SP7
entrez
121340
canonical
uniprot
Q8TDD2
canonical
ensembl
ENSG00000170374
resolver
ensembl
ENSG00000291837
resolver
ensp
ENSP00000302812
resolver
ensp
ENSP00000441367
resolver
ensp
ENSP00000443827
resolver
genesymbol
SP7
resolver
genesymbol_syn
OSX
resolver
hgnc
HGNC:17321
resolver
uniprot
B3KY26
resolver
uniprot
Q3MJ72
resolver
uniprot
Q7Z718
resolver
uniprot_entry
SP7_HUMAN
resolver
uniprot_sec
B3KY26
resolver
uniprot_sec
Q3MJ72
resolver
uniprot_sec
Q7Z718
resolver
amino_acid_sequence
MASSLLEEEVHYGSSPLAMLTAACSKFGGSSPLRDSTTLGKAGTKKPYSVGSDLSASKTMGDAYPAPFTSTNGLLSPAGSPPAPTSGYANDYPPFSHSFPGPTGTQDPGLLVPKGHSSSDCLPSVYTSLDMTHPYGSWYKAGIHAGISPGPGNTPTPWWDMHPGGNWLGGGQGQGDGLQGTLPTGPAQPPLNPQLPTYPSDFAPLNPAPYPAPHLLQPGPQHVLPQDVYKPKAVGNSGQLEGSGGAKPPRGASTGGSGGYGGSGAGRSSCDCPNCQELERLGAAAAGLRKKPIHSCHIPGCGKVYGKASHLKAHLRWHTGERPFVCNWLFCGKRFTRSDELERHVRTHTREKKFTCLLCSKRFTRSDHLSKHQRTHGEPGPGPPPSGPKELGEGRSTGEEEASQTPRPSASPATPEKAPGGSPEQSNLLEI
uniprot
proteins
disease_involvement
DISEASE: Osteogenesis imperfecta 12 (OI12) [MIM:613849]: A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI12 is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae. {ECO:0000269|PubMed:20579626}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional activator essential for osteoblast differentiation (PubMed:23457570). Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences (By similarity). {ECO:0000250|UniProtKB:Q8VI67, ECO:0000269|PubMed:23457570}.
uniprot
proteins
mass_dalton
44994
uniprot
proteins
mutagenesis
MUTAGEN 58; /note="K->R: Enhances osteogenic differentiation in C2C12 cells."; /evidence="ECO:0000269|PubMed:23457570"; MUTAGEN 230; /note="K->R: Enhances osteogenic differentiation in C2C12 cells."; /evidence="ECO:0000269|PubMed:23457570
uniprot
proteins
post_translational_modification
PTM: Ubiquitination at leads to proteasomal degradation. SP7 is a short-live protein with an endogenous half-life of approximately 12 hours. {ECO:0000269|PubMed:23457570}.; PTM: Propionylated. Depropionylation at Lys-371 by SIRT7 activates transcription factor activity and positively regulates bone formation by osteoblasts. {ECO:0000250|UniProtKB:Q8VI67}.
uniprot
proteins
protein_family
Sp1 C2H2-type zinc-finger protein family
uniprot
proteins
pubmed
11792318
uniprot
proteins
pubmed
14604442
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15474293
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
20579626
uniprot
proteins
pubmed
23457570
uniprot
proteins
pubmed
31375868
uniprot
proteins
sequence_length
431
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8VI67}.
uniprot
proteins