Q8WXD5 (GEMI6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Gem-associated protein 6
Short name=Gemin-6

Alternative name(s):
SIP2

Gene names

Name:

GEMIN6

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	167 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus. Ref.1
Subunit structure	Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts directly with GEMIN7, SNRPB, SNRPD2, SNRPD3 and SNRPE. Ref.1 Ref.6 Ref.10
Subcellular location	Nucleus › nucleoplasm. Nucleus › gem. Cytoplasm. 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. Ref.1
Sequence caution	The sequence BAB15660.1 differs from that shown. Reason: Frameshift at position 142.

Ontologies

Keywords
Biological process	mRNA processing mRNA splicing
Cellular component	Cytoplasm Nucleus Spliceosome
Coding sequence diversity	Polymorphism
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	ncRNA metabolic process Traceable author statement. Source: Reactome spliceosomal complex assembly Inferred from electronic annotation. Source: InterPro spliceosomal snRNP assembly Traceable author statement Ref.1. Source: UniProtKB
Cellular_component	Cajal body Inferred from electronic annotation. Source: UniProtKB-SubCell cytosol Traceable author statement. Source: Reactome nuclear body Inferred from direct assay Ref.1. Source: UniProtKB spliceosomal complex Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
vpr	P12520	3	EBI-752301,EBI-6164519	From a different organism.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 167

167

Gem-associated protein 6

PRO_0000087460

Amino acid modifications

Modified residue

166

1

Phosphoserine Ref.8

Natural variations

Natural variant

140

1

G → D. Ref.5
Corresponds to variant rs1056104 [ dbSNP | Ensembl ].

VAR_020391

Secondary structure

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167

Helix Strand Turn

Details...

Helix

3 – 6

4

Helix

9 – 14

6

Turn

15 – 17

3

Beta strand

19 – 24

6

Turn

25 – 27

3

Beta strand

28 – 37

10

Turn

39 – 41

3

Beta strand

44 – 49

6

Beta strand

55 – 60

6

Helix

62 – 64

3

Beta strand

65 – 72

8

Helix

76 – 83

8

Sequences

	Sequence		Length	Mass (Da)
	Q8WXD5 [UniParc]. Last modified March 1, 2002. Version 1. Checksum: 908EEFDA73A0C07F	FASTA	167	18,824
	10 20 30 40 50 60 MSEWMKKGPL EWQDYIYKEV RVTASEKNEY KGWVLTTDPV SANIVLVNFL EDGSMSVTGI 70 80 90 100 110 120 MGHAVQTVET MNEGDHRVRE KLMHLFTSGD CKAYSPEDLE ERKNSLKKWL EKNHIPITEQ 130 140 150 160 GDAPRTLCVA GVLTIDPPYG PENCSSSNEI ILSRVQDLIE GHLTASQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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]	"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.
[8]	"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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: 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 1-86 IN COMPLEX WITH GEMIN7, INTERACTION WITH SNRPB; SNRPD2; SNRPD3 AND SNRPE.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00103087.

RefSeq

NP_079051.9. NM_024775.9.

UniGene

Hs.143818.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1Y96	X-ray	2.00	A/C	1-86	[»]

ProteinModelPortal

Q8WXD5.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-41331N.

IntAct

Q8WXD5. 4 interactions.

MINT

MINT-225684.

STRING

9606.ENSP00000281950.

PTM databases

PhosphoSite

Q8WXD5.

Polymorphism databases

DMDM

34921901.

Proteomic databases

PaxDb

Q8WXD5.

PRIDE

Q8WXD5.

Protocols and materials databases

DNASU

79833.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000281950; ENSP00000281950; ENSG00000152147.

GeneID

79833.

KEGG

hsa:79833.

UCSC

uc002rrc.3. human.

Organism-specific databases

CTD

79833.

GeneCards

GC02P038916.

HGNC

HGNC:20044. GEMIN6.

HPA

HPA035726.

MIM

607006. gene.

neXtProt

NX_Q8WXD5.

PharmGKB

PA134952855.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG44456.

HOGENOM

HOG000008109.

HOVERGEN

HBG051722.

InParanoid

Q8WXD5.

KO

K13134.

OMA

MSGDCKA.

OrthoDB

EOG4T4CWX.

PhylomeDB

Q8WXD5.

Enzyme and pathway databases

Reactome

REACT_21257. Metabolism of RNA.
REACT_71. Gene Expression.

Gene expression databases

ArrayExpress

Q8WXD5.

Bgee

Q8WXD5.

CleanEx

HS_GEMIN6.

Genevestigator

Q8WXD5.

GermOnline

ENSG00000152147. Homo sapiens.

Family and domain databases

InterPro

IPR009422. Gemin6.
[Graphical view]

Pfam

PF06372. Gemin6. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q8WXD5.

GenomeRNAi

79833.

NextBio

69481.

SOURCE

Search...

Entry information

Entry name

GEMI6_HUMAN

Accession

Primary (citable) accession number: Q8WXD5
Secondary accession number(s): B2RDP8 , Q53SI5, Q8WVB4, Q9H5G6

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 19, 2003
Last sequence update:	March 1, 2002
Last modified:	May 1, 2013
This is version 106 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.