AVPI1

Summary

AVPI1 (arginine vasopressin induced 1, HGNC:30898) is a protein-coding gene on chromosome 10q24.2, encoding Arginine vasopressin-induced protein 1 (Q5T686). May be involved in MAP kinase activation, epithelial sodium channel (ENaC) down-regulation and cell cycling.

Predicted to be involved in positive regulation of MAPK cascade.

Source: NCBI Gene 60370 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 25 total
• MANE Select transcript: NM_021732

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30898
Approved symbol	AVPI1
Name	arginine vasopressin induced 1
Location	10q24.2
Locus type	gene with protein product
Status	Approved
Aliases	VIP32, PP5395, VIT32
Ensembl gene	ENSG00000119986
Ensembl biotype	protein_coding
OMIM	618537
Entrez	60370

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 9 protein_coding

ENST00000370626, ENST00000894606, ENST00000894607, ENST00000894608, ENST00000894609, ENST00000894610, ENST00000894611, ENST00000926998, ENST00000950230

RefSeq mRNA: 1 — MANE Select: NM_021732 NM_021732

CCDS: CCDS7470

Canonical transcript exons

ENST00000370626 — 3 exons

Exon	Start	End
ENSE00001453182	97677424	97678025
ENSE00001453184	97679619	97679915
ENSE00001453185	97686766	97687241

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 98.16.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.7070 / max 268.1353, expressed in 1734 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
110945	11.2099	1634
110947	0.8401	543
110944	0.7842	556
110943	0.6269	378
110942	0.6233	388
110946	0.6227	356

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of stomach	UBERON:0001199	98.16	gold quality
skin of leg	UBERON:0001511	96.53	gold quality
skin of abdomen	UBERON:0001416	95.35	gold quality
adrenal tissue	UBERON:0018303	95.31	gold quality
tibial nerve	UBERON:0001323	95.17	gold quality
parotid gland	UBERON:0001831	94.82	gold quality
zone of skin	UBERON:0000014	94.37	gold quality
amniotic fluid	UBERON:0000173	94.15	gold quality
mucosa of paranasal sinus	UBERON:0005030	94.04	gold quality
popliteal artery	UBERON:0002250	93.97	gold quality
tibial artery	UBERON:0007610	93.96	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.70	gold quality
left ovary	UBERON:0002119	93.68	gold quality
lower esophagus mucosa	UBERON:0035834	93.67	gold quality
trachea	UBERON:0003126	93.33	gold quality
mucosa of transverse colon	UBERON:0004991	92.88	gold quality
lower esophagus muscularis layer	UBERON:0035833	92.31	gold quality
lower esophagus	UBERON:0013473	92.28	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.94	gold quality
right lobe of liver	UBERON:0001114	91.32	gold quality
cervix squamous epithelium	UBERON:0006922	91.20	silver quality
aorta	UBERON:0000947	91.18	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.12	gold quality
gingival epithelium	UBERON:0001949	91.09	gold quality
right ovary	UBERON:0002118	90.92	gold quality
sperm	CL:0000019	90.80	silver quality
ectocervix	UBERON:0012249	90.63	gold quality
decidua	UBERON:0002450	90.61	gold quality
left adrenal gland cortex	UBERON:0035825	90.50	gold quality
buccal mucosa cell	CL:0002336	90.43	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-1	yes	19.34
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting AVPI1, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-6165	99.44	67.12	1389
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-6510-5P	99.14	66.59	1081
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-6895-3P	98.79	65.69	996
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-4710	98.61	65.96	1048
HSA-MIR-299-5P	98.56	71.14	1140
HSA-MIR-4463	98.56	66.05	1071
HSA-MIR-7156-3P	98.25	67.66	859
HSA-MIR-4736	97.96	65.89	1287
HSA-MIR-3670	97.88	64.39	763
HSA-MIR-146B-3P	97.83	65.29	782
HSA-MIR-3620-5P	97.42	63.95	792
HSA-MIR-214-5P	97.34	66.50	617
HSA-MIR-5685	97.02	64.34	1004
HSA-MIR-1587	96.95	64.03	932
HSA-MIR-4433A-5P	96.79	65.01	599

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	avpi1	ENSDARG00000096214
mus_musculus	Avpi1	ENSMUSG00000018821
rattus_norvegicus	Avpi1	ENSRNOG00000014828

Protein

Protein identifiers

Arginine vasopressin-induced protein 1 — Q5T686 (reviewed: Q5T686)

All UniProt accessions (1): Q5T686

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in MAP kinase activation, epithelial sodium channel (ENaC) down-regulation and cell cycling.

RefSeq proteins (1): NP_068378* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR020282	Avpi1/C8orf4_dom	Domain
IPR039579	AVPI1	Family

Pfam: PF15063

UniProt features (9 total): compositionally biased region 3, region of interest 2, sequence conflict 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T686-F1	71.30	0.23

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 176 (showing top): ATF_B, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, MODULE_418, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, NAGASHIMA_NRG1_SIGNALING_UP, SHAFFER_IRF4_TARGETS_IN_PLASMA_CELL_VS_MATURE_B_LYMPHOCYTE, RICKMAN_METASTASIS_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, RIGGI_EWING_SARCOMA_PROGENITOR_DN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, OUYANG_PROSTATE_CANCER_PROGRESSION_UP, BURTON_ADIPOGENESIS_2

GO Biological Process (1): positive regulation of MAPK cascade (GO:0043410)

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
MAPK cascade	1
regulation of MAPK cascade	1
positive regulation of intracellular signal transduction	1
binding	1

Protein interactions and networks

STRING

356 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AVPI1	SAMD10	Q9BYL1	570
AVPI1	ALKBH7	Q9BT30	474
AVPI1	PDE6G	P18545	473
AVPI1	CACNG7	P62955	464
AVPI1	NCKIPSD	Q9NZQ3	455
AVPI1	GMCL2	Q8NEA9	432
AVPI1	MARVELD1	Q9BSK0	411
AVPI1	MRPS10	P82664	406
AVPI1	PIGP	P57054	398
AVPI1	DDX17	Q92841	395
AVPI1	KPNA1	P52294	378
AVPI1	LMAN2	Q12907	370
AVPI1	CHST6	Q9GZX3	365
AVPI1	SERPINI1	Q99574	361
AVPI1	RASL11B	Q9BPW5	356

IntAct

107 interactions, top by confidence:

A	B	Type	Score
AVPI1	MDFI	psi-mi:“MI:0915”(physical association)	0.780
MDFI	AVPI1	psi-mi:“MI:0915”(physical association)	0.780
KRTAP12-2	AVPI1	psi-mi:“MI:0915”(physical association)	0.670
AVPI1	KRTAP12-2	psi-mi:“MI:0915”(physical association)	0.670
	AVPI1	psi-mi:“MI:0915”(physical association)	0.560
AVPI1		psi-mi:“MI:0915”(physical association)	0.560
AVPI1	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.560
AVPI1	KRTAP10-9	psi-mi:“MI:0915”(physical association)	0.560
KRT40	AVPI1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-7	AVPI1	psi-mi:“MI:0915”(physical association)	0.560
AVPI1	KRT40	psi-mi:“MI:0915”(physical association)	0.560
CABP2	AVPI1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-6	AVPI1	psi-mi:“MI:0915”(physical association)	0.560
GOLGA6L9	AVPI1	psi-mi:“MI:0915”(physical association)	0.560
KRT31	AVPI1	psi-mi:“MI:0915”(physical association)	0.560
AVPI1	KRTAP4-2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (51): AVPI1 (Two-hybrid), KRT40 (Two-hybrid), KRTAP12-2 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-1 (Two-hybrid), KRTAP10-3 (Two-hybrid), AVPI1 (Reconstituted Complex), AVPI1 (Two-hybrid), AVPI1 (Affinity Capture-MS), AVPI1 (Two-hybrid), AVPI1 (Two-hybrid), AVPI1 (Two-hybrid), AVPI1 (Two-hybrid), AVPI1 (Two-hybrid)

ESM2 similar proteins: A0A8D9PCQ4, A6NGU7, B1X504, B2IBC1, B8MYS5, B8N0F2, K7EIQ3, O28317, O83921, O93636, P03793, P03854, P0C5R5, P0CW21, P16312, P17575, P17962, P19291, P19510, P20212, P20464, P23029, P47174, P53231, P53876, P75675, P76096, Q04W31, Q04XE1, Q10493, Q12HM7, Q38SP9, Q3E781, Q44066, Q49KV8, Q54BF4, Q54KG6, Q5T686, Q5VVS0, Q65477

Diamond homologs: Q3SZR0, Q5R8D4, Q5T686, Q8VDA6, Q9D7H4, Q9NR00, Q5E969, Q9D915

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 34 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
Keratinization	8	21.2×	4e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	23
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

298 predictions. Top by Δscore:

