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P57678 (GEMI4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 113. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gem-associated protein 4

Short name=Gemin-4
Alternative name(s):
Component of gems 4
p97
Gene names
Name:GEMIN4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1058 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. Ref.5

Subunit structure

Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG. Interacts directly with GEMIN3 and with several snRNP SM core proteins, including SNRPB, SNRPD1, SNRPD2, SNRPD3 and SNRPE. Interacts with PPP4R2. Ref.4 Ref.5

Subcellular location

Cytoplasm. Nucleus. Nucleusnucleolus. Nucleusgem. Note: Localized in subnuclear structures next to coiled bodies, called gems, which are highly enriched in spliceosomal snRNPs and in the nucleolus.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10581058Gem-associated protein 4
PRO_0000087459

Regions

Region714 – 73522Leucine-zipper Potential

Amino acid modifications

Modified residue11N-acetylmethionine Ref.7
Modified residue2051Phosphoserine Ref.6

Natural variations

Natural variant1821F → L.
Corresponds to variant rs34604548 [ dbSNP | Ensembl ].
VAR_056891
Natural variant5021I → V.
Corresponds to variant rs34616851 [ dbSNP | Ensembl ].
VAR_056892
Natural variant5791A → G.
Corresponds to variant rs910925 [ dbSNP | Ensembl ].
VAR_024317
Natural variant6841R → Q.
Corresponds to variant rs3744741 [ dbSNP | Ensembl ].
VAR_021971
Natural variant7391I → T.
Corresponds to variant rs1062923 [ dbSNP | Ensembl ].
VAR_056893
Natural variant7491P → L.
Corresponds to variant rs8078660 [ dbSNP | Ensembl ].
VAR_056894
Natural variant7821F → L.
Corresponds to variant rs34452716 [ dbSNP | Ensembl ].
VAR_056895
Natural variant8241V → F.
Corresponds to variant rs34936176 [ dbSNP | Ensembl ].
VAR_056896
Natural variant9131V → I.
Corresponds to variant rs34610323 [ dbSNP | Ensembl ].
VAR_056897
Natural variant10331R → C.
Corresponds to variant rs7813 [ dbSNP | Ensembl ].
VAR_020390

Experimental info

Sequence conflict1631V → I in AAF35283. Ref.1
Sequence conflict4501Q → E in AAF35283. Ref.1
Sequence conflict4501Q → E in CAB45743. Ref.3
Sequence conflict5931E → V in AAF35283. Ref.1
Sequence conflict5931E → V in CAB45743. Ref.3
Sequence conflict7131Q → P in AAF35283. Ref.1
Sequence conflict9291D → N in AAF35283. Ref.1
Sequence conflict9291D → N in CAB45755. Ref.3
Sequence conflict9291D → N in CAB45743. Ref.3

Sequences

Sequence LengthMass (Da)Tools
P57678 [UniParc].

Last modified February 8, 2011. Version 2.
Checksum: ACEC60EC19EF5081

FASTA1,058120,037
        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 LDVWWEVMKH 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 LGSNRALFRQ 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 VEEQGPNSSA 

       610        620        630        640        650        660 
TFMVSCLKET VWMKFSTPKE EKQFLELLNC LMSPVKPQGI PVAALLEPDE VLKEFVLPFL 

       670        680        690        700        710        720 
RLDVEEVDLS LRIFIQTLEA NACREEYWLQ TCSPFPLLFS LCQLLDRFSK YWQLPKEKRC 

       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 FLCSHSCRDW LPLEGWNHVV KLLCGSLTRL LDSVRAIQAA 

       970        980        990       1000       1010       1020 
GPWVQGPEQD LTQEALFVYT QVFCHALHIM AMLHPEVCEP LYVLALETLT CYETLSKTNP 

      1030       1040       1050 
SVSSLLQRAH EQRFLKSIAE GIGPEERRQT LLQKMSSF 

« Hide

References

« Hide '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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], IDENTIFICATION BY MASS SPECTROMETRY.
[2]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 186-1058.
Tissue: Testis.
[4]"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] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH PPP4R2.
[5]"An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs."
Chari A., Golas M.M., Klingenhager M., Neuenkirchen N., Sander B., Englbrecht C., Sickmann A., Stark H., Fischer U.
Cell 135:497-509(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN SNRNP BIOGENESIS, IDENTIFICATION IN SMN-SM COMPLEX.
[6]"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-205, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[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].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF173856 mRNA. Translation: AAF35283.1.
AC087392 Genomic DNA. No translation available.
AL080150 mRNA. Translation: CAB45743.3.
AL080167 mRNA. Translation: CAB45755.1.
PIRT12535.
RefSeqNP_056536.2. NM_015721.2.
UniGeneHs.499620.

3D structure databases

ProteinModelPortalP57678.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119102. 58 interactions.
IntActP57678. 22 interactions.
MINTMINT-124789.
STRING9606.ENSP00000321706.

PTM databases

PhosphoSiteP57678.

Polymorphism databases

DMDM322510030.

Proteomic databases

PaxDbP57678.
PRIDEP57678.

Protocols and materials databases

DNASU50628.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000319004; ENSP00000321706; ENSG00000179409.
GeneID50628.
KEGGhsa:50628.
UCSCuc002frs.1. human.

Organism-specific databases

CTD50628.
GeneCardsGC17M000693.
H-InvDBHIX0013389.
HGNCHGNC:15717. GEMIN4.
MIM606969. gene.
neXtProtNX_P57678.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG81539.
HOGENOMHOG000143409.
HOVERGENHBG051720.
InParanoidP57678.
KOK13132.
OMAYIFASEK.
OrthoDBEOG7MKW5F.
PhylomeDBP57678.
TreeFamTF329445.

Enzyme and pathway databases

ReactomeREACT_21257. Metabolism of RNA.
REACT_71. Gene Expression.

Gene expression databases

ArrayExpressP57678.
BgeeP57678.
CleanExHS_GEMIN4.
GenevestigatorP57678.

Family and domain databases

ProtoNetSearch...

Other

GeneWikiGEMIN4.
GenomeRNAi50628.
NextBio53160.
PROP57678.
SOURCESearch...

Entry information

Entry nameGEMI4_HUMAN
AccessionPrimary (citable) accession number: P57678
Secondary accession number(s): Q9NZS7, Q9UG32, Q9Y4Q2
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: February 8, 2011
Last modified: April 16, 2014
This is version 113 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM