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Protein

Gem-associated protein 6

Gene

GEMIN6

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

  • gene expression Source: Reactome
  • mRNA splicing, via spliceosome Source: UniProtKB
  • ncRNA metabolic process Source: Reactome
  • spliceosomal complex assembly Source: InterPro
  • 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 Componenti: 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

  • cytoplasm Source: UniProtKB
  • cytosol Source: UniProtKB
  • Gemini of coiled bodies Source: UniProtKB-SubCell
  • nuclear body Source: UniProtKB
  • nucleoplasm Source: UniProtKB
  • SMN complex Source: UniProtKB
  • SMN-Sm protein complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134952855.

Polymorphism and mutation databases

BioMutaiGEMIN6.
DMDMi34921901.

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.
GenevisibleiQ8WXD5. HS.

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
GEMIN7Q9H8406EBI-752301,EBI-715455
TOX4O948423EBI-752301,EBI-948613
vprP125203EBI-752301,EBI-6164519From a different organism.

Protein-protein interaction databases

BioGridi122925. 19 interactions.
DIPiDIP-41331N.
IntActiQ8WXD5. 6 interactions.
MINTiMINT-225684.
STRINGi9606.ENSP00000281950.

Structurei

Secondary structure

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

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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. Curated

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:
EMBLi
GenBanki
DDBJi
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.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi122925. 19 interactions.
DIPiDIP-41331N.
IntActiQ8WXD5. 6 interactions.
MINTiMINT-225684.
STRINGi9606.ENSP00000281950.

PTM databases

PhosphoSiteiQ8WXD5.

Polymorphism and mutation databases

BioMutaiGEMIN6.
DMDMi34921901.

Proteomic databases

MaxQBiQ8WXD5.
PaxDbiQ8WXD5.
PRIDEiQ8WXD5.

Protocols and materials databases

DNASUi79833.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000281950; ENSP00000281950; ENSG00000152147.
GeneIDi79833.
KEGGihsa:79833.
UCSCiuc002rrc.3. human.

Organism-specific databases

CTDi79833.
GeneCardsiGC02P038916.
HGNCiHGNC:20044. GEMIN6.
HPAiHPA035726.
MIMi607006. gene.
neXtProtiNX_Q8WXD5.
PharmGKBiPA134952855.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG44456.
GeneTreeiENSGT00390000006712.
HOGENOMiHOG000008109.
HOVERGENiHBG051722.
InParanoidiQ8WXD5.
KOiK13134.
OMAiLEWQDYT.
PhylomeDBiQ8WXD5.
TreeFamiTF314693.

Enzyme and pathway databases

ReactomeiREACT_11066. snRNP Assembly.

Miscellaneous databases

EvolutionaryTraceiQ8WXD5.
GeneWikiiGem-associated_protein_6.
GenomeRNAii79833.
NextBioi69481.
PROiQ8WXD5.
SOURCEiSearch...

Gene expression databases

BgeeiQ8WXD5.
CleanExiHS_GEMIN6.
ExpressionAtlasiQ8WXD5. baseline and differential.
GenevisibleiQ8WXD5. HS.

Family and domain databases

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

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: June 24, 2015
This is version 128 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.