Gene Gene information from NCBI Gene database.
Entrez ID 8204
Gene name Nuclear receptor interacting protein 1
Gene symbol NRIP1
Synonyms (NCBI Gene)
CAKUT3RIP140
Chromosome 21
Chromosome location 21q11.2-q21.1
Summary Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors. Also known as RIP140, this protein modulates transcriptional activity of the estrogen re
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1555879360 C>- Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
659
miRTarBase ID miRNA Experiments Reference
MIRT006107 hsa-miR-140-3p Luciferase reporter assayWestern blot 21798241
MIRT006107 hsa-miR-140-3p Luciferase reporter assayWestern blot 21798241
MIRT006107 hsa-miR-140-3p Luciferase reporter assayWestern blot 21798241
MIRT006107 hsa-miR-140-3p Luciferase reporter assayWestern blot 21798241
MIRT006107 hsa-miR-140-3p Luciferase reporter assayWestern blot 21798241
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
E2F1 Activation 22629304
ESRRA Activation 16923809
TFDP1 Activation 22629304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 10364267
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin IDA 15831516
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602490 8001 ENSG00000180530
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P48552
Protein name Nuclear receptor-interacting protein 1 (Nuclear factor RIP140) (Receptor-interacting protein 140)
Protein function Modulates transcriptional activation by steroid receptors such as NR3C1, NR3C2 and ESR1. Also modulates transcriptional repression by nuclear hormone receptors. Positive regulator of the circadian clock gene expression: stimulates transcription
PDB 2GPO , 2GPP , 4S14 , 4S15 , 5NTI , 5NTN , 5NTW , 5NU1 , 6FZU , 6G05 , 6G07 , 9CWN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15687 NRIP1_repr_1 27 330 Nuclear receptor-interacting protein 1 repression 1 Family
PF15688 NRIP1_repr_2 411 738 Nuclear receptor-interacting protein 1 repression 2 Family
PF15689 NRIP1_repr_3 753 840 Nuclear receptor-interacting protein 1 repression 3 Family
PF15690 NRIP1_repr_4 848 1158 Nuclear receptor-interacting protein 1 repression 4 Family
Sequence
MTHGEELGSDVHQDSIVLTYLEGLLMHQAAGGSGTAVDKKSAGHNEEDQNFNISGSAFPT
CQSNGPVLNTHTYQGSGMLHLKKARLLQSSEDWNAAKRKRLSDSIMNLNVKKEALLAGMV
DSVPKGKQDSTLLASLLQSFSSRLQTVALSQQIRQSLKEQGYALSHDSLKVEKDLRCYGV
ASSHLKTLLKKSKVKDQKPDTNLPDVTKNLIRDRFAESPHHVGQSGTKVMSEPLSCAARL
QAVASMVEKRASPATSPKPSVACSQLALLLSSEAHLQQYSREHALKTQNANQAASERLAA
MARLQENGQKDVGSYQLPKGMSSHLNGQAR
TSSSKLMASKSSATVFQNPMGIIPSSPKNA
GYKNSLERNNIKQAANNSLLLHLLKSQTIPKPMNGHSHSERGSIFEESSTPTTIDEYSDN
NPSFTDDSSGDESSYSNCVPIDLSCKHRTEKSESDQPVSLDNFTQSLLNTWDPKVPDVDI
KEDQDTSKNSKLNSHQKVTLLQLLLGHKNEENVEKNTSPQGVHNDVSKFNTQNYARTSVI
ESPSTNRTTPVSTPPLLTSSKAGSPINLSQHSLVIKWNSPPYVCSTQSEKLTNTASNHSM
DLTKSKDPPGEKPAQNEGAQNSATFSASKLLQNLAQCGMQSSMSVEEQRPSKQLLTGNTD
KPIGMIDRLNSPLLSNKTNAVEENKAFSSQPTGPEPGLSGSEIENLLERRTVLQLLLGNP
NKGKSEKKEKTPLRDEST
QEHSERALSEQILMVKIKSEPCDDLQIPNTNVHLSHDAKSAP
FLGMAPAVQRSAPALPVSEDFKSEPVSPQDFSFSKNGLLSRLLRQNQDSYLADDSDRSHR

NNEMALLESKNLCMVPKKRKLYTEPLENPFKKMKNNIVDAANNHSAPEVLYGSLLNQEEL
KFSRNDLEFKYPAGHGSASESEHRSWARESKSFNVLKQLLLSENCVRDLSPHRSNSVADS
KKKGHKNNVTNSKPEFSISSLNGLMYSSTQPSSCMDNRTFSYPGVVKTPVSPTFPEHLGC
AGSRPESGLLNGCSMPSEKGPIKWVITDAEKNEYEKDSPRLTKTNPILYYMLQKGGNSVT
SRETQDKDIWREASSAESVSQVTAKEELLPTAETKASFFNLRSPYNSHMGNNASRPHSAN
GEVYGLLGSVLTIKKESE
Sequence length 1158
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    SUMOylation of transcription cofactors
Estrogen-dependent gene expression
NR1H2 & NR1H3 regulate gene expression linked to lipogenesis
NR1H2 & NR1H3 regulate gene expression linked to gluconeogenesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
64
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital anomalies of kidney and urinary tract 3 Pathogenic rs1555879360 RCV000735957
Congenital anomaly of kidney and urinary tract Pathogenic rs1555879360 RCV000662293
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs776154715 RCV004557849
Long QT syndrome Likely benign rs796052182 RCV000190190
NRIP1-related disorder Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity rs61733441, rs202001270, rs150468995, rs139263261, rs369484206, rs144297062, rs541238655, rs373749896, rs191185509, rs145216004, rs141953207, rs751193971, rs143089816, rs143638809, rs767671676
View all (33 more)
RCV003946020
RCV003923367
RCV004752154
RCV003978642
RCV003936560
RCV003973682
RCV003926699
RCV003963694
RCV003906533
RCV004731505
RCV004750789
RCV003961267
RCV003946400
RCV003928932
RCV003420680
RCV003414101
RCV003416819
RCV003412458
RCV003427973
RCV003410419
RCV003394354
RCV003397738
RCV003929208
RCV003929209
RCV003929226
RCV003919258
RCV004750911
RCV003956491
RCV003929341
RCV004750932
RCV003897032
RCV003983382
RCV003893946
RCV003924644
RCV003964163
RCV003944481
RCV003947089
RCV003959068
RCV003971387
RCV003947006
RCV003957197
RCV003971827
RCV003933263
RCV003933264
RCV003930705
RCV003910378
RCV003958300
RCV003940856
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acromegaly Associate 26087292
Alzheimer Disease Associate 9548974
Anodontia Associate 28844109
Atherosclerosis Associate 25616132
Bone Diseases Metabolic Associate 24841655
Breast Neoplasms Associate 15632153, 20410059, 23774759, 25145671, 29316957, 30669416, 32157438, 33790340, 34707101
Breast Neoplasms Inhibit 35501580
Carcinogenesis Associate 25391428, 32157438, 35501580
Carcinoma Embryonal Associate 17880687
Carcinoma Hepatocellular Inhibit 25391428