SPIN4
entrez
139886
canonical
uniprot
Q56A73
canonical
ensembl
ENSG00000186767
resolver
ensp
ENSP00000364018
resolver
enst
ENST00000374884
resolver
genesymbol
SPIN4
resolver
hgnc
HGNC:27040
resolver
uniprot
B3KX90
resolver
uniprot
Q5JUL2
resolver
uniprot_entry
SPIN4_HUMAN
resolver
uniprot_sec
B3KX90
resolver
uniprot_sec
Q5JUL2
resolver
amino_acid_sequence
MSPPTVPPMGVDGVSAYLMKKRHTHRKQRRKPTFLTRRNIVGCRIQHGWKEGNEPVEQWKGTVLEQVSVKPTLYIIKYDGKDSVYGLELHRDKRVLALEILPERVPTPRIDSRLADSLIGKAVEHVFEGEHGTKDEWKGMVLARAPVMDTWFYITYEKDPVLYMYTLLDDYKDGDLRIIPDSNYYFPTAEQEPGEVVDSLVGKQVEHAKDDGSKRTGIFIHQVVAKPSVYFIKFDDDIHIYVYGLVKTP
uniprot
proteins
disease_involvement
DISEASE: Lui-Jee-Baron syndrome (LJBS) [MIM:301114]: An X-linked disorder characterized by prenatal onset, generalized overgrowth, extreme tall stature, enlarged liver and spleen, macrocephaly, dysmorphic features, and normal development. Hemizygous males are more severely affected than heterozygous females. {ECO:0000269|PubMed:36927955}. Note=The disease may be caused by variants affecting the gene represented in this entry. A variant causing frameshift and truncation of the SPIN4 protein has been found in one family with Lui-Jee-Baron syndrome. In mice, SPIN4 truncating mutations result in features recapitulating the human disease, including generalized overgrowth and increased longitudinal bone growth. Growth plate analysis of mutant mice reveales increased cell proliferation in the proliferative zone and an increased number of progenitor chondrocytes in the resting zone. {ECO:0000269|PubMed:36927955}.
uniprot
proteins
function
FUNCTION: Binds to acetylated and methylated histones, including H3K4me3 and H4K20me3, probably acting as a histone reader that recognizes chromatin marks and mediates downstream cellular effects (PubMed:29061846, PubMed:36927955). Promotes canonical WNT signaling, and is involved in the down-regulation of cell proliferation (PubMed:36927955). {ECO:0000269|PubMed:29061846, ECO:0000269|PubMed:36927955}.
uniprot
proteins
mass_dalton
28660
uniprot
proteins
protein_family
SPIN/STSY family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
29061846
uniprot
proteins
pubmed
36927955
uniprot
proteins
sequence_length
249
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:36927955}. Nucleus {ECO:0000269|PubMed:36927955}.
uniprot
proteins