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Q8WXD5

- GEMI6_HUMAN

UniProt

Q8WXD5 - GEMI6_HUMAN

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Protein

Gem-associated protein 6

Gene

GEMIN6

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 complex assembly Source: InterPro
  6. 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 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. nuclear body Source: UniProtKB
  4. nucleoplasm Source: UniProtKB
  5. SMN complex Source: UniProtKB
  6. SMN-Sm protein complex Source: UniProtKB
Complete GO annotation...

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

BgeeiQ8WXD5.
CleanExiHS_GEMIN6.
ExpressionAtlasiQ8WXD5. baseline and differential.
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. 18 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.
GeneTreeiENSGT00390000006712.
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

        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 BAB15660.1 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. 18 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.
GeneTreei ENSGT00390000006712.
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

Bgeei Q8WXD5.
CleanExi HS_GEMIN6.
ExpressionAtlasi Q8WXD5. baseline and differential.
Genevestigatori Q8WXD5.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 120 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