IVNS1ABP
entrez
10625
canonical
uniprot
Q9Y6Y0
canonical
ensembl
ENSG00000116679
resolver
ensp
ENSP00000356468
resolver
ensp
ENSP00000520813
resolver
ensp
ENSP00000536870
resolver
ensp
ENSP00000536873
resolver
ensp
ENSP00000536874
resolver
ensp
ENSP00000536875
resolver
ensp
ENSP00000536879
resolver
ensp
ENSP00000592329
resolver
ensp
ENSP00000627536
resolver
enst
ENST00000367498
resolver
enst
ENST00000718429
resolver
enst
ENST00000866811
resolver
enst
ENST00000866814
resolver
enst
ENST00000866815
resolver
enst
ENST00000866816
resolver
enst
ENST00000866820
resolver
enst
ENST00000922270
resolver
enst
ENST00000957477
resolver
genesymbol
IVNS1ABP
resolver
genesymbol_syn
ARA3
resolver
genesymbol_syn
FLARA3
resolver
genesymbol_syn
KIAA0850
resolver
genesymbol_syn
KLHL39
resolver
genesymbol_syn
NS1
resolver
genesymbol_syn
NS1BP
resolver
hgnc
HGNC:16951
resolver
uniprot
A8K8R6
resolver
uniprot
Q1G4T6
resolver
uniprot
Q1G4T7
resolver
uniprot
Q5TF75
resolver
uniprot
Q6NW38
resolver
uniprot
Q7LCG2
resolver
uniprot
Q9NZX0
resolver
uniprot
Q9Y480
resolver
uniprot_entry
NS1BP_HUMAN
resolver
uniprot_sec
A8K8R6
resolver
uniprot_sec
Q1G4T6
resolver
uniprot_sec
Q1G4T7
resolver
uniprot_sec
Q5TF75
resolver
uniprot_sec
Q6NW38
resolver
uniprot_sec
Q7LCG2
resolver
uniprot_sec
Q9NZX0
resolver
uniprot_sec
Q9Y480
resolver
amino_acid_sequence
MIPNGYLMFEDENFIESSVAKLNALRKSGQFCDVRLQVCGHEMLAHRAVLACCSPYLFEIFNSDSDPHGISHVKFDDLNPEAVEVLLNYAYTAQLKADKELVKDVYSAAKKLKMDRVKQVCGDYLLSRMDVTSCISYRNFASCMGDSRLLNKVDAYIQEHLLQISEEEEFLKLPRLKLEVMLEDNVCLPSNGKLYTKVINWVQRSIWENGDSLEELMEEVQTLYYSADHKLLDGNLLDGQAEVFGSDDDHIQFVQKKPPRENGHKQISSSSTGCLSSPNATVQSPKHEWKIVASEKTSNNTYLCLAVLDGIFCVIFLHGRNSPQSSPTSTPKLSKSLSFEMQQDELIEKPMSPMQYARSGLGTAEMNGKLIAAGGYNREECLRTVECYNPHTDHWSFLAPMRTPRARFQMAVLMGQLYVVGGSNGHSDDLSCGEMYDSNIDDWIPVPELRTNRCNAGVCALNGKLYIVGGSDPYGQKGLKNCDVFDPVTKLWTSCAPLNIRRHQSAVCELGGYLYIIGGAESWNCLNTVERYNPENNTWTLIAPMNVARRGAGVAVLNGKLFVCGGFDGSHAISCVEMYDPTRNEWKMMGNMTSPRSNAGIATVGNTIYAVGGFDGNEFLNTVEVYNLESNEWSPYTKIFQF
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 70 (IMD70) [MIM:618969]: A primary immunodeficiency clinically characterized by human papillomavirus-associated warts on the hands, feet and face, recurrent bacterial infections, and autoinflammatory features, such as colitis, celiac disease, and retinal vasculitis. Immunologic workup shows decreased CD4+ T cells, decreased CD19+ B cells, and hypogammaglobulinemia. IMD70 inheritance is autosomal dominant with incomplete penetrance. {ECO:0000269|PubMed:32499645}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in many cell functions, including pre-mRNA splicing, the aryl hydrocarbon receptor (AHR) pathway, F-actin organization and protein ubiquitination. Plays a role in the dynamic organization of the actin skeleton as a stabilizer of actin filaments by association with F-actin through Kelch repeats (By similarity). Protects cells from cell death induced by actin destabilization (By similarity). Functions as modifier of the AHR/Aryl hydrocarbon receptor pathway increasing the concentration of AHR available to activate transcription (PubMed:16582008). In addition, functions as a negative regulator of BCR(KLHL20) E3 ubiquitin ligase complex to prevent ubiquitin-mediated proteolysis of PML and DAPK1, two tumor suppressors (PubMed:25619834). Inhibits pre-mRNA splicing (in vitro) (PubMed:9696811). May play a role in mRNA nuclear export (PubMed:30538201). {ECO:0000250|UniProtKB:Q920Q8, ECO:0000269|PubMed:16582008, ECO:0000269|PubMed:25619834, ECO:0000269|PubMed:30538201, ECO:0000269|PubMed:9696811}.; FUNCTION: (Microbial infection) Involved in the alternative splicing of influenza A virus M1 mRNA through interaction with HNRNPK, thereby facilitating the generation of viral M2 protein (PubMed:23825951, PubMed:9696811). The BTB and Kelch domains are required for splicing activity (PubMed:30538201). Promotes export of viral M mRNA and RNP via its interaction with mRNA export factor ALYREF (PubMed:30538201). {ECO:0000269|PubMed:23825951, ECO:0000269|PubMed:30538201, ECO:0000269|PubMed:9696811}.
uniprot
proteins
mass_dalton
71729
uniprot
proteins
mutagenesis
MUTAGEN 1..12; /note="Missing: Destabilises dimer and impairs splicing of viral M1 mRNA."; /evidence="ECO:0000269|PubMed:30538201"; MUTAGEN 198; /note="V->M: Significant inhibition of interaction with AHR; partial decrease of AHR signaling induced by IVNS1ABP."; /evidence="ECO:0000269|PubMed:16582008"; MUTAGEN 288; /note="E->K: Significant inhibition of interaction with AHR; partial decrease of AHR signaling induced by IVNS1ABP."; /evidence="ECO:0000269|PubMed:16582008
uniprot
proteins
protein_family
BTB-kelch protein family
uniprot
proteins
pubmed
10048485
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16582008
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23825951
uniprot
proteins
pubmed
25619834
uniprot
proteins
pubmed
29497022
uniprot
proteins
pubmed
30538201
uniprot
proteins
pubmed
32499645
uniprot
proteins
pubmed
9696811
uniprot
proteins
sequence_length
642
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9696811}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:9696811}. Nucleus, nucleoplasm {ECO:0000269|PubMed:9696811}. Note=Associated with actin filaments (By similarity). Localization related to speckle domains which correspond to interchromatin granules and are enriched in factors involved in pre-mRNA splicing (PubMed:9696811). Following influenza A virus infection, redistribution from speckles to a more diffuse distribution in the nucleoplasm (PubMed:9696811). {ECO:0000250|UniProtKB:Q920Q8, ECO:0000269|PubMed:9696811}.
uniprot
proteins