Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8204
Gene name Gene Name - the full gene name approved by the HGNC.
Nuclear receptor interacting protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NRIP1
Synonyms (NCBI Gene) Gene synonyms aliases
CAKUT3, RIP140
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q11.2-q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs1555879360 C>- Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006107 hsa-miR-140-3p Luciferase reporter assay, Western blot 21798241
MIRT006107 hsa-miR-140-3p Luciferase reporter assay, Western blot 21798241
MIRT006107 hsa-miR-140-3p Luciferase reporter assay, Western blot 21798241
MIRT006107 hsa-miR-140-3p Luciferase reporter assay, Western blot 21798241
MIRT006107 hsa-miR-140-3p Luciferase reporter assay, Western blot 21798241
Transcription factors
Transcription factor Regulation Reference
E2F1 Activation 22629304
ESRRA Activation 16923809
TFDP1 Activation 22629304
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602490 8001 ENSG00000180530
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital anomalies of kidney and urinary tract Congenital anomaly of kidney and urinary tract, Congenital anomalies of kidney and urinary tract 3 rs1555879360 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Long QT Syndrome long qt syndrome N/A N/A ClinVar
Myopia Myopia N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Associations from Text Mining Disease 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