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Protein

Gem-associated protein 8

Gene

GEMIN8

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

  • spliceosomal snRNP assembly Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

mRNA processing, mRNA splicing

Names & Taxonomyi

Protein namesi
Recommended name:
Gem-associated protein 8
Short name:
Gemin-8
Alternative name(s):
Protein FAM51A1
Gene namesi
Name:GEMIN8
Synonyms:FAM51A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:26044. GEMIN8.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: UniProtKB
  • Gemini of coiled bodies Source: UniProtKB-SubCell
  • nucleus 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

PharmGKBiPA162389344.

Polymorphism and mutation databases

BioMutaiGEMIN8.
DMDMi52782795.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 242242Gem-associated protein 8PRO_0000087155Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei117 – 1171PhosphoserineCombined sources
Modified residuei124 – 1241PhosphothreonineCombined sources
Modified residuei126 – 1261PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NWZ8.
MaxQBiQ9NWZ8.
PaxDbiQ9NWZ8.
PRIDEiQ9NWZ8.

PTM databases

iPTMnetiQ9NWZ8.
PhosphoSiteiQ9NWZ8.

Expressioni

Gene expression databases

BgeeiQ9NWZ8.
CleanExiHS_GEMIN8.
ExpressionAtlasiQ9NWZ8. baseline and differential.
GenevisibleiQ9NWZ8. HS.

Organism-specific databases

HPAiHPA028613.

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 SMN1 and with the GEMIN6-GEMIN7 heterodimer, mediating their interaction.3 Publications

Protein-protein interaction databases

BioGridi120298. 25 interactions.
IntActiQ9NWZ8. 6 interactions.
STRINGi9606.ENSP00000369895.

Structurei

3D structure databases

ProteinModelPortaliQ9NWZ8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili135 – 16834Sequence analysisAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IWPF. Eukaryota.
ENOG4111HJ5. LUCA.
GeneTreeiENSGT00390000013608.
HOGENOMiHOG000049212.
HOVERGENiHBG051527.
InParanoidiQ9NWZ8.
KOiK13136.
OMAiNEAAYPQ.
OrthoDBiEOG7BW0M1.
PhylomeDBiQ9NWZ8.
TreeFamiTF328591.

Sequencei

Sequence statusi: Complete.

Q9NWZ8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAVKASTSK ATRPWYSHPV YARYWQHYHQ AMAWMQSHHN AYRKAVESCF
60 70 80 90 100
NLPWYLPSAL LPQSSYDNEA AYPQSFYDHH VAWQDYPCSS SHFRRSGQHP
110 120 130 140 150
RYSSRIQAST KEDQALSKEE EMETESDAEV ECDLSNMEIT EELRQYFAET
160 170 180 190 200
ERHREERRRQ QQLDAERLDS YVNADHDLYC NTRRSVEAPT ERPGERRQAE
210 220 230 240
MKRLYGDSAA KIQAMEAAVQ LSFDKHCDRK QPKYWPVIPL KF
Length:242
Mass (Da):28,637
Last modified:October 1, 2000 - v1
Checksum:i1D82C932F1A930A2
GO

Sequence cautioni

The sequence BAC86038.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti195 – 1951E → V.
Corresponds to variant rs3747421 [ dbSNP | Ensembl ].
VAR_051011

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ224033 mRNA. Translation: ABB46495.1.
AK000521 mRNA. Translation: BAA91227.1.
AK125062 mRNA. Translation: BAC86038.1. Different initiation.
CR457241 mRNA. Translation: CAG33522.1.
AC003035 Genomic DNA. No translation available.
CH471074 Genomic DNA. Translation: EAW98851.1.
BC003607 mRNA. Translation: AAH03607.1.
BC014324 mRNA. Translation: AAH14324.1.
BC020785 mRNA. Translation: AAH20785.1.
CCDSiCCDS14159.1.
RefSeqiNP_001035944.1. NM_001042479.1.
NP_001035945.1. NM_001042480.1.
NP_060326.1. NM_017856.2.
UniGeneiHs.592237.

