Full text data of GINS1
GINS1
(KIAA0186, PSF1)
[Confidence: low (only semi-automatic identification from reviews)]
DNA replication complex GINS protein PSF1 (GINS complex subunit 1)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
DNA replication complex GINS protein PSF1 (GINS complex subunit 1)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
Q14691
ID PSF1_HUMAN Reviewed; 196 AA.
AC Q14691; Q9NQE2; Q9NQI7;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-NOV-1996, sequence version 1.
DT 22-JAN-2014, entry version 124.
DE RecName: Full=DNA replication complex GINS protein PSF1;
DE AltName: Full=GINS complex subunit 1;
GN Name=GINS1; Synonyms=KIAA0186, PSF1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Bone marrow;
RX PubMed=8724849; DOI=10.1093/dnares/3.1.17;
RA Nagase T., Seki N., Ishikawa K., Tanaka A., Nomura N.;
RT "Prediction of the coding sequences of unidentified human genes. V.
RT The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by
RT analysis of cDNA clones from human cell line KG-1.";
RL DNA Res. 3:17-24(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M.,
RA Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J.,
RA Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M.,
RA Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R.,
RA Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M.,
RA Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H.,
RA Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S.,
RA Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E.,
RA Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A.,
RA Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M.,
RA Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A.,
RA Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S.,
RA Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ILE-97.
RC TISSUE=Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP INDUCTION.
RX PubMed=17611626; DOI=10.1371/journal.pone.0000594;
RA Ryu B., Kim D.S., Deluca A.M., Alani R.M.;
RT "Comprehensive expression profiling of tumor cell lines identifies
RT molecular signatures of melanoma progression.";
RL PLoS ONE 2:E594-E594(2007).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [7]
RP STRUCTURE BY ELECTRON MICROSCOPY (33 ANGSTROMS) IN COMPLEX WITH GINS2;
RP GINS3 AND GINS4, SUBUNIT, AND MASS SPECTROMETRY OF GINS COMPLEX.
RX PubMed=17557111; DOI=10.1038/sj.embor.7401002;
RA Boskovic J., Coloma J., Aparicio T., Zhou M., Robinson C.V.,
RA Mendez J., Montoya G.;
RT "Molecular architecture of the human GINS complex.";
RL EMBO Rep. 8:678-684(2007).
RN [8]
RP X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 1-151 IN COMPLEX WITH GINS2;
RP GINS3 AND GINS4, AND SUBUNIT.
RX PubMed=17545466; DOI=10.1101/gad.1548107;
RA Choi J.M., Lim H.S., Kim J.J., Song O.K., Cho Y.;
RT "Crystal structure of the human GINS complex.";
RL Genes Dev. 21:1316-1321(2007).
RN [9]
RP FUNCTION, X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 1-149 IN COMPLEX
RP WITH GINS2; GINS3 AND GINS4, AND SUBUNIT.
RX PubMed=17417653; DOI=10.1038/nsmb1231;
RA Kamada K., Kubota Y., Arata T., Shindo Y., Hanaoka F.;
RT "Structure of the human GINS complex and its assembly and functional
RT interface in replication initiation.";
RL Nat. Struct. Mol. Biol. 14:388-396(2007).
RN [10]
RP X-RAY CRYSTALLOGRAPHY (2.36 ANGSTROMS) IN COMPLEX WITH GINS2; GINS3
RP AND GINS4, SUBUNIT, AND REGION.
RX PubMed=17652513; DOI=10.1073/pnas.0705558104;
RA Chang Y.P., Wang G., Bermudez V., Hurwitz J., Chen X.S.;
RT "Crystal structure of the GINS complex and functional insights into
RT its role in DNA replication.";
RL Proc. Natl. Acad. Sci. U.S.A. 104:12685-12690(2007).
CC -!- FUNCTION: The GINS complex plays an essential role in the
CC initiation of DNA replication, and progression of DNA replication
CC forks. GINS complex seems to bind preferentially to single-
CC stranded DNA. GINS1 is essential for function.
CC -!- SUBUNIT: Component of the GINS complex which is a heterotetramer
CC of GINS1, GINS2, GINS3 and GINS4. Forms a stable subcomplex with
CC GINS4. GINS complex interacts with DNA primase in vitro.
CC -!- SUBCELLULAR LOCATION: Nucleus (By similarity).
CC -!- INDUCTION: Significantly up-regulated in aggressive melanomas.
CC -!- MASS SPECTROMETRY: Mass=98373; Mass_error=13; Method=Electrospray;
CC Range=1-196; Note=This is the measured mass for the GINS complex;
CC Source=PubMed:17557111;
CC -!- SIMILARITY: Belongs to the GINS1/PSF1 family.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA11503.2; Type=Erroneous initiation;
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; D80008; BAA11503.2; ALT_INIT; mRNA.
DR EMBL; AL353812; CAI13764.1; -; Genomic_DNA.
DR EMBL; AL031672; CAI13764.1; JOINED; Genomic_DNA.
DR EMBL; AL031672; CAI43019.1; -; Genomic_DNA.
DR EMBL; AL353812; CAI43019.1; JOINED; Genomic_DNA.
DR EMBL; BC012542; AAH12542.1; -; mRNA.
DR RefSeq; NP_066545.3; NM_021067.3.
DR UniGene; Hs.658464; -.
DR PDB; 2E9X; X-ray; 2.30 A; A/E=1-149.
DR PDB; 2EHO; X-ray; 3.00 A; B/F/J=1-151.
DR PDB; 2Q9Q; X-ray; 2.36 A; C/G=1-196.
DR PDBsum; 2E9X; -.
DR PDBsum; 2EHO; -.
DR PDBsum; 2Q9Q; -.
DR ProteinModelPortal; Q14691; -.
DR SMR; Q14691; 1-144.
DR DIP; DIP-29331N; -.
DR STRING; 9606.ENSP00000262460; -.
DR PhosphoSite; Q14691; -.
DR DMDM; 6226339; -.
DR PaxDb; Q14691; -.
DR PeptideAtlas; Q14691; -.
DR PRIDE; Q14691; -.
DR DNASU; 9837; -.
DR Ensembl; ENST00000262460; ENSP00000262460; ENSG00000101003.
DR GeneID; 9837; -.
DR KEGG; hsa:9837; -.
DR UCSC; uc002wuv.1; human.
DR CTD; 9837; -.
DR GeneCards; GC20P025389; -.
DR HGNC; HGNC:28980; GINS1.
DR HPA; HPA051185; -.
DR HPA; HPA054486; -.
DR MIM; 610608; gene.
DR neXtProt; NX_Q14691; -.
DR PharmGKB; PA145008291; -.
DR eggNOG; COG5230; -.
DR HOGENOM; HOG000192102; -.
DR HOVERGEN; HBG053743; -.
DR InParanoid; Q14691; -.
DR KO; K10732; -.
DR OMA; LQRNKRC; -.
DR OrthoDB; EOG7M6D8F; -.
DR PhylomeDB; Q14691; -.
DR Reactome; REACT_115566; Cell Cycle.
DR Reactome; REACT_383; DNA Replication.
DR ChiTaRS; GINS1; human.
DR EvolutionaryTrace; Q14691; -.
DR GeneWiki; GINS1; -.
DR GenomeRNAi; 9837; -.
DR NextBio; 37066; -.
DR PRO; PR:Q14691; -.
DR ArrayExpress; Q14691; -.
DR Bgee; Q14691; -.
DR CleanEx; HS_GINS1; -.
DR Genevestigator; Q14691; -.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0006271; P:DNA strand elongation involved in DNA replication; TAS:Reactome.
DR GO; GO:0001833; P:inner cell mass cell proliferation; IEA:Ensembl.
DR GO; GO:0000278; P:mitotic cell cycle; TAS:Reactome.
DR InterPro; IPR005339; GINS_Psf1.
DR PANTHER; PTHR12914; PTHR12914; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Complete proteome; DNA replication; Nucleus;
KW Polymorphism; Reference proteome.
FT CHAIN 1 196 DNA replication complex GINS protein
FT PSF1.
FT /FTId=PRO_0000219035.
FT VARIANT 97 97 V -> I (in dbSNP:rs6076347).
FT /FTId=VAR_051606.
FT HELIX 4 15
FT STRAND 16 19
FT HELIX 26 49
FT HELIX 56 58
FT HELIX 59 94
FT HELIX 100 104
FT HELIX 108 127
FT STRAND 128 132
SQ SEQUENCE 196 AA; 22988 MW; 2270B5CE6C43BFE5 CRC64;
MFCEKAMELI RELHRAPEGQ LPAFNEDGLR QVLEEMKALY EQNQSDVNEA KSGGRSDLIP
TIKFRHCSLL RNRRCTVAYL YDRLLRIRAL RWEYGSVLPN ALRFHMAAEE MEWFNNYKRS
LATYMRSLGG DEGLDITQDM KPPKSLYIEV RCLKDYGEFE VDDGTSVLLK KNSQHFLPRW
KCEQLIRQGV LEHILS
//
ID PSF1_HUMAN Reviewed; 196 AA.
AC Q14691; Q9NQE2; Q9NQI7;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-NOV-1996, sequence version 1.
DT 22-JAN-2014, entry version 124.
DE RecName: Full=DNA replication complex GINS protein PSF1;
DE AltName: Full=GINS complex subunit 1;
GN Name=GINS1; Synonyms=KIAA0186, PSF1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Bone marrow;
RX PubMed=8724849; DOI=10.1093/dnares/3.1.17;
RA Nagase T., Seki N., Ishikawa K., Tanaka A., Nomura N.;
RT "Prediction of the coding sequences of unidentified human genes. V.
RT The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by
RT analysis of cDNA clones from human cell line KG-1.";
RL DNA Res. 3:17-24(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M.,
RA Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J.,
RA Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M.,
RA Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R.,
RA Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M.,
RA Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H.,
RA Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S.,
RA Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E.,
RA Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A.,
RA Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M.,
RA Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A.,
RA Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S.,
RA Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ILE-97.
RC TISSUE=Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP INDUCTION.
RX PubMed=17611626; DOI=10.1371/journal.pone.0000594;
RA Ryu B., Kim D.S., Deluca A.M., Alani R.M.;
RT "Comprehensive expression profiling of tumor cell lines identifies
RT molecular signatures of melanoma progression.";
RL PLoS ONE 2:E594-E594(2007).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [7]
RP STRUCTURE BY ELECTRON MICROSCOPY (33 ANGSTROMS) IN COMPLEX WITH GINS2;
RP GINS3 AND GINS4, SUBUNIT, AND MASS SPECTROMETRY OF GINS COMPLEX.
RX PubMed=17557111; DOI=10.1038/sj.embor.7401002;
RA Boskovic J., Coloma J., Aparicio T., Zhou M., Robinson C.V.,
RA Mendez J., Montoya G.;
RT "Molecular architecture of the human GINS complex.";
RL EMBO Rep. 8:678-684(2007).
RN [8]
RP X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 1-151 IN COMPLEX WITH GINS2;
RP GINS3 AND GINS4, AND SUBUNIT.
RX PubMed=17545466; DOI=10.1101/gad.1548107;
RA Choi J.M., Lim H.S., Kim J.J., Song O.K., Cho Y.;
RT "Crystal structure of the human GINS complex.";
RL Genes Dev. 21:1316-1321(2007).
RN [9]
RP FUNCTION, X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 1-149 IN COMPLEX
RP WITH GINS2; GINS3 AND GINS4, AND SUBUNIT.
RX PubMed=17417653; DOI=10.1038/nsmb1231;
RA Kamada K., Kubota Y., Arata T., Shindo Y., Hanaoka F.;
RT "Structure of the human GINS complex and its assembly and functional
RT interface in replication initiation.";
RL Nat. Struct. Mol. Biol. 14:388-396(2007).
RN [10]
RP X-RAY CRYSTALLOGRAPHY (2.36 ANGSTROMS) IN COMPLEX WITH GINS2; GINS3
RP AND GINS4, SUBUNIT, AND REGION.
RX PubMed=17652513; DOI=10.1073/pnas.0705558104;
RA Chang Y.P., Wang G., Bermudez V., Hurwitz J., Chen X.S.;
RT "Crystal structure of the GINS complex and functional insights into
RT its role in DNA replication.";
RL Proc. Natl. Acad. Sci. U.S.A. 104:12685-12690(2007).
CC -!- FUNCTION: The GINS complex plays an essential role in the
CC initiation of DNA replication, and progression of DNA replication
CC forks. GINS complex seems to bind preferentially to single-
CC stranded DNA. GINS1 is essential for function.
