2. Gene
  3. ERLEC1 - endoplasmic reticulum lectin 1 Gene

ERLEC1 - endoplasmic reticulum lectin 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：内质网凝集素 1

种属: Homo sapiens

同用名: CIM; HEL117; XTP3-B; C2orf30; CL24936; CL25084; XTP3TPB

基因 ID: 27248 | 基因类型: protein coding

关于 ERLEC1

Cytogenetic location: 2p16.2 Genomic coordinates (GRCh38): 2:53,787,044-53,818,796 (from NCBI)

This gene has 43 transcripts (splice variants), 207 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 36.0), prostate (RPKM 29.5) and 25 other tissues.

功能概要

该基因编码常驻内质网 (ER) 蛋白，该蛋白在 N-聚糖识别中发挥作用。这种蛋白质被认为通过与膜相关泛素连接酶复合物的相互作用参与 ER 相关降解。它还以促进转移细胞存活的方式充当多种细胞应激反应途径的调节剂。可变剪接导致多个转录本变体。已在 21 号染色体上鉴定出一个相关的假基因。[RefSeq 提供，2011 年 8 月]

This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin Ligase complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011]

ERLEC1 基因产物(3)

mRNA Protein Name
NM_001127397.3 NP_001120869.1 endoplasmic reticulum lectin 1 isoform 2 precursor
NM_001127398.3 NP_001120870.1 endoplasmic reticulum lectin 1 isoform 3 precursor
NM_015701.5 NP_056516.2 endoplasmic reticulum lectin 1 isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IDA
IDA: 通过直接分析推断
16531414 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16531414 GOA
enables unfolded protein binding IDA
IDA: 通过直接分析推断
21062743 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ERAD pathway IDA
IDA: 通过直接分析推断
18502753 GOA
involved in negative regulation of retrograde protein transport, ER to cytosol IMP
IMP: 通过突变表型推断
25660456 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum lumen IDA
IDA: 通过直接分析推断
16531414 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

ERLEC1 蛋白结构

PRKCSH

PRKCSH: Glucosidase II beta subunit-like protein (111 - 199)

PRKCSH

PRKCSH: Glucosidase II beta subunit-like protein (342 - 421)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 483 a.a.
蛋白主名 其他名称

endoplasmic reticulum lectin 1

ER lectin

关联疾病

疾病名称 别名
Prognathism, Mandibular

Habsburg Jaw

'Habsburg Jaw'

'Hapsburg Jaw'

Prognathism Mandibular

Hapsburg Jaw

Autosomal Dominant Prognathism
Mitochondrial Dna Depletion Syndrome 13

MTDPS13

Fbxl4 Deficiency

Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome

Mitochondrial Dna Depletion Syndrome 13, Encephalomyopathic Type

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies

Mtdna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies

Fbxl4-Related Early-Onset Mitochondrial Encephalopathy

Mitochondrial Dna Depletion Syndrome 13 , Encephalomyopathic Type

Bxl4-Related Early-Onset Mitochondrial Encephalopathy

Encephalomyopathic Mitochondrial Dna Depletion Syndrome-13

Fbxl4-Related Early Onset Mitochondrial Encephalopathy

Mitochondrial Dna Depletion Syndrome, Type 13
Congenital Disorder Of Glycosylation, Type Iib

CDG2B

CDGIIB

Glucosidase I Deficiency

Congenital Disorder Of Glycosylation Type Iib

Cdg Iib

Mogs-Cdg

Cdg Syndrome Type Iib

Cdg-Iib

Carbohydrate Deficient Glycoprotein Syndrome Type Iib

Congenital Disorder Of Glycosylation Type 2b

Glucosidase 1 Deficiency

Type Iib Congenital Disorder Of Glycosylation

Glycosylation, Congenital Disorder Of, Type Iib
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies

Familial Encephalopathy With Neuroserpin Inclusion Bodies

FENIB

Encephalopathy, Familial, With Collins Bodies

Familial Dementia With Neuroserpin Inclusion Bodies

Familial Encephalopathy With Collins Bodies
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04500 ERLEC1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS16262 Erlec1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS16319 Erlec1 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus ERLEC1 RGD RGD:1306508
Mus musculus ERLEC1 MGD MGI:1914003
Bos taurus ERLEC1 VGNC VGNC:28587
Macaca mulatta ERLEC1 VGNC VGNC:72346
Felis catus ERLEC1 VGNC VGNC:61948
Canis familiaris ERLEC1 VGNC VGNC:40458
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