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Protein

Gem-associated protein 6

Gene

GEMIN6

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
  • mRNA splicing, via spliceosome Source: UniProtKB
  • spliceosomal complex assembly Source: InterPro
  • spliceosomal snRNP assembly Source: UniProtKB

Keywordsi

Biological processmRNA processing, mRNA splicing

Enzyme and pathway databases

ReactomeiR-HSA-191859 snRNP Assembly
SIGNORiQ8WXD5

Names & Taxonomyi

Protein namesi
Recommended name:
Gem-associated protein 6
Short name:
Gemin-6
Alternative name(s):
SIP2
Gene namesi
Name:GEMIN6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000152147.10
HGNCiHGNC:20044 GEMIN6
MIMi607006 gene
neXtProtiNX_Q8WXD5

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

DisGeNETi79833
OpenTargetsiENSG00000152147
PharmGKBiPA134952855

Polymorphism and mutation databases

BioMutaiGEMIN6
DMDMi34921901

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000874601 – 167Gem-associated protein 6Add BLAST167

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei95PhosphoserineCombined sources1
Modified residuei166PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8WXD5
MaxQBiQ8WXD5
PaxDbiQ8WXD5
PeptideAtlasiQ8WXD5
PRIDEiQ8WXD5

PTM databases

iPTMnetiQ8WXD5
PhosphoSitePlusiQ8WXD5

Expressioni

Gene expression databases

BgeeiENSG00000152147
CleanExiHS_GEMIN6
ExpressionAtlasiQ8WXD5 baseline and differential
GenevisibleiQ8WXD5 HS

Organism-specific databases

HPAiHPA035726
HPA035727

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 GEMIN7, SNRPB, SNRPD2, SNRPD3 and SNRPE.4 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi122925, 41 interactors
CORUMiQ8WXD5
DIPiDIP-41331N
IntActiQ8WXD5, 23 interactors
MINTiQ8WXD5
STRINGi9606.ENSP00000281950

Structurei

Secondary structure

1167
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi3 – 6Combined sources4
Helixi9 – 14Combined sources6
Turni15 – 17Combined sources3
Beta strandi19 – 24Combined sources6
Turni25 – 27Combined sources3
Beta strandi28 – 37Combined sources10
Turni39 – 41Combined sources3
Beta strandi44 – 49Combined sources6
Beta strandi55 – 60Combined sources6
Helixi62 – 64Combined sources3
Beta strandi65 – 72Combined sources8
Helixi76 – 83Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Y96X-ray2.00A/C1-86[»]
ProteinModelPortaliQ8WXD5
SMRiQ8WXD5
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8WXD5

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IIGY Eukaryota
ENOG4111UD8 LUCA
GeneTreeiENSGT00390000006712
HOGENOMiHOG000008109
HOVERGENiHBG051722
InParanoidiQ8WXD5
KOiK13134
OMAiQDLIQGH
OrthoDBiEOG091G0ZVV
PhylomeDBiQ8WXD5
TreeFamiTF314693

Family and domain databases

InterProiView protein in InterPro
IPR009422 Gemin6
PANTHERiPTHR14710 PTHR14710, 1 hit
PfamiView protein in Pfam
PF06372 Gemin6, 1 hit

Sequencei

Sequence statusi: Complete.

Q8WXD5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSEWMKKGPL EWQDYIYKEV RVTASEKNEY KGWVLTTDPV SANIVLVNFL
60 70 80 90 100
EDGSMSVTGI MGHAVQTVET MNEGDHRVRE KLMHLFTSGD CKAYSPEDLE
110 120 130 140 150
ERKNSLKKWL EKNHIPITEQ GDAPRTLCVA GVLTIDPPYG PENCSSSNEI
160
ILSRVQDLIE GHLTASQ
Length:167
Mass (Da):18,824
Last modified:March 1, 2002 - v1
Checksum:i908EEFDA73A0C07F
GO

Sequence cautioni

The sequence BAB15660 differs from that shown. Reason: Frameshift at position 142.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_020391140G → D1 PublicationCorresponds to variant dbSNP:rs1056104Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF453443 mRNA Translation: AAL48292.1
AK027112 mRNA Translation: BAB15660.1 Frameshift.
AK315627 mRNA Translation: BAG37995.1
AC018693 Genomic DNA Translation: AAY24255.1
CH471053 Genomic DNA Translation: EAX00360.1
BC018195 mRNA Translation: AAH18195.1
CCDSiCCDS1799.1
RefSeqiNP_079051.9, NM_024775.9
UniGeneiHs.143818

Genome annotation databases

EnsembliENST00000281950; ENSP00000281950; ENSG00000152147
GeneIDi79833
KEGGihsa:79833
UCSCiuc002rrc.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGEMI6_HUMAN
AccessioniPrimary (citable) accession number: Q8WXD5
Secondary accession number(s): B2RDP8
, Q53SI5, Q8WVB4, Q9H5G6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2003
Last sequence update: March 1, 2002
Last modified: May 23, 2018
This is version 153 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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