1. Gene
  2. SIL1 - SIL1 nucleotide exchange factor Gene

SIL1 - SIL1 nucleotide exchange factor Gene

中文名称:SIL1 核苷酸交换因子

种属: Homo sapiens

同用名: BAP; MSS; ULG5

基因 ID: 64374 | 基因类型: protein coding

关于 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.

功能概要

该基因编码常驻内质网 (ER) 、具有 N 末端 ER 靶向序列的 N 连接糖蛋白、2 个推定的 N 糖基化位点和一个 C 末端 ER 保留信号。该蛋白作为另一种未折叠蛋白反应蛋白的核苷酸交换因子发挥作用。该基因的突变与 Marinesco-Sjogren 综合征有关。已经表征了替代转录剪接变体。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables adenyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
12356756 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
31258504 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12356756 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
12356756 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

nucleotide exchange factor SIL1

BiP-associated protein

SIL1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SIL1 Q9H173 SGTB Homo sapiens Q96EQ0 32296183
种属内
SIL1 Q9H173 SGTB Homo sapiens Q96EQ0 32296183
种属内
SIL1 Q9H173 HSPA5 Homo sapiens P11021 33961781
种属内
SIL1 Q9H173 HSPA5 Homo sapiens P11021 28514442
种属内
SIL1 Q9H173 UBQLN1 Homo sapiens Q9UMX0 25416956
种属内
SIL1 Q9H173 POC1A Homo sapiens Q8NBT0
TAP
31258504
种属内
SIL1 Q9H173 POC1A Homo sapiens Q8NBT0 28514442
种属内
SIL1 Q9H173 POC1A Homo sapiens Q8NBT0 33961781
种属内
SIL1 Q9H173 HSPA5 Homo sapiens P11021
TAP
31258504
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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