CC -!- SUBUNIT: Component of the GINS complex which is a heterotetramer
CC of GINS1, GINS2, GINS3 and GINS4. Forms a stable subcomplex with
CC GINS4. GINS complex interacts with DNA primase in vitro.
CC -!- SUBCELLULAR LOCATION: Nucleus (By similarity).
CC -!- INDUCTION: Significantly up-regulated in aggressive melanomas.
CC -!- MASS SPECTROMETRY: Mass=98373; Mass_error=13; Method=Electrospray;
CC Range=1-196; Note=This is the measured mass for the GINS complex;
CC Source=PubMed:17557111;
CC -!- SIMILARITY: Belongs to the GINS1/PSF1 family.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA11503.2; Type=Erroneous initiation;
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; D80008; BAA11503.2; ALT_INIT; mRNA.
DR EMBL; AL353812; CAI13764.1; -; Genomic_DNA.
DR EMBL; AL031672; CAI13764.1; JOINED; Genomic_DNA.
DR EMBL; AL031672; CAI43019.1; -; Genomic_DNA.
DR EMBL; AL353812; CAI43019.1; JOINED; Genomic_DNA.
DR EMBL; BC012542; AAH12542.1; -; mRNA.
DR RefSeq; NP_066545.3; NM_021067.3.
DR UniGene; Hs.658464; -.
DR PDB; 2E9X; X-ray; 2.30 A; A/E=1-149.
DR PDB; 2EHO; X-ray; 3.00 A; B/F/J=1-151.
DR PDB; 2Q9Q; X-ray; 2.36 A; C/G=1-196.
DR PDBsum; 2E9X; -.
DR PDBsum; 2EHO; -.
DR PDBsum; 2Q9Q; -.
DR ProteinModelPortal; Q14691; -.
DR SMR; Q14691; 1-144.
DR DIP; DIP-29331N; -.
DR STRING; 9606.ENSP00000262460; -.
DR PhosphoSite; Q14691; -.
DR DMDM; 6226339; -.
DR PaxDb; Q14691; -.
DR PeptideAtlas; Q14691; -.
DR PRIDE; Q14691; -.
DR DNASU; 9837; -.
DR Ensembl; ENST00000262460; ENSP00000262460; ENSG00000101003.
DR GeneID; 9837; -.
DR KEGG; hsa:9837; -.
DR UCSC; uc002wuv.1; human.
DR CTD; 9837; -.
DR GeneCards; GC20P025389; -.
DR HGNC; HGNC:28980; GINS1.
DR HPA; HPA051185; -.
DR HPA; HPA054486; -.
DR MIM; 610608; gene.
DR neXtProt; NX_Q14691; -.
DR PharmGKB; PA145008291; -.
DR eggNOG; COG5230; -.
DR HOGENOM; HOG000192102; -.
DR HOVERGEN; HBG053743; -.
DR InParanoid; Q14691; -.
DR KO; K10732; -.
DR OMA; LQRNKRC; -.
DR OrthoDB; EOG7M6D8F; -.
DR PhylomeDB; Q14691; -.
DR Reactome; REACT_115566; Cell Cycle.
DR Reactome; REACT_383; DNA Replication.
DR ChiTaRS; GINS1; human.
DR EvolutionaryTrace; Q14691; -.
DR GeneWiki; GINS1; -.
DR GenomeRNAi; 9837; -.
DR NextBio; 37066; -.
DR PRO; PR:Q14691; -.
DR ArrayExpress; Q14691; -.
DR Bgee; Q14691; -.
DR CleanEx; HS_GINS1; -.
DR Genevestigator; Q14691; -.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0006271; P:DNA strand elongation involved in DNA replication; TAS:Reactome.
DR GO; GO:0001833; P:inner cell mass cell proliferation; IEA:Ensembl.
DR GO; GO:0000278; P:mitotic cell cycle; TAS:Reactome.
DR InterPro; IPR005339; GINS_Psf1.
DR PANTHER; PTHR12914; PTHR12914; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Complete proteome; DNA replication; Nucleus;
KW Polymorphism; Reference proteome.
FT CHAIN 1 196 DNA replication complex GINS protein
FT PSF1.
FT /FTId=PRO_0000219035.
FT VARIANT 97 97 V -> I (in dbSNP:rs6076347).
FT /FTId=VAR_051606.
FT HELIX 4 15
FT STRAND 16 19
FT HELIX 26 49
FT HELIX 56 58
FT HELIX 59 94
FT HELIX 100 104
FT HELIX 108 127
FT STRAND 128 132
SQ SEQUENCE 196 AA; 22988 MW; 2270B5CE6C43BFE5 CRC64;
MFCEKAMELI RELHRAPEGQ LPAFNEDGLR QVLEEMKALY EQNQSDVNEA KSGGRSDLIP
TIKFRHCSLL RNRRCTVAYL YDRLLRIRAL RWEYGSVLPN ALRFHMAAEE MEWFNNYKRS
LATYMRSLGG DEGLDITQDM KPPKSLYIEV RCLKDYGEFE VDDGTSVLLK KNSQHFLPRW
KCEQLIRQGV LEHILS
//
MIM
610608
*RECORD*
*FIELD* NO
610608
*FIELD* TI
*610608 GINS COMPLEX SUBUNIT 1; GINS1
;;PSF1, S. CEREVISIAE, HOMOLOG OF; PSF1;;
KIAA0186
read moreGINS COMPLEX, INCLUDED
*FIELD* TX
DESCRIPTION
The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4;
610611), Psf1, Psf2 (GINS2; 610609), and Psf3 (GINS3; 610610). The
formation of the GINS complex is essential for the initiation of DNA
replication in yeast and Xenopus egg extracts (Ueno et al., 2005).
CLONING
By sequencing clones obtained from a size-fractionated myeloid leukemia
cell line cDNA library, Nagase et al. (1996) cloned GINS1, which they
designated KIAA0186. The 3-prime UTR contains a complex array of Alu
repeats and partial LINE sequences, and the deduced protein contains 196
amino acids. Northern blot analysis detected moderate expression in
thymus, testis, KG-1 cells, and HeLa cells, with low expression in small
intestine and colon, and no expression in the other tissues examined.
By RT-PCR of mouse tissues, Ueno et al. (2005) found Psf1 expression
predominantly in tissues with active stem cell systems, including adult
bone marrow, thymus, testis, and ovary. Expression was not detected in
other adult tissues. Immunohistochemical analysis detected Psf1 in
immature cells of sperm, i.e., spermatogonia, and in other immature cell
populations, including blastocysts, thymic progenitor cells, and yolk
sac-containing hematopoietic progenitor cells.
GENE FUNCTION
Takayama et al. (2003) found that in yeast during S phase GINS
associated first with replication origins and then with neighboring
sequences. Without GINS, neither Dpb11, which is a homolog of TOPBP1
(607760), nor Cdc45 (603465) associated properly with chromatin DNA.
Without Dpb11 and Sld3, GINS did not associate with replication origins.
Genetic and 2-hybrid analysis suggested that GINS interacted with Sld3
and Dpb11. Takayama et al. (2003) concluded that Dpb11, Sld3, Cdc45, and
GINS assemble in a mutually dependent manner on replication origins to
initiate DNA synthesis.
MAPPING
By radiation hybrid analysis, Nagase et al. (1996) mapped the GINS1 gene
to chromosome 20.
NOMENCLATURE
The GINS complex derives its name from the Japanese words Go, Ichi, Nii,
and San, which mean 5, 1, 2, and 3, respectively, and refer to the
numbering of the yeast homologs of the GINS complex (Takayama et al.,
2003).
ANIMAL MODEL
Ueno et al. (2005) found that Psf1 deletion caused embryonic lethality
in mice around the implantation stage. Psf1 -/- blastocysts failed to
show outgrowth in culture and exhibited impaired proliferation of the
inner cell mass and trophoblast. Ueno et al. (2005) concluded that Psf1
is required for early embryogenesis.
*FIELD* RF
1. Nagase, T.; Seki, N.; Ishikawa, K.; Tanaka, A.; Nomura, N.: Prediction
of the coding sequences of unidentified human genes. V. The coding
sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis
of cDNA clones from human cell line KG-1. DNA Res. 3: 17-24, 1996.
2. Takayama, Y.; Kamimura, Y.; Okawa, M.; Muramatsu, S.; Sugino, A.;
Araki, H.: GINS, a novel multiprotein complex required for chromosomal
DNA replication in budding yeast. Genes Dev. 17: 1153-1165, 2003.
