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Protein

Nucleotide exchange factor SIL1

Gene

SIL1

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

  • unfolded protein binding Source: UniProtKB

GO - Biological processi

  • intracellular protein transport Source: UniProtKB
  • protein folding Source: UniProtKB

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.

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.

PTM databases

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.
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

  • unfolded protein binding Source: UniProtKB

Protein-protein interaction databases

BioGridi122145. 28 interactors.
IntActiQ9H173. 8 interactors.
MINTiMINT-1199811.
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.

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)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:rs35581768Ensembl.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

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: September 27, 2017
This is version 131 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. 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