SIL1 - SIL1 nucleotide exchange factor Gene

Also Known as BAP; MSS; ULG5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64374

About SIL1

Cytogenetic location: 5q31.2 Genomic coordinates (GRCh38): 5:138,946,724-139,198,368 (from NCBI)

This gene has 15 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 23.5), thyroid (RPKM 19.7) and 25 other tissues.

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 another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

SIL1 Products (2)

mRNA	Protein	Name
NM_001037633.2	NP_001032722.1	nucleotide exchange factor SIL1 precursor
NM_022464.5	NP_071909.1	nucleotide exchange factor SIL1 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables adenyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	12356756	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	31258504	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12356756	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	12356756	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
nucleotide exchange factor SIL1	BiP-associated protein

SIL1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	SIL1	Q9H173	SGTB	Homo sapiens	Q96EQ0	Y2H Prey Pooling	32296183
Intra	SIL1	Q9H173	SGTB	Homo sapiens	Q96EQ0	Y2H Array	32296183
Intra	SIL1	Q9H173	HSPA5	Homo sapiens	P11021	Anti Tag CoIP	33961781
Intra	SIL1	Q9H173	HSPA5	Homo sapiens	P11021	Anti Tag CoIP	28514442
Intra	SIL1	Q9H173	UBQLN1	Homo sapiens	Q9UMX0	Y2H Prey Pooling	25416956
Intra	SIL1	Q9H173	POC1A	Homo sapiens	Q8NBT0	TAP	31258504
Intra	SIL1	Q9H173	POC1A	Homo sapiens	Q8NBT0	Anti Tag CoIP	28514442
Intra	SIL1	Q9H173	POC1A	Homo sapiens	Q8NBT0	Anti Tag CoIP	33961781
Intra	SIL1	Q9H173	HSPA5	Homo sapiens	P11021	TAP	31258504

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Marinesco-Sjogren Syndrome	Marinesco-Sjögren Syndrome MSS Marinesco-Garland Syndrome Garland-Moorhouse Syndrome Hereditary Oligophrenic Cerebello-Lental Degeneration Oligophrenic Cerebellolenticular Degeneration Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism Marinesco-Sjogren Syndrome-Myopathy Marinesco-Sjogren-Garland Syndrome Marinesco-Sjoegren Syndrome
Apraxia	Apraxias Dyspraxia
Agnosia	Dyspraxia Primary Visual Agnosia Dyspraxia Syndrome Monomodal Visual Amnesia Visual Amnesia Agnosia, Primary Visual Apraxias Alexia
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Constipation
Sjogren Syndrome	Sicca Syndrome Sjogren'S Syndrome Sjögren Syndrome Sjogren-Gougerot Syndrome Keratoconjunctivitis Sicca Sjögren'S Syndrome Xerodermosteosis Dacryosialoadenopathia Atrophicans Gougerot-Houwer-Sjogren Syndrome Gougerot-Sjogren Syndrome Keratoconjunctivitis Sicca-Xerostomia Secreto-Inhibitor-Xerodermostenosis Primary Sjogren Syndrome Primary Sjogren-Gougerot Syndrome Sjogrens Syndrome Primary Sjogrens Syndrome Dry Eye Syndromes
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Myopathy	Muscular Diseases Myopathies
Dandy-Walker Syndrome	Dandy-Walker Malformation DWS Atresia Of Foramina Of Magendie And Luschka Dandy-Walker Complex Dandy-Walker Cyst Dandy-Walker Deformity Dandy Walker Cyst Dw Complex Dandy-Walker Syndrome Or Malformation Dandy-Walker Variant Mega Cisterna Magna Dwm Hydrocephalus, Internal, Dandy-Walker Type Hydrocephalus, Noncommunicating, Dandy-Walker Type Luschka-Magendie Foramina Atresia Isolated Dandy-Walker Malformation Mega-Cisterna Magna Dandy Walker Variant Atresia Of Foramen Of Luschka Atresia Of Foramen Of Magendie Congenital Blockage Of Foramen Magendie
Ataxia With Vitamin E Deficiency	Ataxia With Isolated Vitamin E Deficiency AVED Familial Isolated Vitamin E Deficiency Friedreich-Like Ataxia Familial Isolated Deficiency Of Vitamin E Isolated Vitamin E Deficiency Ataxia, Friedreich-Like, With Selective Vitamin E Deficiency Vitamin E Deficiency, Familial Isolated Ved Friedreich-Like Ataxia With Selective Vitamin E Deficiency Five Friedreich Ataxia Phenotype With Selective Vitamin E Deficiency Vitamin E Familial Isolated, Deficiency Of Ataxia Friedreich-Like With Selective Vitamin E Deficiency
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Aoa1 Ataxia-Telangiectasia-Like Disorder EAOH Eoca-Ha Ataxia With Oculomotor Apraxia Type 1 Ataxia-Oculomotor Apraxia 1 Ataxia-Oculomotor Apraxia Syndrome AOA Ataxia-Telangiectasia-Like Syndrome Ataxia-Oculomotor Apraxia Type 1 Ataxia With Oculomotor Apraxia Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia Early-Onset Cerebellar Ataxia With Hypoalbuminemia Adult Onset Ataxia With Oculomotor Apraxia Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia Scan2 Scar1 Spinocerebellar Ataxia With Axonal Neuropathy Type 2 Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 Atld Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia Cerebellar Ataxia Early-Onset With Hypoalbuminemia Ataxia-Oculomotor Apraxia Spinocerebellar Ataxia, Autosomal Recessive 1
Small Intestine Lymphoma	Small Intestinal Lymphoma
Friedreich Ataxia	Friedreich Ataxia 1 FRDA Friedreich Ataxia With Retained Reflexes Frda1 Fa Friedreich'S Ataxia Hereditary Spinal Ataxia Fa1 Friedreich'S Tabes Hereditary Spinal Sclerosis Spinocerebellar Ataxia, Friedreich Friedreich Spinocerebellar Ataxia Friedrich'S Ataxia
Lens Disease	Lens Diseases
Jackson-Weiss Syndrome	JWS Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	SANDO Mitochondrial Recessive Ataxia Syndrome Spinocerebellar Ataxia With Epilepsy Epilepsy, Progressive Myoclonic 5 Epm5 Miras SCAE Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Progressive Myoclonic Epilepsy Type 5 Pme Type 5 Progressive Myoclonus Epilepsy Type 5 Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome Recessive Mitochondrial Ataxia Syndrome Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome Mscae Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy Epilepsy, Progressive Myoclonic, 5 Ataxia Neuropathy Spectrum
Polycystic Liver Disease	Autosomal Dominant Polycystic Liver Disease Isolated Polycystic Liver Disease Pcld Congenital Cystic Liver Disease Congenital Hepatic Cyst Fibrocystic Liver Disease Isolated Autosomal Dominant Polycystic Liver Disease Adpcld Liver Disease, Polycystic Multiple Cysts Of Liver Pld - [Polycystic Liver Disease] Polycystic Liver Disorder Polycystic Liver Congenital Polycystic Disease Of Liver Congenital Polycystic Liver Disease
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS12921	SIL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SIL1	VGNC	VGNC:65146
Mus musculus	SIL1	MGD	MGI:1932040
Canis familiaris	SIL1	VGNC	VGNC:46173
Rattus norvegicus	SIL1	RGD	RGD:735103
Bos taurus	SIL1	VGNC	VGNC:34622
Macaca mulatta	SIL1	VGNC	VGNC:77301
Others	SIL1	NCBI