Reviewed, UniProtKB/Swiss-Prot P57678 (GEMI4_HUMAN)

Names and origin

Protein names

Recommended name:
    Component of gems 4
Alternative name(s):
    Gemin-4
    p97

Gene names

Name:

GEMIN4

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1058 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus.
Subunit structure	Part of the core SMN complex that contains SMN1, SIP1/GEMIN2, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts directly with GEMIN3 and with several snRNP SM core proteins, including SNRPB, SNRPD1, SNRPD2, SNRPD3 and SNRPE. Interacts with PPP4R2. Ref.3
Subcellular location	Cytoplasm. Nucleus. Nucleus › nucleolus. Nucleus › gem. Note: Localized in subnuclear structures next to coiled bodies, called gems, which are highly enriched in spliceosomal snRNPs and in the nucleolus.

Ontologies

Keywords
Biological process	mRNA processing mRNA splicing
Cellular component	Cytoplasm Nucleus Spliceosome
Coding sequence diversity	Polymorphism
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	rRNA processing Ref.1 Traceable author statement. Source: ProtInc spliceosomal snRNP biogenesis Inferred from Experiment. Source: Reactome
Cellular component	Cajal body Inferred from electronic annotation. Source: UniProtKB-SubCell cytosol Inferred from Experiment. Source: Reactome nucleolus Ref.1 Traceable author statement. Source: ProtInc small nuclear ribonucleoprotein complex Ref.1 Traceable author statement. Source: ProtInc spliceosome Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	protein binding Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
BRF2	Q9HAW0	1	EBI-356700,EBI-1055224
CDK4	P11802	1	EBI-356700,EBI-295644
FIBP	O43427	1	EBI-356700,EBI-724809
GIPC1	O14908	1	EBI-356700,EBI-373132
GSK3B	P49841	1	EBI-356700,EBI-373586
ILK	Q13418	1	EBI-356700,EBI-747644
NFKBIL1	Q9UBC1	1	EBI-356700,EBI-1043728
RNPS1	Q15287	1	EBI-356700,EBI-395959
SNRPB	P14678	1	EBI-356700,EBI-372458
SNRPN	P63162	1	EBI-356700,EBI-712493