3. Ueno, M.; Itoh, M.; Kong, L.; Sugihara, K.; Asano, M.; Takakura,
N.: PSF1 is essential for early embryogenesis in mice. Molec. Cell
Biol. 25: 10528-10532, 2005.
*FIELD* CD
Patricia A. Hartz: 11/29/2006
*FIELD* ED
wwang: 12/04/2006
wwang: 11/29/2006
*RECORD*
*FIELD* NO
610608
*FIELD* TI
*610608 GINS COMPLEX SUBUNIT 1; GINS1
;;PSF1, S. CEREVISIAE, HOMOLOG OF; PSF1;;
KIAA0186
read moreGINS COMPLEX, INCLUDED
*FIELD* TX
DESCRIPTION
The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4;
610611), Psf1, Psf2 (GINS2; 610609), and Psf3 (GINS3; 610610). The
formation of the GINS complex is essential for the initiation of DNA
replication in yeast and Xenopus egg extracts (Ueno et al., 2005).
CLONING
By sequencing clones obtained from a size-fractionated myeloid leukemia
cell line cDNA library, Nagase et al. (1996) cloned GINS1, which they
designated KIAA0186. The 3-prime UTR contains a complex array of Alu
repeats and partial LINE sequences, and the deduced protein contains 196
amino acids. Northern blot analysis detected moderate expression in
thymus, testis, KG-1 cells, and HeLa cells, with low expression in small
intestine and colon, and no expression in the other tissues examined.
By RT-PCR of mouse tissues, Ueno et al. (2005) found Psf1 expression
predominantly in tissues with active stem cell systems, including adult
bone marrow, thymus, testis, and ovary. Expression was not detected in
other adult tissues. Immunohistochemical analysis detected Psf1 in
immature cells of sperm, i.e., spermatogonia, and in other immature cell
populations, including blastocysts, thymic progenitor cells, and yolk
sac-containing hematopoietic progenitor cells.
GENE FUNCTION
Takayama et al. (2003) found that in yeast during S phase GINS
associated first with replication origins and then with neighboring
sequences. Without GINS, neither Dpb11, which is a homolog of TOPBP1
(607760), nor Cdc45 (603465) associated properly with chromatin DNA.
Without Dpb11 and Sld3, GINS did not associate with replication origins.
Genetic and 2-hybrid analysis suggested that GINS interacted with Sld3
and Dpb11. Takayama et al. (2003) concluded that Dpb11, Sld3, Cdc45, and
GINS assemble in a mutually dependent manner on replication origins to
initiate DNA synthesis.
MAPPING
By radiation hybrid analysis, Nagase et al. (1996) mapped the GINS1 gene
to chromosome 20.
NOMENCLATURE
The GINS complex derives its name from the Japanese words Go, Ichi, Nii,
and San, which mean 5, 1, 2, and 3, respectively, and refer to the
numbering of the yeast homologs of the GINS complex (Takayama et al.,
2003).
ANIMAL MODEL
Ueno et al. (2005) found that Psf1 deletion caused embryonic lethality
in mice around the implantation stage. Psf1 -/- blastocysts failed to
show outgrowth in culture and exhibited impaired proliferation of the
inner cell mass and trophoblast. Ueno et al. (2005) concluded that Psf1
is required for early embryogenesis.
*FIELD* RF
1. Nagase, T.; Seki, N.; Ishikawa, K.; Tanaka, A.; Nomura, N.: Prediction
of the coding sequences of unidentified human genes. V. The coding
sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis
of cDNA clones from human cell line KG-1. DNA Res. 3: 17-24, 1996.
2. Takayama, Y.; Kamimura, Y.; Okawa, M.; Muramatsu, S.; Sugino, A.;
Araki, H.: GINS, a novel multiprotein complex required for chromosomal
DNA replication in budding yeast. Genes Dev. 17: 1153-1165, 2003.
3. Ueno, M.; Itoh, M.; Kong, L.; Sugihara, K.; Asano, M.; Takakura,
N.: PSF1 is essential for early embryogenesis in mice. Molec. Cell
Biol. 25: 10528-10532, 2005.
*FIELD* CD
Patricia A. Hartz: 11/29/2006
*FIELD* ED
wwang: 12/04/2006
wwang: 11/29/2006