Q8TEQ6 (GEMI5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Gem-associated protein 5
Short name=Gemin5

Gene names

Name:

GEMIN5

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	1508 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. GEMIN5 acts as the snRNA-binding protein of the SMN complex. Ref.1 Ref.8
Subunit structure	Part of the core SMN complex that contains SMN1, SIP1/GEMIN2, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts directly with SMN1, SNRPB, SNRPD1, SNRPD2, SNRPD3 and SNRPE. Ref.1
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 similarities	Belongs to the WD repeat gemin-5 family. Contains 13 WD repeats.
Sequence caution	The sequence BAB84892.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	mRNA processing mRNA splicing
Cellular component	Cytoplasm Nucleus Spliceosome
Coding sequence diversity	Polymorphism
Domain	Coiled coil Repeat WD repeat
Ligand	RNA-binding
PTM	Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	ncRNA metabolic process Traceable author statement. Source: Reactome protein complex assembly Traceable author statement Ref.1. Source: UniProtKB 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
Molecular_function	snRNA binding Inferred from direct assay Ref.8. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
EIF4E	P06730	3	EBI-443630,EBI-73440
SMN2	Q16637	7	EBI-443630,EBI-395421
SNRPE	P62304	2	EBI-443630,EBI-348082

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1508	1508	Gem-associated protein 5		PRO_0000051004
Regions
	Repeat	62 – 104	43	WD 1
	Repeat	107 – 148	42	WD 2
	Repeat	150 – 189	40	WD 3
	Repeat	193 – 264	72	WD 4
	Repeat	280 – 321	42	WD 5
	Repeat	333 – 374	42	WD 6
	Repeat	377 – 417	41	WD 7
	Repeat	424 – 464	41	WD 8
	Repeat	468 – 509	42	WD 9
	Repeat	533 – 573	41	WD 10
	Repeat	576 – 622	47	WD 11
	Repeat	637 – 677	41	WD 12
	Repeat	680 – 720	41	WD 13
	Coiled coil	1362 – 1393	32	Potential
	Compositional bias	738 – 746	9	Poly-Lys
Amino acid modifications
	Modified residue	48	1	Phosphoserine Ref.9
	Modified residue	751	1	Phosphothreonine Ref.9
	Modified residue	757	1	Phosphoserine Ref.13
	Modified residue	770	1	Phosphoserine Ref.9
	Modified residue	778	1	Phosphoserine Ref.7 Ref.9 Ref.13
	Modified residue	847	1	Phosphoserine Ref.9
	Modified residue	1417	1	Phosphoserine By similarity
Natural variations
	Natural variant	682	1	R → Q. Ref.1 Ref.2 Ref.4 Ref.5 Ref.6 Corresponds to variant rs1974777 [ dbSNP | Ensembl ].		VAR_033807
	Natural variant	1155	1	P → S. Corresponds to variant rs6865950 [ dbSNP | Ensembl ].		VAR_057604
Experimental info
	Sequence conflict	299	1	L → P in BAB14222. Ref.5
	Sequence conflict	456	1	T → A in BAB14222. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Q8TEQ6 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: EA5293F395BBF14E	FASTA	1,508	168,589
