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Protein

Gem-associated protein 4

Gene

GEMIN4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • import into nucleus Source: Reactome
  • rRNA processing Source: ProtInc
  • spliceosomal snRNP assembly Source: UniProtKB

Keywordsi

Biological processmRNA processing, mRNA splicing

Enzyme and pathway databases

ReactomeiR-HSA-191859 snRNP Assembly
SIGNORiP57678

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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000179409.10
HGNCiHGNC:15717 GEMIN4
MIMi606969 gene
neXtProtiNX_P57678

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (NEDMCR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, severe neurodevelopmental disorder characterized by global developmental delay since infancy, microcephaly, poor or absent speech, and inability to walk or spasticity. Additional features include renal abnormalities, congenital cataracts, gastroesophageal reflux disease, seizures with onset in infancy or childhood, hyporeflexia, and non-specific white matter abnormalities on brain imaging.
See also OMIM:617913
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080610818W → R in NEDMCR; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs730882219EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi50628
MalaCardsiGEMIN4
MIMi617913 phenotype
OpenTargetsiENSG00000179409

Polymorphism and mutation databases

BioMutaiGEMIN4
DMDMi322510030

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000874591 – 1058Gem-associated protein 4Add BLAST1058

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei84PhosphothreonineCombined sources1
Modified residuei86PhosphoserineCombined sources1
Modified residuei205PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP57678
MaxQBiP57678
PaxDbiP57678
PeptideAtlasiP57678
PRIDEiP57678
ProteomicsDBi57005

PTM databases

iPTMnetiP57678
PhosphoSitePlusiP57678

Expressioni

Gene expression databases

BgeeiENSG00000179409 Expressed in 197 organ(s), highest expression level in testis
CleanExiHS_GEMIN4
ExpressionAtlasiP57678 baseline and differential
GenevisibleiP57678 HS

Organism-specific databases

HPAiHPA065699
HPA067891

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

Binary interactionsi

Protein-protein interaction databases

BioGridi119102, 115 interactors
CORUMiP57678
IntActiP57678, 58 interactors
MINTiP57678
STRINGi9606.ENSP00000321706

Structurei

3D structure databases

ProteinModelPortaliP57678
SMRiP57678
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni714 – 735Leucine-zipperSequence analysisAdd BLAST22

Phylogenomic databases

eggNOGiENOG410IET3 Eukaryota
ENOG410XYXX LUCA
GeneTreeiENSGT00390000012296
HOGENOMiHOG000143409
HOVERGENiHBG051720
InParanoidiP57678
KOiK13132
OMAiEKKWAFS
OrthoDBiEOG091G010W
PhylomeDBiP57678
TreeFamiTF329445

Family and domain databases

InterProiView protein in InterPro
IPR033265 GEMIN4
PANTHERiPTHR15571 PTHR15571, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L2C7I3L2C7_HUMAN
Gem-associated protein 4
GEMIN4
1,047Annotation score:
I3L4M4I3L4M4_HUMAN
Gem-associated protein 4
GEMIN4
189Annotation score:
I3L399I3L399_HUMAN
Gem-associated protein 4
GEMIN4
296Annotation score:
I3L4A4I3L4A4_HUMAN
Gem-associated protein 4
GEMIN4
271Annotation score:
E7EN12E7EN12_HUMAN
Gem-associated protein 4
GEMIN4
184Annotation score:
I3L1J7I3L1J7_HUMAN
Gem-associated protein 4
GEMIN4
70Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti163V → I in AAF35283 (PubMed:10725331).Curated1
Sequence conflicti450Q → E in AAF35283 (PubMed:10725331).Curated1
Sequence conflicti450Q → E in CAB45743 (PubMed:11230166).Curated1
Sequence conflicti593E → V in AAF35283 (PubMed:10725331).Curated1
Sequence conflicti593E → V in CAB45743 (PubMed:11230166).Curated1
Sequence conflicti713Q → P in AAF35283 (PubMed:10725331).Curated1
Sequence conflicti929D → N in AAF35283 (PubMed:10725331).Curated1
Sequence conflicti929D → N in CAB45755 (PubMed:11230166).Curated1
Sequence conflicti929D → N in CAB45743 (PubMed:11230166).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_056891182F → L. Corresponds to variant dbSNP:rs34604548Ensembl.1
Natural variantiVAR_056892502I → V. Corresponds to variant dbSNP:rs34616851Ensembl.1
Natural variantiVAR_024317579A → G. Corresponds to variant dbSNP:rs910925Ensembl.1
Natural variantiVAR_021971684R → Q. Corresponds to variant dbSNP:rs3744741Ensembl.1
Natural variantiVAR_056893739I → T. Corresponds to variant dbSNP:rs1062923Ensembl.1
Natural variantiVAR_056894749P → L. Corresponds to variant dbSNP:rs8078660Ensembl.1
Natural variantiVAR_056895782F → L. Corresponds to variant dbSNP:rs34452716Ensembl.1
Natural variantiVAR_080610818W → R in NEDMCR; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs730882219EnsemblClinVar.1
Natural variantiVAR_056896824V → F. Corresponds to variant dbSNP:rs34936176Ensembl.1
Natural variantiVAR_056897913V → I. Corresponds to variant dbSNP:rs34610323Ensembl.1
Natural variantiVAR_0203901033R → C. Corresponds to variant dbSNP:rs7813Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliP57678
SMRiP57678
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119102, 115 interactors
CORUMiP57678
IntActiP57678, 58 interactors
MINTiP57678
STRINGi9606.ENSP00000321706

PTM databases

iPTMnetiP57678
PhosphoSitePlusiP57678

Polymorphism and mutation databases

BioMutaiGEMIN4
DMDMi322510030

Proteomic databases

EPDiP57678
MaxQBiP57678
PaxDbiP57678
PeptideAtlasiP57678
PRIDEiP57678
ProteomicsDBi57005

Protocols and materials databases

DNASUi50628
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000319004; ENSP00000321706; ENSG00000179409
GeneIDi50628
KEGGihsa:50628
UCSCiuc002frs.2 human

Organism-specific databases

CTDi50628
DisGeNETi50628
EuPathDBiHostDB:ENSG00000179409.10
GeneCardsiGEMIN4
H-InvDBiHIX0013389
HGNCiHGNC:15717 GEMIN4
HPAiHPA065699
HPA067891
MalaCardsiGEMIN4
MIMi606969 gene
617913 phenotype
neXtProtiNX_P57678
OpenTargetsiENSG00000179409
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IET3 Eukaryota
ENOG410XYXX LUCA
GeneTreeiENSGT00390000012296
HOGENOMiHOG000143409
HOVERGENiHBG051720
InParanoidiP57678
KOiK13132
OMAiEKKWAFS
OrthoDBiEOG091G010W
PhylomeDBiP57678
TreeFamiTF329445

Enzyme and pathway databases

ReactomeiR-HSA-191859 snRNP Assembly
SIGNORiP57678

Miscellaneous databases

GeneWikiiGEMIN4
GenomeRNAii50628
PROiPR:P57678
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179409 Expressed in 197 organ(s), highest expression level in testis
CleanExiHS_GEMIN4
ExpressionAtlasiP57678 baseline and differential
GenevisibleiP57678 HS

Family and domain databases

InterProiView protein in InterPro
IPR033265 GEMIN4
PANTHERiPTHR15571 PTHR15571, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGEMI4_HUMAN
AccessioniPrimary (citable) accession number: P57678
Secondary accession number(s): Q9NZS7, Q9UG32, Q9Y4Q2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: February 8, 2011
Last modified: November 7, 2018
This is version 155 of the entry and version 2 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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