GMNN
entrez
51053
canonical
uniprot
O75496
canonical
ensembl
ENSG00000112312
resolver
ensp
ENSP00000230056
resolver
ensp
ENSP00000348902
resolver
ensp
ENSP00000367293
resolver
ensp
ENSP00000477506
resolver
ensp
ENSP00000601966
resolver
ensp
ENSP00000601967
resolver
ensp
ENSP00000601969
resolver
ensp
ENSP00000601975
resolver
ensp
ENSP00000601976
resolver
ensp
ENSP00000630489
resolver
enst
ENST00000230056
resolver
enst
ENST00000356509
resolver
enst
ENST00000620958
resolver
enst
ENST00000931907
resolver
enst
ENST00000931908
resolver
enst
ENST00000931910
resolver
enst
ENST00000931916
resolver
enst
ENST00000931917
resolver
enst
ENST00000960430
resolver
genesymbol
GMNN
resolver
hgnc
HGNC:17493
resolver
uniprot
B3KMM8
resolver
uniprot
Q9H1Z1
resolver
uniprot_entry
GEMI_HUMAN
resolver
uniprot_sec
B3KMM8
resolver
uniprot_sec
Q9H1Z1
resolver
amino_acid_sequence
MNPSMKQKQEEIKENIKNSSVPRRTLKMIQPSASGSLVGRENELSAGLSKRKHRNDHLTSTTSSPGVIVPESSENKNLGGVTQESFDLMIKENPSSQYWKEVAEKRRKALYEALKENEKLHKEIEQKDNEIARLKKENKELAEVAEHVQYMAELIERLNGEPLDNFESLDNQEFDSEEETVEDSLVEDSEIGTCAEGTVSSSTDAKPCI
uniprot
proteins
disease_involvement
DISEASE: Meier-Gorlin syndrome 6 (MGORS6) [MIM:616835]: A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269|PubMed:26637980}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Inhibits DNA replication by preventing the incorporation of MCM complex into pre-replication complex (pre-RC) (PubMed:14993212, PubMed:20129055, PubMed:24064211, PubMed:9635433). It is degraded during the mitotic phase of the cell cycle (PubMed:14993212, PubMed:24064211, PubMed:9635433). Its destruction at the metaphase-anaphase transition permits replication in the succeeding cell cycle (PubMed:14993212, PubMed:24064211, PubMed:9635433). Inhibits histone acetyltransferase activity of KAT7/HBO1 in a CDT1-dependent manner, inhibiting histone H4 acetylation and DNA replication licensing (PubMed:20129055). Inhibits the transcriptional activity of a subset of Hox proteins, enrolling them in cell proliferative control (PubMed:22615398). {ECO:0000269|PubMed:14993212, ECO:0000269|PubMed:20129055, ECO:0000269|PubMed:22615398, ECO:0000269|PubMed:24064211, ECO:0000269|PubMed:9635433}.
uniprot
proteins
mass_dalton
23565
uniprot
proteins
post_translational_modification
PTM: Phosphorylated during mitosis. Phosphorylation at Ser-184 by CK2 results in enhanced binding to Hox proteins and more potent inhibitory effect on Hox transcriptional activity. {ECO:0000269|PubMed:22615398, ECO:0000269|PubMed:22645314}.
uniprot
proteins
protein_family
Geminin family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14993212
uniprot
proteins
pubmed
15260975
uniprot
proteins
pubmed
15313623
uniprot
proteins
pubmed
15378034
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19906994
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20129055
uniprot
proteins
pubmed
21543332
uniprot
proteins
pubmed
22615398
uniprot
proteins
pubmed
22645314
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24064211
uniprot
proteins
pubmed
26637980
uniprot
proteins
pubmed
9635433
uniprot
proteins
sequence_length
209
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21543332}. Nucleus {ECO:0000269|PubMed:21543332}. Note=Mainly cytoplasmic but can be relocalized to the nucleus. {ECO:0000269|PubMed:21543332}.
uniprot
proteins