SP110
entrez
3431
canonical
uniprot
Q9HB58
canonical
ensembl
ENSG00000135899
resolver
ensp
ENSP00000258381
resolver
ensp
ENSP00000258382
resolver
ensp
ENSP00000351488
resolver
ensp
ENSP00000439558
resolver
ensp
ENSP00000513564
resolver
ensp
ENSP00000567384
resolver
ensp
ENSP00000567385
resolver
ensp
ENSP00000689325
resolver
enst
ENST00000698100
resolver
enst
ENST00000897326
resolver
genesymbol
SP110
resolver
hgnc
HGNC:5401
resolver
uniprot
A0A8V8TN67
resolver
uniprot
B4DVI4
resolver
uniprot
F5H1M1
resolver
uniprot
Q14976
resolver
uniprot
Q14977
resolver
uniprot
Q53TG2
resolver
uniprot
Q8WUZ6
resolver
uniprot
Q9HCT8
resolver
uniprot_entry
A0A8V8TN67_HUMAN
resolver
uniprot_entry
SP110_HUMAN
resolver
uniprot_sec
B4DVI4
resolver
uniprot_sec
F5H1M1
resolver
uniprot_sec
Q14976
resolver
uniprot_sec
Q14977
resolver
uniprot_sec
Q53TG2
resolver
uniprot_sec
Q8WUZ6
resolver
uniprot_sec
Q9HCT8
resolver
amino_acid_sequence
MFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLERTFNLSLLVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCSPCAPRVSEPGTSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRDKEDPQEMPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGGTASSRHGIQKKLKRVDQVPQKKDDSTCNSTVETRAQKARTECARKSRSEEIIDGTSEMNEGKRSQKTPSTPRRVTQGAASPGHGIQEKLQVVDKVTQRKDDSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQKNIHRRGKPKSDTVDFHCSKLPVTCGEAKGILYKKKMKHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTLGELLKRKNSDECEVCCQGGQLLCCGTCPRVFHEDCHIPPVEAKRMLWSCTFCRMKRSSGSQQCHHVSKTLERQMQPQDQLIRDYGEPFQEAMWLDLVKERLITEMYTVAWFVRDMRLMFRNHKTFYKASDFGQVGLDLEAEFEKDLKDVLGFHEANDGGFWTLP
uniprot
proteins
disease_involvement
DISEASE: Hepatic venoocclusive disease with immunodeficiency (VODI) [MIM:235550]: Autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. The immunodeficiency is characterized by severe hypogammaglobulinemia, combined T and B-cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells. {ECO:0000269|PubMed:16648851}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE).
uniprot
proteins
mass_dalton
78396
uniprot
proteins
post_translational_modification
PTM: Phosphorylated (isoform 2).
uniprot
proteins
pubmed
10913195
uniprot
proteins
pubmed
14559998
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16648851
uniprot
proteins
pubmed
16803959
uniprot
proteins
pubmed
16816019
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19367720
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25593309
uniprot
proteins
pubmed
7693701
uniprot
proteins
sequence_length
689
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00185, ECO:0000255|PROSITE-ProRule:PRU00747, ECO:0000269|PubMed:10913195, ECO:0000269|PubMed:25593309}. Note=Found in the nuclear body. {ECO:0000269|PubMed:10913195}.
uniprot
proteins