SIL1 - SIL1 nucleotide exchange factor Gene

Homo sapiens

Also known as BAP; MSS; ULG5

Gene ID: 64374 | Gene type: protein coding

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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12921	SIL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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