Variant	Effect	Δscore
10:97679614:CCTA:C	donor_loss	1.0000
10:97679616:TA:T	donor_loss	1.0000
10:97679618:C:CT	donor_loss	1.0000
10:97679677:T:TA	donor_gain	1.0000
10:97678021:GGATT:G	acceptor_gain	0.9900
10:97678022:GATTC:G	acceptor_loss	0.9900
10:97678023:ATTCT:A	acceptor_loss	0.9900
10:97678024:TT:T	acceptor_gain	0.9900
10:97678024:TTCTG:T	acceptor_loss	0.9900
10:97678025:TC:T	acceptor_loss	0.9900
10:97678026:C:A	acceptor_loss	0.9900
10:97678026:C:CC	acceptor_gain	0.9900
10:97678027:T:A	acceptor_loss	0.9900
10:97679617:A:AC	donor_gain	0.9900
10:97679618:C:CC	donor_gain	0.9900
10:97679912:TGCT:T	acceptor_gain	0.9900
10:97679914:CT:C	acceptor_gain	0.9900
10:97679916:C:CC	acceptor_gain	0.9900
10:97679922:A:C	acceptor_gain	0.9900
10:97679617:AC:A	donor_gain	0.9800
10:97679618:CC:C	donor_gain	0.9800
10:97679911:ATGCT:A	acceptor_gain	0.9800
10:97679915:TC:T	acceptor_loss	0.9800
10:97679916:C:A	acceptor_loss	0.9800
10:97679917:T:C	acceptor_loss	0.9800
10:97679922:A:AC	acceptor_gain	0.9800
10:97678022:GATT:G	acceptor_gain	0.9700
10:97678023:ATT:A	acceptor_gain	0.9600
10:97679925:C:CT	acceptor_gain	0.9600
10:97679618:CCTG:C	donor_gain	0.9500

AlphaMissense

953 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:97679778:A:G	F43S	0.995
10:97679814:A:G	F31S	0.995
10:97679813:G:C	F31L	0.993
10:97679813:G:T	F31L	0.993
10:97679815:A:G	F31L	0.993
10:97679777:A:C	F43L	0.991
10:97679777:A:T	F43L	0.991
10:97679779:A:G	F43L	0.991
10:97679814:A:C	F31C	0.989
10:97679817:A:G	I30T	0.988
10:97679819:G:C	N29K	0.985
10:97679819:G:T	N29K	0.985
10:97679778:A:C	F43C	0.984
10:97679790:A:G	I39T	0.982
10:97679815:A:C	F31V	0.982
10:97679834:C:A	K24N	0.980
10:97679834:C:G	K24N	0.980
10:97679779:A:C	F43V	0.979
10:97679817:A:C	I30S	0.979
10:97679817:A:T	I30N	0.979
10:97679779:A:T	F43I	0.978
10:97679694:A:T	L71H	0.977
10:97679815:A:T	F31I	0.976
10:97679790:A:C	I39S	0.975
10:97679839:G:T	R23S	0.974
10:97679902:C:G	G2R	0.971
10:97679694:A:G	L71P	0.968
10:97679733:A:T	I58N	0.968
10:97679836:T:C	K24E	0.958
10:97679820:T:A	N29I	0.957

dbSNP variants (sampled 300 via entrez): RS1001144295 (10:97681296 T>C), RS1001175502 (10:97678697 AAAAG>A), RS1001212668 (10:97685522 C>A), RS1001221878 (10:97688368 A>G), RS1001723285 (10:97687948 A>G), RS1001795858 (10:97681522 C>A,T), RS1002215182 (10:97686801 G>C,T), RS1002294845 (10:97679756 C>G), RS1002647732 (10:97679943 T>C), RS1003241771 (10:97681540 C>T), RS1003351061 (10:97687611 C>T), RS1003534406 (10:97679818 T>A,C,G), RS1003609334 (10:97687105 G>A,C), RS1003900922 (10:97686939 C>A,G,T), RS1004273756 (10:97680133 C>G)

Disease associations

OMIM: gene MIM:618537 | 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

50 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cisplatin	increases reaction, increases expression, decreases expression	3
bisphenol A	affects expression, increases expression	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Valproic Acid	increases expression, decreases methylation	2
Cyclosporine	decreases expression	2
Particulate Matter	increases abundance, affects cotreatment, decreases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	increases expression	1
di-n-butylphosphoric acid	affects expression	1
chloropicrin	affects expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
jinfukang	increases expression	1
PCI 5002	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Zoledronic Acid	decreases expression	1
Acetaminophen	increases expression	1
Aflatoxins	increases expression	1
Air Pollutants	increases expression, increases abundance	1
Atrazine	increases expression	1
Benzene	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Etoposide	affects response to substance	1

Clinical trials (associated diseases)

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