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Q9H173

- SIL1_HUMAN

UniProt

Q9H173 - SIL1_HUMAN

Protein

Nucleotide exchange factor SIL1

Gene

SIL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5.1 Publication

    GO - Molecular functioni

    1. unfolded protein binding Source: UniProtKB

    GO - Biological processi

    1. intracellular protein transport Source: UniProtKB
    2. protein folding Source: UniProtKB

    Keywords - Biological processi

    Protein transport, Translocation, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Nucleotide exchange factor SIL1
    Alternative name(s):
    BiP-associated protein
    Short name:
    BAP
    Gene namesi
    Name:SIL1
    ORF Names:UNQ545/PRO836
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:24624. SIL1.

    Subcellular locationi

    Endoplasmic reticulum lumen 2 Publications

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB
    2. endoplasmic reticulum lumen Source: UniProtKB-SubCell
    3. extracellular space Source: UniProt

    Keywords - Cellular componenti

    Endoplasmic reticulum

    Pathology & Biotechi

    Involvement in diseasei

    Marinesco-Sjoegren syndrome (MSS) [MIM:248800]: Autosomal recessive multisystem disorder which is characterized by cerebellar ataxia due to cerebellar atrophy, with Purkinje and granule cell loss and myopathy featuring marked muscle replacement with fat and connective tissue. Other cardinal features include bilateral cataracts, hypergonadotrophic hypogonadism and mild to severe mental retardation. Skeletal abnormalities, short stature, dysarthria, strabismus and nystagmus are also frequent findings. Mutational inactivation of this protein may result in ER stress-induced cell death signaling or malfunctioning chaperone machineries that mishandle client proteins which are critical for the organs targeted in MSS.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi248800. phenotype.
    Orphaneti559. Marinesco-Sjogren syndrome.
    PharmGKBiPA142670916.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3131Sequence AnalysisAdd
    BLAST
    Chaini32 – 461430Nucleotide exchange factor SIL1PRO_0000223354Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi193 – 1931N-linked (GlcNAc...)2 Publications
    Glycosylationi236 – 2361N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    N-glycosylated.2 Publications

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ9H173.
    PaxDbiQ9H173.
    PRIDEiQ9H173.

    PTM databases

    PhosphoSiteiQ9H173.

    Expressioni

    Tissue specificityi

    Highly expressed in tissues which produce large amounts of secreted proteins such as kidney, liver and placenta. Also expressed in colon, heart, lung, ovary, pancreas, peripheral leukocyte, prostate, spleen and thymus. Expressed at low levels throughout the brain.2 Publications

    Developmental stagei

    Expressed in fetal kidney, fetal lung, fetal liver and at low levels in fetal brain.1 Publication

    Gene expression databases

    ArrayExpressiQ9H173.
    BgeeiQ9H173.
    CleanExiHS_SIL1.
    GenevestigatoriQ9H173.

    Organism-specific databases

    HPAiHPA011949.

    Interactioni

    Subunit structurei

    Interacts with HSPA5.1 Publication

    Protein-protein interaction databases

    BioGridi122145. 6 interactions.
    IntActiQ9H173. 3 interactions.
    MINTiMINT-1199811.
    STRINGi9606.ENSP00000265195.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H173.
    SMRiQ9H173. Positions 195-459.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 256256Interaction with HSPA5 and localization to the endoplasmic reticulumBy similarityAdd
    BLAST

    Sequence similaritiesi

    Belongs to the SIL1 family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG310365.
    HOGENOMiHOG000154326.
    HOVERGENiHBG093955.
    InParanoidiQ9H173.
    KOiK14001.
    PhylomeDBiQ9H173.
    TreeFamiTF324307.

    Family and domain databases

    Gene3Di1.25.10.10. 1 hit.
    InterProiIPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    [Graphical view]
    SUPFAMiSSF48371. SSF48371. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q9H173-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAPQSLPSSR MAPLGMLLGL LMAACFTFCL SHQNLKEFAL TNPEKSSTKE    50
    TERKETKAEE ELDAEVLEVF HPTHEWQALQ PGQAVPAGSH VRLNLQTGER 100
    EAKLQYEDKF RNNLKGKRLD INTNTYTSQD LKSALAKFKE GAEMESSKED 150
    KARQAEVKRL FRPIEELKKD FDELNVVIET DMQIMVRLIN KFNSSSSSLE 200
    EKIAALFDLE YYVHQMDNAQ DLLSFGGLQV VINGLNSTEP LVKEYAAFVL 250
    GAAFSSNPKV QVEAIEGGAL QKLLVILATE QPLTAKKKVL FALCSLLRHF 300
    PYAQRQFLKL GGLQVLRTLV QEKGTEVLAV RVVTLLYDLV TEKMFAEEEA 350
    ELTQEMSPEK LQQYRQVHLL PGLWEQGWCE ITAHLLALPE HDAREKVLQT 400
    LGVLLTTCRD RYRQDPQLGR TLASLQAEYQ VLASLELQDG EDEGYFQELL 450
    GSVNSLLKEL R 461
    Length:461
    Mass (Da):52,085
    Last modified:March 1, 2001 - v1
    Checksum:iC4DD7E880A610880
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti57 – 571K → E in BAC11096. (PubMed:16303743)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti80 – 801Q → R.
    Corresponds to variant rs35581768 [ dbSNP | Ensembl ].
    VAR_034495

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ299442 mRNA. Translation: CAC17773.1.
    AF547994 mRNA. Translation: AAN84477.1.
    AY358950 mRNA. Translation: AAQ89309.1.
    AK074624 mRNA. Translation: BAC11096.1.
    AK075177 mRNA. Translation: BAC11452.1.
    CH471062 Genomic DNA. Translation: EAW62120.1.
    CH471062 Genomic DNA. Translation: EAW62121.1.
    BC011568 mRNA. Translation: AAH11568.1.
    CCDSiCCDS4209.1.
    RefSeqiNP_001032722.1. NM_001037633.1.
    NP_071909.1. NM_022464.4.
    UniGeneiHs.483521.

    Genome annotation databases

    EnsembliENST00000265195; ENSP00000265195; ENSG00000120725.
    ENST00000394817; ENSP00000378294; ENSG00000120725.
    GeneIDi64374.
    KEGGihsa:64374.
    UCSCiuc003ldo.3. human.

    Polymorphism databases

    DMDMi74733533.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ299442 mRNA. Translation: CAC17773.1 .
    AF547994 mRNA. Translation: AAN84477.1 .
    AY358950 mRNA. Translation: AAQ89309.1 .
    AK074624 mRNA. Translation: BAC11096.1 .
    AK075177 mRNA. Translation: BAC11452.1 .
    CH471062 Genomic DNA. Translation: EAW62120.1 .
    CH471062 Genomic DNA. Translation: EAW62121.1 .
    BC011568 mRNA. Translation: AAH11568.1 .
    CCDSi CCDS4209.1.
    RefSeqi NP_001032722.1. NM_001037633.1.
    NP_071909.1. NM_022464.4.
    UniGenei Hs.483521.

    3D structure databases

    ProteinModelPortali Q9H173.
    SMRi Q9H173. Positions 195-459.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122145. 6 interactions.
    IntActi Q9H173. 3 interactions.
    MINTi MINT-1199811.
    STRINGi 9606.ENSP00000265195.

    PTM databases

    PhosphoSitei Q9H173.

    Polymorphism databases

    DMDMi 74733533.

    Proteomic databases

    MaxQBi Q9H173.
    PaxDbi Q9H173.
    PRIDEi Q9H173.

    Protocols and materials databases

    DNASUi 64374.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265195 ; ENSP00000265195 ; ENSG00000120725 .
    ENST00000394817 ; ENSP00000378294 ; ENSG00000120725 .
    GeneIDi 64374.
    KEGGi hsa:64374.
    UCSCi uc003ldo.3. human.

    Organism-specific databases

    CTDi 64374.
    GeneCardsi GC05M138282.
    GeneReviewsi SIL1.
    HGNCi HGNC:24624. SIL1.
    HPAi HPA011949.
    MIMi 248800. phenotype.
    608005. gene.
    neXtProti NX_Q9H173.
    Orphaneti 559. Marinesco-Sjogren syndrome.
    PharmGKBi PA142670916.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG310365.
    HOGENOMi HOG000154326.
    HOVERGENi HBG093955.
    InParanoidi Q9H173.
    KOi K14001.
    PhylomeDBi Q9H173.
    TreeFami TF324307.

    Miscellaneous databases

    GeneWikii SIL1.
    GenomeRNAii 64374.
    NextBioi 66295.
    PROi Q9H173.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H173.
    Bgeei Q9H173.
    CleanExi HS_SIL1.
    Genevestigatori Q9H173.

    Family and domain databases

    Gene3Di 1.25.10.10. 1 hit.
    InterProi IPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    [Graphical view ]
    SUPFAMi SSF48371. SSF48371. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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. "BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP."
      Chung K.T., Shen Y., Hendershot L.M.
      J. Biol. Chem. 277:47557-47563(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INTERACTION WITH HSPA5, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, GLYCOSYLATION.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
      Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
      , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
      DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Embryo and Placenta.
    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: Skin.
    7. Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, INVOLVEMENT IN MSS.
    8. Cited for: INVOLVEMENT IN MSS.
    9. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-193.
      Tissue: Liver.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiSIL1_HUMAN
    AccessioniPrimary (citable) accession number: Q9H173
    Secondary accession number(s): D3DQC2, Q8N2L3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2006
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 105 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 5
      Human chromosome 5: 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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3