GZF1
entrez
64412
canonical
uniprot
Q9H116
canonical
ensembl
ENSG00000125812
resolver
ensp
ENSP00000338290
resolver
ensp
ENSP00000366250
resolver
ensp
ENSP00000585689
resolver
ensp
ENSP00000789486
resolver
ensp
ENSP00000789487
resolver
genesymbol
GZF1
resolver
genesymbol_syn
ZBTB23
resolver
genesymbol_syn
ZNF336
resolver
hgnc
HGNC:15808
resolver
uniprot
A8K199
resolver
uniprot
B2RBC3
resolver
uniprot
B3KPL4
resolver
uniprot
B4DF58
resolver
uniprot
D3DW39
resolver
uniprot
Q54A22
resolver
uniprot
Q96N08
resolver
uniprot
Q9BQK9
resolver
uniprot
Q9H117
resolver
uniprot
Q9H6W6
resolver
uniprot_entry
GZF1_HUMAN
resolver
uniprot_sec
A8K199
resolver
uniprot_sec
B2RBC3
resolver
uniprot_sec
B3KPL4
resolver
uniprot_sec
B4DF58
resolver
uniprot_sec
D3DW39
resolver
uniprot_sec
Q54A22
resolver
uniprot_sec
Q96N08
resolver
uniprot_sec
Q9BQK9
resolver
uniprot_sec
Q9H117
resolver
uniprot_sec
Q9H6W6
resolver
amino_acid_sequence
MESGAVLLESKSSPFNLLHEMHELRLLGHLCDVTVSVEYQGVRKDFMAHKAVLAATSKFFKEVFLNEKSVDGTRTNVYLNEVQVADFASFLEFVYTAKVQVEEDRVQRMLEVAEKLKCLDLSETCFQLKKQMLESVLLELQNFSESQEVEVSSGSQVSAAPAPRASVATDGPHPSGLTDSLDYPGERASNGMSSDLPPKKSKDKLDKKKEVVKPPYPKIRRASGRLAGRKVFVEIPKKKYTRRLREQQKTAEGDVGDYRCPQDQSPDRVGTEMEQVSKNEGCQAGAELEELSKKAGPEEEEEEEEEDEEGEKKKSNFKCSICEKAFLYEKSFLKHSKHRHGVATEVVYRCDTCGQTFANRCNLKSHQRHVHSSERHFPCELCGKKFKRKKDVKRHVLQVHEGGGERHRCGQCGKGLSSKTALRLHERTHTGDRPYGCTECGARFSQPSALKTHMRIHTGEKPFVCDECGARFTQNHMLIYHKRCHTGERPFMCETCGKSFASKEYLKHHNRIHTGSKPFKCEVCFRTFAQRNSLYQHIKVHTGERPYCCDQCGKQFTQLNALQRHRRIHTGERPFMCNACGRTFTDKSTLRRHTSIHDKNTPWKSFLVIVDGSPKNDDGHKTEQPDEEYVSSKLSDKLLSFAENGHFHNLAAVQDTVPTMQENSSADTACKADDSVVSQDTLLATTISELSELTPQTDSMPTQLHSLSNME
uniprot
proteins
disease_involvement
DISEASE: Joint laxity, short stature, and myopia (JLSM) [MIM:617662]: An autosomal recessive disease characterized by generalized joint laxity, joint dislocation, pectus carinatum, short stature, and severe myopia with retinal detachment. {ECO:0000269|PubMed:28475863}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional repressor that binds the GZF1 responsive element (GRE) (consensus: 5'-TGCGCN[TG][CA]TATA-3'). May be regulating VSX2/HOX10 expression. {ECO:0000269|PubMed:14522971, ECO:0000269|PubMed:16049025}.
uniprot
proteins
mass_dalton
80492
uniprot
proteins
mutagenesis
MUTAGEN 32; /note="D->N: Decreased repression activity."; /evidence="ECO:0000269|PubMed:14522971"; MUTAGEN 50; /note="K->D: Decreased repression activity."; /evidence="ECO:0000269|PubMed:14522971
uniprot
proteins
protein_family
Krueppel C2H2-type zinc-finger protein family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14522971
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
16049025
uniprot
proteins
pubmed
17674968
uniprot
proteins
pubmed
21248752
uniprot
proteins
pubmed
28475863
uniprot
proteins
sequence_length
711
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14522971}. Nucleus, nucleoplasm {ECO:0000269|PubMed:14522971, ECO:0000269|PubMed:17674968}. Nucleus, nucleolus {ECO:0000269|PubMed:17674968}. Note=Nuclear localization depends upon NCL. {ECO:0000269|PubMed:17674968}.
uniprot
proteins