PRR23D1

Summary

PRR23D1 (proline rich 23 domain containing 1, HGNC:49420) is a protein-coding gene on chromosome 8p23.1, encoding Proline-rich protein 23D1 (E9PI22).

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001282479

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:49420
Approved symbol	PRR23D1
Name	proline rich 23 domain containing 1
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000255251
Ensembl biotype	protein_coding
Entrez	100131608

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000533250

RefSeq mRNA: 2 — MANE Select: NM_001282479 NM_001282479, NM_001421997

CCDS: CCDS64820

Canonical transcript exons

ENST00000533250 — 4 exons

Exon	Start	End
ENSE00002141070	7539627	7539881
ENSE00002149028	7540645	7540706
ENSE00002167227	7540952	7541019
ENSE00002193486	7541248	7542450

Expression profiles

Bgee: expression breadth broad, 21 present calls, max score 73.96.

Top tissues by expression

110 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	73.96	silver quality
right testis	UBERON:0004534	48.77	gold quality
testis	UBERON:0000473	47.45	gold quality
left testis	UBERON:0004533	45.77	gold quality
hindlimb stylopod muscle	UBERON:0004252	41.75	gold quality
prefrontal cortex	UBERON:0000451	41.10	gold quality
cortical plate	UBERON:0005343	40.51	gold quality
sural nerve	UBERON:0015488	39.27	gold quality
ganglionic eminence	UBERON:0004023	39.17	gold quality
putamen	UBERON:0001874	37.67	gold quality
pancreas	UBERON:0001264	37.43	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
nucleus accumbens	UBERON:0001882	37.12	silver quality
hypothalamus	UBERON:0001898	36.94	silver quality
granulocyte	CL:0000094	36.83	gold quality
body of pancreas	UBERON:0001150	36.81	gold quality
frontal cortex	UBERON:0001870	36.63	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	35.84	silver quality
leukocyte	CL:0000738	35.70	gold quality
Ammon’s horn	UBERON:0001954	35.64	silver quality
cerebral cortex	UBERON:0000956	35.09	gold quality
skeletal muscle tissue	UBERON:0001134	34.91	gold quality
substantia nigra	UBERON:0002038	34.91	silver quality
muscle tissue	UBERON:0002385	34.64	gold quality
monocyte	CL:0000576	34.54	gold quality
lymph node	UBERON:0000029	34.49	gold quality
endometrium	UBERON:0001295	34.48	silver quality
caudate nucleus	UBERON:0001873	34.43	silver quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting PRR23D1, 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-574-5P	100.00	66.01	989
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-3616-5P	99.55	67.02	989
HSA-MIR-573	99.55	67.44	955
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-422A	99.18	65.83	550
HSA-MIR-8066	99.05	68.66	1532
HSA-MIR-1257	98.97	68.02	1133
HSA-MIR-12125	98.59	67.54	1044
HSA-MIR-378A-3P	98.43	66.10	548
HSA-MIR-378B	98.43	65.36	573
HSA-MIR-378C	98.43	66.10	548
HSA-MIR-378D	98.43	66.10	548
HSA-MIR-378E	98.43	65.99	551
HSA-MIR-378F	98.43	65.66	554
HSA-MIR-378H	98.43	66.16	545
HSA-MIR-378I	98.43	66.10	548
HSA-MIR-1245B-3P	98.01	68.91	1387
HSA-MIR-432-5P	98.00	68.13	989
HSA-MIR-4638-3P	97.90	65.75	905
HSA-MIR-6818-5P	97.50	67.10	1167
HSA-MIR-4475	97.36	66.95	761
HSA-MIR-203B-5P	97.24	68.54	543
HSA-MIR-6718-5P	97.24	68.15	553
HSA-MIR-301A-5P	96.88	68.07	931
HSA-MIR-301B-5P	96.88	67.75	946

Cross-species orthologs

0 orthologs

Paralogs (5): PRR23B (ENSG00000184814), PRR23A (ENSG00000206260), PRR23E (ENSG00000214324), PRR23C (ENSG00000233701), PRR23D2 (ENSG00000255378)

Protein

Protein identifiers

Proline-rich protein 23D1 — E9PI22 (reviewed: E9PI22)

All UniProt accessions (1): E9PI22

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the PRR23 family.

RefSeq proteins (2): NP_001269408, NP_001408926 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018903	PRR23	Family

Pfam: PF10630

UniProt features (4 total): region of interest 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-E9PI22-F1	51.98	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 3 (showing top): MIR6867_5P, MIR4531, chr8p23

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

38 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRR23D1	DEFB107A	Q8IZN7	661
PRR23D1	A0A0G2JN59	A0A0G2JN59	599
PRR23D1	DEFB106A	Q8N104	594
PRR23D1	DEFB105A	Q8NG35	583
PRR23D1	FAM90A10	A6NDY2	583
PRR23D1	USP17L4	A6NCW7	477
PRR23D1	USP17L7	P0C7H9	446
PRR23D1	DEFB104A	Q8WTQ1	370
PRR23D1	DEFB103A	P81534	370
PRR23D1	USP17L1	Q7RTZ2	370
PRR23D1	PRR23B	Q6ZRT6	305
PRR23D1	PRR23A	A6NEV1	303
PRR23D1	DEFB108B	Q8NET1	297
PRR23D1	DEFB118	Q96PH6	295
PRR23D1	PRR23C	Q6ZRP0	271

IntAct

4 interactions, top by confidence:

A	B	Type	Score
PRR23D1	IQUB	psi-mi:“MI:0915”(physical association)	0.560
IQUB	PRR23D1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (2): PRR23D1 (Two-hybrid), PRR23D2 (Two-hybrid)

ESM2 similar proteins: A0A1B0GVQ3, A0A1W2PPK0, A0A1W2PPM1, A2A9I7, A6NCI8, A6QQS3, A7XCE8, E9PI22, E9PXT9, O15016, O91083, P09414, P0DMB1, P17923, P18804, P20879, P35965, P49750, Q0P670, Q12857, Q1RMX6, Q32LN6, Q32MG2, Q3B8N5, Q3T016, Q3V0A6, Q4JK59, Q5BI31, Q5T035, Q5ZKH6, Q642A3, Q6AXV6, Q6IMN6, Q6P1W5, Q6PEX7, Q6X4T0, Q80YD3, Q86UF4, Q8BII1, Q8C5V0

Diamond homologs: E9PI22, P0DMB1, Q6ZRP0, Q6ZRT6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

247 predictions. Top by Δscore:

Variant	Effect	Δscore
8:7540643:A:AG	acceptor_gain	1.0000
8:7540643:AGTTT:A	acceptor_gain	1.0000
8:7540644:G:GA	acceptor_gain	1.0000
8:7540644:GT:G	acceptor_gain	1.0000
8:7540644:GTT:G	acceptor_gain	1.0000
8:7540644:GTTT:G	acceptor_gain	1.0000
8:7540644:GTTTG:G	acceptor_gain	1.0000
8:7540707:G:GA	donor_loss	1.0000
8:7540708:T:G	donor_loss	1.0000
8:7540948:GCA:G	acceptor_loss	1.0000
8:7540949:CAGGT:C	acceptor_loss	1.0000
8:7540950:A:AG	acceptor_gain	1.0000
8:7540950:A:AT	acceptor_loss	1.0000
8:7540951:G:GC	acceptor_loss	1.0000
8:7540951:G:GG	acceptor_gain	1.0000
8:7540951:GGT:G	acceptor_gain	1.0000
8:7541018:AGGT:A	donor_loss	1.0000
8:7541020:G:GG	donor_gain	1.0000
8:7541021:T:A	donor_loss	1.0000
8:7541246:A:AG	acceptor_gain	1.0000
8:7541247:G:GA	acceptor_loss	1.0000
8:7541247:G:GG	acceptor_gain	1.0000
8:7539882:GTAT:G	donor_loss	0.9900
8:7540639:CTGCA:C	acceptor_loss	0.9900
8:7540640:TGCA:T	acceptor_loss	0.9900
8:7540641:GCA:G	acceptor_loss	0.9900
8:7540642:CAGTT:C	acceptor_loss	0.9900
8:7540644:G:T	acceptor_loss	0.9900
8:7540707:G:GG	donor_gain	0.9900
8:7541247:GA:G	acceptor_gain	0.9900

AlphaMissense

1810 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1005537648 (8:7535332 AT>A,ATT), RS1005983192 (8:7536650 G>A), RS1010056698 (8:7537074 G>A), RS1016618535 (8:7535777 G>A), RS1020084892 (8:7540994 C>T), RS1020473709 (8:7537081 G>A,C), RS1030133334 (8:7535833 G>A,C), RS1030249342 (8:7536921 A>C,G), RS1033981382 (8:7537124 C>A,G,T), RS1039679267 (8:7536677 C>G,T), RS1040110085 (8:7539116 G>A,C,T), RS1047133813 (8:7534955 A>G), RS1047163315 (8:7536324 A>C), RS1051708808 (8:7539220 A>G,T), RS1057232116 (8:7536080 T>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)

Clinical trials (associated diseases)

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