GEMC1_HUMAN
ID GEMC1_HUMAN Reviewed; 334 AA.
AC A6NCL1;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 02-SEP-2008, sequence version 2.
DT 03-AUG-2022, entry version 97.
DE RecName: Full=Geminin coiled-coil domain-containing protein 1;
GN Name=GMNC; Synonyms=GEMC1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
CC -!- FUNCTION: Regulator of DNA replication. Promotes initiation of
CC chromosomal DNA replication by mediating TOPBP1- and CDK2-dependent
CC recruitment of CDC45L onto replication origins (By similarity).
CC {ECO:0000250}.
CC -!- INTERACTION:
CC A6NCL1; P24864: CCNE1; NbExp=3; IntAct=EBI-18587381, EBI-519526;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=Associates with
CC chromatin during pre-replication complex (pre-RC) formation.
CC {ECO:0000250}.
CC -!- PTM: Highly phosphorylated by CDK2; stimulates initiation of DNA
CC replication. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the GEMC1 family. {ECO:0000305}.
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DR EMBL; AC092952; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS54697.1; -.
DR RefSeq; NP_001140158.1; NM_001146686.2.
DR PDB; 5C9N; X-ray; 2.20 A; A/B=64-148.
DR PDBsum; 5C9N; -.
DR AlphaFoldDB; A6NCL1; -.
DR SMR; A6NCL1; -.
DR BioGRID; 572083; 2.
DR IntAct; A6NCL1; 1.
DR STRING; 9606.ENSP00000406164; -.
DR iPTMnet; A6NCL1; -.
DR PhosphoSitePlus; A6NCL1; -.
DR BioMuta; GMNC; -.
DR PaxDb; A6NCL1; -.
DR PeptideAtlas; A6NCL1; -.
DR PRIDE; A6NCL1; -.
DR ProteomicsDB; 842; -.
DR Antibodypedia; 49140; 65 antibodies from 18 providers.
DR DNASU; 647309; -.
DR Ensembl; ENST00000442080.6; ENSP00000406164.1; ENSG00000205835.9.
DR GeneID; 647309; -.
DR KEGG; hsa:647309; -.
DR MANE-Select; ENST00000442080.6; ENSP00000406164.1; NM_001146686.3; NP_001140158.1.
DR UCSC; uc011bsl.2; human.
DR CTD; 647309; -.
DR DisGeNET; 647309; -.
DR GeneCards; GMNC; -.
DR HGNC; HGNC:40049; GMNC.
DR HPA; ENSG00000205835; Tissue enhanced (brain, fallopian tube, liver).
DR MIM; 614448; gene.
DR neXtProt; NX_A6NCL1; -.
DR OpenTargets; ENSG00000205835; -.
DR VEuPathDB; HostDB:ENSG00000205835; -.
DR eggNOG; ENOG502RE7T; Eukaryota.
DR GeneTree; ENSGT00940000153270; -.
DR HOGENOM; CLU_071972_0_0_1; -.
DR InParanoid; A6NCL1; -.
DR OMA; NIPREDM; -.
DR OrthoDB; 966768at2759; -.
DR PhylomeDB; A6NCL1; -.
DR TreeFam; TF344118; -.
DR PathwayCommons; A6NCL1; -.
DR SignaLink; A6NCL1; -.
DR BioGRID-ORCS; 647309; 8 hits in 1067 CRISPR screens.
DR GenomeRNAi; 647309; -.
DR Pharos; A6NCL1; Tbio.
DR PRO; PR:A6NCL1; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; A6NCL1; protein.
DR Bgee; ENSG00000205835; Expressed in right uterine tube and 52 other tissues.
DR ExpressionAtlas; A6NCL1; baseline and differential.
DR Genevisible; A6NCL1; HS.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0003682; F:chromatin binding; ISS:UniProtKB.
DR GO; GO:0007049; P:cell cycle; IEA:UniProtKB-KW.
DR GO; GO:0060271; P:cilium assembly; IEA:Ensembl.
DR GO; GO:0006270; P:DNA replication initiation; IEA:InterPro.
DR GO; GO:0045786; P:negative regulation of cell cycle; IBA:GO_Central.
DR GO; GO:0008156; P:negative regulation of DNA replication; IBA:GO_Central.
DR InterPro; IPR029700; GEMC1.
DR PANTHER; PTHR13372:SF2; PTHR13372:SF2; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Cell cycle; Coiled coil; DNA replication; Nucleus;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1..334
FT /note="Geminin coiled-coil domain-containing protein 1"
FT /id="PRO_0000346425"
FT REGION 143..167
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 82..119
FT /evidence="ECO:0000255"
FT HELIX 70..130
FT /evidence="ECO:0007829|PDB:5C9N"
SQ SEQUENCE 334 AA; 37887 MW; 4D6370B1E25DCA40 CRC64;
MNTILPCQDQ YFVGGQSYNC PYSTTTSESS VDVSTETWVS FWAAGLLDNR ELQQAPQAQE
SFSDSNFPLP DLCSWEEAQL SSQLYRNKQL QDTLVQKEEE LARLHEENNH LRQYLNSALV
KCLEEKAKKL LSSDEFSKAY GKFRKGKRKS KEQRYSPAEI PHPKNAKRNL SSEFANCEEQ
AGPPVDPWVL QTLGLKDLDT IDDTSSANYS ALASHPRRVA STFSQFPDDA VDYKNIPRED
MPIDYRGDRT TPLHSTATHG EDFHILSQLS NPPVGLKTLP YYTAHVSPNK TEMAFSTSLS
PHCNVKTHSF HQGQAFVRRD EEGGWKFTWV PKQS
