Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9EPK6 (SIL1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Nucleotide exchange factor SIL1
Gene names
Name:Sil1
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length465 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5 By similarity.

Subunit structure

Interacts with HSPA5. Ref.4

Subcellular location

Endoplasmic reticulum lumen Ref.4.

Tissue specificity

Expressed in several areas of the brain including the cerebellum, cerebral cortex, cortical neurons, glial cells of white matter, hippocampus, olfactory bulb, Purkinje cells, inferior olive and the choroids plexus. Also expressed in the eye and skeletal muscle. Ref.4 Ref.5 Ref.6

Developmental stage

Expressed in the developing retina and epithelial cells of the lens at E12.5. Expressed in the developing cerebral cortex at E15.5. Ref.5

Post-translational modification

N-glycosylated By similarity.

Disruption phenotype

Mice develop adult-onset ataxia with cerebellar Purkinje cell loss. Affected cells have intracellular protein accumulations in the endoplasmic reticulum and the nucleus. Ref.5

Sequence similarities

Belongs to the SIL1 family.

Ontologies

Keywords
   Biological processProtein transport
Translocation
Transport
   Cellular componentEndoplasmic reticulum
   DomainSignal
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processprotein transport

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentendoplasmic reticulum

Inferred from direct assay Ref.4. Source: MGI

endoplasmic reticulum lumen

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3131 Potential
Chain32 – 465434Nucleotide exchange factor SIL1
PRO_0000223355

Regions

Region1 – 260260Interaction with HSPA5 and localization to the endoplasmic reticulum

Amino acid modifications

Glycosylation1971N-linked (GlcNAc...) Potential
Glycosylation2401N-linked (GlcNAc...) Potential

Experimental info

Sequence conflict1431K → T in CAC17789. Ref.1
Sequence conflict1521K → Q in CAC17789. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9EPK6 [UniParc].

Last modified February 21, 2006. Version 2.
Checksum: C3E2DB44394F1161

FASTA46552,430
        10         20         30         40         50         60 
MAPQHLPSTR MASPGMLLGL LLTSCLTLCL SCQNSNNFAL TNPEKSIHQE SDTKETREEE 

        70         80         90        100        110        120 
ELDTEILEVF HPTQEWQTLQ PGQAVPAGSH VRMNLQTGVN EVKLQQEDKF QNNLKGFKRG 

       130        140        150        160        170        180 
RRLDINANTY TSQDLKSALA KFKEGTEMEN SKDELARQAT VKQLFRPIEE LKKEFDELNV 

       190        200        210        220        230        240 
VLETDMQIMV RLINKFNSSS SSLEEKVAAL FDLEYYVHQM DNAQDLLSFG GLQVVINGLN 

       250        260        270        280        290        300 
STEPLVKEYA AFVLGAAFSS NPKVQVEAIE GGALQKLLVI LATNQPLPAK KKVLFALCSL 

       310        320        330        340        350        360 
LRHFPYAQQQ FLKLGGLQVL RSLVQEKSAK VLAVRVVTLL YDLVTEKMFA EEEAELTQDS 

       370        380        390        400        410        420 
SPEKLQQYRQ VQLLPGLQEQ GWCEITAQLL ALPEHDAREK VLQTLGALLT TCRDRYRQDL 

       430        440        450        460 
QLSRTLGRLQ AEYQALASLE LQEGEDDGYF RELLASINSL MKELR 

« Hide

References

« Hide 'large scale' references
[1]"LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum."
Tyson J.R., Stirling C.J.
EMBO J. 19:6440-6452(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"The transcriptional landscape of the mammalian genome."
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. expand/collapse author list , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]"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].
Strain: FVB/N.
Tissue: Mammary tumor.
[4]"Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP."
Zhao L., Longo-Guess C., Harris B.S., Lee J.-W., Ackerman S.L.
Nat. Genet. 37:974-979(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH HSPA5, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[5]"The gene disrupted in Marinesco-Sjoegren syndrome encodes SIL1, an HSPA5 cochaperone."
Anttonen A.-K., Mahjneh I., Haemaelaeinen R.H., Lagier-Tourenne C., Kopra O., Waris L., Anttonen M., Joensuu T., Kalimo H., Paetau A., Tranebjaerg L., Chaigne D., Koenig M., Eeg-Olofsson O., Udd B., Somer M., Somer H., Lehesjoki A.-E.
Nat. Genet. 37:1309-1311(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE.
[6]"Mutations in SIL1 cause Marinesco-Sjoegren syndrome, a cerebellar ataxia with cataract and myopathy."
Senderek J., Krieger M., Stendel C., Bergmann C., Moser M., Breitbach-Faller N., Rudnik-Schoeneborn S., Blaschek A., Wolf N.I., Harting I., North K., Smith J., Muntoni F., Brockington M., Quijano-Roy S., Renault F., Herrmann R., Hendershot L.M. expand/collapse author list , Schroeder J.M., Lochmueller H., Topaloglu H., Voit T., Weis J., Ebinger F., Zerres K.
Nat. Genet. 37:1312-1314(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ297884 mRNA. Translation: CAC17789.1.
AK170415 mRNA. Translation: BAE41781.1.
BC016119 mRNA. Translation: AAH16119.1.
BC016466 mRNA. Translation: AAH16466.1.
CCDSCCDS29140.1.
RefSeqNP_109674.2. NM_030749.2.
XP_006526428.1. XM_006526365.1.
XP_006526429.1. XM_006526366.1.
UniGeneMm.291482.

3D structure databases

ProteinModelPortalQ9EPK6.
SMRQ9EPK6. Positions 199-463.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid219881. 2 interactions.
IntActQ9EPK6. 1 interaction.
MINTMINT-4128883.

PTM databases

PhosphoSiteQ9EPK6.

Proteomic databases

MaxQBQ9EPK6.
PaxDbQ9EPK6.
PRIDEQ9EPK6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000025215; ENSMUSP00000025215; ENSMUSG00000024357.
GeneID81500.
KEGGmmu:81500.
UCSCuc008emc.2. mouse.

Organism-specific databases

CTD64374.
MGIMGI:1932040. Sil1.

Phylogenomic databases

eggNOGNOG310365.
GeneTreeENSGT00510000048102.
HOGENOMHOG000154326.
HOVERGENHBG093955.
InParanoidQ9EPK6.
KOK14001.
OMAQGWCEIT.
OrthoDBEOG72G176.
PhylomeDBQ9EPK6.
TreeFamTF324307.

Gene expression databases

BgeeQ9EPK6.
GenevestigatorQ9EPK6.

Family and domain databases

Gene3D1.25.10.10. 1 hit.
InterProIPR011989. ARM-like.
IPR016024. ARM-type_fold.
[Graphical view]
SUPFAMSSF48371. SSF48371. 1 hit.
ProtoNetSearch...

Other

ChiTaRSSIL1. mouse.
NextBio350402.
PROQ9EPK6.
SOURCESearch...

Entry information

Entry nameSIL1_MOUSE
AccessionPrimary (citable) accession number: Q9EPK6
Secondary accession number(s): Q91V34
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2006
Last sequence update: February 21, 2006
Last modified: July 9, 2014
This is version 93 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot