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P57678

- GEMI4_HUMAN

UniProt

P57678 - GEMI4_HUMAN

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Protein

Gem-associated protein 4

Gene

GEMIN4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Biological processi

  1. gene expression Source: Reactome
  2. ncRNA metabolic process Source: Reactome
  3. RNA metabolic process Source: Reactome
  4. rRNA processing Source: ProtInc
  5. spliceosomal snRNP assembly Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

mRNA processing, mRNA splicing

Enzyme and pathway databases

ReactomeiREACT_11066. snRNP Assembly.

Names & Taxonomyi

Protein namesi
Recommended name:
Gem-associated protein 4
Short name:
Gemin-4
Alternative name(s):
Component of gems 4
p97
Gene namesi
Name:GEMIN4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:15717. GEMIN4.

Subcellular locationi

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.

GO - Cellular componenti

  1. cytoplasm Source: ProtInc
  2. cytosol Source: UniProtKB
  3. extracellular vesicular exosome Source: UniProt
  4. membrane Source: UniProtKB
  5. nucleolus Source: ProtInc
  6. nucleoplasm Source: Reactome
  7. small nuclear ribonucleoprotein complex Source: ProtInc
  8. SMN complex Source: UniProtKB
  9. SMN-Sm protein complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10581058Gem-associated protein 4PRO_0000087459Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication
Modified residuei205 – 2051Phosphoserine1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiP57678.
PaxDbiP57678.
PRIDEiP57678.

PTM databases

PhosphoSiteiP57678.

Expressioni

Gene expression databases

BgeeiP57678.
CleanExiHS_GEMIN4.
ExpressionAtlasiP57678. baseline and differential.
GenevestigatoriP57678.

Interactioni

Subunit structurei

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 PPP4R2.2 Publications

Protein-protein interaction databases

BioGridi119102. 66 interactions.
IntActiP57678. 22 interactions.
MINTiMINT-124789.
STRINGi9606.ENSP00000321706.

Structurei

3D structure databases

ProteinModelPortaliP57678.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni714 – 73522Leucine-zipperSequence AnalysisAdd
BLAST

Phylogenomic databases

eggNOGiNOG81539.
GeneTreeiENSGT00390000012296.
HOGENOMiHOG000143409.
HOVERGENiHBG051720.
InParanoidiP57678.
KOiK13132.
OMAiYIFASEK.
OrthoDBiEOG7MKW5F.
PhylomeDBiP57678.
TreeFamiTF329445.

Sequencei

Sequence statusi: Complete.

P57678-1 [UniParc]FASTAAdd to Basket

« Hide

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

LLQKMSSF
Length:1,058
Mass (Da):120,037
Last modified:February 8, 2011 - v2
Checksum:iACEC60EC19EF5081
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti163 – 1631V → I in AAF35283. (PubMed:10725331)Curated
Sequence conflicti450 – 4501Q → E in AAF35283. (PubMed:10725331)Curated
Sequence conflicti450 – 4501Q → E in CAB45743. (PubMed:11230166)Curated
Sequence conflicti593 – 5931E → V in AAF35283. (PubMed:10725331)Curated
Sequence conflicti593 – 5931E → V in CAB45743. (PubMed:11230166)Curated
Sequence conflicti713 – 7131Q → P in AAF35283. (PubMed:10725331)Curated
Sequence conflicti929 – 9291D → N in AAF35283. (PubMed:10725331)Curated
Sequence conflicti929 – 9291D → N in CAB45755. (PubMed:11230166)Curated
Sequence conflicti929 – 9291D → N in CAB45743. (PubMed:11230166)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti182 – 1821F → L.
Corresponds to variant rs34604548 [ dbSNP | Ensembl ].
VAR_056891
Natural varianti502 – 5021I → V.
Corresponds to variant rs34616851 [ dbSNP | Ensembl ].
VAR_056892
Natural varianti579 – 5791A → G.
Corresponds to variant rs910925 [ dbSNP | Ensembl ].
VAR_024317
Natural varianti684 – 6841R → Q.
Corresponds to variant rs3744741 [ dbSNP | Ensembl ].
VAR_021971
Natural varianti739 – 7391I → T.
Corresponds to variant rs1062923 [ dbSNP | Ensembl ].
VAR_056893
Natural varianti749 – 7491P → L.
Corresponds to variant rs8078660 [ dbSNP | Ensembl ].
VAR_056894
Natural varianti782 – 7821F → L.
Corresponds to variant rs34452716 [ dbSNP | Ensembl ].
VAR_056895
Natural varianti824 – 8241V → F.
Corresponds to variant rs34936176 [ dbSNP | Ensembl ].
VAR_056896
Natural varianti913 – 9131V → I.
Corresponds to variant rs34610323 [ dbSNP | Ensembl ].
VAR_056897
Natural varianti1033 – 10331R → C.
Corresponds to variant rs7813 [ dbSNP | Ensembl ].
VAR_020390

