Q14691 (PSF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
DNA replication complex GINS protein PSF1

Alternative name(s):
GINS complex subunit 1

Gene names

Name:	GINS1
Synonyms:	KIAA0186, PSF1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	196 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	The GINS complex plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex seems to bind preferentially to single-stranded DNA. GINS1 is essential for function. Ref.8
Subunit structure	Component of the GINS complex which is a heterotetramer of GINS1, GINS2, GINS3 and GINS4. Forms a stable subcomplex with GINS4. GINS complex interacts with DNA primase in vitro. Ref.6 Ref.7 Ref.8 Ref.9
Subcellular location	Nucleus By similarity.
Induction	Significantly up-regulated in agressive melanomas. Ref.4
Sequence similarities	Belongs to the GINS1/PSF1 family.
Mass spectrometry	Molecular mass is 98373±13 Da from positions 1 - 196. Determined by ESI. This is the measured mass for the GINS complex. Ref.6
Sequence caution	The sequence BAA11503.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	DNA replication
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA strand elongation involved in DNA replication Traceable author statement. Source: Reactome S phase of mitotic cell cycle Traceable author statement. Source: Reactome inner cell mass cell proliferation Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Inferred from direct assay PubMed 10942595. Source: UniProtKB nucleoplasm Traceable author statement. Source: Reactome
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 196

196

DNA replication complex GINS protein PSF1

PRO_0000219035

Natural variations

Natural variant

97

1

V → I. Ref.3
Corresponds to variant rs6076347 [ dbSNP | Ensembl ].

VAR_051606

Secondary structure

1

.

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.

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.

.

.

.

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196

Helix Strand Turn

Details...

Helix

4 – 15

12

Beta strand

16 – 19

4

Helix

26 – 49

24

Helix

56 – 58

3

Helix

59 – 94

36

Helix

100 – 104

5

Helix

108 – 127

20

Beta strand

128 – 132

5

Sequences

	Sequence		Length	Mass (Da)
	Q14691 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: 2270B5CE6C43BFE5	FASTA	196	22,988
	10 20 30 40 50 60 MFCEKAMELI RELHRAPEGQ LPAFNEDGLR QVLEEMKALY EQNQSDVNEA KSGGRSDLIP 70 80 90 100 110 120 TIKFRHCSLL RNRRCTVAYL YDRLLRIRAL RWEYGSVLPN ALRFHMAAEE MEWFNNYKRS 130 140 150 160 170 180 LATYMRSLGG DEGLDITQDM KPPKSLYIEV RCLKDYGEFE VDDGTSVLLK KNSQHFLPRW 190 KCEQLIRQGV LEHILS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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." Nagase T., Seki N., Ishikawa K., Tanaka A., Nomura N. DNA Res. 3:17-24(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Bone marrow.
[2]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ILE-97. Tissue: Skin.
[4]	"Comprehensive expression profiling of tumor cell lines identifies molecular signatures of melanoma progression." Ryu B., Kim D.S., Deluca A.M., Alani R.M. PLoS ONE 2:E594-E594(2007) [PubMed] [Europe PMC] [Abstract] Cited for: INDUCTION.
[5]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]	"Molecular architecture of the human GINS complex." Boskovic J., Coloma J., Aparicio T., Zhou M., Robinson C.V., Mendez J., Montoya G. EMBO Rep. 8:678-684(2007) [PubMed] [Europe PMC] [Abstract] Cited for: STRUCTURE BY ELECTRON MICROSCOPY (33 ANGSTROMS) IN COMPLEX WITH GINS2; GINS3 AND GINS4, SUBUNIT, MASS SPECTROMETRY OF GINS COMPLEX.
[7]	"Crystal structure of the human GINS complex." Choi J.M., Lim H.S., Kim J.J., Song O.K., Cho Y. Genes Dev. 21:1316-1321(2007) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 1-151 IN COMPLEX WITH GINS2; GINS3 AND GINS4, SUBUNIT.
[8]	"Structure of the human GINS complex and its assembly and functional interface in replication initiation." Kamada K., Kubota Y., Arata T., Shindo Y., Hanaoka F. Nat. Struct. Mol. Biol. 14:388-396(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 1-149 IN COMPLEX WITH GINS2; GINS3 AND GINS4, SUBUNIT.
[9]	"Crystal structure of the GINS complex and functional insights into its role in DNA replication." Chang Y.P., Wang G., Bermudez V., Hurwitz J., Chen X.S. Proc. Natl. Acad. Sci. U.S.A. 104:12685-12690(2007) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.36 ANGSTROMS) IN COMPLEX WITH GINS2; GINS3 AND GINS4, SUBUNIT, REGION.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

D80008 mRNA. Translation: BAA11503.2. Different initiation.
AL353812, AL031672 Genomic DNA. Translation: CAI13764.1.
AL031672, AL353812 Genomic DNA. Translation: CAI43019.1.
BC012542 mRNA. Translation: AAH12542.1.

IPI

IPI00032387.

RefSeq

NP_066545.3. NM_021067.3.

UniGene

Hs.658464.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2E9X	X-ray	2.30	A/E	1-149	[»]
2EHO	X-ray	3.00	B/F/J	1-151	[»]
2Q9Q	X-ray	2.36	C/G	1-196	[»]

ProteinModelPortal

Q14691.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-29331N.

STRING

9606.ENSP00000262460.

PTM databases

PhosphoSite

Q14691.

Polymorphism databases

DMDM

6226339.

Proteomic databases

PaxDb

Q14691.

PeptideAtlas

Q14691.

PRIDE

Q14691.

Protocols and materials databases

DNASU

9837.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000262460; ENSP00000262460; ENSG00000101003.

GeneID

9837.

KEGG

hsa:9837.

UCSC

uc002wuv.1. human.

Organism-specific databases

CTD

9837.

GeneCards

GC20P025389.

HGNC

HGNC:28980. GINS1.

HPA

HPA051185.
HPA054486.

MIM

610608. gene.

neXtProt

NX_Q14691.

PharmGKB

PA145008291.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG5230.

HOGENOM

HOG000192102.

HOVERGEN

HBG053743.

InParanoid

Q14691.

KO

K10732.

OMA

RCTIAYL.

OrthoDB

EOG4H19WP.

PhylomeDB

Q14691.

Enzyme and pathway databases

Reactome

REACT_115566. Cell Cycle.
REACT_383. DNA Replication.

Gene expression databases

ArrayExpress

Q14691.

Bgee

Q14691.

CleanEx

HS_GINS1.

Genevestigator

Q14691.

GermOnline

ENSG00000101003. Homo sapiens.

Family and domain databases

InterPro

IPR005339. GINS_Psf1.
[Graphical view]

PANTHER

PTHR12914. PTHR12914. 1 hit.

ProtoNet

Search...

Other

ChiTaRS

GINS1. human.

EvolutionaryTrace

Q14691.

GenomeRNAi

9837.

NextBio

37066.

SOURCE

Search...

Entry information

Entry name

PSF1_HUMAN

Accession

Primary (citable) accession number: Q14691
Secondary accession number(s): Q9NQE2, Q9NQI7

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	November 1, 1996
Last modified:	May 1, 2013
This is version 120 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.