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1058	1058	Component of gems 4		PRO_0000087459
Regions
	Domain	714 – 735	22	Leucine-zipper Potential
Amino acid modifications
	Modified residue	205	1	Phosphoserine Ref.4
Natural variations
	Natural variant	182	1	F → L: dbSNP rs34604548.		VAR_056891
	Natural variant	502	1	I → V: dbSNP rs34616851.		VAR_056892
	Natural variant	579	1	A → G: dbSNP rs910925.		VAR_024317
	Natural variant	684	1	R → Q: dbSNP rs3744741.		VAR_021971
	Natural variant	739	1	I → T: dbSNP rs1062923.		VAR_056893
	Natural variant	749	1	P → L: dbSNP rs8078660.		VAR_056894
	Natural variant	782	1	F → L: dbSNP rs34452716.		VAR_056895
	Natural variant	824	1	V → F: dbSNP rs34936176.		VAR_056896
	Natural variant	913	1	V → I: dbSNP rs34610323.		VAR_056897
	Natural variant	1033	1	R → C: dbSNP rs7813.		VAR_020390
Experimental info
	Sequence conflict	713	1	P → Q in CAB45743. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	P57678-1 [UniParc]. Last modified December 1, 2000. Version 1. Checksum: 5EE1FE2EE3538D6B	FASTA	1,058	119,990
	10 20 30 40 50 60 MDLGPLNICE EMTILHGGFL LAEQLFHPKA LAELTKSDWE RVGRPIVEAL REISSAAAHS 70 80 90 100 110 120 QPFAWKKKAL IIIWAKVLQP HPVTPSDTET RWQEDLFFSV GNMIPTINHT ILFELLKSLE 130 140 150 160 170 180 ASGLFIQLLM ALPTTICHAE LERFLEHVTV DTSAEDVAFF LDIWWEVMKH KGHPQDPLLS 190 200 210 220 230 240 QFSAMAHKYL PALDEFPHPP KRLRSDPDAC PTMPLLAMLL RGLTQIQSRI LGPGRKCCAL 250 260 270 280 290 300 ANLADMLTVF ALTEDDPQEV SATVYLDKLA TVISVWNSDT QNPYHQQALA EKVKEAERDV 310 320 330 340 350 360 SLTSLAKLPS ETIFVGCEFL HHLLREWGEE LQAVLRSSQG TSYDSYRLCD SLTSFSQNAT 370 380 390 400 410 420 LYLNRTSLSK EDRQVVSELA ECVRDFLRKT STVLKNRALE DITASIAMAV IQQKMDRHME 430 440 450 460 470 480 VCYIFASEKK WAFSDEWVAC LGSNRALFRE PDLVLRLLET VIDVSTADRA IPESQIRQVI 490 500 510 520 530 540 HLILECYADL SLPGKNKVLA GILRSWGRKG LSEKLLAYVE GFQEDLNTTF NQLTQSASEQ 550 560 570 580 590 600 GLAKAVASVA RLVIVHPEVT VKKMCSLAVV NLGTHKFLAQ ILTAFPALRF VEVQGPNSSA 610 620 630 640 650 660 TFMVSCLKET VWMKFSTPKE EKQFLELLNC LMSPVKPQGI PVAALLEPDE VLKEFVLPFL 670 680 690 700 710 720 RLDVEEVDLS LRIFIQTLEA NACREEYWLQ TCSPFPLLFS LCQLLDRFSK YWPLPKEKRC 730 740 750 760 770 780 LSLDRKDLAI HILELLCEIV SANAETFSPD VWIKSLSWLH RKLEQLDWTV GLRLKSFFEG 790 800 810 820 830 840 HFKCEVPATL FEICKLSEDE WTSQAHPGYG AGTGLLAWME CCCVSSGISE RMLSLLVVDV 850 860 870 880 890 900 GNPEEVRLFS KGFLVALVQV MPWCSPQEWQ RLHQLTRRLL EKQLLHVPYS LEYIQFVPLL 910 920 930 940 950 960 NLKPFAQELQ LSVLFLRTFQ FLCSHSCRNW LPLEGWNHVV KLLCGSLTRL LDSVRAIQAA 970 980 990 1000 1010 1020 GPWVQGPEQD LTQEALFVYT QVFCHALHIM AMLHPEVCEP LYVLALETLT CYETLSKTNP 1030 1040 1050 SVSSLLQRAH EQRFLKSIAE GIGPEERRQT LLQKMSSF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Gemin4: a novel component of the SMN complex that is found in both gems and nucleoli." Charroux B., Pellizzoni L., Perkinson R.A., Yong J., Shevchenko A., Mann M., Dreyfuss G. J. Cell Biol. 148:1177-1186(2000) [PubMed: 10725331] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], MASS SPECTROMETRY.
[2]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 186-1058. Tissue: Testis.
[3]	"Protein phosphatase 4 interacts with the survival of motor neurons complex and enhances the temporal localisation of snRNPs." Carnegie G.K., Sleeman J.E., Morrice N., Hastie C.J., Peggie M.W., Philp A., Lamond A.I., Cohen P.T.W. J. Cell Sci. 116:1905-1913(2003) [PubMed: 12668731] [Abstract] Cited for: INTERACTION WITH PPP4R2.
[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: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-205, MASS SPECTROMETRY.
[5]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF173856 mRNA. Translation: AAF35283.1. AL080150 mRNA. Translation: CAB45743.3. AL080167 mRNA. Translation: CAB45755.1.
IPI	IPI00027717.
PIR	T12535.
UniGene	Hs.499620
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	P57678. 20 interactions.
PTM databases
PhosphoSite	P57678.
Proteomic databases
PRIDE	P57678.
Genome annotation databases
Ensembl	ENSG00000179409. Homo sapiens. [Contig view]
Organism-specific databases
GeneCards	GC17M000594.
H-InvDB	HIX0013389.
HGNC	HGNC:15717. GEMIN4.
MIM	606969. gene.
PharmGKB	PA28646.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P57678.
HOVERGEN	P57678.
Enzyme and pathway databases
Reactome	REACT_11052. Metabolism of non-coding RNA.
Gene expression databases
ArrayExpress	P57678.
Bgee	P57678.
CleanEx	HS_GEMIN4.
GermOnline	ENSG00000179409. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other Resources
SOURCE	Search...

Entry information

Entry name

GEMI4_HUMAN

Accession

Primary (citable) accession number: P57678
Secondary accession number(s): Q9NZS7, Q9UG32, Q9Y4Q2

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	December 1, 2000
Last modified:	June 16, 2009
This is version 66 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)