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2024-04-20 14:28:55, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_016095 1196 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens GINS complex subunit 2 (Psf2 homolog) (GINS2), mRNA.
ACCESSION NM_016095
VERSION NM_016095.2 GI:212720602
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1196)
AUTHORS Kang,Y.H., Galal,W.C., Farina,A., Tappin,I. and Hurwitz,J.
TITLE Properties of the human Cdc45/Mcm2-7/GINS helicase complex and its
action with DNA polymerase epsilon in rolling circle DNA synthesis
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 109 (16), 6042-6047 (2012)
PUBMED 22474384
REMARK GeneRIF: Data show that using a 200-nt primed circular DNA
substrate, the combined action of DNA polymerase epsilon and the
Cdc45/Mcm2-7/GINS (CMG complex) leads to the formation of products
>10 kb in length.
REFERENCE 2 (bases 1 to 1196)
AUTHORS Rantala,J.K., Edgren,H., Lehtinen,L., Wolf,M., Kleivi,K.,
Vollan,H.K., Aaltola,A.R., Laasola,P., Kilpinen,S., Saviranta,P.,
Iljin,K. and Kallioniemi,O.
TITLE Integrative functional genomics analysis of sustained polyploidy
phenotypes in breast cancer cells identifies an oncogenic profile
for GINS2
JOURNAL Neoplasia 12 (11), 877-888 (2010)
PUBMED 21082043
REMARK GeneRIF: Data suggest that GINS2 to be associated with the
aggressive characteristics of a subgroup of breast cancers in vivo.
REFERENCE 3 (bases 1 to 1196)
AUTHORS Matsuoka,S., Ballif,B.A., Smogorzewska,A., McDonald,E.R. III,
Hurov,K.E., Luo,J., Bakalarski,C.E., Zhao,Z., Solimini,N.,
Lerenthal,Y., Shiloh,Y., Gygi,S.P. and Elledge,S.J.
TITLE ATM and ATR substrate analysis reveals extensive protein networks
responsive to DNA damage
JOURNAL Science 316 (5828), 1160-1166 (2007)
PUBMED 17525332
REFERENCE 4 (bases 1 to 1196)
AUTHORS Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z.,
Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S.,
McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J.,
Dunham,I., Hill,D.E. and Vidal,M.
TITLE hORFeome v3.1: a resource of human open reading frames representing
over 10,000 human genes
JOURNAL Genomics 89 (3), 307-315 (2007)
PUBMED 17207965
REFERENCE 5 (bases 1 to 1196)
AUTHORS Takayama,Y., Kamimura,Y., Okawa,M., Muramatsu,S., Sugino,A. and
Araki,H.
TITLE GINS, a novel multiprotein complex required for chromosomal DNA
replication in budding yeast
JOURNAL Genes Dev. 17 (9), 1153-1165 (2003)
PUBMED 12730134
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
BE514978.1, AF201939.1 and BC010164.2.
On Nov 14, 2008 this sequence version replaced gi:7706366.
Summary: The yeast heterotetrameric GINS complex is made up of Sld5
(GINS4; MIM 610611), Psf1 (GINS1; MIM 610608), Psf2, and Psf3
(GINS3; MIM 610610). The formation of this complex is essential for
the initiation of DNA replication in yeast and Xenopus egg extracts
(Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional
information about the GINS complex.[supplied by OMIM, Mar 2008].
##Evidence-Data-START##
Transcript exon combination :: BC003186.1, BC062444.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025098 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-8 BE514978.1 2-9
9-28 AF201939.1 1-20
29-957 BC010164.2 3-931
958-1196 AF201939.1 950-1188
FEATURES Location/Qualifiers
source 1..1196
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="16"
/map="16q24.1"
gene 1..1196
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/note="GINS complex subunit 2 (Psf2 homolog)"
/db_xref="GeneID:51659"
/db_xref="HGNC:24575"
/db_xref="HPRD:15197"
/db_xref="MIM:610609"
exon 1..174
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/inference="alignment:Splign:1.39.8"
CDS 85..642
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/codon_start=1
/product="DNA replication complex GINS protein PSF2"
/protein_id="NP_057179.1"
/db_xref="GI:7706367"
/db_xref="CCDS:CCDS10953.1"
/db_xref="GeneID:51659"
/db_xref="HGNC:24575"
/db_xref="HPRD:15197"
/db_xref="MIM:610609"
/translation="
MDAAEVEFLAEKELVTIIPNFSLDKIYLIGGDLGPFNPGLPVEVPLWLAINLKQRQKCRLLPPEWMDVEKLEKMRDHERKEETFTPMPSPYYMELTKLLLNHASDNIPKADEIRTLVKDMWDTRIAKLRVSADSFVRQQEAHAKLDNLTLMEINTSGTFLTQALNHMYKLRTNLQPLESTQSQDF
"
misc_feature 247..606
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/note="Alpha-helical domain of GINS complex protein Psf2
(partner of Sld5 2); Region: GINS_A_psf2; cd11712"
/db_xref="CDD:212550"
misc_feature order(364..366,373..375,445..447,457..459,469..474,
526..528,535..537,541..543,547..579)
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/note="tetramer interface [polypeptide binding]; other
site"
/db_xref="CDD:212550"
misc_feature 622..624
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine; propagated from
UniProtKB/Swiss-Prot (Q9Y248.1); phosphorylation site"
misc_feature 622..624
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/citation=[3]
misc_feature 628..630
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9Y248.1); phosphorylation site"
misc_feature 628..630
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/citation=[3]
exon 175..289
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/inference="alignment:Splign:1.39.8"
exon 290..389
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/inference="alignment:Splign:1.39.8"
exon 390..516
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/inference="alignment:Splign:1.39.8"
exon 517..1180
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/inference="alignment:Splign:1.39.8"
variation 531
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/replace="c"
/replace="t"
/db_xref="dbSNP:13584"
variation 600
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1053328"
variation 691
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/replace="c"
/replace="t"
/db_xref="dbSNP:3751716"
variation 772
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/replace="c"
/replace="t"
/db_xref="dbSNP:3751717"
STS 949..1178
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/standard_name="STS-W81647"
/db_xref="UniSTS:16905"
variation 958
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/replace="a"
/replace="g"
/db_xref="dbSNP:9534"
STS 1014..1141
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/standard_name="G54055"
/db_xref="UniSTS:109437"
variation 1049
/gene="GINS2"
/gene_synonym="HSPC037; Pfs2; PSF2"
/replace="c"
/replace="g"
/db_xref="dbSNP:4565"
ORIGIN
ggaaaacggcggccgcggcgtctcctccgggacgctgaggggcccgaggagaccgtgaggctctggcctgcagctcgcgccgccatggacgctgccgaggtcgaattcctcgccgagaaggagctggttaccattatccccaacttcagtctggacaagatctacctcatcgggggggacctggggccttttaaccctggtttacccgtggaagtgcccctgtggctggcgattaacctgaaacaaagacagaaatgtcgcctgctccctccagagtggatggatgtagaaaagttggagaagatgagggatcatgaacgaaaggaagaaacttttaccccaatgcccagcccttactacatggaacttacgaagctcctgttaaatcatgcttcagacaacatcccgaaggcagacgaaatccggaccctggtcaaggatatgtgggacactcgtatagccaaactccgagtgtctgctgacagctttgtgagacagcaggaggcacatgccaagctggataacttgaccttgatggagatcaacaccagcgggactttcctcacacaagcgctcaaccacatgtacaaactccgcacgaacctccagcctctggagagtactcagtctcaggacttctagagaaaggcctggtgcaggcggcttgctgggggatgtgagcgctcaggacgtgatgaggtactcgtggttctggagctctagaaacacttctgatgcatgaaaaatgtgtgatggtgcaaggaatggattcaggatgttgttggagaaacaagtttgtgattagtccttaaaacttagctccctgggacattcttcaattccacatctgtttctagaaaccagccctttttccccccacttttgagaaataaaaaagccttaggtaaataagtcattctccctagcagagccacttgggtctcctgcatggaagccatcacacttgggcaggtgttcagtgactggtaggtgtagatacagcaggagtggccatgtggtccacggctttttaccccttcttgatcctgatttcttgggctgaatttagactctctcacagaggtggctcacagagaaggatggcagatggtgcagccaacaatgctgaccggtgcttatcctctaagccctgatccacaataaaaatggacccaactcaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:51659 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:51659 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS
GeneID:51659 -> Biological process: GO:0006271 [DNA strand elongation involved in DNA replication] evidence: TAS
GeneID:51659 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
by
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