EPCIP

Summary

EPCIP (exosomal polycystin 1 interacting protein, HGNC:1305) is a protein-coding gene on chromosome 21q22.11, encoding Exosomal polycystin-1-interacting protein (Q9NYP8). Likely to be involved with PKD1 in the detection, sequestration and exocytosis of senescent mitochondria.

Enables identical protein binding activity. Involved in mitocytosis. Located in extracellular exosome and migrasome.

Source: NCBI Gene 56245 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 13 total — 1 pathogenic
• MANE Select transcript: NM_001162495

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1305
Approved symbol	EPCIP
Name	exosomal polycystin 1 interacting protein
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Aliases	B37, PRED81, CU062
Ensembl gene	ENSG00000205929
Ensembl biotype	protein_coding
Entrez	56245

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000382373, ENST00000479548, ENST00000487113, ENST00000490358, ENST00000861348, ENST00000946954

RefSeq mRNA: 3 — MANE Select: NM_001162495 NM_001162495, NM_001162496, NM_019596

CCDS: CCDS42919

Canonical transcript exons

ENST00000479548 — 4 exons

Exon	Start	End
ENSE00001491871	32790673	32794485
ENSE00001817822	32807642	32807716
ENSE00001915744	32813592	32813703
ENSE00003634340	32810574	32810654

Expression profiles

Bgee: expression breadth ubiquitous, 110 present calls, max score 73.08.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5775 / max 135.3765, expressed in 120 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
190215	0.2633	72
190216	0.2623	71
190214	0.0519	28

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ovary	UBERON:0000992	73.08	gold quality
left ovary	UBERON:0002119	72.97	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	71.68	gold quality
right ovary	UBERON:0002118	70.02	gold quality
adult mammalian kidney	UBERON:0000082	69.91	gold quality
adenohypophysis	UBERON:0002196	69.84	gold quality
pituitary gland	UBERON:0000007	69.76	gold quality
corpus callosum	UBERON:0002336	68.58	gold quality
metanephros cortex	UBERON:0010533	68.27	gold quality
kidney	UBERON:0002113	67.80	gold quality
body of pancreas	UBERON:0001150	64.38	gold quality
pancreas	UBERON:0001264	63.89	gold quality
hypothalamus	UBERON:0001898	62.23	gold quality
islet of Langerhans	UBERON:0000006	62.06	gold quality
left uterine tube	UBERON:0001303	61.68	gold quality
cortex of kidney	UBERON:0001225	61.19	gold quality
substantia nigra	UBERON:0002038	57.98	gold quality
bone marrow cell	CL:0002092	56.34	gold quality
fallopian tube	UBERON:0003889	56.15	gold quality
calcaneal tendon	UBERON:0003701	55.59	gold quality
tonsil	UBERON:0002372	55.48	gold quality
omental fat pad	UBERON:0010414	55.47	gold quality
adrenal tissue	UBERON:0018303	55.38	gold quality
gall bladder	UBERON:0002110	54.91	gold quality
ganglionic eminence	UBERON:0004023	54.81	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	54.45	gold quality
colonic epithelium	UBERON:0000397	53.81	gold quality
bone marrow	UBERON:0002371	53.78	silver quality
vermiform appendix	UBERON:0001154	53.42	gold quality
Ammon’s horn	UBERON:0001954	53.26	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	79.70
E-CURD-135	no	1111.35
E-HCAD-4	no	78.80
E-ANND-3	no	1.99

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

95 targeting EPCIP, 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-4795-3P	100.00	74.62	4024
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-4694-3P	99.79	69.53	2640

Literature-anchored findings (GeneRIF, showing 2)

• The C21orf120 promoter is activated by serum depletion according to promoter reporter assays in HEK 293 cells. (PMID:20494980)
• Polycystin-1 Interacting Protein-1 (CU062) Interacts with the Ectodomain of Polycystin-1 (PC1). (PMID:37681898)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Epcip	ENSMUSG00000039851
rattus_norvegicus	Epcip	ENSRNOG00000028670

Protein

Protein identifiers

Exosomal polycystin-1-interacting protein — Q9NYP8 (reviewed: Q9NYP8)

Alternative names: B37, Polycystin-1-interacting protein 1

All UniProt accessions (2): H7BYF8, Q9NYP8

UniProt curated annotations — full annotation on UniProt →

Function. Likely to be involved with PKD1 in the detection, sequestration and exocytosis of senescent mitochondria.

Subunit / interactions. Homooligomer. Interacts with PKD1 (via the PKD repeats in the N-terminal extracellular region); the interaction is not dependent on N-glycosylation of either protein.

Subcellular location. Vesicle. Secreted. Extracellular exosome.

Tissue specificity. Detected in the kidney and in the endothelium of large blood vessels (at protein level).

Post-translational modifications. N-glycosylated.

Similarity. Belongs to the EPCIP family.