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF173856 mRNA. Translation: AAF35283.1.
AC087392 Genomic DNA. No translation available.
AL080150 mRNA. Translation: CAB45743.3.
AL080167 mRNA. Translation: CAB45755.1.
CCDSiCCDS45559.1.
PIRiT12535.
RefSeqiNP_056536.2. NM_015721.2.
UniGeneiHs.499620.

Genome annotation databases

EnsembliENST00000319004; ENSP00000321706; ENSG00000179409.
GeneIDi50628.
KEGGihsa:50628.
UCSCiuc002frs.1. human.

Polymorphism databases

DMDMi322510030.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF173856 mRNA. Translation: AAF35283.1 .
AC087392 Genomic DNA. No translation available.
AL080150 mRNA. Translation: CAB45743.3 .
AL080167 mRNA. Translation: CAB45755.1 .
CCDSi CCDS45559.1.
PIRi T12535.
RefSeqi NP_056536.2. NM_015721.2.
UniGenei Hs.499620.

3D structure databases

ProteinModelPortali P57678.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119102. 66 interactions.
IntActi P57678. 22 interactions.
MINTi MINT-124789.
STRINGi 9606.ENSP00000321706.

PTM databases

PhosphoSitei P57678.

Polymorphism databases

DMDMi 322510030.

Proteomic databases

MaxQBi P57678.
PaxDbi P57678.
PRIDEi P57678.

Protocols and materials databases

DNASUi 50628.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000319004 ; ENSP00000321706 ; ENSG00000179409 .
GeneIDi 50628.
KEGGi hsa:50628.
UCSCi uc002frs.1. human.

Organism-specific databases

CTDi 50628.
GeneCardsi GC17M000705.
H-InvDB HIX0013389.
HGNCi HGNC:15717. GEMIN4.
MIMi 606969. gene.
neXtProti NX_P57678.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG81539.
GeneTreei ENSGT00390000012296.
HOGENOMi HOG000143409.
HOVERGENi HBG051720.
InParanoidi P57678.
KOi K13132.
OMAi YIFASEK.
OrthoDBi EOG7MKW5F.
PhylomeDBi P57678.
TreeFami TF329445.

Enzyme and pathway databases

Reactomei REACT_11066. snRNP Assembly.

Miscellaneous databases

GeneWikii GEMIN4.
GenomeRNAii 50628.
NextBioi 53160.
PROi P57678.
SOURCEi Search...

Gene expression databases

Bgeei P57678.
CleanExi HS_GEMIN4.
ExpressionAtlasi P57678. baseline and differential.
Genevestigatori P57678.

Family and domain databases

ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiGEMI4_HUMAN
AccessioniPrimary (citable) accession number: P57678
Secondary accession number(s): Q9NZS7, Q9UG32, Q9Y4Q2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: February 8, 2011
Last modified: October 29, 2014
This is version 119 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3