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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 nameGene Name - the full gene name approved by the HGNC.
SIL1 nucleotide exchange factor
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SIL1
SynonymsGene synonyms aliases
BAP, MSS, ULG5
ChromosomeChromosome number
5
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.2
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
GO ID Ontology Definition Evidence Reference
GO:0000774 Function Adenyl-nucleotide exchange factor activity IDA 12356756
GO:0005515 Function Protein binding IPI 12356756, 25416956, 32296183
GO:0005615 Component Extracellular space HDA 16502470
GO:0005783 Component Endoplasmic reticulum IDA 12356756
GO:0005783 Component Endoplasmic reticulum NAS 11101517
Other IDsOther 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
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
Sequence 
MAPQSLPSSRMAPLGMLLGLLMAACFTFCLSHQNLKEFALTNPEKSSTKETERKETKAEE
ELDAEVLEVFHPTHEWQALQPGQAVPAGSHVRLNLQTGEREAKLQYEDKFRNNLKGKRLD
INTNTYTSQDLKSALAKFKEGAEMESSKEDKARQAEVKRLFRPIEELKKDFDELNVVIET
DMQIMVRLINKFNSSSSSLEEKIAALFDLEYYVHQMDNAQDLLSFGGLQVVINGLNSTEP
LVKEYAAFVLGAAFSSNPKVQVEAIEGGALQKLLVILATEQPLTAKKKVLFALCSLLRHF
PYAQRQFLKLGGLQVLRTLVQEKGTEVLAVRVVTLLYDLVTEKMFAEEEAELTQEMSPEK
LQQYRQVHLLPGLWEQGWCEITAHLLALPEHDAREKVLQTLGVLLTTCRDRYRQDPQLGR
TLASLQAEYQVLASLELQDGEDEGYFQELLGSVNSLLKELR
Sequence length 461
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
  Protein processing in endoplasmic reticulum  
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Ataxia Ataxias, Hereditary rs606231134, rs119103243, rs119103244, rs119103245, rs606231135, rs119468005, rs119468006, rs387906298, rs606231138, rs606231139, rs119468008, rs387906299, rs606231292, rs1553281318, rs794727986, rs1563130387, rs797045109, rs797045217, rs578189699, rs797046025, rs797046024, rs797046026, rs764847439, rs780451185, rs863224929, rs771578775, rs755933881, rs199874519, rs1085307053, rs886042265, rs201908721, rs747150601, rs1057519343, rs752130338, rs748118737, rs781518112, rs140246430, rs1554553667, rs1554573328, rs1554676394, rs1554753528, rs1203553546, rs1554829141, rs974677376, rs763325410, rs1554721227, rs1554226673, rs1554768245, rs1553280621, rs755531859, rs765966679, rs1554247806, rs750544827, rs768958602, rs1563941569, rs1564136499, rs1269308421, rs767584322, rs751637699, rs759460806, rs1271428051, rs752224921, rs1572040505, rs767406263, rs1590463470, rs771955377, rs1659738028
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cerebellar ataxia Cerebellar Ataxia, Early Onset, Cerebellar Ataxia, Late Onset rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Unknown
Disease name Disease term dbSNP ID References
Cubitus valgus Acquired cubitus valgus
Avascular necrosis of the capital femoral epiphysis Avascular necrosis of the capital femoral epiphysis
Cerebellar cortical atrophy Cerebellar cortical atrophy
Cerebellar degenerations Cerebellar Degenerations, Primary

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