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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
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI) (Homo sapiens)
Defective AVP mutants do not bind AVPR1A,B (Homo sapiens)
AVP mutants [extracellular region] (Homo sapiens)
AVP E47del [extracellular region] (Homo sapiens)
Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI) (Homo sapiens)
Defective AVP mutants do not bind AVPR2 (Homo sapiens)
AVP mutants [extracellular region] (Homo sapiens)
AVP E47del [extracellular region] (Homo sapiens)
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 Gene (Homo sapiens):551 AVP
Monarch:551 AVP
NCBI Gene:551 AVP
OMIM:192340 AVP
Reference Transcript
RefSeq:XM_011529267.1 AVP
RefSeq:NM_000490.4 AVP
Other Identifiers
0001980398
11732028_at
16916638
207848_PM_at
207848_at
34020_at
3895225
3895226
3895227
3895228
551
8064575
A_23_P109133
GE57806
GO:0000003
GO:0002125
GO:0003013
GO:0003084
GO:0003674
GO:0004672
GO:0005102
GO:0005179
GO:0005184
GO:0005185
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0005829
GO:0006091
GO:0006464
GO:0006468
GO:0006629
GO:0006810
GO:0006833
GO:0006915
GO:0006950
GO:0007005
GO:0007165
GO:0007204
GO:0007267
GO:0007621
GO:0007625
GO:0007626
GO:0008150
GO:0008219
GO:0008283
GO:0008284
GO:0009058
GO:0010628
GO:0014049
GO:0014070
GO:0016301
GO:0030141
GO:0030234
GO:0030307
GO:0030425
GO:0030669
GO:0031394
GO:0031410
GO:0031894
GO:0031895
GO:0032849
GO:0033138
GO:0033574
GO:0035094
GO:0035176
GO:0035813
GO:0040007
GO:0042310
GO:0042538
GO:0042592
GO:0042711
GO:0043027
GO:0043066
GO:0043084
GO:0043154
GO:0043226
GO:0044281
GO:0044403
GO:0045471
GO:0045907
GO:0046718
GO:0050877
GO:0050891
GO:0051970
GO:0070371
GO:0070528
GO:0090201
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) [clathrin-coated endocytic vesicle membrane]
AVP G23R [extracellular region]
AVP Y2H [extracellular region]
AVP A1T [extracellular region]
AVP V67A [extracellular region]
AVP C67* [extracellular region]
AVP P7L [extracellular region]
AVP(20-28) [cytosol]
AVP(20-28) [extracellular region]
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
NP_000481.2
,
XP_011527569.1
OpenTargets
ENSG00000101200
GeneCards
P01185
HPA
ENSG00000101200-AVP
Ensembl
ENSP00000369647
,
ENSG00000101200
,
ENST00000380293
PRO
P01185
Pharos - Targets
P01185
Orphanet
15343
PDB
7BB6
,
7BB7
,
7KH0
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:O43741 PRKAB2
2
PRKAB2 [cytosol]
(R-HSA-200413)
PRKAB2 [nucleoplasm]
(R-HSA-164096)
0.556
3
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