ENSG00000113494


Homo sapiens

Features
Gene ID: ENSG00000113494
  
Biological name :PRLR
  
Synonyms : P16471 / PRLR / prolactin receptor
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: p13.2
Gene start: 35048756
Gene end: 35230589
  
Corresponding Affymetrix probe sets: 206346_at (Human Genome U133 Plus 2.0 Array)   210476_s_at (Human Genome U133 Plus 2.0 Array)   211917_s_at (Human Genome U133 Plus 2.0 Array)   216638_s_at (Human Genome U133 Plus 2.0 Array)   227629_at (Human Genome U133 Plus 2.0 Array)   231981_at (Human Genome U133 Plus 2.0 Array)   243755_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000424841
Ensembl peptide - ENSP00000425300
Ensembl peptide - ENSP00000484768
Ensembl peptide - ENSP00000482954
Ensembl peptide - ENSP00000482689
Ensembl peptide - ENSP00000479077
Ensembl peptide - ENSP00000441813
Ensembl peptide - ENSP00000427236
Ensembl peptide - ENSP00000427060
Ensembl peptide - ENSP00000231423
Ensembl peptide - ENSP00000309008
Ensembl peptide - ENSP00000311613
Ensembl peptide - ENSP00000380546
Ensembl peptide - ENSP00000421864
Ensembl peptide - ENSP00000422385
Ensembl peptide - ENSP00000422556
Ensembl peptide - ENSP00000422867
Ensembl peptide - ENSP00000422935
Ensembl peptide - ENSP00000423493
NCBI entrez gene - 5618     See in Manteia.
OMIM - 176761
RefSeq - XM_017009646
RefSeq - NM_000949
RefSeq - NM_001204314
RefSeq - NM_001204315
RefSeq - NM_001204316
RefSeq - NM_001204317
RefSeq - NM_001204318
RefSeq - XM_006714484
RefSeq - XM_011514068
RefSeq - XM_011514069
RefSeq - XM_017009645
RefSeq Peptide - NP_000940
RefSeq Peptide - NP_001191243
RefSeq Peptide - NP_001191244
RefSeq Peptide - NP_001191245
RefSeq Peptide - NP_001191246
RefSeq Peptide - NP_001191247
swissprot - D6R9P5
swissprot - D6R9E1
swissprot - D6R9V7
swissprot - D6RJC8
swissprot - D6RD41
swissprot - D6RC67
swissprot - D6RAN9
swissprot - P16471
Ensembl - ENSG00000113494
  
Related genetic diseases (OMIM): 615554 - Multiple fibroadenomas of the breast, 615554
  615555 - ?Hyperprolactinemia, 615555
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 prlraENSDARG00000016570Danio rerio
 prlrbENSDARG00000045955Danio rerio
 PRLRENSGALG00000003446Gallus gallus
 Gm21973ENSMUSG00000094814Mus musculus
 PrlrENSMUSG00000005268Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GHR / P10912 / growth hormone receptorENSG0000011296421
CRLF1 / O75462 / cytokine receptor like factor 1ENSG0000000601614


Protein motifs (from Interpro)
Interpro ID Name
 IPR003528  Long hematopoietin receptor, single chain, conserved site
 IPR003961  Fibronectin type III
 IPR013783  Immunoglobulin-like fold
 IPR015152  Growth hormone/erythropoietin receptor, ligand binding
 IPR033230  Prolactin receptor
 IPR036116  Fibronectin type III superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006694 steroid biosynthetic process NAS
 biological_processGO:0007166 cell surface receptor signaling pathway NAS
 biological_processGO:0007171 activation of transmembrane receptor protein tyrosine kinase activity IDA
 biological_processGO:0007566 embryo implantation TAS
 biological_processGO:0007595 lactation TAS
 biological_processGO:0038161 prolactin signaling pathway IEA
 biological_processGO:0042110 T cell activation NAS
 biological_processGO:0042976 activation of Janus kinase activity NAS
 biological_processGO:0043066 negative regulation of apoptotic process NAS
 biological_processGO:0060397 JAK-STAT cascade involved in growth hormone signaling pathway TAS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031904 endosome lumen TAS
 molecular_functionGO:0004896 cytokine receptor activity IEA
 molecular_functionGO:0004925 prolactin receptor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017046 peptide hormone binding IPI
 molecular_functionGO:0042803 protein homodimerization activity NAS
 molecular_functionGO:0042978 ornithine decarboxylase activator activity NAS
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Prolactin receptor signaling
Growth hormone receptor signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000132 Menorrhagia 
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 HP:0000134 Hypogonadism, female "Lack of function of the female gonads (i.e. ovaries)." [HPO:curators]
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 HP:0000141 Amenorrhea 
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 HP:0000789 Infertility 
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 HP:0000870 Hyperprolactinemia "The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy." [HPO:curators]
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 HP:0000876 Oligomenorrhea 
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 HP:0000938 Osteopenia "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators]
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 HP:0000939 Osteoporosis "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators]
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 HP:0012886 Hemorrhagic ovarian cyst "An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst." [HPO:probinson, pmid:12928726]
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 HP:0100829 Galactorrhoea "Spontaneous flow of milk from the breast, unassociated with childbirth or nursing." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100387 RBX1 / P62877 / ring-box 1  / reaction / complex
 ENSG00000172179 PRL / P01236 / prolactin  / reaction / complex
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / reaction / complex
 ENSG00000173757 P51692 / STAT5B / signal transducer and activator of transcription 5B  / reaction / complex
 ENSG00000259384 GH1 / P01241 / growth hormone 1  / complex / reaction
 ENSG00000126561 P42229 / STAT5A / signal transducer and activator of transcription 5A  / complex / reaction
 ENSG00000113494 PRLR / P16471 / prolactin receptor  / complex / reaction
 ENSG00000136488 CSH1 / P0DML2 / chorionic somatomammotropin hormone 1  / reaction / complex
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / complex / reaction
 ENSG00000178188 SH2B1 / Q9NRF2 / SH2B adaptor protein 1  / reaction / complex
 ENSG00000136487 GH2 / P01242 / growth hormone 2  / reaction / complex
 ENSG00000055130 CUL1 / Q13616 / cullin 1  / reaction / complex
 ENSG00000113558 SKP1 / P63208 / S-phase kinase associated protein 1  / complex / reaction
 ENSG00000166167 BTRC / Q9Y297 / beta-transducin repeat containing E3 ubiquitin protein ligase  / reaction / complex






 

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