SP6
entrez
80320
canonical
uniprot
Q3SY56
canonical
ensembl
ENSG00000189120
resolver
ensp
ENSP00000340799
resolver
ensp
ENSP00000438209
resolver
ensp
ENSP00000607815
resolver
enst
ENST00000342234
resolver
enst
ENST00000536300
resolver
enst
ENST00000937756
resolver
genesymbol
SP6
resolver
genesymbol_syn
KLF14
resolver
hgnc
HGNC:14530
resolver
uniprot
B3KXP2
resolver
uniprot
B3KXS4
resolver
uniprot_entry
B3KXP2_HUMAN
resolver
uniprot_entry
SP6_HUMAN
resolver
uniprot_sec
B3KXS4
resolver
amino_acid_sequence
MLTAVCGSLGSQHTEAPHASPPRLDLQPLQTYQGHTSPEAGDYPSPLQPGELQSLPLGPEVDFSQGYELPGASSRVTCEDLESDSPLAPGPFSKLLQPDMSHHYESWFRPTHPGAEDGSWWDLHPGTSWMDLPHTQGALTSPGHPGALQAGLGGYVGDHQLCAPPPHPHAHHLLPAAGGQHLLGPPDGAKALEVAAPESQGLDSSLDGAARPKGSRRSVPRSSGQTVCRCPNCLEAERLGAPCGPDGGKKKHLHNCHIPGCGKAYAKTSHLKAHLRWHSGDRPFVCNWLFCGKRFTRSDELQRHLQTHTGTKKFPCAVCSRVFMRSDHLAKHMKTHEGAKEEAAGAASGEGKAGGAVEPPGGKGKREAEGSVAPSN
uniprot
proteins
disease_involvement
DISEASE: Amelogenesis imperfecta 1K (AI1K) [MIM:620104]: A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discolored, sensitive or prone to disintegration. AI1K is an autosomal dominant form characterized by hypoplastic enamel in all teeth. {ECO:0000269|PubMed:32167558, ECO:0000269|PubMed:33652941}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Promotes cell proliferation (By similarity). Plays a role in tooth germ growth (By similarity). Plays a role in the control of enamel mineralization. Binds the AMBN promoter (PubMed:32167558). {ECO:0000250|UniProtKB:Q9ESX2, ECO:0000269|PubMed:32167558}.
uniprot
proteins
mass_dalton
39840
uniprot
proteins
protein_family
Sp1 C2H2-type zinc-finger protein family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
31375868
uniprot
proteins
pubmed
32167558
uniprot
proteins
pubmed
33652941
uniprot
proteins
sequence_length
376
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
uniprot
proteins