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Basic Information Integrated Annotations
Tag Content
UUCD2 ID IUUC-Hsa-046122
UUCD1 version UUC-HoS-00826
Ensembl Protein ID ENSP00000285873.6
UniProt Accession Q8TEQ6; Q14CV0; Q8WWV4; Q969W4; Q9H9K3; Q9UFI5; GEMI5_HUMAN
Genbank Protein ID AAL38980.1; BAB84892.2; AAH08776.2; AAH14147.2; AAI13615.1; BAB14222.1; CAB56035.2
Protein Name Gem-associated protein 5
Genbank Nucleotide ID AY063750; AK074066; AC008421; BC014147; BC113614; AK022748; AL117665
Gene Name GEMIN5
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000082516.8 ENST00000285873.7 ENSP00000285873.6
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
TargetScanRepTarmiRNAMapSomamiR
miRcodeRAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Protein 3D Structure
PDB
Disease-associated Variation
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
HPRDPhospho.ELMUniProtPHOSIDA
BioGRIDmUbiSiDa
DNA Methylation
MethyCancerTCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Unreviewed
Classification
Family E-Value Score Start End
E3 adaptor/Cullin RING/DCX/DWD 5.70e-40 135.2 637 668
UBD/Beta-Prp 1.60e-61 209.8 57 265
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 adaptor/Cullin RING/DCX/DWD
   S: 1    gHtdsvtclaf...sdtllvsGsdDgtikvWD 29
           gHt+++t++a+   +d++lvs+s+Dgt +vWD
   Q: 637  GHTAKITSVAWsphHDGRLVSASYDGTAQVWD 668
           8***********8766**************** PP
   

   UBD/Beta-Prp
   S: 45   lrslsgheaevtavkfspdgk...ilvtgseDrtikvwdlstgkcvhtlkghedsvlslsfsp.sgdklvsGshdrtirvwdletgqcleet 132
           + +l gh++ v+  +fs++     + +t+s+D+t+k+wd++t + v     h++++ +l++sp  +d +vsG++  ++ ++  + +      
   Q: 57   IGELVGHTERVSGFTFSHHPGqynLCATSSDDGTVKIWDVETKTVVTEHALHQHTISTLHWSPrVKDLIVSGDEKGVVFCYWFNRNDSQ--H 146
           7899**************965677***************************************666**************855555555..4 PP
   S: 133  lsghdgvvncvvvhpdg.nllvsGslDrtvrlWdl.ktgkllrtltgghtdsvysls...........fdsng................... 192
           l ++ +++ c++ +p   +l++ G +D++v + d+ k g+++++l+g h+d ++s++           +                       
   Q: 147  LFIEPRTIFCLTCSPHHeDLVAIGYKDGIVVIIDIsKKGEVIHRLRG-HDDEIHSIAwcplpgedclsI---Nqeetseeaeitngnavaqa 234
           899999999999999999*****************999********9.*********777666666441...04667788888999999999 PP
   S: 193  .....kelvsgsldgtvklwdlqtgecvrtl 218
                 +l++gs+d+t+++w++++g+ v++l
   Q: 235  pvtkgCYLATGSKDQTIRIWSCSRGRGVMIL 265
           99999******************99877765 PP
   
Organism Homo sapiens
Functional Description
(View)

Functional Description


     Required for the assembly of the SMN complex that plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:16857593, PubMed:18984161, PubMed:20513430). 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 (PubMed:18984161). 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 (PubMed:18984161). GEMIN5 acts as the snRNA-binding protein of the SMN complex (PubMed:11714716, PubMed:16857593, PubMed:19377484, PubMed:19750007, PubMed:20513430, PubMed:27834343, PubMed:27881600, PubMed:27881601). Binds to the 7-methylguanosine cap of RNA molecules (PubMed:19750007, PubMed:27834343, PubMed:27881600, PubMed:27881601, Ref.24). Binds to the 3'-UTR of SMN1 mRNA and regulates its translation; does not affect mRNA stability (PubMed:25911097). May play a role in the regulation of protein synthesis via its interaction with ribosomes (PubMed:27507887).
 Required for the assembly of the SMN complex that plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:16857593, PubMed:18984161, PubMed:20513430). 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 (PubMed:18984161). 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 (PubMed:18984161). GEMIN5 acts as the snRNA-binding protein of the SMN complex (PubMed:11714716, PubMed:16857593, PubMed:19377484, PubMed:19750007, PubMed:20513430, PubMed:27834343, PubMed:27881600, PubMed:27881601). Binds to the 7-methylguanosine cap of RNA molecules (PubMed:19750007, PubMed:27834343, PubMed:27881600, PubMed:27881601, Ref.24). Binds to the 3'-UTR of SMN1 mRNA and regulates its translation; does not affect mRNA stability (PubMed:25911097). May play a role in the regulation of protein synthesis via its interaction with ribosomes (PubMed:27507887).
Protein Sequence
(Fasta)
MGQEPRTLPP SPNWYCARCS DAVPGGLFGF AARTSVFLVR VGPGAGESPG TPPFRVIGEL 60
VGHTERVSGF TFSHHPGQYN LCATSSDDGT VKIWDVETKT VVTEHALHQH TISTLHWSPR 120
It may take some time, please wait.

Protein Fasta Sequence


>IUUC-Hsa-046122|E3,WD_repeat;UBD,Beta-Prp|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
CCCGCTCCCT ACCTAAGGCG TGAGGCTACG AGCGGTCGGC TGTGGCAGCT TCTCTTGTCT 60
CTGACGGCTT GTAGTTATGG GGCAGGAGCC GCGGACGCTG CCGCCCTCCC CCAACTGGTA 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-046122|E3,WD_repeat;UBD,Beta-Prp|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0175--Coiled coil
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0903--Direct protein sequencing
KW-0507--mRNA processing
KW-0508--mRNA splicing
KW-0539--Nucleus
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-0648--Protein biosynthesis
KW-1185--Reference proteome
KW-0677--Repeat
KW-0694--RNA-binding
KW-0810--Translation regulation
KW-0853--WD repeat
Interpro

IPR024977--Apc4_WD40_dom
IPR020472--G-protein_beta_WD-40_rep
IPR011047--Quinoprotein_ADH-like_supfam
IPR011990--TPR-like_helical_dom
IPR015943--WD40/YVTN_repeat-like_dom
IPR001680--WD40_repeat
IPR019775--WD40_repeat_CS
IPR017986--WD40_repeat_dom
PROSITE

PS00678--WD_REPEATS_1
PS50082--WD_REPEATS_2
PS50294--WD_REPEATS_REGION
Pfam

PF12894--ANAPC4_WD40
PF00400--WD40
PRINTS

PR00320--GPROTEINBRPT
SMART

SM00320--WD40
Gene Ontology

GO:0005737--C:cytoplasm
GO:0005829--C:cytosol
GO:0097504--C:Gemini of coiled bodies
GO:0016020--C:membrane
GO:0016604--C:nuclear body
GO:0005654--C:nucleoplasm
GO:0032797--C:SMN complex
GO:0034718--C:SMN-Gemin2 complex
GO:0034719--C:SMN-Sm protein complex
GO:0003730--F:mRNA 3'-UTR binding
GO:0043022--F:ribosome binding
GO:0000340--F:RNA 7-methylguanosine cap binding
GO:0003723--F:RNA binding
GO:0017069--F:snRNA binding
GO:0030619--F:U1 snRNA binding
GO:0030621--F:U4 snRNA binding
GO:0030622--F:U4atac snRNA binding
GO:0000398--P:mRNA splicing, via spliceosome
GO:0051170--P:nuclear import
GO:0006461--P:protein complex assembly
GO:0006417--P:regulation of translation
GO:0000387--P:spliceosomal snRNP assembly
GO:0006412--P:translation
KEGG hsa:25929
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-001199 Ailuropoda melanoleuca 88.89 0.00e+00 2606.00
IUUC-Apl-003586 Anas platyrhynchos 61.74 0.00e+00 1592.00
IUUC-Aca-004956 Anolis carolinensis 62.49 0.00e+00 1833.00
IUUC-Ame-010753 Astyanax mexicanus 50.20 0.00e+00 1461.00
IUUC-Bta-012315 Bos taurus 87.44 0.00e+00 2592.00
IUUC-Cja-019334 Callithrix jacchus 95.49 0.00e+00 2881.00
IUUC-Cfa-021254 Canis familiaris 88.47 0.00e+00 2664.00
IUUC-Cpo-021984 Cavia porcellus 81.79 0.00e+00 2331.00
IUUC-Csa-023650 Chlorocebus sabaeus 97.22 0.00e+00 2881.00
IUUC-Cho-024860 Choloepus hoffmanni 82.78 0.00e+00 2376.00
IUUC-Cin-025778 Ciona intestinalis 37.91 0.00e+00 666.00
IUUC-Csv-026313 Ciona savignyi 40.85 3.00e-164 572.00
IUUC-Dre-028096 Danio rerio 62.90 0.00e+00 1006.00
IUUC-Dno-029799 Dasypus novemcinctus 89.40 0.00e+00 2250.00
IUUC-Dor-030885 Dipodomys ordii 73.96 0.00e+00 1103.00
