Reactome | AVP E47del [extracellular region]

AVP E47del [extracellular region]

Stable Identifier

R-HSA-5621396

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

extracellular region

Synonyms

AVP, Arg vasopressin, RecName: Full=Vasopressin-neurophysin 2-copeptin; AltName: Full=AVP-NPII; Contains: RecName: Full=Arg-vasopressin; Contains: RecName: Full=Neurophysin 2; AltName: Full=Neurophysin-II; Contains: RecName: Full=Copeptin; Flags: Precursor;
GN Name=AVP; Synonyms=ARVP, VP;
OS Homo sapiens, NEU2_HUMAN

Icon

Locations in the PathwayBrowser

Expand all

External Reference Information

External Reference

UniProt:P01185 AVP

Gene Names

AVP, ARVP, VP

Chain

signal peptide:1-19, peptide:20-28, chain:32-124, peptide:126-164

Reference Genes

BioGPS Gene:551 AVP

COSMIC (genes):AVP AVP

CTD Gene:551 AVP

dbSNP Gene:551 AVP

ENSEMBL:ENSG00000101200 AVP

HGNC:894 AVP

KEGG:hsa:551 AVP

Monarch:551 AVP

NCBI Gene:551 AVP

OMIM:192340 AVP

UCSC:P01185 AVP

Reference Transcript

Other Identifiers

11732028_at

16916638

207848_PM_at

207848_at

34020_at

3895225

3895226

3895227

3895228

551

8064575

A_23_P109133

GE57806

GO:0002125

GO:0003013

GO:0003084

GO:0003824

GO:0004672

GO:0005102

GO:0005179

GO:0005184

GO:0005185

GO:0005515

GO:0005576

GO:0005615

GO:0005829

GO:0006091

GO:0006833

GO:0007165

GO:0007204

GO:0007267

GO:0007621

GO:0007625

GO:0007626

GO:0008284

GO:0010628

GO:0014049

GO:0016740

GO:0022414

GO:0023052

GO:0030141

GO:0030307

GO:0030425

GO:0030669

GO:0031394

GO:0031410

GO:0031894

GO:0031895

GO:0032849

GO:0033574

GO:0035094

GO:0035176

GO:0035556

GO:0042310

GO:0042711

GO:0043066

GO:0043226

GO:0045471

GO:0045907

GO:0046718

GO:0048018

GO:0050891

GO:0051970

GO:0098772

GO:0098992

GO:0140096

HMNXSV003016839

ILMN_1811443

TC20000567.hg

TC20001386.hg

X62891_s_at

g13259532_3p_at

Participates

as a member of

AVP mutants [extracellular region] (Homo sapiens)

Other forms of this molecule

AVP(20-28) [extracellular region]

AVP(20-28) [cytosol]

AVP P7L [extracellular region]

AVP C67* [extracellular region]

AVP V67A [extracellular region]

AVP A1T [extracellular region]

AVP Y2H [extracellular region]

AVP G23R [extracellular region]

AVP(20-28) [clathrin-coated endocytic vesicle membrane]

Modified Residues

Name

Deletion of residues 47 to 47

Disease

Name	Identifier	Synonyms
neurohypophyseal diabetes insipidus	DOID:12388	central diabetes insipidus, Vasopressin deficiency, vasopressin defective diabetes insipidus, Pituitary diabetes insipidus

Cross References

RefSeq

XP_011527569.1, NP_000481.2

OpenTargets

ENSG00000101200

ENSEMBL

ENST00000380293, ENSP00000369647, ENSG00000101200

HPA

ENSG00000101200-AVP

GeneCards

AVP

PRO

P01185

Pharos - Targets

P01185

Orphanet

AVP

GlyGen

P01185

PDB

7KH0, 7R0C, 7DW9, 7BB6, 7BB7

Interactors (11)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:O43741 PRKAB2	2	PRKAB2 [cytosol] (R-HSA-200413) PRKAB2 [nucleoplasm] (R-HSA-164096)	0.556	3
UniProt:P15848 ARSB	12	OxA-ARSB [lysosomal lumen] (R-HSA-1606837) ARSB [endoplasmic reticulum lumen] (R-HSA-1614331) OxA-ARSB [endoplasmic reticulum lumen] (R-HSA-1614325) ARSB [ficolin-1-rich granule lumen] (R-HSA-6800887) ARSB [extracellular region] (R-HSA-6806236) ARSB [azurophil granule lumen] (R-HSA-6798774) ARSB H393P [lysosomal lumen] (R-HSA-5649492) ARSB R95Q [lysosomal lumen] (R-HSA-2314614) ARSB G144R [lysosomal lumen] (R-HSA-2314612) ARSB P116H [lysosomal lumen] (R-HSA-2314619) ARSB C117R [lysosomal lumen] (R-HSA-2314618) ARSB Y86del [lysosomal lumen] (R-HSA-2314606)	0.527	2
UniProt:Q6P9A2 GALNT18	1	GALNT18 [Golgi membrane] (R-HSA-913685)	0.527	2
UniProt:P42773 CDKN2C	1	CDKN2C [cytosol] (R-HSA-182572)	0.527	2
UniProt:Q13617 CUL2	3	CUL2 [cytosol] (R-HSA-416982) CUL2 [nucleoplasm] (R-HSA-1234126) G76-NEDD8-K689-CUL2 [cytosol] (R-HSA-8952511)	0.527	2
UniProt:O95260 ATE1			0.527	2
UniProt:Q5TEU4 NDUFAF5	1	NDUFAF5 [mitochondrial inner membrane] (R-HSA-5689127)	0.527	2
UniProt:Q92743 HTRA1	1	HTRA1 [extracellular region] (R-HSA-8855820)	0.527	2
UniProt:Q9UBX8 B4GALT6	1	B4GALT6 [Golgi membrane] (R-HSA-1015811)	0.527	2
UniProt:Q7LGC8 CHST3	8	CHST3 [Golgi membrane] (R-HSA-1971541) CHST3 E372K [Golgi membrane] (R-HSA-3636822) CHST3 L259P [Golgi membrane] (R-HSA-3636789) CHST3 R304Q [Golgi membrane] (R-HSA-3636788) CHST3 R222W [Golgi membrane] (R-HSA-3636785) CHST3 L307P [Golgi membrane] (R-HSA-3636832) CHST3 L286P [Golgi membrane] (R-HSA-3636831) CHST3 Y201* [Golgi membrane] (R-HSA-3636860)	0.527	2
UniProt:P49356 FNTB	1	FNTB [cytosol] (R-HSA-2530482)	0.527	2