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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64374
Gene name	SIL1 nucleotide exchange factor
Gene symbol	SIL1
Synonyms (NCBI Gene)	BAPMSSULG5
Chromosome	5
Chromosome location	5q31.2
Summary	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

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
GO:0005783	Component	Endoplasmic reticulum	IDA	12356756
GO:0005783	Component	Endoplasmic reticulum	IEA
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:0015031	Process	Protein transport	IEA
GO:0042802	Function	Identical protein binding	IPI	31258504
GO:0051082	Function	Unfolded protein binding	NAS	11101517

MIM	HGNC	e!Ensembl
608005	24624	ENSG00000120725

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

314

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
	Pathogenic; Likely pathogenic	rs779649580, rs1561799392, rs2546366412, rs1768517145, rs751236516, rs794726659, rs548535414, rs119456965, rs777752978, rs119456966, rs119456967, rs587776544, rs869320725, rs2546421783, rs2546421757 View all (9 more)	RCV001329282 RCV001384264 RCV002031734 RCV002284294 RCV000002740 RCV000002741 RCV000002742 RCV000002743 RCV000002744 RCV000002745 RCV000002746 RCV000002747 RCV000002748 RCV002571532 RCV002875663 RCV002947280 RCV002932939 RCV002998997 RCV003013251 RCV003123521 RCV003134012 RCV001782768 RCV003606213 RCV000778754 RCV000987604
See cases	Likely pathogenic; Pathogenic	rs370290043	RCV002252076

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs57028146	RCV005895749
Cervical cancer	Benign	rs57028146	RCV005895751
Cholangiocarcinoma	Benign	rs11555154	RCV005894171
Lung cancer	Likely benign	rs766089372	RCV005930376
Malignant tumor of esophagus	Benign	rs57028146	RCV005895750
Ovarian serous cystadenocarcinoma	Benign	rs57028146	RCV005895753
Sarcoma	Benign	rs57028146	RCV005895752
SIL1-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs115800498, rs899502101, rs146539320, rs192255604, rs199890503, rs34214251, rs1208320948, rs1766785582, rs1278977216, rs779265176, rs115591710, rs146164392, rs773520401, rs144192049, rs375567857	RCV003915100 RCV003926679 RCV004757552 RCV003937876 RCV003940013 RCV003930122 RCV003896283 RCV003984668 RCV003979293 RCV003962261 RCV003902468 RCV003935374 RCV003943013 RCV003926222 RCV003978101
Uterine corpus endometrial carcinoma	Benign	rs57028146	RCV005895754
X-linked intellectual disability-short stature-overweight syndrome	Benign; Likely benign	rs149242794	RCV001258232

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)