	10 20 30 40 50 60 MGQEPRTLPP SPNWYCARCS DAVPGGLFGF AARTSVFLVR VGPGAGESPG TPPFRVIGEL 70 80 90 100 110 120 VGHTERVSGF TFSHHPGQYN LCATSSDDGT VKIWDVETKT VVTEHALHQH TISTLHWSPR 130 140 150 160 170 180 VKDLIVSGDE KGVVFCYWFN RNDSQHLFIE PRTIFCLTCS PHHEDLVAIG YKDGIVVIID 190 200 210 220 230 240 ISKKGEVIHR LRGHDDEIHS IAWCPLPGED CLSINQEETS EEAEITNGNA VAQAPVTKGC 250 260 270 280 290 300 YLATGSKDQT IRIWSCSRGR GVMILKLPFL KRRGGGIDPT VKERLWLTLH WPSNQPTQLV 310 320 330 340 350 360 SSCFGGELLQ WDLTQSWRRK YTLFSASSEG QNHSRIVFNL CPLQTEDDKQ LLLSTSMDRD 370 380 390 400 410 420 VKCWDIATLE CSWTLPSLGG FAYSLAFSSV DIGSLAIGVG DGMIRVWNTL SIKNNYDVKN 430 440 450 460 470 480 FWQGVKSKVT ALCWHPTKEG CLAFGTDDGK VGLYDTYSNK PPQISSTYHK KTVYTLAWGP 490 500 510 520 530 540 PVPPMSLGGE GDRPSLALYS CGGEGIVLQH NPWKLSGEAF DINKLIRDTN SIKYKLPVHT 550 560 570 580 590 600 EISWKADGKI MALGNEDGSI EIFQIPNLKL ICTIQQHHKL VNTISWHHEH GSQPELSYLM 610 620 630 640 650 660 ASGSNNAVIY VHNLKTVIES SPESPVTITE PYRTLSGHTA KITSVAWSPH HDGRLVSASY 670 680 690 700 710 720 DGTAQVWDAL REEPLCNFRG HRGRLLCVAW SPLDPDCIYS GADDFCVHKW LTSMQDHSRP 730 740 750 760 770 780 PQGKKSIELE KKRLSQPKAK PKKKKKPTLR TPVKLESIDG NEEESMKENS GPVENGVSDQ 790 800 810 820 830 840 EGEEQAREPE LPCGLAPAVS REPVICTPVS SGFEKSKVTI NNKVILLKKE PPKEKPETLI 850 860 870 880 890 900 KKRKARSLLP LSTSLDHRSK EELHQDCLVL ATAKHSRELN EDVSADVEER FHLGLFTDRA 910 920 930 940 950 960 TLYRMIDIEG KGHLENGHPE LFHQLMLWKG DLKGVLQTAA ERGELTDNLV AMAPAAGYHV 970 980 990 1000 1010 1020 WLWAVEAFAK QLCFQDQYVK AASHLLSIHK VYEAVELLKS NHFYREAIAI AKARLRPEDP 1030 1040 1050 1060 1070 1080 VLKDLYLSWG TVLERDGHYA VAAKCYLGAT CAYDAAKVLA KKGDAASLRT AAELAAIVGE 1090 1100 1110 1120 1130 1140 DELSASLALR CAQELLLANN WVGAQEALQL HESLQGQRLV FCLLELLSRH LEEKQLSEGK 1150 1160 1170 1180 1190 1200 SSSSYHTWNT GTEGPFVERV TAVWKSIFSL DTPEQYQEAF QKLQNIKYPS ATNNTPAKQL 1210 1220 1230 1240 1250 1260 LLHICHDLTL AVLSQQMASW DEAVQALLRA VVRSYDSGSF TIMQEVYSAF LPDGCDHLRD 1270 1280 1290 1300 1310 1320 KLGDHQSPAT PAFKSLEAFF LYGRLYEFWW SLSRPCPNSS VWVRAGHRTL SVEPSQQLDT 1330 1340 1350 1360 1370 1380 ASTEETDPET SQPEPNRPSE LDLRLTEEGE RMLSTFKELF SEKHASLQNS QRTVAEVQET 1390 1400 1410 1420 1430 1440 LAEMIRQHQK SQLCKSTANG PDKNEPEVEA EQPLCSSQSQ CKEEKNEPLS LPELTKRLTE 1450 1460 1470 1480 1490 1500 ANQRMAKFPE SIKAWPFPDV LECCLVLLLI RSHFPGCLAQ EMQQQAQELL QKYGNTKTYR RHCQTFCM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins." Gubitz A.K., Mourelatos Z., Abel L., Rappsilber J., Mann M., Dreyfuss G. J. Biol. Chem. 277:5631-5636(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE, FUNCTION, INTERACTION WITH SMN1; SNRPB; SNRPD1; SNRPD2; SNRPD3 AND SNRPE, SUBCELLULAR LOCATION, VARIANT GLN-682. Tissue: Cervix carcinoma.
[2]	"The nucleotide sequence of a long cDNA clone isolated from human spleen." Jikuya H., Takano J., Nomura N., Kikuno R., Nagase T., Ohara O. Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-682. Tissue: Spleen.
[3]	"The DNA sequence and comparative analysis of human chromosome 5." Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M. Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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 GLN-682. Tissue: Cerebellum and Lymph.
[5]	"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] OF 1-737, VARIANT GLN-682. Tissue: Teratocarcinoma.
[6]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 289-1508, VARIANT GLN-682. Tissue: Uterus.
[7]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-778, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"The Gemin5 protein of the SMN complex identifies snRNAs." Battle D.J., Lau C.-K., Wan L., Deng H., Lotti F., Dreyfuss G. Mol. Cell 23:273-279(2006) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
[9]	"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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-48; THR-751; SER-770; SER-778 AND SER-847, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[10]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[11]	"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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[12]	"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].
[13]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-757 AND SER-778, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY063750 mRNA. Translation: AAL38980.1. AK074066 mRNA. Translation: BAB84892.2. Different initiation. AC008421 Genomic DNA. No translation available. BC008776 mRNA. Translation: AAH08776.2. BC014147 mRNA. Translation: AAH14147.2. BC113614 mRNA. Translation: AAI13615.1. AK022748 mRNA. Translation: BAB14222.1. AL117665 mRNA. Translation: CAB56035.2.
IPI	IPI00291783.
PIR	T17345.
RefSeq	NP_001239085.1. NM_001252156.1. NP_056280.2. NM_015465.4.
UniGene	Hs.483921.
3D structure databases
ProteinModelPortal	Q8TEQ6.
SMR	Q8TEQ6. Positions 146-260, 348-489, 538-715.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8TEQ6. 12 interactions.
STRING	9606.ENSP00000285873.
PTM databases
PhosphoSite	Q8TEQ6.
Polymorphism databases
DMDM	296439335.
Proteomic databases
PaxDb	Q8TEQ6.
PRIDE	Q8TEQ6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000285873; ENSP00000285873; ENSG00000082516.
GeneID	25929.
KEGG	hsa:25929.
UCSC	uc003lvx.3. human.
Organism-specific databases
CTD	25929.
GeneCards	GC05M154247.
H-InvDB	HIX0005347.
HGNC	HGNC:20043. GEMIN5.
HPA	HPA037393.
MIM	607005. gene.
neXtProt	NX_Q8TEQ6.
PharmGKB	PA134945791.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2319.
HOGENOM	HOG000231391.
HOVERGEN	HBG051721.
InParanoid	Q8TEQ6.
KO	K13133.
OMA	GQNHSRI.
OrthoDB	EOG43BMN0.
PhylomeDB	Q8TEQ6.
Enzyme and pathway databases
Reactome	REACT_21257. Metabolism of RNA. REACT_71. Gene Expression.
Gene expression databases
ArrayExpress	Q8TEQ6.
Bgee	Q8TEQ6.
CleanEx	HS_GEMIN5.
Genevestigator	Q8TEQ6.
GermOnline	ENSG00000082516. Homo sapiens.
Family and domain databases
Gene3D	2.130.10.10. 3 hits.
InterPro	IPR020472. G-protein_beta_WD-40_rep. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_dom. [Graphical view]
Pfam	PF00400. WD40. 4 hits. [Graphical view]
PRINTS	PR00320. GPROTEINBRPT.
SMART	SM00320. WD40. 12 hits. [Graphical view]
SUPFAM	SSF50978. WD40_like. 2 hits.
PROSITE	PS00678. WD_REPEATS_1. 3 hits. PS50082. WD_REPEATS_2. 3 hits. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	25929.
NextBio	47472.
SOURCE	Search...

Entry information

Entry name

GEMI5_HUMAN

Accession

Primary (citable) accession number: Q8TEQ6
Secondary accession number(s): Q14CV0 , Q8WWV4, Q969W4, Q9H9K3, Q9UFI5

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 19, 2003
Last sequence update:	May 18, 2010
Last modified:	April 3, 2013
This is version 110 of the entry and version 3 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.