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Reviewed, UniProtKB/Swiss-Prot Q01780 (EXOSX_HUMAN)

Last modified July 7, 2009. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Exosome component 10
Alternative name(s):
    Polymyositis/scleroderma autoantigen 2
    Autoantigen PM/Scl 2
    Polymyositis/scleroderma autoantigen 100 kDa
      Short name=PM/Scl-100
    P100 polymyositis-scleroderma overlap syndrome-associated autoantigen
Gene names
Name: EXOSC10
Synonyms: PMSCL, PMSCL2
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length885 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Component of the exosome 3'->5' exoribonuclease complex, a complex that degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions. Required for the 3'processing of the 7S pre-RNA to the mature 5.8S rRNA. Could be an exonuclease By similarity. Mediates the association of MTR4, C1D and MPP6 wth the exosome and this complex is required for the maturation of 5.8S rRNA. Required for nucleolar localization of C1D.

Subunit structure

Component of the exosome multienzyme ribonuclease complex composed of at least 11 proteins: EXOSC1/CSL4, EXOSC2/RRP4, EXOSC3/RRP40, EXOSC4/RRP41, EXOSC5/RRP46, EXOSC6/MTR3, EXOSC7/RRP42, EXOSC8/RRP43, EXOSC9/Scl-75, DIS3/RRP44, and EXOSC10/Scl-100 (only in the nuclear complex). Found in a mRNA decay complex with RENT1, RENT2 and RENT3B. Also associated with the GTPase Ran By similarity. Interacts with PTGES2. Interacts with C1D. Forms a heterotrimeric complex with C1D and MPP6 in vitro.

Subcellular location

Cytoplasm. Nucleusnucleolus. Ref.7 Ref.8 Ref.10

Involvement in disease

Antibodies against PM/SCL are found in patients with polymyositis and/or scleroderma.

Sequence similarities

Contains 1 3'-5' exonuclease domain.

Contains 1 HRDC domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q01780-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q01780-2)

The sequence of this isoform differs from the canonical sequence as follows:
     695-719: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 885885Exosome component 10
PRO_0000087133

Regions

Domain503 – 58381HRDC

Natural variations

Alternative sequence695 – 71925Missing in isoform 2.
VSP_004362

Secondary structure

................... 885
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2000. Version 2.
Checksum: A37BDC8F49BF2E57

FASTA885100,831
        10         20         30         40         50         60 
MAPPSTREPR VLSATSATKS DGEMVLPGFP DADSFVKFAL GSVVAVTKAS GGLPQFGDEY 

        70         80         90        100        110        120 
DFYRSFPGFQ AFCETQGDRL LQCMSRVMQY HGCRSNIKDR SKVTELEDKF DLLVDANDVI 

       130        140        150        160        170        180 
LERVGILLDE ASGVNKNQQP VLPAGLQVPK TVVSSWNRKA AEYGKKAKSE TFRLLHAKNI 

       190        200        210        220        230        240 
IRPQLKFREK IDNSNTPFLP KIFIKPNAQK PLPQALSKER RERPQDRPED LDVPPALADF 

       250        260        270        280        290        300 
IHQQRTQQVE QDMFAHPYQY ELNHFTPADA VLQKPQPQLY RPIEETPCHF ISSLDELVEL 

       310        320        330        340        350        360 
NEKLLNCQEF AVDLEHHSYR SFLGLTCLMQ ISTRTEDFII DTLELRSDMY ILNESLTDPA 

       370        380        390        400        410        420 
IVKVFHGADS DIEWLQKDFG LYVVNMFDTH QAARLLNLGR HSLDHLLKLY CNVDSNKQYQ 

       430        440        450        460        470        480 
LADWRIRPLP EEMLSYARDD THYLLYIYDK MRLEMWERGN GQPVQLQVVW QRSRDICLKK 

       490        500        510        520        530        540 
FIKPIFTDES YLELYRKQKK HLNTQQLTAF QLLFAWRDKT ARREDESYGY VLPNHMMLKI 

       550        560        570        580        590        600 
AEELPKEPQG IIACCNPVPP LVRQQINEMH LLIQQAREMP LLKSEVAAGV KKSGPLPSAE 

       610        620        630        640        650        660 
RLENVLFGPH DCSHAPPDGY PIIPTSGSVP VQKQASLFPD EKEDNLLGTT CLIATAVITL 

       670        680        690        700        710        720 
FNEPSAEDSK KGPLTVAQKK AQNIMESFEN PFRMFLPSLG HRAPVSQAAK FDPSTKIYEI 

       730        740        750        760        770        780 
SNRWKLAQVQ VQKDSKEAVK KKAAEQTAAR EQAKEACKAA AEQAISVRQQ VVLENAAKKR 

       790        800        810        820        830        840 
ERATSDPRTT EQKQEKKRLK ISKKPKDPEP PEKEFTPYDY SQSDFKAFAG NSKSKVSSQF 

       850        860        870        880 
DPNKQTPSGK KCIAAKKIKQ SVGNKSMSFP TGKSDRGFRY NWPQR 

« Hide

Isoform 2.

