1. Gene
  2. LMAN1 - lectin, mannose binding 1 Gene

LMAN1 - lectin, mannose binding 1 Gene

中文名称:凝集素,甘露糖结合 1

种属: Homo sapiens

同用名: MR60; gp58; F5F8D; FMFD1; MCFD1; ERGIC53; ERGIC-53

基因 ID: 3998 | 基因类型: protein coding

关于 LMAN1

Cytogenetic location: 18q21.32 Genomic coordinates (GRCh38): 18:59,327,823-59,359,265 (from NCBI)

This gene has 5 transcripts (splice variants), 208 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 65.5), liver (RPKM 54.8) and 25 other tissues.

功能概要

由该基因编码的蛋白质是一种膜甘露糖特异性凝集素,在内质网、内质网-高尔基体中间室和顺式高尔基体之间循环,作为糖蛋白转运的货物受体。该蛋白质具有一个 N 端信号序列、一个钙依赖性和 pH 敏感的碳水化合物识别结构域、一个在寡聚化中起作用的茎区、一个跨膜结构域和一个细胞器靶向所需的短细胞质结构域。该基因的等位基因变异与常染色体隐性遗传病合并因子 V-因子 VIII 缺乏症有关。[RefSeq 提供,2015 年 7 月]

The protein encoded by this gene is a membrane mannose-specific lectin that cycles between the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, and cis-Golgi, functioning as a cargo receptor for glycoprotein transport. The protein has an N-terminal signal sequence, a calcium-dependent and pH-sensitive carbohydrate recognition domain, a stalk region that functions in oligomerization, a transmembrane domain, and a short cytoplasmic domain required for organelle targeting. Allelic variants of this gene are associated with the autosomal recessive disorder combined factor V-factor VIII deficiency. [provided by RefSeq, Jul 2015]

LMAN1 基因产物(1)

mRNA Protein Name
NM_005570.4 NP_005561.1 protein ERGIC-53 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 metal ion binding EXP
EXP: 通过实验结果推断
24498414 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9774442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi organization IMP
IMP: 通过突变表型推断
18287528 GOA
NOT involved in early endosome to Golgi transport IMP
IMP: 通过突变表型推断
18287528 GOA
involved in positive regulation of organelle organization IMP
IMP: 通过突变表型推断
18287528 GOA
NOT involved in protein exit from endoplasmic reticulum IMP
IMP: 通过突变表型推断
18287528 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
19401338 GOA
located in endoplasmic reticulum-Golgi intermediate compartment IDA
IDA: 通过直接分析推断
15308636 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

protein ERGIC-53

ER-Golgi intermediate compartment 53 kDa protein

LMAN1 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
LMAN1 P49257 MCFD2 Homo sapiens Q8NI22 19787799
种属内
LMAN1 P49257 MCFD2 Homo sapiens Q8NI22 17971482
种属内
LMAN1 P49257 MCFD2 Homo sapiens Q8NI22 20142513
种属内
LMAN1 P49257 MCFD2 Homo sapiens Q8NI22 20142513
种属内
LMAN1 P49257 MCFD2 Homo sapiens Q8NI22
NMR
20142513
种属内
LMAN1 P49257 MCFD2 Homo sapiens Q8NI22
ITC
20142513
种属内
LMAN1 P49257 MCFD2 Homo sapiens Q8NI22
GMS
20142513
种属内
LMAN1 P49257 MCFD2 Homo sapiens Q8NI22 20142513
种属内
LMAN1 P49257 MCFD2 Homo sapiens Q8NI22 35271311
种属内
LMAN1 P49257 ERP44 Homo sapiens Q9BS26 17805346
种属间: 跨种属相互作用 种属内: 同种属相互作用

LMAN1 抗体

目录号 产品名 应用 反应物种
HY-P81682 LMAN1 Antibody (YA1427) WB, IHC-P, ICC/IF Human, Mouse, Rat

