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Protein

Gem-associated protein 8

Gene

GEMIN8

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.2 Publications

GO - Biological processi

  • import into nucleus Source: Reactome
  • spliceosomal snRNP assembly Source: UniProtKB

Keywordsi

Biological processmRNA processing, mRNA splicing

Enzyme and pathway databases

ReactomeiR-HSA-191859 snRNP Assembly

Names & Taxonomyi

Protein namesi
Recommended name:
Gem-associated protein 8
Short name:
Gemin-8
Alternative name(s):
Protein FAM51A1
Gene namesi
Name:GEMIN8
Synonyms:FAM51A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000046647.13
HGNCiHGNC:26044 GEMIN8
MIMi300962 gene
neXtProtiNX_Q9NWZ8

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

Organism-specific databases

DisGeNETi54960
OpenTargetsiENSG00000046647
PharmGKBiPA162389344

Polymorphism and mutation databases

BioMutaiGEMIN8
DMDMi52782795

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000871551 – 242Gem-associated protein 8Add BLAST242

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei117PhosphoserineCombined sources1
Modified residuei124PhosphothreonineCombined sources1
Modified residuei126PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NWZ8
MaxQBiQ9NWZ8
PaxDbiQ9NWZ8
PeptideAtlasiQ9NWZ8
PRIDEiQ9NWZ8
ProteomicsDBi83006

PTM databases

iPTMnetiQ9NWZ8
PhosphoSitePlusiQ9NWZ8

Expressioni

Gene expression databases

BgeeiENSG00000046647
CleanExiHS_GEMIN8
ExpressionAtlasiQ9NWZ8 baseline and differential
GenevisibleiQ9NWZ8 HS

Organism-specific databases

HPAiHPA028613

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 SMN1 and with the GEMIN6-GEMIN7 heterodimer, mediating their interaction.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
SMN2Q16637-34EBI-2626001,EBI-395447

Protein-protein interaction databases

BioGridi120298, 31 interactors
CORUMiQ9NWZ8
IntActiQ9NWZ8, 7 interactors
STRINGi9606.ENSP00000369895

Structurei

3D structure databases

ProteinModelPortaliQ9NWZ8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili135 – 168Sequence analysisAdd BLAST34

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IWPF Eukaryota
ENOG4111HJ5 LUCA
GeneTreeiENSGT00390000013608
HOGENOMiHOG000049212
HOVERGENiHBG051527
InParanoidiQ9NWZ8
KOiK13136
OMAiMAWMRSH
OrthoDBiEOG091G0H89
PhylomeDBiQ9NWZ8
TreeFamiTF328591

Family and domain databases

InterProiView protein in InterPro
IPR034754 GEMIN8
PANTHERiPTHR16238 PTHR16238, 1 hit
PfamiView protein in Pfam
PF15348 GEMIN8, 1 hit

Sequencei

Sequence statusi: Complete.

Q9NWZ8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAVKASTSK ATRPWYSHPV YARYWQHYHQ AMAWMQSHHN AYRKAVESCF
60 70 80 90 100
NLPWYLPSAL LPQSSYDNEA AYPQSFYDHH VAWQDYPCSS SHFRRSGQHP
110 120 130 140 150
RYSSRIQAST KEDQALSKEE EMETESDAEV ECDLSNMEIT EELRQYFAET
160 170 180 190 200
ERHREERRRQ QQLDAERLDS YVNADHDLYC NTRRSVEAPT ERPGERRQAE
210 220 230 240
MKRLYGDSAA KIQAMEAAVQ LSFDKHCDRK QPKYWPVIPL KF
Length:242
Mass (Da):28,637
Last modified:October 1, 2000 - v1
Checksum:i1D82C932F1A930A2
GO

Sequence cautioni

The sequence BAC86038 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051011195E → V. Corresponds to variant dbSNP:rs3747421Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ224033 mRNA Translation: ABB46495.1
AK000521 mRNA Translation: BAA91227.1
AK125062 mRNA Translation: BAC86038.1 Different initiation.
CR457241 mRNA Translation: CAG33522.1
AC003035 Genomic DNA No translation available.
CH471074 Genomic DNA Translation: EAW98851.1
BC003607 mRNA Translation: AAH03607.1
BC014324 mRNA Translation: AAH14324.1
BC020785 mRNA Translation: AAH20785.1
CCDSiCCDS14159.1
RefSeqiNP_001035944.1, NM_001042479.1
NP_001035945.1, NM_001042480.1
NP_060326.1, NM_017856.2
XP_016885106.1, XM_017029617.1
XP_016885107.1, XM_017029618.1
UniGeneiHs.592237

Genome annotation databases

EnsembliENST00000380523; ENSP00000369895; ENSG00000046647
ENST00000398355; ENSP00000381398; ENSG00000046647
GeneIDi54960
KEGGihsa:54960
UCSCiuc004cwb.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGEMI8_HUMAN
AccessioniPrimary (citable) accession number: Q9NWZ8
Secondary accession number(s): C4AMC4, Q2LJ66, Q6ZV27
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 27, 2004
Last sequence update: October 1, 2000
Last modified: June 20, 2018
This is version 122 of the entry and version 1 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

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