Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MSS
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

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
rs370290043	C>A,T	Pathogenic	Intron variant
rs372816951	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs774441811	G>A	Pathogenic	Coding sequence variant, stop gained
rs886043087	C>-	Pathogenic	Coding sequence variant, frameshift variant

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
MIRT1349413	hsa-miR-3690	CLIP-seq
MIRT1349414	hsa-miR-4254	CLIP-seq
MIRT1349415	hsa-miR-4308	CLIP-seq
MIRT1349416	hsa-miR-4326	CLIP-seq
MIRT1349417	hsa-miR-4722-3p	CLIP-seq
MIRT1349418	hsa-miR-874	CLIP-seq
MIRT2103532	hsa-miR-1245b-3p	CLIP-seq
MIRT2103533	hsa-miR-3660	CLIP-seq
MIRT2103534	hsa-miR-3915	CLIP-seq
MIRT2103535	hsa-miR-3928	CLIP-seq
MIRT2103536	hsa-miR-4261	CLIP-seq
MIRT2103537	hsa-miR-4496	CLIP-seq
MIRT2103538	hsa-miR-4526	CLIP-seq
MIRT2103539	hsa-miR-483-3p	CLIP-seq
MIRT2103532	hsa-miR-1245b-3p	CLIP-seq
MIRT2103533	hsa-miR-3660	CLIP-seq
MIRT2103534	hsa-miR-3915	CLIP-seq
MIRT2103535	hsa-miR-3928	CLIP-seq
MIRT2103536	hsa-miR-4261	CLIP-seq
MIRT2103537	hsa-miR-4496	CLIP-seq
MIRT2103538	hsa-miR-4526	CLIP-seq
MIRT2622798	hsa-miR-1910	CLIP-seq
MIRT2622799	hsa-miR-324-5p	CLIP-seq
MIRT2622800	hsa-miR-455-3p	CLIP-seq
MIRT2622799	hsa-miR-324-5p	CLIP-seq
MIRT2622800	hsa-miR-455-3p	CLIP-seq

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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
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0006457	Process	Protein folding	NAS	11101517
GO:0006613	Process	Cotranslational protein targeting to membrane	ISS
GO:0006886	Process	Intracellular protein transport	NAS	11101517
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0051082	Function	Unfolded protein binding	NAS	11101517

MIM	HGNC	e!Ensembl
608005	24624	ENSG00000120725

Protein

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

	KEGG
	Protein processing in endoplasmic reticulum

Show/Hide Causal Diseases (14)

Disease term	Disease name	dbSNP ID	References
Causal
Ataxia	Ataxias, Hereditary	rs606231134, rs119103243, rs119103244, rs119103245, rs606231135, rs119468005, rs119468006, rs387906298, rs606231138, rs606231139, rs119468008, rs387906299, rs606231292, rs1553281318, rs794727986 View all (52 more)
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Cerebellar ataxia	Cerebellar Ataxia, Early Onset, Cerebellar Ataxia, Late Onset	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Marinesco-sjogren syndrome	Marinesco-Sjogren syndrome, Marinesco-Sj�gren syndrome	rs119456966, rs370290043	25929793, 24176978, 16282977, 11528383, 16650075
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Muscular dystrophy	Muscular Dystrophy	rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913 View all (15 more)
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17013881
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Source
Unknown
Specific learning disorder	Specific learning disability	ClinVar
Alzheimer disease	Alzheimer disease	GWAS
Insomnia	Insomnia	GWAS
Atrial Fibrillation	Atrial Fibrillation	GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Wallerian degeneration of the pyramidal tract	Associate	24176978

SIL1 (SIL1 nucleotide exchange factor)