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Q9H840

- GEMI7_HUMAN

UniProt

Q9H840 - GEMI7_HUMAN

Protein

Gem-associated protein 7

Gene

GEMIN7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. 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 - Molecular functioni

    1. protein binding Source: UniProtKB

    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

    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. Gemini of coiled bodies Source: UniProtKB-SubCell
    4. nuclear body Source: UniProtKB
    5. nucleoplasm Source: UniProtKB
    6. nucleus Source: HPA
    7. SMN complex Source: UniProtKB
    8. SMN-Sm protein complex Source: UniProtKB

    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 – 7323
    Beta strandi76 – 827
    Helixi83 – 853
    Beta strandi87 – 959
    Beta strandi101 – 1077
    Beta strandi114 – 1207
    Helixi121 – 1233
    Beta strandi124 – 1296

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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.
    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

    MQTPVNIPVP VLRLPRGPDG FSRGFAPDGR RAPLRPEVPE IQECPIAQES    50
    LESQEQRARA ALRERYLRSL LAMVGHQVSF TLHEGVRVAA HFGATDLDVA 100
    NFYVSQLQTP IGVQAEALLR CSDIISYTFK P 131
    Length:131
    Mass (Da):14,537
    Last modified:March 1, 2001 - v1
    Checksum:i6E118922AFDCF567
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    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.
    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

    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: October 1, 2014
    This is version 113 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