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Q8WXD5

- GEMI6_HUMAN

UniProt

Q8WXD5 - GEMI6_HUMAN

Protein

Gem-associated protein 6

Gene

GEMIN6

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 complex assembly Source: InterPro
    6. 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 6
    Short name:
    Gemin-6
    Alternative name(s):
    SIP2
    Gene namesi
    Name:GEMIN6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:20044. GEMIN6.

    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. SMN complex Source: UniProtKB
    7. SMN-Sm protein complex Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134952855.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 167167Gem-associated protein 6PRO_0000087460Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei166 – 1661Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ8WXD5.
    PaxDbiQ8WXD5.
    PRIDEiQ8WXD5.

    PTM databases

    PhosphoSiteiQ8WXD5.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8WXD5.
    BgeeiQ8WXD5.
    CleanExiHS_GEMIN6.
    GenevestigatoriQ8WXD5.

    Organism-specific databases

    HPAiHPA035726.

    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

    WithEntry#Exp.IntActNotes
    vprP125203EBI-752301,EBI-6164519From a different organism.

    Protein-protein interaction databases

    BioGridi122925. 15 interactions.
    DIPiDIP-41331N.
    IntActiQ8WXD5. 5 interactions.
    MINTiMINT-225684.
    STRINGi9606.ENSP00000281950.

    Structurei

    Secondary structure

    1
    167
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi3 – 64
    Helixi9 – 146
    Turni15 – 173
    Beta strandi19 – 246
    Turni25 – 273
    Beta strandi28 – 3710
    Turni39 – 413
    Beta strandi44 – 496
    Beta strandi55 – 606
    Helixi62 – 643
    Beta strandi65 – 728
    Helixi76 – 838

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1Y96X-ray2.00A/C1-86[»]
    ProteinModelPortaliQ8WXD5.
    SMRiQ8WXD5. Positions 1-86.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ8WXD5.

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG44456.
    HOGENOMiHOG000008109.
    HOVERGENiHBG051722.
    InParanoidiQ8WXD5.
    KOiK13134.
    OMAiLEWQDYT.
    PhylomeDBiQ8WXD5.
    TreeFamiTF314693.

    Family and domain databases

    InterProiIPR009422. Gemin6.
    [Graphical view]
    PfamiPF06372. Gemin6. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8WXD5-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSEWMKKGPL EWQDYIYKEV RVTASEKNEY KGWVLTTDPV SANIVLVNFL    50
    EDGSMSVTGI MGHAVQTVET MNEGDHRVRE KLMHLFTSGD CKAYSPEDLE 100
    ERKNSLKKWL EKNHIPITEQ GDAPRTLCVA GVLTIDPPYG PENCSSSNEI 150
    ILSRVQDLIE GHLTASQ 167
    Length:167
    Mass (Da):18,824
    Last modified:March 1, 2002 - v1
    Checksum:i908EEFDA73A0C07F
    GO

    Sequence cautioni

    The sequence BAB15660.1 differs from that shown. Reason: Frameshift at position 142.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti140 – 1401G → D.1 Publication
    Corresponds to variant rs1056104 [ dbSNP | Ensembl ].
    VAR_020391

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.3. human.

    Polymorphism databases

    DMDMi34921901.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS1799.1.
    RefSeqi NP_079051.9. NM_024775.9.
    UniGenei Hs.143818.

    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 A/C 1-86 [» ]
    ProteinModelPortali Q8WXD5.
    SMRi Q8WXD5. Positions 1-86.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122925. 15 interactions.
    DIPi DIP-41331N.
    IntActi Q8WXD5. 5 interactions.
    MINTi MINT-225684.
    STRINGi 9606.ENSP00000281950.

    PTM databases

    PhosphoSitei Q8WXD5.

    Polymorphism databases

    DMDMi 34921901.

    Proteomic databases

    MaxQBi Q8WXD5.
    PaxDbi Q8WXD5.
    PRIDEi Q8WXD5.

    Protocols and materials databases

    DNASUi 79833.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000281950 ; ENSP00000281950 ; ENSG00000152147 .
    GeneIDi 79833.
    KEGGi hsa:79833.
    UCSCi uc002rrc.3. human.

    Organism-specific databases

    CTDi 79833.
    GeneCardsi GC02P038916.
    HGNCi HGNC:20044. GEMIN6.
    HPAi HPA035726.
    MIMi 607006. gene.
    neXtProti NX_Q8WXD5.
    PharmGKBi PA134952855.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG44456.
    HOGENOMi HOG000008109.
    HOVERGENi HBG051722.
    InParanoidi Q8WXD5.
    KOi K13134.
    OMAi LEWQDYT.
    PhylomeDBi Q8WXD5.
    TreeFami TF314693.

    Enzyme and pathway databases

    Reactomei REACT_11066. snRNP Assembly.

    Miscellaneous databases

    EvolutionaryTracei Q8WXD5.
    GeneWikii Gem-associated_protein_6.
    GenomeRNAii 79833.
    NextBioi 69481.
    PROi Q8WXD5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8WXD5.
    Bgeei Q8WXD5.
    CleanExi HS_GEMIN6.
    Genevestigatori Q8WXD5.

    Family and domain databases

    InterProi IPR009422. Gemin6.
    [Graphical view ]
    Pfami PF06372. Gemin6. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component."
      Pellizzoni L., Baccon J., Rappsilber J., Mann M., Dreyfuss G.
      J. Biol. Chem. 277:7540-7545(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 155-167, FUNCTION, INTERACTION WITH 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: Small intestine.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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], VARIANT ASP-140.
      Tissue: Ovary.
    6. "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: INTERACTION WITH GEMIN7.
    7. "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.
    8. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-166, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "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 1-86 IN COMPLEX WITH GEMIN7, INTERACTION WITH SNRPB; SNRPD2; SNRPD3 AND SNRPE.

    Entry informationi

    Entry nameiGEMI6_HUMAN
    AccessioniPrimary (citable) accession number: Q8WXD5
    Secondary accession number(s): B2RDP8
    , Q53SI5, Q8WVB4, Q9H5G6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 19, 2003
    Last sequence update: March 1, 2002
    Last modified: October 1, 2014
    This is version 119 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 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

    External Data

    Dasty 3