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Protein

Nucleotide exchange factor SIL1

Gene

SIL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • adenyl-nucleotide exchange factor activity Source: GO_Central
  • unfolded protein binding Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processProtein 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
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000120725.12
HGNCiHGNC:24624 SIL1
MIMi608005 gene
neXtProtiNX_Q9H173

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Marinesco-Sjoegren syndrome (MSS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal 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.
See also OMIM:248800

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi64374
GeneReviewsiSIL1
MalaCardsiSIL1
MIMi248800 phenotype
OpenTargetsiENSG00000120725
Orphaneti559 Marinesco-Sjogren syndrome
PharmGKBiPA142670916

Polymorphism and mutation databases

BioMutaiSIL1
DMDMi74733533

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 31Sequence analysisAdd BLAST31
ChainiPRO_000022335432 – 461Nucleotide exchange factor SIL1Add BLAST430

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi193N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi236N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

N-glycosylated.2 Publications

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9H173
MaxQBiQ9H173
PaxDbiQ9H173
PeptideAtlasiQ9H173
PRIDEiQ9H173
ProteomicsDBi80376

PTM databases

GlyConnecti1581
iPTMnetiQ9H173
PhosphoSitePlusiQ9H173

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

BgeeiENSG00000120725 Expressed in 199 organ(s), highest expression level in placenta
CleanExiHS_SIL1
ExpressionAtlasiQ9H173 baseline and differential
GenevisibleiQ9H173 HS

Organism-specific databases

HPAiHPA011949

Interactioni

Subunit structurei

Interacts with HSPA5.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
UBQLN1Q9UMX03EBI-2840325,EBI-741480

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122145, 29 interactors
IntActiQ9H173, 8 interactors
MINTiQ9H173
STRINGi9606.ENSP00000265195

Structurei

3D structure databases

ProteinModelPortaliQ9H173
SMRiQ9H173
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 256Interaction with HSPA5 and localization to the endoplasmic reticulumBy similarityAdd BLAST256

Sequence similaritiesi

Belongs to the SIL1 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2160 Eukaryota
ENOG410Y90B LUCA
GeneTreeiENSGT00510000048102
HOGENOMiHOG000154326
HOVERGENiHBG093955
InParanoidiQ9H173
KOiK14001
PhylomeDBiQ9H173
TreeFamiTF324307

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
SUPFAMiSSF48371 SSF48371, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RIU8D6RIU8_HUMAN
Nucleotide exchange factor SIL1
SIL1
163Annotation score:
D6RBP7D6RBP7_HUMAN
Nucleotide exchange factor SIL1
SIL1
123Annotation score:
D6R940D6R940_HUMAN
Nucleotide exchange factor SIL1
SIL1
94Annotation score:
D6REA1D6REA1_HUMAN
Nucleotide exchange factor SIL1
SIL1
468Annotation score:
A0RZB6A0RZB6_HUMAN
Endoplasmic reticulum chaperone SIL...
SIL1
83Annotation score:
D6RG16D6RG16_HUMAN
Nucleotide exchange factor SIL1
SIL1
123Annotation score:
D6RAI3D6RAI3_HUMAN
Nucleotide exchange factor SIL1
SIL1
125Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti57K → E in BAC11096 (PubMed:16303743).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03449580Q → R. Corresponds to variant dbSNP:rs35581768EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliQ9H173
SMRiQ9H173
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122145, 29 interactors
IntActiQ9H173, 8 interactors
MINTiQ9H173
STRINGi9606.ENSP00000265195

PTM databases

GlyConnecti1581
iPTMnetiQ9H173
PhosphoSitePlusiQ9H173

Polymorphism and mutation databases

BioMutaiSIL1
DMDMi74733533

Proteomic databases

EPDiQ9H173
MaxQBiQ9H173
PaxDbiQ9H173
PeptideAtlasiQ9H173
PRIDEiQ9H173
ProteomicsDBi80376

Protocols and materials databases

DNASUi64374
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265195; ENSP00000265195; ENSG00000120725
ENST00000394817; ENSP00000378294; ENSG00000120725
GeneIDi64374
KEGGihsa:64374
UCSCiuc003ldo.4 human

Organism-specific databases

CTDi64374
DisGeNETi64374
EuPathDBiHostDB:ENSG00000120725.12
GeneCardsiSIL1
GeneReviewsiSIL1
HGNCiHGNC:24624 SIL1
HPAiHPA011949
MalaCardsiSIL1
MIMi248800 phenotype
608005 gene
neXtProtiNX_Q9H173
OpenTargetsiENSG00000120725
Orphaneti559 Marinesco-Sjogren syndrome
PharmGKBiPA142670916
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2160 Eukaryota
ENOG410Y90B LUCA
GeneTreeiENSGT00510000048102
HOGENOMiHOG000154326
HOVERGENiHBG093955
InParanoidiQ9H173
KOiK14001
PhylomeDBiQ9H173
TreeFamiTF324307

Miscellaneous databases

ChiTaRSiSIL1 human
GeneWikiiSIL1
GenomeRNAii64374
PROiPR:Q9H173
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000120725 Expressed in 199 organ(s), highest expression level in placenta
CleanExiHS_SIL1
ExpressionAtlasiQ9H173 baseline and differential
GenevisibleiQ9H173 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
SUPFAMiSSF48371 SSF48371, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSIL1_HUMAN
AccessioniPrimary (citable) accession number: Q9H173
Secondary accession number(s): D3DQC2, Q8N2L3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2006
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 137 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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