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Protein

Gem-associated protein 7

Gene

GEMIN7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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.2 Publications

GO - Biological processi

  • mRNA splicing, via spliceosome Source: UniProtKB
  • nuclear import Source: Reactome
  • spliceosomal snRNP assembly Source: UniProtKB

Keywordsi

Biological processmRNA processing, mRNA splicing

Enzyme and pathway databases

ReactomeiR-HSA-191859. snRNP Assembly.
SIGNORiQ9H840.

Names & Taxonomyi

Protein namesi
Recommended name:
Gem-associated protein 7
Short name:
Gemin-7
Alternative name(s):
SIP3
Gene namesi
Name:GEMIN7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000142252.10.
HGNCiHGNC:20045. GEMIN7.

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

DisGeNETi79760.
OpenTargetsiENSG00000142252.
PharmGKBiPA134959810.

Polymorphism and mutation databases

BioMutaiGEMIN7.
DMDMi34922127.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000874621 – 131Gem-associated protein 7Add BLAST131

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei3PhosphothreonineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9H840.
MaxQBiQ9H840.
PaxDbiQ9H840.
PeptideAtlasiQ9H840.
PRIDEiQ9H840.

PTM databases

iPTMnetiQ9H840.
PhosphoSitePlusiQ9H840.

Expressioni

Gene expression databases

BgeeiENSG00000142252.
CleanExiHS_GEMIN7.
GenevisibleiQ9H840. HS.

Organism-specific databases

HPAiHPA052075.

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 GEMIN6, SNRPB, SNRPD2, SNRPD3 and SNRPE.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
GEMIN6Q8WXD515EBI-715455,EBI-752301

Protein-protein interaction databases

BioGridi122869. 44 interactors.
CORUMiQ9H840.
DIPiDIP-41750N.
IntActiQ9H840. 36 interactors.
MINTiMINT-240374.
STRINGi9606.ENSP00000270257.

Structurei

Secondary structure

1131
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi51 – 73Combined sources23
Beta strandi76 – 82Combined sources7
Helixi83 – 85Combined sources3
Beta strandi87 – 95Combined sources9
Beta strandi101 – 107Combined sources7
Beta strandi114 – 120Combined sources7
Helixi121 – 123Combined sources3
Beta strandi124 – 129Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Y96X-ray2.00B/D47-131[»]
ProteinModelPortaliQ9H840.
SMRiQ9H840.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9H840.

Family & Domainsi

Sequence similaritiesi

Belongs to the gemin-7 family.Curated

Phylogenomic databases

eggNOGiENOG410IYUI. Eukaryota.
ENOG410XZWW. LUCA.
GeneTreeiENSGT00390000018039.
HOGENOMiHOG000112710.
HOVERGENiHBG051723.
InParanoidiQ9H840.
KOiK13135.
OMAiDIIAYTF.
OrthoDBiEOG091G13DZ.
PhylomeDBiQ9H840.

Family and domain databases

CDDicd11677. Gemin7. 1 hit.
InterProiView protein in InterPro
IPR020338. SMN_gemin7.
PfamiView protein in Pfam
PF11095. Gemin7. 1 hit.
ProDomiView protein in ProDom or Entries sharing at least one domain
PD296126. SMN_cplx_gem-assoc_protein_7. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9H840-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MQTPVNIPVP VLRLPRGPDG FSRGFAPDGR RAPLRPEVPE IQECPIAQES
60 70 80 90 100
LESQEQRARA ALRERYLRSL LAMVGHQVSF TLHEGVRVAA HFGATDLDVA
110 120 130
NFYVSQLQTP IGVQAEALLR CSDIISYTFK P
Length:131
Mass (Da):14,537
Last modified:March 1, 2001 - v1
Checksum:i6E118922AFDCF567
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY114106 mRNA. Translation: AAM44083.1.
AK024018 mRNA. Translation: BAB14780.1.
CR457321 mRNA. Translation: CAG33602.1.
CH471126 Genomic DNA. Translation: EAW57321.1.
BC007793 mRNA. Translation: AAH07793.1.
CCDSiCCDS12654.1.
RefSeqiNP_001007270.1. NM_001007269.1.
NP_001007271.1. NM_001007270.1.
NP_001305983.1. NM_001319054.1.
NP_001305984.1. NM_001319055.1.
NP_078983.1. NM_024707.2.
XP_005259319.1. XM_005259262.3.
XP_005259320.1. XM_005259263.4.
XP_016882801.1. XM_017027312.1.
UniGeneiHs.466919.

Genome annotation databases

EnsembliENST00000270257; ENSP00000270257; ENSG00000142252.
ENST00000391951; ENSP00000375813; ENSG00000142252.
ENST00000591607; ENSP00000466342; ENSG00000142252.
ENST00000591747; ENSP00000465704; ENSG00000142252.
GeneIDi79760.
KEGGihsa:79760.
UCSCiuc002pap.2. human.

Similar proteinsi

Entry informationi

Entry nameiGEMI7_HUMAN
AccessioniPrimary (citable) accession number: Q9H840
Secondary accession number(s): Q6IA34
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2003
Last sequence update: March 1, 2001
Last modified: October 25, 2017
This is version 143 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 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families