关联疾病

疾病名称 别名
Factor V And Factor Viii, Combined Deficiency Of, 1

F5F8D1

Familial Multiple Coagulation Factor Deficiency I

Fmfd1

Fmfd I

Multiple Coagulation Factor Deficiency I

Mcfd1

Combined Factor V And Viii Deficiency

Factor V And Factor Viii, Combined Deficiency Of, Type 1

Factor V And Factor Viii Combined Deficiency 1

Multiple Coagulation Factor Deficiency 1

Deficiency, Combined, Factor V And Factor Viii, Type 1

Factor V And Factor Viii, Combined Deficiency Of

Factor V And Factor Viii, Combined Deficiency Of, 2

Factor V And Factor Viii, Combined Deficiency Of

F5F8D2

Combined Deficiency Of Factor V And Factor Viii

F5f8d

Factor 5 And Factor Viii, Combined Deficiency Of, 2

Fv And Fviii Combined Deficiency

Factor V And Factor Viii Combined Deficiency 2

Mcfd2

Multiple Coagulation Factor Deficiency 2

Deficiency, Combined, Factor V And Factor Viii, Type 2

Factor Viii Deficiency

Autosomal Hemophilia A

Hemophilia A

Autosomal Factor Viii Deficiency

Classic Hemophilia A

Congenital Factor Viii Disorder

Subhemophilia

Factor 8 Deficiency, Congenital

Factor Viii

Brachydactyly, Type D

Brachydactyly Type D

BDD

Stub Thumb

Brachydactyly D

Factor V Deficiency

Parahemophilia

Labile Factor Deficiency

Proaccelerin Deficiency

Owren Disease

Owren Parahemophilia

Quebec Platelet Disorder

Deficiency, Labile

Hereditary Hypoproaccelerinaemia

Owren'S Disease

Congenital Factor V Deficiency

FA5D

Factor 5 Deficiency

Deficiency, Factor V

Hereditary Combined Deficiency Of Vitamin K-Dependent Clotting Factors

Hereditary Combined Deficiency Of Factors Ii, Vii, Ix And X

Vkcfd

Saul-Wilson Syndrome

Microcephalic Osteodysplastic Dysplasia

Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type

SWILS

Microcephalic Osteodysplastic Dysplasia Saul Wilson Type

Factor X Deficiency

Stuart-Prower Factor Deficiency

F10 Deficiency

Congenital Stuart Factor Deficiency

Factor X Deficiency, Congenital

Congenital Factor X Deficiency

Disease, Stuart-Prower

Stuart Factor Deficiency, Congenital

FA10D

Factor 10 Deficiency

Deficiency, Factor X

Hereditary Factor X Deficiency Disease

Deficiency Of Factor X

Stuart Deficiency Disease

Stuart Prower Deficiency

Stuart-Prower Disease

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation

CDG1N

Congenital Disorders Of Glycosylation

Cdg In

Cdgin

Congenital Disorder Of Glycosylation 1n

Carbohydrate-Deficient Glycoprotein Syndrome

Cdg

Rft1-Cdg

Cdg-In

Congenital Disorder Of Glycosylation Type In

Carbohydrate Deficient Glycoprotein Syndrome

Cdg Syndrome

Congenital Disorder Of Glycosylation In

Carbohydrate-Deficient Glycoprotein Syndromes

Cdg Syndrome Type In

Carbohydrate Deficient Glycoprotein Syndrome Type In

Congenital Disorder Of Glycosylation Type 1n

Man5glcnac2-Pp-Dol Flippase Deficiency

Glycosylation, Congenital Disorder Of

Glycosylation, Congenital Disorder Of, Type In

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
Macaca mulatta LMAN1 VGNC VGNC:74424
Bos taurus LMAN1 VGNC VGNC:30918
Mus musculus LMAN1 MGD MGI:1917611
Felis catus LMAN1 VGNC VGNC:68063
Canis familiaris LMAN1 VGNC VGNC:42706
Rattus norvegicus LMAN1 RGD RGD:71020