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Q8TEQ6 (GEMI5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 121. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gem-associated protein 5

Short name=Gemin5
Gene names
Name:GEMIN5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1508 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. GEMIN5 acts as the snRNA-binding protein of the SMN complex. Ref.1 Ref.8 Ref.9

Subunit structure

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 SMN1, SNRPB, SNRPD1, SNRPD2, SNRPD3 and SNRPE. Ref.1 Ref.9

Subcellular location

Nucleusnucleoplasm. Nucleusgem. 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

Binary interactions

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 15081508Gem-associated protein 5
PRO_0000051004

Regions

Repeat62 – 10443WD 1
Repeat107 – 14842WD 2
Repeat150 – 18940WD 3
Repeat193 – 26472WD 4
Repeat280 – 32142WD 5
Repeat333 – 37442WD 6
Repeat377 – 41741WD 7
Repeat424 – 46441WD 8
Repeat468 – 50942WD 9
Repeat533 – 57341WD 10
Repeat576 – 62247WD 11
Repeat637 – 67741WD 12
Repeat680 – 72041WD 13
Coiled coil1362 – 139332 Potential
Compositional bias738 – 7469Poly-Lys

Amino acid modifications

Modified residue481Phosphoserine Ref.10
Modified residue7511Phosphothreonine Ref.10
Modified residue7571Phosphoserine Ref.14
Modified residue7701Phosphoserine Ref.10
Modified residue7781Phosphoserine Ref.7 Ref.10 Ref.14
Modified residue8471Phosphoserine Ref.10

Natural variations

Natural variant6821R → Q. Ref.1 Ref.2 Ref.4 Ref.5 Ref.6
Corresponds to variant rs1974777 [ dbSNP | Ensembl ].
VAR_033807
Natural variant11551P → S.
Corresponds to variant rs6865950 [ dbSNP | Ensembl ].
VAR_057604

Experimental info

Sequence conflict2991L → P in BAB14222. Ref.5
Sequence conflict4561T → A in BAB14222. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Q8TEQ6 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: EA5293F395BBF14E

FASTA1,508168,589
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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]"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.
[10]"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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"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.
[12]"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.
[13]"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].
[14]"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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+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.
PIRT17345.
RefSeqNP_001239085.1. NM_001252156.1.
NP_056280.2. NM_015465.4.
UniGeneHs.483921.

3D structure databases

ProteinModelPortalQ8TEQ6.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117429. 35 interactions.
IntActQ8TEQ6. 13 interactions.
MINTMINT-222419.
STRING9606.ENSP00000285873.

PTM databases

PhosphoSiteQ8TEQ6.

Polymorphism databases

DMDM296439335.

Proteomic databases

PaxDbQ8TEQ6.
PRIDEQ8TEQ6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000285873; ENSP00000285873; ENSG00000082516.
GeneID25929.
KEGGhsa:25929.
UCSCuc003lvx.3. human.

Organism-specific databases

CTD25929.
GeneCardsGC05M154247.
H-InvDBHIX0005347.
HGNCHGNC:20043. GEMIN5.
HPAHPA037393.
MIM607005. gene.
neXtProtNX_Q8TEQ6.
PharmGKBPA134945791.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2319.
HOGENOMHOG000231391.
HOVERGENHBG051721.
InParanoidQ8TEQ6.
KOK13133.
OMAAKQLCFQ.
OrthoDBEOG7FXZXG.
PhylomeDBQ8TEQ6.
TreeFamTF328886.

Enzyme and pathway databases

ReactomeREACT_21257. Metabolism of RNA.
REACT_71. Gene Expression.
SignaLinkQ8TEQ6.

Gene expression databases

ArrayExpressQ8TEQ6.
BgeeQ8TEQ6.
CleanExHS_GEMIN5.
GenevestigatorQ8TEQ6.

Family and domain databases

Gene3D2.130.10.10. 3 hits.
InterProIPR020472. G-protein_beta_WD-40_rep.
IPR011047. Quinonprotein_ADH-like_supfam.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF00400. WD40. 4 hits.
[Graphical view]
PRINTSPR00320. GPROTEINBRPT.
SMARTSM00320. WD40. 12 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 2 hits.
SSF50998. SSF50998. 1 hit.
PROSITEPS00678. WD_REPEATS_1. 3 hits.
PS50082. WD_REPEATS_2. 3 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGEMIN5.
GenomeRNAi25929.
NextBio47472.
PROQ8TEQ6.
SOURCESearch...

Entry information

Entry nameGEMI5_HUMAN
AccessionPrimary (citable) accession number: Q8TEQ6
Secondary accession number(s): Q14CV0 expand/collapse secondary AC list , Q8WWV4, Q969W4, Q9H9K3, Q9UFI5
Entry history
Integrated into UniProtKB/Swiss-Prot: September 19, 2003
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 121 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM