NRIP1
entrez
8204
canonical
uniprot
P48552
canonical
ensembl
ENSG00000180530
resolver
ensp
ENSP00000327213
resolver
ensp
ENSP00000383060
resolver
ensp
ENSP00000383063
resolver
ensp
ENSP00000678750
resolver
ensp
ENSP00000678751
resolver
ensp
ENSP00000678752
resolver
ensp
ENSP00000790906
resolver
ensp
ENSP00000790907
resolver
enst
ENST00000318948
resolver
enst
ENST00000400199
resolver
enst
ENST00000400202
resolver
genesymbol
NRIP1
resolver
hgnc
HGNC:8001
resolver
uniprot
A8K171
resolver
uniprot
Q8IWE8
resolver
uniprot_entry
A8K171_HUMAN
resolver
uniprot_entry
NRIP1_HUMAN
resolver
uniprot_sec
Q8IWE8
resolver
amino_acid_sequence
MTHGEELGSDVHQDSIVLTYLEGLLMHQAAGGSGTAVDKKSAGHNEEDQNFNISGSAFPTCQSNGPVLNTHTYQGSGMLHLKKARLLQSSEDWNAAKRKRLSDSIMNLNVKKEALLAGMVDSVPKGKQDSTLLASLLQSFSSRLQTVALSQQIRQSLKEQGYALSHDSLKVEKDLRCYGVASSHLKTLLKKSKVKDQKPDTNLPDVTKNLIRDRFAESPHHVGQSGTKVMSEPLSCAARLQAVASMVEKRASPATSPKPSVACSQLALLLSSEAHLQQYSREHALKTQNANQAASERLAAMARLQENGQKDVGSYQLPKGMSSHLNGQARTSSSKLMASKSSATVFQNPMGIIPSSPKNAGYKNSLERNNIKQAANNSLLLHLLKSQTIPKPMNGHSHSERGSIFEESSTPTTIDEYSDNNPSFTDDSSGDESSYSNCVPIDLSCKHRTEKSESDQPVSLDNFTQSLLNTWDPKVPDVDIKEDQDTSKNSKLNSHQKVTLLQLLLGHKNEENVEKNTSPQGVHNDVSKFNTQNYARTSVIESPSTNRTTPVSTPPLLTSSKAGSPINLSQHSLVIKWNSPPYVCSTQSEKLTNTASNHSMDLTKSKDPPGEKPAQNEGAQNSATFSASKLLQNLAQCGMQSSMSVEEQRPSKQLLTGNTDKPIGMIDRLNSPLLSNKTNAVEENKAFSSQPTGPEPGLSGSEIENLLERRTVLQLLLGNPNKGKSEKKEKTPLRDESTQEHSERALSEQILMVKIKSEPCDDLQIPNTNVHLSHDAKSAPFLGMAPAVQRSAPALPVSEDFKSEPVSPQDFSFSKNGLLSRLLRQNQDSYLADDSDRSHRNNEMALLESKNLCMVPKKRKLYTEPLENPFKKMKNNIVDAANNHSAPEVLYGSLLNQEELKFSRNDLEFKYPAGHGSASESEHRSWARESKSFNVLKQLLLSENCVRDLSPHRSNSVADSKKKGHKNNVTNSKPEFSISSLNGLMYSSTQPSSCMDNRTFSYPGVVKTPVSPTFPEHLGCAGSRPESGLLNGCSMPSEKGPIKWVITDAEKNEYEKDSPRLTKTNPILYYMLQKGGNSVTSRETQDKDIWREASSAESVSQVTAKEELLPTAETKASFFNLRSPYNSHMGNNASRPHSANGEVYGLLGSVLTIKKESE
uniprot
proteins
disease_involvement
DISEASE: Congenital anomalies of kidney and urinary tract 3 (CAKUT3) [MIM:618270]: A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children. CAKUT3 inheritance is autosomal dominant. {ECO:0000269|PubMed:28381549, ECO:0000269|PubMed:30143558}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 of BMAL1, CLOCK and CRY1 by acting as a coactivator for RORA and RORC. Involved in the regulation of ovarian function (By similarity). Plays a role in renal development (PubMed:28381549). {ECO:0000250|UniProtKB:Q8CBD1, ECO:0000269|PubMed:10364267, ECO:0000269|PubMed:11509661, ECO:0000269|PubMed:11518808, ECO:0000269|PubMed:12554755, ECO:0000269|PubMed:15060175, ECO:0000269|PubMed:21628546, ECO:0000269|PubMed:28381549, ECO:0000269|PubMed:7641693}.
uniprot
proteins
mass_dalton
126942
uniprot
proteins
mutagenesis
MUTAGEN 440..443; /note="PIDL->AAAA: Abolishes interaction with CTBP1."; /evidence="ECO:0000269|PubMed:11509661"; MUTAGEN 440..442; /note="PID->AIA: Abolishes interaction with CTBP1 and attenuates nuclear hormone receptor-dependent transcription repression."; MUTAGEN 442..443; /note="DL->AA: Reduces, but does not completely abolish, interaction with CTBP. Reduces transcriptional repression."; /evidence="ECO:0000269|PubMed:14736873, ECO:0000269|PubMed:15060175"; MUTAGEN 442..443; /note="DL->AS: Disrupts interaction with CTBP1, and CTBP2 to a lesser extent. Disrupts transcriptional repression; when associated with 567-AS-568."; /evidence="ECO:0000269|PubMed:14736873, ECO:0000269|PubMed:15060175"; MUTAGEN 446; /note="K->Q: Disrupts interaction with CTBP1. Decreases lysine acetylation. Disrupts nuclear hormone receptor-dependent transcription repression."; /evidence="ECO:0000269|PubMed:11509661"; MUTAGEN 446; /note="K->R: Does not disrupt nuclear hormone receptor-dependent transcription repression."; /evidence="ECO:0000269|PubMed:11509661"; MUTAGEN 567..568; /note="NL->AA: Disrupts transcriptional repression."; /evidence="ECO:0000269|PubMed:14736873, ECO:0000269|PubMed:15060175"; MUTAGEN 567..568; /note="NL->AS: Disrupts interaction with CTBP1 and CTBP2. Disrupts transcriptional repression; when associated with 442-AS-443."; /evidence="ECO:0000269|PubMed:14736873, ECO:0000269|PubMed:15060175"; MUTAGEN 599..603; /note="SMDLT->PIAAS: Does not further disrupt transcriptional repression; when associated with 442-AA-443 and 567-AA-568."; MUTAGEN 948..949; /note="DL->AA: Abolishes CTBP binding but retains transcriptional repressor activity."; /evidence="ECO:0000269|PubMed:14736873
uniprot
proteins
post_translational_modification
PTM: Acetylation regulates its nuclear translocation and corepressive activity (By similarity). Acetylation abolishes interaction with CTBP1. Phosphorylation enhances interaction with YWHAH. {ECO:0000250, ECO:0000269|PubMed:11509661}.
uniprot
proteins
pubmed
10364267
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
11266503
uniprot
proteins
pubmed
11509661
uniprot
proteins
pubmed
11518808
uniprot
proteins
pubmed
12554755
uniprot
proteins
pubmed
12773562
uniprot
proteins
pubmed
14736873
uniprot
proteins
pubmed
15060175
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16131398
uniprot
proteins
pubmed
16887930
uniprot
proteins
pubmed
16990259
uniprot
proteins
pubmed
17085477
uniprot
proteins
pubmed
21628546
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28381549
uniprot
proteins
pubmed
30143558
uniprot
proteins
pubmed
7641693
uniprot
proteins
pubmed
9556573
uniprot
proteins
sequence_length
1158
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11266503, ECO:0000269|PubMed:12773562, ECO:0000269|PubMed:15060175, ECO:0000269|PubMed:7641693}. Note=Localized to discrete foci and redistributes to larger nuclear domains upon binding to ligand-bound NR3C1.
uniprot
proteins