Genome annotation databases

EnsembliENST00000380523; ENSP00000369895; ENSG00000046647.
ENST00000398355; ENSP00000381398; ENSG00000046647.
GeneIDi54960.
KEGGihsa:54960.
UCSCiuc004cwb.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ224033 mRNA. Translation: ABB46495.1.
AK000521 mRNA. Translation: BAA91227.1.
AK125062 mRNA. Translation: BAC86038.1. Different initiation.
CR457241 mRNA. Translation: CAG33522.1.
AC003035 Genomic DNA. No translation available.
CH471074 Genomic DNA. Translation: EAW98851.1.
BC003607 mRNA. Translation: AAH03607.1.
BC014324 mRNA. Translation: AAH14324.1.
BC020785 mRNA. Translation: AAH20785.1.
CCDSiCCDS14159.1.
RefSeqiNP_001035944.1. NM_001042479.1.
NP_001035945.1. NM_001042480.1.
NP_060326.1. NM_017856.2.
UniGeneiHs.592237.

3D structure databases

ProteinModelPortaliQ9NWZ8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120298. 25 interactions.
IntActiQ9NWZ8. 6 interactions.
STRINGi9606.ENSP00000369895.

PTM databases

iPTMnetiQ9NWZ8.
PhosphoSiteiQ9NWZ8.

Polymorphism and mutation databases

BioMutaiGEMIN8.
DMDMi52782795.

Proteomic databases

EPDiQ9NWZ8.
MaxQBiQ9NWZ8.
PaxDbiQ9NWZ8.
PRIDEiQ9NWZ8.

Protocols and materials databases

DNASUi54960.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380523; ENSP00000369895; ENSG00000046647.
ENST00000398355; ENSP00000381398; ENSG00000046647.
GeneIDi54960.
KEGGihsa:54960.
UCSCiuc004cwb.4. human.

Organism-specific databases

CTDi54960.
GeneCardsiGEMIN8.
HGNCiHGNC:26044. GEMIN8.
HPAiHPA028613.
MIMi300962. gene.
neXtProtiNX_Q9NWZ8.
PharmGKBiPA162389344.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IWPF. Eukaryota.
ENOG4111HJ5. LUCA.
GeneTreeiENSGT00390000013608.
HOGENOMiHOG000049212.
HOVERGENiHBG051527.
InParanoidiQ9NWZ8.
KOiK13136.
OMAiNEAAYPQ.
OrthoDBiEOG7BW0M1.
PhylomeDBiQ9NWZ8.
TreeFamiTF328591.

Miscellaneous databases

GeneWikiiGEMIN8.
GenomeRNAii54960.
NextBioi58160.
PROiQ9NWZ8.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NWZ8.
CleanExiHS_GEMIN8.
ExpressionAtlasiQ9NWZ8. baseline and differential.
GenevisibleiQ9NWZ8. HS.

Family and domain databases

ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly."
    Carissimi C., Saieva L., Baccon J., Chiarella P., Maiolica A., Sawyer A., Rappsilber J., Pellizzoni L.
    J. Biol. Chem. 281:8126-8134(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], IDENTIFICATION IN SMN COMPLEX, SUBCELLULAR LOCATION, IDENTIFICATION BY MASS SPECTROMETRY.
  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: Gastric carcinoma and Thalamus.
  3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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].
    Tissue: Colon and Lung.
  7. "Gemin8 is required for the architecture and function of the survival motor neuron complex."
    Carissimi C., Saieva L., Gabanella F., Pellizzoni L.
    J. Biol. Chem. 281:37009-37016(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH SMN1; GEMIN6 AND GEMIN7.
  8. "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.
  9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-124 AND SER-126, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. "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-117, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiGEMI8_HUMAN
AccessioniPrimary (citable) accession number: Q9NWZ8
Secondary accession number(s): C4AMC4, Q2LJ66, Q6ZV27
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 27, 2004
Last sequence update: October 1, 2000
Last modified: April 13, 2016
This is version 106 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: 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

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 one 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.