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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital anomalies of kidney and urinary tract 3 Pathogenic rs1555879360 RCV000735957
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital anomaly of kidney and urinary tract Pathogenic rs1555879360 RCV000662293
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAKUT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly Pubtator 26087292 Associate
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 24667635
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 9548974 Associate
★☆☆☆☆
Found in Text Mining only
Anodontia Anodontia Pubtator 28844109 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28586037
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 25616132 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 28586037
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 28848387
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone Disease BEFREE 28405613
★☆☆☆☆
Found in Text Mining only
Bone Diseases Metabolic Bone disease Pubtator 24841655 Associate
★☆☆☆☆
Found in Text Mining only