SIL1 (SIL1 nucleotide exchange factor)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64374
Gene name Gene Name - the full gene name approved by the HGNC.
SIL1 nucleotide exchange factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SIL1
Synonyms (NCBI Gene) Gene synonyms aliases
BAP, MSS, ULG5
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for ano
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs115800498 G>A Benign-likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs119456966 G>A Pathogenic Stop gained, coding sequence variant
rs148927511 C>T Conflicting-interpretations-of-pathogenicity, benign-likely-benign Coding sequence variant, synonymous variant
rs199890503 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, synonymous variant
rs368666457 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(31)
miRTarBase ID miRNA Experiments Reference
MIRT040372 hsa-miR-615-3p CLASH 23622248
MIRT1349409 hsa-miR-1343 CLIP-seq
MIRT1349410 hsa-miR-146b-3p CLIP-seq
MIRT1349411 hsa-miR-3074-5p CLIP-seq
MIRT1349412 hsa-miR-3173-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0000774 Function Adenyl-nucleotide exchange factor activity IBA
GO:0000774 Function Adenyl-nucleotide exchange factor activity IDA 12356756
GO:0005515 Function Protein binding IPI 12356756, 24473200, 25416956, 28514442, 31258504, 32296183, 33961781
GO:0005615 Component Extracellular space HDA 16502470
GO:0005783 Component Endoplasmic reticulum IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608005 24624 ENSG00000120725
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9H173
Protein name Nucleotide exchange factor SIL1 (BiP-associated protein) (BAP)
Protein function Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5.
PDB 6LBN , 6LEY , 8PQL , 8Q7R
Family and domains
Tissue specificity TISSUE SPECIFICITY: 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
Sequence 
MAPQSLPSSRMAPLGMLLGLLMAACFTFCLSHQNLKEFALTNPEKSSTKETERKETKAEE
ELDAEVLEVFHPTHEWQALQPGQAVPAGSHVRLNLQTGEREAKLQYEDKFRNNLKGKRLD
INTNTYTSQDLKSALAKFKEGAEMESSKEDKARQAEVKRLFRPIEELKKDFDELNVVIET
DMQIMVRLINKFNSSSSSLEEKIAALFDLEYYVHQMDNAQDLLSFGGLQVVINGLNSTEP
LVKEYAAFVLGAAFSSNPKVQVEAIEGGALQKLLVILATEQPLTAKKKVLFALCSLLRHF
PYAQRQFLKLGGLQVLRTLVQEKGTEVLAVRVVTLLYDLVTEKMFAEEEAELTQEMSPEK
LQQYRQVHLLPGLWEQGWCEITAHLLALPEHDAREKVLQTLGVLLTTCRDRYRQDPQLGR
TLASLQAEYQVLASLELQDGEDEGYFQELLGSVNSLLKELR
Sequence length 461
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Protein processing in endoplasmic reticulum  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Marinesco-Sjogren Syndrome rs119456966, rs370290043 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Intellectual Disability-Short Stature-Overweight Syndrome, X-Linked x-linked intellectual disability-short stature-overweight syndrome N/A N/A ClinVar
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Associate 24176978, 34830330
Cataract Associate 24176978, 24755310
Cerebellar Diseases Associate 24176978
Cognition Disorders Associate 24176978
Delayed Cranial Ossification due to CBFB Haploinsufficiency Associate 35617825
Mitochondrial Diseases Associate 30293566
Muscle Weakness Associate 34830330
Muscular Diseases Associate 24176978
Spinocerebellar Degenerations Associate 19471582, 21873089, 24176978, 24755310, 27544240, 30293566, 34830330
Vacuolar myopathy Associate 21873089