Checksum: B7FBE8B15F28BFE2
Show »

FASTA86098,089

References

« Hide 'large scale' references
[1]"Cloning and characterization of the cDNA coding for a polymyositis-scleroderma overlap syndrome-related nucleolar 100-kD protein."
Bluethner M., Bautz F.A.
J. Exp. Med. 176:973-980(1992) [PubMed: 1383382] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Placenta.
[2]"Cloning of a complementary DNA coding for the 100-kD antigenic protein of the PM-Scl autoantigen."
Ge Q., Frank M.B., O'Brien C., Targoff I.N.
J. Clin. Invest. 90:559-570(1992) [PubMed: 1644924] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Thymocyte.
[3]"The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2-3."
Stover C., Endo Y., Takahashi M., Lynch N., Constantinescu C., Vorup-Jensen T., Thiel S., Friedl H., Hankeln T., Hall R., Gregory S., Fujita T., Schwaeble W.
Genes Immun. 2:119-127(2001) [PubMed: 11426320] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2).
[4]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed: 16710414] [Abstract]
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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Lymph and Skin.
[6]"The yeast exosome and human PM-Scl are related complexes of 3'-->5' exonucleases."
Allmang C., Petfalski E., Podtelejnikov A., Mann M., Tollervey D., Mitchell P.
Genes Dev. 13:2148-2158(1999) [PubMed: 10465791] [Abstract]
Cited for: CHARACTERIZATION.
[7]"Functional proteomic analysis of human nucleolus."
Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C., Greco A., Hochstrasser D.F., Diaz J.-J.
Mol. Biol. Cell 13:4100-4109(2002) [PubMed: 12429849] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
[8]"Nonsense-mediated mRNA decay in mammalian cells involves decapping, deadenylating, and exonucleolytic activities."
Lejeune F., Li X., Maquat L.E.
Mol. Cell 12:675-687(2003) [PubMed: 14527413] [Abstract]
Cited for: FUNCTION IN NONSENSE-MEDIATED MRNA DECAY, IDENTIFICATION IN A MRNA DECAY COMPLEX WITH RENT1; RENT2 AND RENT3B, SUBCELLULAR LOCATION.
[9]"A protein interaction framework for human mRNA degradation."
Lehner B., Sanderson C.M.
Genome Res. 14:1315-1323(2004) [PubMed: 15231747] [Abstract]
Cited for: INTERACTION WITH PTGES2.
[10]"C1D and hMtr4p associate with the human exosome subunit PM/Scl-100 and are involved in pre-rRNA processing."
Schilders G., van Dijk E., Pruijn G.J.M.
Nucleic Acids Res. 35:2564-2572(2007) [PubMed: 17412707] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH C1D.
[11]Colinge J., Superti-Furga G., Bennett K.L.
Submitted (OCT-2008) to UniProtKB
Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[12]"Solution structure of the HRDC domain of human exosome component 10."
RIKEN structural genomics initiative (RSGI)
Submitted (NOV-2005) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 483-593.
+Additional computationally mapped references.

Cross-references

Sequence databases

X66113 mRNA. Translation: CAA46904.1.
L01457 mRNA. Translation: AAB59352.1.
AJ300188 Genomic DNA. Translation: CAC15569.1.
AL109811 Genomic DNA. Translation: CAI22106.1.
BC039901 mRNA. Translation: AAH39901.1.
BC073788 mRNA. Translation: AAH73788.1.
IPIIPI00009464.
IPI00220336.
PIRA43920.
JH0796.
RefSeqNP_001001998.1.
UniGeneHs.632368

3D structure databases

EntryMethodResolution (Å)ChainPositionsPDBsum
2CPRNMR-A483-593[»]
ModBaseSearch...

Protein-protein interaction databases

IntActQ01780. 29 interactions.

PTM databases

PhosphoSiteQ01780.

2-D gel databases

SWISS-2DPAGEQ01780.

Proteomic databases

PRIDEQ01780.

Genome annotation databases

EnsemblENSG00000171824. Homo sapiens. [Contig view]
GeneID5394.
KEGGhsa:5394.
UCSCuc001asa.1. human.
uc001asb.1. human.

Organism-specific databases

GeneCardsGC01M011060.
H-InvDBHIX0000121.
HGNCHGNC:9138. EXOSC10.
MIM605960. gene.
PharmGKBPA33464.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ01780.
HOVERGENQ01780.
OMAQ01780. YEISNRW.

Gene expression databases

ArrayExpressQ01780.
BgeeQ01780.
CleanExHS_EXOSC10.
GermOnlineENSG00000171824. Homo sapiens.

Family and domain databases

InterProIPR002562. 3_5_exonuclease.
IPR012588. Exosome-assoc_fac_Rrp6_N.
IPR002121. HRDC.
[Graphical view]
PfamPF01612. 3_5_exonuc. 1 hit.
PF00570. HRDC. 1 hit.
PF08066. PMC2NT. 1 hit.
[Graphical view]
SMARTSM00474. 35EXOc. 1 hit.
SM00341. HRDC. 1 hit.
[Graphical view]
PROSITEPS50967. HRDC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio20912.
SOURCESearch...

Entry information

Entry nameEXOSX_HUMAN
AccessionPrimary (citable) accession number: Q01780
Secondary accession number(s): B1AKQ1, Q15158
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: December 1, 2000
Last modified: July 7, 2009
This is version 102 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM

MIM cross-references

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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents