:A	G205D	0.998
9:131556206:C:T	S212F	0.998
9:131558132:G:T	S241I	0.998
9:131558143:G:A	G245R	0.998
9:131558143:G:C	G245R	0.998
9:131558164:T:A	W252R	0.998
9:131558164:T:C	W252R	0.998
9:131556170:G:A	C200Y	0.997
9:131556194:C:A	A208D	0.997
9:131556206:C:A	S212Y	0.996
9:131556133:G:C	D188H	0.995
9:131558120:T:C	L237P	0.995
9:131558132:G:A	S241N	0.995
9:131558135:T:C	L242P	0.995
9:131556148:T:C	S193P	0.994
9:131556171:C:G	C200W	0.994
9:131556185:G:T	G205V	0.993
9:131556200:T:A	V210D	0.993
9:131556173:G:A	C201Y	0.992
9:131556205:T:C	S212P	0.992

dbSNP variants (sampled 300 via entrez): RS1000125330 (9:131545277 C>T), RS1000340914 (9:131559266 A>G), RS1000436314 (9:131557389 A>G), RS1000456986 (9:131558988 G>A), RS1000499073 (9:131545482 A>G), RS1000651834 (9:131552408 G>A), RS1000680646 (9:131558119 C>T), RS1001098631 (9:131547008 G>C), RS1001535011 (9:131546721 C>T), RS1001695328 (9:131554887 A>T), RS1001729578 (9:131551530 G>A), RS1001907540 (9:131557760 G>A), RS1001999795 (9:131545977 G>A,T), RS1002562939 (9:131547562 A>G), RS1002600545 (9:131547356 A>G)

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

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
abrine	decreases expression	1

Clinical trials (associated diseases)

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