PPP1R13L
entrez
10848
canonical
uniprot
Q8WUF5
canonical
ensembl
ENSG00000104881
resolver
ensp
ENSP00000354218
resolver
ensp
ENSP00000403902
resolver
ensp
ENSP00000533798
resolver
ensp
ENSP00000533799
resolver
ensp
ENSP00000533800
resolver
ensp
ENSP00000533801
resolver
ensp
ENSP00000533802
resolver
ensp
ENSP00000533803
resolver
enst
ENST00000360957
resolver
enst
ENST00000418234
resolver
enst
ENST00000863739
resolver
enst
ENST00000863740
resolver
enst
ENST00000863741
resolver
enst
ENST00000863742
resolver
enst
ENST00000863743
resolver
enst
ENST00000863744
resolver
genesymbol
PPP1R13L
resolver
genesymbol_syn
IASPP
resolver
genesymbol_syn
NKIP1
resolver
genesymbol_syn
PPP1R13BL
resolver
genesymbol_syn
RAI
resolver
hgnc
HGNC:18838
resolver
uniprot
Q2PNZ9
resolver
uniprot
Q5DU71
resolver
uniprot
Q5I1X4
resolver
uniprot
Q6P1R7
resolver
uniprot
Q6PKF8
resolver
uniprot
Q9Y290
resolver
uniprot_entry
IASPP_HUMAN
resolver
uniprot_sec
Q2PNZ9
resolver
uniprot_sec
Q5DU71
resolver
uniprot_sec
Q5I1X4
resolver
uniprot_sec
Q6P1R7
resolver
uniprot_sec
Q6PKF8
resolver
uniprot_sec
Q9Y290
resolver
amino_acid_sequence
MDSEAFQSARDFLDMNFQSLAMKHMDLKQMELDTAAAKVDELTKQLESLWSDSPAPPGPQAGPPSRPPRYSSSSIPEPFGSRGSPRKAATDGADTPFGRSESAPTLHPYSPLSPKGRPSSPRTPLYLQPDAYGSLDRATSPRPRAFDGAGSSLGRAPSPRPGPGPLRQQGPPTPFDFLGRAGSPRGSPLAEGPQAFFPERGPSPRPPATAYDAPASAFGSSLLGSGGSAFAPPLRAQDDLTLRRRPPKAWNESDLDVAYEKKPSQTASYERLDVFARPASPSLQLLPWRESSLDGLGGTGKDNLTSATLPRNYKVSPLASDRRSDAGSYRRSLGSAGPSGTLPRSWQPVSRIPMPPSSPQPRGAPRQRPIPLSMIFKLQNAFWEHGASRAMLPGSPLFTRAPPPKLQPQPQPQPQPQSQPQPQLPPQPQTQPQTPTPAPQHPQQTWPPVNEGPPKPPTELEPEPEIEGLLTPVLEAGDVDEGPVARPLSPTRLQPALPPEAQSVPELEEVARVLAEIPRPLKRRGSMEQAPAVALPPTHKKQYQQIISRLFHRHGGPGPGGPEPELSPITEGSEARAGPPAPAPPAPIPPPAPSQSSPPEQPQSMEMRSVLRKAGSPRKARRARLNPLVLLLDAALTGELEVVQQAVKEMNDPSQPNEEGITALHNAICGANYSIVDFLITAGANVNSPDSHGWTPLHCAASCNDTVICMALVQHGAAIFATTLSDGATAFEKCDPYREGYADCATYLADVEQSMGLMNSGAVYALWDYSAEFGDELSFREGESVTVLRRDGPEETDWWWAALHGQEGYVPRNYFGLFPRVKPQRSKV
uniprot
proteins
disease_involvement
DISEASE: Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities (ARCME) [MIM:620519]: An autosomal recessive disorder characterized by life-threatening dilated cardiomyopathy in early childhood, with or without features of inflammation on cardiac histology. There is also a variably expressed ectodermal phenotype, including wooly or wiry hair, wedged teeth, xerotic skin, and dystrophic nails. Cleft lip and palate and corneal abnormalities have also been observed. {ECO:0000269|PubMed:28069640, ECO:0000269|PubMed:32666529, ECO:0000269|PubMed:35924320, ECO:0000269|PubMed:35933355}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulator that plays a central role in regulation of apoptosis and transcription via its interaction with NF-kappa-B and p53/TP53 proteins. Blocks transcription of HIV-1 virus by inhibiting the action of both NF-kappa-B and SP1. Also inhibits p53/TP53 function, possibly by preventing the association between p53/TP53 and ASPP1 or ASPP2, and therefore suppressing the subsequent activation of apoptosis (PubMed:12524540). Is involved in NF-kappa-B dependent negative regulation of inflammatory response (PubMed:28069640). {ECO:0000269|PubMed:10336463, ECO:0000269|PubMed:12134007, ECO:0000269|PubMed:12524540, ECO:0000269|PubMed:15489900, ECO:0000269|PubMed:28069640}.
uniprot
proteins
mass_dalton
89091
uniprot
proteins
protein_family
IASPP family
uniprot
proteins
pubmed
10336463
uniprot
proteins
pubmed
12134007
uniprot
proteins
pubmed
12524540
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15489900
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18275817
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28069640
uniprot
proteins
pubmed
32666529
uniprot
proteins
pubmed
35924320
uniprot
proteins
pubmed
35933355
uniprot
proteins
sequence_length
828
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15489900}. Nucleus {ECO:0000269|PubMed:10336463, ECO:0000269|PubMed:15489900}. Note=Predominantly cytoplasmic but also nuclear. {ECO:0000269|PubMed:15489900}.
uniprot
proteins