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Q9H840

- GEMI7_HUMAN

UniProt

Q9H840 - GEMI7_HUMAN

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Protein

Gem-associated protein 7

Gene

GEMIN7

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.2 Publications

GO - Biological processi

  1. gene expression Source: Reactome
  2. mRNA splicing, via spliceosome Source: UniProtKB
  3. ncRNA metabolic process Source: Reactome
  4. RNA metabolic process Source: Reactome
  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 7
Short name:
Gemin-7
Alternative name(s):
SIP3
Gene namesi
Name:GEMIN7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:20045. GEMIN7.

Subcellular locationi

Nucleusnucleoplasm 1 Publication. Nucleusgem 1 Publication. Cytoplasm 1 Publication
Note: Found both in the nucleoplasm and in nuclear bodies called gems (Gemini of Cajal bodies) that are often in proximity to Cajal (coiled) bodies. Also found in the cytoplasm.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. cytosol Source: UniProtKB
  3. nuclear body Source: UniProtKB
  4. nucleoplasm Source: UniProtKB
  5. nucleus Source: HPA
  6. SMN complex Source: UniProtKB
  7. SMN-Sm protein complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134959810.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 131131Gem-associated protein 7PRO_0000087462Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine2 Publications

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ9H840.
PaxDbiQ9H840.
PeptideAtlasiQ9H840.
PRIDEiQ9H840.

PTM databases

PhosphoSiteiQ9H840.

Expressioni

Gene expression databases

BgeeiQ9H840.
CleanExiHS_GEMIN7.
GenevestigatoriQ9H840.

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

Protein-protein interaction databases

BioGridi122869. 18 interactions.
DIPiDIP-41750N.
IntActiQ9H840. 13 interactions.
MINTiMINT-240374.
STRINGi9606.ENSP00000270257.

Structurei

Secondary structure

1
131
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi51 – 7323Combined sources
Beta strandi76 – 827Combined sources
Helixi83 – 853Combined sources
Beta strandi87 – 959Combined sources
Beta strandi101 – 1077Combined sources
Beta strandi114 – 1207Combined sources
Helixi121 – 1233Combined sources
Beta strandi124 – 1296Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1Y96X-ray2.00B/D47-131[»]
ProteinModelPortaliQ9H840.
SMRiQ9H840. Positions 47-131.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9H840.

Family & Domainsi

Sequence similaritiesi

Belongs to the gemin-7 family.Curated

Phylogenomic databases

eggNOGiNOG40574.
GeneTreeiENSGT00390000018039.
HOGENOMiHOG000112710.
HOVERGENiHBG051723.
InParanoidiQ9H840.
KOiK13135.
OMAiCSDIIAY.
OrthoDBiEOG7SXW57.
PhylomeDBiQ9H840.

Family and domain databases

InterProiIPR020338. SMN_gemin7.
[Graphical view]
PfamiPF11095. Gemin7. 1 hit.
[Graphical view]
ProDomiPD296126. SMN_cplx_gem-assoc_protein_7. 1 hit.
[Graphical view] [Entries sharing at least one domain]

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_078983.1. NM_024707.2.
XP_005259319.1. XM_005259262.2.
XP_005259320.1. XM_005259263.2.
XP_005259321.1. XM_005259264.2.
UniGeneiHs.466919.

Genome annotation databases

EnsembliENST00000270257; ENSP00000270257; ENSG00000142252.
ENST00000391951; ENSP00000375813; ENSG00000142252.
ENST00000591607; ENSP00000466342; ENSG00000142252.
ENST00000591747; ENSP00000465704; ENSG00000142252.
GeneIDi79760.
KEGGihsa:79760.
UCSCiuc002pap.1. human.

Polymorphism databases

DMDMi34922127.

Cross-referencesi

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 .
CCDSi CCDS12654.1.
RefSeqi NP_001007270.1. NM_001007269.1.
NP_001007271.1. NM_001007270.1.
NP_078983.1. NM_024707.2.
XP_005259319.1. XM_005259262.2.
XP_005259320.1. XM_005259263.2.
XP_005259321.1. XM_005259264.2.
UniGenei Hs.466919.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1Y96 X-ray 2.00 B/D 47-131 [» ]
ProteinModelPortali Q9H840.
SMRi Q9H840. Positions 47-131.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122869. 18 interactions.
DIPi DIP-41750N.
IntActi Q9H840. 13 interactions.
MINTi MINT-240374.
STRINGi 9606.ENSP00000270257.

PTM databases

PhosphoSitei Q9H840.

Polymorphism databases

DMDMi 34922127.

Proteomic databases

MaxQBi Q9H840.
PaxDbi Q9H840.
PeptideAtlasi Q9H840.
PRIDEi Q9H840.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000270257 ; ENSP00000270257 ; ENSG00000142252 .
ENST00000391951 ; ENSP00000375813 ; ENSG00000142252 .
ENST00000591607 ; ENSP00000466342 ; ENSG00000142252 .
ENST00000591747 ; ENSP00000465704 ; ENSG00000142252 .
GeneIDi 79760.
KEGGi hsa:79760.
UCSCi uc002pap.1. human.

Organism-specific databases

CTDi 79760.
GeneCardsi GC19P045582.
HGNCi HGNC:20045. GEMIN7.
HPAi HPA052075.
MIMi 607419. gene.
neXtProti NX_Q9H840.
PharmGKBi PA134959810.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG40574.
GeneTreei ENSGT00390000018039.
HOGENOMi HOG000112710.
HOVERGENi HBG051723.
InParanoidi Q9H840.
KOi K13135.
OMAi CSDIIAY.
OrthoDBi EOG7SXW57.
PhylomeDBi Q9H840.

Enzyme and pathway databases

Reactomei REACT_11066. snRNP Assembly.

Miscellaneous databases

EvolutionaryTracei Q9H840.
GenomeRNAii 79760.
NextBioi 69225.
PROi Q9H840.
SOURCEi Search...

Gene expression databases

Bgeei Q9H840.
CleanExi HS_GEMIN7.
Genevestigatori Q9H840.

Family and domain databases

InterProi IPR020338. SMN_gemin7.
[Graphical view ]
Pfami PF11095. Gemin7. 1 hit.
[Graphical view ]
ProDomi PD296126. SMN_cplx_gem-assoc_protein_7. 1 hit.
[Graphical view ] [Entries sharing at least one domain ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex."
    Baccon J., Pellizzoni L., Rappsilber J., Mann M., Dreyfuss G.
    J. Biol. Chem. 277:31957-31962(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 30-57, FUNCTION, INTERACTION WITH SMN1; GEMIN6; SNRPB; SNRPD2; SNRPD3 AND SNRPE, SUBCELLULAR LOCATION.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Retinoblastoma.
  3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Uterus.
  6. "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.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
    Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
    Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "The Gemin6-Gemin7 heterodimer from the survival of motor neurons complex has an Sm protein-like structure."
    Ma Y., Dostie J., Dreyfuss G., Van Duyne G.D.
    Structure 13:883-892(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 47-131 IN COMPLEX WITH GEMIN6, INTERACTION WITH SNRPB; SNRPD2; SNRPD3 AND SNRPE.

Entry informationi

Entry nameiGEMI7_HUMAN
AccessioniPrimary (citable) accession number: Q9H840
Secondary accession number(s): Q6IA34
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2003
Last sequence update: March 1, 2001
Last modified: November 26, 2014
This is version 115 of the entry and version 1 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

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

External Data

Dasty 3