Q14687 (GSE1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Genetic suppressor element 1

Gene names

Name:	GSE1
Synonyms:	KIAA0182

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	1217 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subunit structure	May be a component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B/BRAF35, KDM1A, RCOR1/CoREST, PHF21A/BHC80, ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I.
Sequence caution	The sequence BAA11499.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Binary interactions

With	Entry	#Exp.	IntAct	Notes
RCOR3	Q9P2K3	3	EBI-372619,EBI-743428

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q14687-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q14687-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-104: Missing.

Isoform 3 (identifier: Q14687-3)

The sequence of this isoform differs from the canonical sequence as follows:
     3-75: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1217	1217	Genetic suppressor element 1		PRO_0000050730
Regions
	Coiled coil	321 – 403	83	Potential
	Coiled coil	1127 – 1201	75	Potential
	Compositional bias	532 – 722	191	Pro-rich
	Compositional bias	745 – 748	4	Poly-Arg
	Compositional bias	1102 – 1107	6	Poly-Glu
Amino acid modifications
	Modified residue	84	1	Phosphoserine Ref.5
	Modified residue	496	1	N6-acetyllysine Ref.6
	Modified residue	739	1	N6-acetyllysine Ref.6
	Modified residue	766	1	Phosphoserine Ref.5
	Modified residue	826	1	Phosphoserine Ref.4
	Modified residue	857	1	Phosphoserine Ref.5 Ref.7
	Modified residue	907	1	Phosphothreonine Ref.5
	Modified residue	909	1	Phosphoserine Ref.4 Ref.5 Ref.7
	Modified residue	1101	1	Phosphoserine Ref.4
Natural variations
	Alternative sequence	1 – 104	104	Missing in isoform 2.		VSP_021820
	Alternative sequence	3 – 75	73	Missing in isoform 3.		VSP_021821
	Natural variant	627	1	R → W in a colorectal cancer sample; somatic mutation. Ref.10		VAR_035926
	Natural variant	936	1	V → A. Ref.3 Corresponds to variant rs17853763 [ dbSNP | Ensembl ].		VAR_029546
	Natural variant	1153	1	R → Q. Corresponds to variant rs2303203 [ dbSNP | Ensembl ].		VAR_029547
Experimental info
	Sequence conflict	444	1	G → S in BAA11499. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 20, 2007. Version 3. Checksum: 4291FBE301B70F36	FASTA	1,217	136,164
