Human Gene AVPR1A (ENST00000299178.4) from GENCODE V39
  Description: Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA. (from RefSeq NM_000706)
RefSeq Summary (NM_000706): The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000299178.4
Gencode Gene: ENSG00000166148.4
Transcript (Including UTRs)
   Position: hg38 chr12:63,142,759-63,151,201 Size: 8,443 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg38 chr12:63,147,359-63,150,836 Size: 3,478 Coding Exon Count: 2 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2022-01-17 08:30:34

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:63,142,759-63,151,201)mRNA (may differ from genome)Protein (418 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMGIOMIMPubMed
UniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: AVPR1A
Diseases sorted by gene-association score: acth-independent macronodular adrenal hyperplasia (9), asperger syndrome (7), borderline personality disorder (6), autism spectrum disorder (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.29 RPKM in Adrenal Gland
Total median expression: 64.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -156.00365-0.427 Picture PostScript Text
3' UTR -1121.304600-0.244 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein SequenceProtein Sequence Protein Sequence 
AlignmentAlignmentAlignment Alignment 

-  Descriptions from all associated GenBank mRNAs
  JD460327 - Sequence 441351 from Patent EP1572962.
JD070325 - Sequence 51349 from Patent EP1572962.
JD533844 - Sequence 514868 from Patent EP1572962.
JD157702 - Sequence 138726 from Patent EP1572962.
JD449508 - Sequence 430532 from Patent EP1572962.
JD333841 - Sequence 314865 from Patent EP1572962.
JD433942 - Sequence 414966 from Patent EP1572962.
JD241649 - Sequence 222673 from Patent EP1572962.
JD085739 - Sequence 66763 from Patent EP1572962.
JD324068 - Sequence 305092 from Patent EP1572962.
JD239384 - Sequence 220408 from Patent EP1572962.
JD146578 - Sequence 127602 from Patent EP1572962.
L25615 - Human arginine vasopressin receptor 1 (AVPR1) mRNA, complete cds.
JD328652 - Sequence 309676 from Patent EP1572962.
BC074804 - Homo sapiens arginine vasopressin receptor 1A, mRNA (cDNA clone MGC:104076 IMAGE:30915527), complete cds.
BC074803 - Homo sapiens arginine vasopressin receptor 1A, mRNA (cDNA clone MGC:103922 IMAGE:30915313), complete cds.
AF030625 - Homo sapiens SCCL vasopressin subtype 1a receptor mRNA, complete cds.
AF101725 - Homo sapiens vasopressin receptor subtype 1a mRNA, complete cds.
E11068 - Gene coding human blood vessel type vasopressin receptor.
S73899 - vascular-type vasopressin receptor [human, liver, mRNA, 1384 nt].
AY322550 - Homo sapiens arginine vasopressin receptor 1A mRNA, complete cds.
KJ890748 - Synthetic construct Homo sapiens clone ccsbBroadEn_00142 AVPR1A gene, encodes complete protein.
KJ534779 - Homo sapiens clone AVPR1A_iso-A_adult-A13 arginine vasopressin receptor 1A isoform A (AVPR1A) mRNA, partial cds, alternatively spliced.
KJ534780 - Homo sapiens clone AVPR1A_iso-B_fetal-F14 arginine vasopressin receptor 1A isoform B (AVPR1A) mRNA, partial cds, alternatively spliced.
AB464459 - Synthetic construct DNA, clone: pF1KB9000, Homo sapiens AVPR1A gene for arginine vasopressin receptor 1A, without stop codon, in Flexi system.
JD121122 - Sequence 102146 from Patent EP1572962.
JD540961 - Sequence 521985 from Patent EP1572962.
JD074675 - Sequence 55699 from Patent EP1572962.
JD501078 - Sequence 482102 from Patent EP1572962.
JD345783 - Sequence 326807 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04020 - Calcium signaling pathway
hsa04080 - Neuroactive ligand-receptor interaction
hsa04270 - Vascular smooth muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000299178.1, ENST00000299178.2, ENST00000299178.3, NM_000706, uc001sro.1, uc001sro.2, uc001sro.3, uc001sro.4, X5D2B0
UCSC ID: ENST00000299178.4
RefSeq Accession: NM_000706
CCDS: CCDS8965.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.