IUUC-Ete-032918 Echinops telfairi 81.06 0.00e+00 2394.00
IUUC-Eca-034144 Equus caballus 88.30 0.00e+00 2548.00
IUUC-Eeu-034843 Erinaceus europaeus 78.97 0.00e+00 1777.00
IUUC-Fca-035948 Felis catus 88.70 0.00e+00 2612.00
IUUC-Fal-037303 Ficedula albicollis 61.75 0.00e+00 1774.00
IUUC-Gmo-039591 Gadus morhua 53.02 0.00e+00 840.00
IUUC-Gga-040570 Gallus gallus 62.55 0.00e+00 1618.00
IUUC-Gac-042646 Gasterosteus aculeatus 48.25 0.00e+00 1358.00
IUUC-Ggo-045605 Gorilla gorilla 89.16 0.00e+00 2030.00
IUUC-Itr-048094 Ictidomys tridecemlineatus 91.79 0.00e+00 2334.00
IUUC-Lch-050489 Latimeria chalumnae 58.01 0.00e+00 650.00
IUUC-Loc-052259 Lepisosteus oculatus 50.63 0.00e+00 1405.00
IUUC-Laf-053338 Loxodonta africana 88.12 0.00e+00 2590.00
IUUC-Mcc-055442 Macaca mulatta 97.42 0.00e+00 2883.00
IUUC-Meu-056245 Macropus eugenii 81.31 0.00e+00 853.00
IUUC-Mga-060202 Meleagris gallopavo 62.69 0.00e+00 1681.00
IUUC-Mmr-061730 Microcebus murinus 90.06 0.00e+00 2631.00
IUUC-Mdo-062880 Monodelphis domestica 73.93 0.00e+00 2167.00
IUUC-Mmu-063930 Mus musculus 82.01 0.00e+00 2297.00
IUUC-Mpu-066605 Mustela putorius furo 88.55 0.00e+00 2631.00
IUUC-Mlu-067765 Myotis lucifugus 88.71 0.00e+00 2647.00
IUUC-Nle-069183 Nomascus leucogenys 98.01 0.00e+00 2862.00
IUUC-Opr-070659 Ochotona princeps 78.18 0.00e+00 1160.00
IUUC-Ont-072356 Oreochromis niloticus 61.93 0.00e+00 1010.00
IUUC-Oan-073056 Ornithorhynchus anatinus 71.19 0.00e+00 1963.00
IUUC-Ocu-073881 Oryctolagus cuniculus 88.84 0.00e+00 2661.00
IUUC-Ola-087120 Oryzias latipes 57.49 3.00e-67 248.00
IUUC-Olu-087648 Ostreococcus lucimarinus 22.80 2.00e-31 132.00
IUUC-Oga-088343 Otolemur garnettii 90.66 0.00e+00 2687.00
IUUC-Oar-089257 Ovis aries 87.88 0.00e+00 2619.00
IUUC-Ptr-090497 Pan troglodytes 99.40 0.00e+00 2903.00
IUUC-Pan-092638 Papio anubis 96.96 0.00e+00 2866.00
IUUC-Psi-093096 Pelodiscus sinensis 64.67 0.00e+00 1603.00
IUUC-Pma-094571 Petromyzon marinus 43.76 6.00e-87 314.00
IUUC-Pfo-096742 Poecilia formosa 49.22 0.00e+00 1358.00
IUUC-Pab-098153 Pongo abelii 98.47 0.00e+00 2914.00
IUUC-Pca-100957 Procavia capensis 81.06 0.00e+00 2405.00
IUUC-Pva-102439 Pteropus vampyrus 90.06 0.00e+00 2704.00
IUUC-Rno-105891 Rattus norvegicus 82.27 0.00e+00 2296.00
IUUC-Sha-107181 Sarcophilus harrisii 73.82 0.00e+00 2076.00
IUUC-Ssc-115413 Sus scrofa 88.04 0.00e+00 2643.00
IUUC-Tgu-117082 Taeniopygia guttata 62.33 0.00e+00 1761.00
IUUC-Tru-118491 Takifugu rubripes 59.10 0.00e+00 948.00
IUUC-Tsy-119629 Tarsius syrichta 93.77 1.00e-164 574.00
IUUC-Tni-120240 Tetraodon nigroviridis 59.73 0.00e+00 952.00
IUUC-Tbe-127673 Tupaia belangeri 78.38 0.00e+00 2173.00
IUUC-Ttr-128562 Tursiops truncatus 85.75 0.00e+00 2547.00
IUUC-Vpa-130596 Vicugna pacos 84.57 0.00e+00 1863.00
IUUC-Xtr-132469 Xenopus tropicalis 56.60 0.00e+00 1623.00
Created Date 25-Jun-2017

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