	10 20 30 40 50 60 MKGMSHEPKS PSLGMLSTAT RTTATVNPLT PSPLNGALVP SGSPATSSAL SAQAAPSSSF 70 80 90 100 110 120 AAALRKLAKQ AEEPRGSSLS SESSPVSSPA TNHSSPASTP KRVPMGPIIV PPGGHSVPST 130 140 150 160 170 180 PPVVTIAPTK TVNGVWRSES RQDAGSRSSS GGRERLIVEP PLPQEKAGGP AIPSHLLSTP 190 200 210 220 230 240 YPFGLSPSSV VQDSRFPPLN LQRPVHHVVP PSTVTEDYLR SFRPYHTTDD LRMSSLPPLG 250 260 270 280 290 300 LDPATAAAYY HPSYLAPHPF PHPAFRMDDS YCLSALRSPF YPIPTPGSLP PLHPSAMHLH 310 320 330 340 350 360 LSGVRYPPEL SHSSLAALHS ERMSGLSAER LQMDEELRRE RERERERERE READREREKE 370 380 390 400 410 420 REREREKERE QEKEREREKE RERELERQRE QRAREKELLA AKALEPSFLP VAELHGLRGH 430 440 450 460 470 480 ATEERGKPSE QLTPTRAEKL KDAGLQAPKP VQHPLHPVPT PHHTVPSLIS NHGIFSLPSS 490 500 510 520 530 540 SAATALLIQR TNEEEKWLAR QRRLRQEKED RQSQVSEFRQ QVLEQHLDMG RPPVPAEAEH 550 560 570 580 590 600 RPESTTRPGP NRHEPGGRDP PQHFGGPPPL ISPKPQLHAA PTALWNPVSL MDNTLETRRA 610 620 630 640 650 660 ESHSLHSHPA AFEPSRQAAV PLVKVERVFC PEKAEEGPRK REPAPLDKYQ PPPPPPREGG 670 680 690 700 710 720 SLEHQPFLPG PGPFLAELEK STQTILGQQR ASLPQAATFG ELSGPLKPGS PYRPPVPRAP 730 740 750 760 770 780 DPAYIYDEFL QQRRRLVSKL DLEERRRREA QEKGYYYDLD DSYDESDEEE VRAHLRCVAE 790 800 810 820 830 840 QPPLKLDTSS EKLEFLQLFG LTTQQQKEEL VAQKRRKRRR MLRERSPSPP TIQSKRQTPS 850 860 870 880 890 900 PRLALSTRYS PDEMNNSPNF EEKKKFLTIF NLTHISAEKR KDKERLVEML RAMKQKALSA 910 920 930 940 950 960 AVADSLTNSP RDSPAVSLSE PATQQASLDV EKPVGVAASL SDIPKAAEPG KLEQVRPQEL 970 980 990 1000 1010 1020 SRVQELAPAS GEKARLSEAP GGKKSLSMLH YIRGAAPKDI PVPLSHSTNG KSKPWEPFVA 1030 1040 1050 1060 1070 1080 EEFAHQFHES VLQSTQKALQ KHKGSVAVLS AEQNHKVDTS VHYNIPELQS SSRAPPPQHN 1090 1100 1110 1120 1130 1140 GQQEPPTARK GPPTQELDRD SEEEEEEDDE DGEDEEEVPK RKWQGIEAVF EAYQEHIEEQ 1150 1160 1170 1180 1190 1200 NLERQVLQTQ CRRLEARHYS LSLTAEQLSH SVAELRSQKQ KMVSERERLQ AELDHLRKCL 1210 ALPAMHWPRG YLKGYPR
	Isoform 2 [UniParc]. Checksum: 5AB78CBD09B3216F	FASTA	1,113	125,842
	10 20 30 40 50 60 MGPIIVPPGG HSVPSTPPVV TIAPTKTVNG VWRSESRQDA GSRSSSGGRE RLIVEPPLPQ 70 80 90 100 110 120 EKAGGPAIPS HLLSTPYPFG LSPSSVVQDS RFPPLNLQRP VHHVVPPSTV TEDYLRSFRP 130 140 150 160 170 180 YHTTDDLRMS SLPPLGLDPA TAAAYYHPSY LAPHPFPHPA FRMDDSYCLS ALRSPFYPIP 190 200 210 220 230 240 TPGSLPPLHP SAMHLHLSGV RYPPELSHSS LAALHSERMS GLSAERLQMD EELRRERERE 250 260 270 280 290 300 REREREREAD REREKERERE REKEREQEKE REREKERERE LERQREQRAR EKELLAAKAL 310 320 330 340 350 360 EPSFLPVAEL HGLRGHATEE RGKPSEQLTP TRAEKLKDAG LQAPKPVQHP LHPVPTPHHT 370 380 390 400 410 420 VPSLISNHGI FSLPSSSAAT ALLIQRTNEE EKWLARQRRL RQEKEDRQSQ VSEFRQQVLE 430 440 450 460 470 480 QHLDMGRPPV PAEAEHRPES TTRPGPNRHE PGGRDPPQHF GGPPPLISPK PQLHAAPTAL 490 500 510 520 530 540 WNPVSLMDNT LETRRAESHS LHSHPAAFEP SRQAAVPLVK VERVFCPEKA EEGPRKREPA 550 560 570 580 590 600 PLDKYQPPPP PPREGGSLEH QPFLPGPGPF LAELEKSTQT ILGQQRASLP QAATFGELSG 610 620 