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Q9H173

- SIL1_HUMAN

UniProt

Q9H173 - SIL1_HUMAN

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Protein

Nucleotide exchange factor SIL1

Gene

SIL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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. extracellular space Source: UniProt
Complete GO annotation...

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...)1 Publication
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

BgeeiQ9H173.
CleanExiHS_SIL1.
ExpressionAtlasiQ9H173. baseline and differential.
GenevestigatoriQ9H173.

Organism-specific databases

HPAiHPA011949.

Interactioni

Subunit structurei

Interacts with HSPA5.1 Publication

Protein-protein interaction databases

BioGridi122145. 8 interactions.
IntActiQ9H173. 3 interactions.
MINTiMINT-1199811.
STRINGi9606.ENSP00000265195.

Structurei

3D structure databases

ProteinModelPortaliQ9H173.
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.
GeneTreeiENSGT00510000048102.
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

        10         20         30         40         50
MAPQSLPSSR MAPLGMLLGL LMAACFTFCL SHQNLKEFAL TNPEKSSTKE
60 70 80 90 100
TERKETKAEE ELDAEVLEVF HPTHEWQALQ PGQAVPAGSH VRLNLQTGER
110 120 130 140 150
EAKLQYEDKF RNNLKGKRLD INTNTYTSQD LKSALAKFKE GAEMESSKED
160 170 180 190 200
KARQAEVKRL FRPIEELKKD FDELNVVIET DMQIMVRLIN KFNSSSSSLE
210 220 230 240 250
EKIAALFDLE YYVHQMDNAQ DLLSFGGLQV VINGLNSTEP LVKEYAAFVL
260 270 280 290 300
GAAFSSNPKV QVEAIEGGAL QKLLVILATE QPLTAKKKVL FALCSLLRHF
310 320 330 340 350
PYAQRQFLKL GGLQVLRTLV QEKGTEVLAV RVVTLLYDLV TEKMFAEEEA
360 370 380 390 400
ELTQEMSPEK LQQYRQVHLL PGLWEQGWCE ITAHLLALPE HDAREKVLQT
410 420 430 440 450
LGVLLTTCRD RYRQDPQLGR TLASLQAEYQ VLASLELQDG EDEGYFQELL
460
GSVNSLLKEL R
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.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122145. 8 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.
GeneTreei ENSGT00510000048102.
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

Bgeei Q9H173.
CleanExi HS_SIL1.
ExpressionAtlasi Q9H173. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
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 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