RefSeq proteins (3): NP_001155967, NP_001155968, NP_062542 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029250	ECPIP	Family

Pfam: PF15137

UniProt features (7 total): glycosylation site 5, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NYP8-F1	76.98	0.35

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 (5): 29, 42, 95, 188, 210

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 93 (showing top): MODULE_255, MODULE_317, CAGCTG_AP4_Q5, BLALOCK_ALZHEIMERS_DISEASE_UP, MYOD_Q6, BROWN_MYELOID_CELL_DEVELOPMENT_DN, FREAC7_01, GOBP_MITOCHONDRION_LOCALIZATION, chr21q22, GOBP_ESTABLISHMENT_OF_MITOCHONDRION_LOCALIZATION, MODULE_95, GOBP_ORGANELLE_LOCALIZATION, GOBP_MITOCHONDRION_DISTRIBUTION, TGGAAA_NFAT_Q4_01, LEIN_CHOROID_PLEXUS_MARKERS

GO Biological Process (1): mitocytosis (GO:0160040)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (4): extracellular exosome (GO:0070062), migrasome (GO:0140494), extracellular region (GO:0005576), vesicle (GO:0031982)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mitochondrion distribution	1
establishment of mitochondrion localization	1
migracytosis	1
protein binding	1
binding	1
extracellular vesicle	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1
membrane-bounded organelle	1

Protein interactions and networks

STRING

306 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EPCIP	C3orf22	Q8N5N4	576
EPCIP	RNASE12	Q5GAN4	540
EPCIP	SMIM17	P0DL12	507
EPCIP	C12orf56	Q8IXR9	507
EPCIP	SH2D7	A6NKC9	480
EPCIP	CC2D2B	Q6DHV5	479
EPCIP	C1orf167	Q5SNV9	479
EPCIP	C22orf42	Q6IC83	478
EPCIP	ANKRD62	A6NC57	477
EPCIP	CLPSL1	A2RUU4	474
EPCIP	FAM131A	Q6UXB0	473
EPCIP	FAM149B1	Q96BN6	471
EPCIP	SPDYE4	A6NLX3	471
EPCIP	RD3L	P0DJH9	448
EPCIP	SMIM21	Q3B7S5	446

IntAct

9 interactions, top by confidence:

A	B	Type	Score
EPCIP	PKD1	psi-mi:“MI:0915”(physical association)	0.460
PKD1	EPCIP	psi-mi:“MI:0915”(physical association)	0.460
PKD1	EPCIP	psi-mi:“MI:0403”(colocalization)	0.460
EPCIP	EPCIP	psi-mi:“MI:0915”(physical association)	0.400

ESM2 similar proteins: A9JM73, F5HI32, P04494, P09258, P0C9K4, P0CAE3, P0CAE4, P0CAE5, P0CAE6, P11321, P15137, P16192, P16196, P16200, P16202, P16204, P16206, P16208, P16808, P21526, P21602, P22229, P22282, P22283, P26703, P27908, P27945, P33865, P35767, P35768, P60505, P60506, P67908, P67909, Q00320, Q04547, Q05100, Q2Y2M0, Q65959, Q66653

Diamond homologs: Q9D4G1, Q9NYP8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	4
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1526709	GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445)x1	Pathogenic

SpliceAI

353 predictions. Top by Δscore:

Variant	Effect	Δscore
21:32806568:A:C	donor_gain	1.0000
21:32807643:T:TA	donor_gain	1.0000
21:32794481:CTCAC:C	acceptor_gain	0.9900
21:32794483:CAC:C	acceptor_gain	0.9800
21:32802341:TC:T	donor_gain	0.9800
21:32794484:ACCTG:A	acceptor_loss	0.9700
21:32794486:C:T	acceptor_loss	0.9700
21:32794487:T:A	acceptor_loss	0.9700
21:32794364:G:C	acceptor_gain	0.9600
21:32794482:TCAC:T	acceptor_gain	0.9600
21:32794483:CACC:C	acceptor_gain	0.9600
21:32794930:T:TA	donor_gain	0.9600
21:32802342:C:CT	donor_gain	0.9600
21:32802343:T:TT	donor_gain	0.9600
21:32807640:ACCT:A	donor_gain	0.9600
21:32807641:CCTC:C	donor_gain	0.9600
21:32807636:TTTTA:T	donor_loss	0.9500
21:32807637:TTTAC:T	donor_loss	0.9500
21:32807638:TTA:T	donor_loss	0.9500
21:32807639:TAC:T	donor_loss	0.9500
21:32807640:A:C	donor_loss	0.9500
21:32807633:G:A	donor_gain	0.9400
21:32794364:G:GC	acceptor_gain	0.9300
21:32806567:AACTT:A	donor_gain	0.9200
21:32807644:C:A	donor_gain	0.9200
21:32794488:G:C	acceptor_loss	0.9100
21:32807642:C:A	donor_loss	0.9100
21:32794486:C:CC	acceptor_gain	0.8900
21:32806567:A:AC	donor_gain	0.8900
21:32806507:G:T	donor_gain	0.8800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000060357 (21:32810501 T>C), RS1000102137 (21:32795026 T>A), RS1000155007 (21:32809835 G>A), RS1000252370 (21:32809324 C>A), RS1000303408 (21:32813739 G>A), RS1000443061 (21:32801225 T>C), RS1000507791 (21:32796663 C>T), RS1000538864 (21:32796901 C>T), RS1000562613 (21:32794858 A>C), RS1000566956 (21:32790673 T>A), RS1001108610 (21:32813753 C>A,G), RS1001127368 (21:32790917 C>A), RS1001162314 (21:32796311 A>G), RS1001201657 (21:32813199 G>A), RS1001272850 (21:32808781 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

1 associations (top):

Study	Trait	p-value
GCST008832_7	Gastroesophageal reflux disease	3.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	decreases expression	1
arsenite	affects binding, increases reaction	1
fipronil	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
DEET	affects cotreatment, decreases expression	1
Rotenone	decreases expression	1
Silicon Dioxide	increases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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