630 640 650 660 PLKPGSPYRP PVPRAPDPAY IYDEFLQQRR RLVSKLDLEE RRRREAQEKG YYYDLDDSYD 670 680 690 700 710 720 ESDEEEVRAH LRCVAEQPPL KLDTSSEKLE FLQLFGLTTQ QQKEELVAQK RRKRRRMLRE 730 740 750 760 770 780 RSPSPPTIQS KRQTPSPRLA LSTRYSPDEM NNSPNFEEKK KFLTIFNLTH ISAEKRKDKE 790 800 810 820 830 840 RLVEMLRAMK QKALSAAVAD SLTNSPRDSP AVSLSEPATQ QASLDVEKPV GVAASLSDIP 850 860 870 880 890 900 KAAEPGKLEQ VRPQELSRVQ ELAPASGEKA RLSEAPGGKK SLSMLHYIRG AAPKDIPVPL 910 920 930 940 950 960 SHSTNGKSKP WEPFVAEEFA HQFHESVLQS TQKALQKHKG SVAVLSAEQN HKVDTSVHYN 970 980 990 1000 1010 1020 IPELQSSSRA PPPQHNGQQE PPTARKGPPT QELDRDSEEE EEEDDEDGED EEEVPKRKWQ 1030 1040 1050 1060 1070 1080 GIEAVFEAYQ EHIEEQNLER QVLQTQCRRL EARHYSLSLT AEQLSHSVAE LRSQKQKMVS 1090 1100 1110 ERERLQAELD HLRKCLALPA MHWPRGYLKG YPR
	Isoform 3 [UniParc]. Checksum: EFEA707A543C49D2	FASTA	1,144	128,923
	10 20 30 40 50 60 MKGSSLSSES SPVSSPATNH SSPASTPKRV PMGPIIVPPG GHSVPSTPPV VTIAPTKTVN 70 80 90 100 110 120 GVWRSESRQD AGSRSSSGGR ERLIVEPPLP QEKAGGPAIP SHLLSTPYPF GLSPSSVVQD 130 140 150 160 170 180 SRFPPLNLQR PVHHVVPPST VTEDYLRSFR PYHTTDDLRM SSLPPLGLDP ATAAAYYHPS 190 200 210 220 230 240 YLAPHPFPHP AFRMDDSYCL SALRSPFYPI PTPGSLPPLH PSAMHLHLSG VRYPPELSHS 250 260 270 280 290 300 SLAALHSERM SGLSAERLQM DEELRRERER EREREREREA DREREKERER EREKEREQEK 310 320 330 340 350 360 EREREKERER ELERQREQRA REKELLAAKA LEPSFLPVAE LHGLRGHATE ERGKPSEQLT 370 380 390 400 410 420 PTRAEKLKDA GLQAPKPVQH PLHPVPTPHH TVPSLISNHG IFSLPSSSAA TALLIQRTNE 430 440 450 460 470 480 EEKWLARQRR LRQEKEDRQS QVSEFRQQVL EQHLDMGRPP VPAEAEHRPE STTRPGPNRH 490 500 510 520 530 540 EPGGRDPPQH FGGPPPLISP KPQLHAAPTA LWNPVSLMDN TLETRRAESH SLHSHPAAFE 550 560 570 580 590 600 PSRQAAVPLV KVERVFCPEK AEEGPRKREP APLDKYQPPP PPPREGGSLE HQPFLPGPGP 610 620 630 640 650 660 FLAELEKSTQ TILGQQRASL PQAATFGELS GPLKPGSPYR PPVPRAPDPA YIYDEFLQQR 670 680 690 700 710 720 RRLVSKLDLE ERRRREAQEK GYYYDLDDSY DESDEEEVRA HLRCVAEQPP LKLDTSSEKL 730 740 750 760 770 780 EFLQLFGLTT QQQKEELVAQ KRRKRRRMLR ERSPSPPTIQ SKRQTPSPRL ALSTRYSPDE 790 800 810 820 830 840 MNNSPNFEEK KKFLTIFNLT HISAEKRKDK ERLVEMLRAM KQKALSAAVA DSLTNSPRDS 850 860 870 880 890 900 PAVSLSEPAT QQASLDVEKP VGVAASLSDI PKAAEPGKLE QVRPQELSRV QELAPASGEK 910 920 930 940 950 960 ARLSEAPGGK KSLSMLHYIR GAAPKDIPVP LSHSTNGKSK PWEPFVAEEF AHQFHESVLQ 970 980 990 1000 1010 1020 STQKALQKHK GSVAVLSAEQ NHKVDTSVHY NIPELQSSSR APPPQHNGQQ EPPTARKGPP 1030 1040 1050 1060 1070 1080 TQELDRDSEE EEEEDDEDGE DEEEVPKRKW QGIEAVFEAY QEHIEEQNLE RQVLQTQCRR 1090 1100 1110 1120 1130 1140 LEARHYSLSL TAEQLSHSVA ELRSQKQKMV SERERLQAEL DHLRKCLALP AMHWPRGYLK GYPR

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] (ISOFORM 3). Tissue: Bone marrow.
[2]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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] (ISOFORMS 1 AND 2), VARIANT ALA-936. Tissue: Lung and Placenta.
[4]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-826; SER-909 AND SER-1101, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[5]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-84; SER-766; SER-857; THR-907 AND SER-909, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[6]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-496 AND LYS-739, MASS SPECTROMETRY.
[7]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-857 AND SER-909, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"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].
[9]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] TRP-627.

Cross-references

Sequence databases
EMBL GenBank DDBJ	D80004 mRNA. Translation: BAA11499.2. Different initiation. CH471114 Genomic DNA. Translation: EAW95445.1. CH471114 Genomic DNA. Translation: EAW95447.1. BC000753 mRNA. Translation: AAH00753.2. BC009854 mRNA. Translation: AAH09854.2. BC037556 mRNA. Translation: AAH37556.1. BQ214916 mRNA. No translation available.
IPI	IPI00215963. IPI00807501. IPI00807714.
RefSeq	NP_001127945.1. NM_001134473.1. NP_055430.1. NM_014615.2.
UniGene	Hs.461647.
3D structure databases
ProteinModelPortal	Q14687.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q14687. 11 interactions.
STRING	9606.ENSP00000253458.
PTM databases
PhosphoSite	Q14687.
Polymorphism databases
DMDM	126302550.
Proteomic databases
PaxDb	Q14687.
PRIDE	Q14687.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000253458; ENSP00000253458; ENSG00000131149. ENST00000393243; ENSP00000376934; ENSG00000131149. ENST00000405402; ENSP00000384839; ENSG00000131149.
GeneID	23199.
KEGG	hsa:23199.
UCSC	uc002fiw.3. human. uc002fiy.3. human.
Organism-specific databases
CTD	23199.
GeneCards	GC16P085645.
HGNC	HGNC:28979. GSE1.
HPA	HPA036365.
neXtProt	NX_Q14687.
PharmGKB	PA143485512.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG46383.
HOGENOM	HOG000112825.
HOVERGEN	HBG079773.
InParanoid	Q14687.
OMA	ERVYCPE.
PhylomeDB	Q14687.
Gene expression databases
ArrayExpress	Q14687.
Bgee	Q14687.
CleanEx	HS_KIAA0182.
Genevestigator	Q14687.
GermOnline	ENSG00000131149. Homo sapiens.
Family and domain databases
InterPro	IPR022207. GSE-like. [Graphical view]
Pfam	PF12540. DUF3736. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	23199.
NextBio	44711.

Entry information

Entry name

GSE1_HUMAN

Accession

Primary (citable) accession number: Q14687
Secondary accession number(s): D3DUM4 , Q8IY61, Q96GA4, Q9BW09

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	February 20, 2007
Last modified:	April 3, 2013
This is version 80 of the entry and version 3 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.