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LMAN1 - lectin, mannose binding 1 Gene

Also Known as MR60; gp58; F5F8D; FMFD1; MCFD1; ERGIC53; ERGIC-53

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3998

About 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.

Summary

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 Products (1)

mRNA	Protein	Name
NM_005570.4	NP_005561.1	protein ERGIC-53 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables metal ion binding	EXP EXP: Inferred from Experiment	24498414	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9774442	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Golgi organization	IMP IMP: Inferred from mutant phenotype	18287528	GOA
NOT involved in early endosome to Golgi transport	IMP IMP: Inferred from mutant phenotype	18287528	GOA
involved in positive regulation of organelle organization	IMP IMP: Inferred from mutant phenotype	18287528	GOA
NOT involved in protein exit from endoplasmic reticulum	IMP IMP: Inferred from mutant phenotype	18287528	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	19401338	GOA
located in endoplasmic reticulum-Golgi intermediate compartment	IDA IDA: Inferred from direct assay	15308636	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
protein ERGIC-53	ER-Golgi intermediate compartment 53 kDa protein

LMAN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	LMAN1	P49257	MCFD2	Homo sapiens	Q8NI22	Anti Bait CoIP	19787799
Intra	LMAN1	P49257	MCFD2	Homo sapiens	Q8NI22	Anti Bait CoIP	17971482
Intra	LMAN1	P49257	MCFD2	Homo sapiens	Q8NI22	Solution Sedimentation	20142513
Intra	LMAN1	P49257	MCFD2	Homo sapiens	Q8NI22	SLCA	20142513
Intra	LMAN1	P49257	MCFD2	Homo sapiens	Q8NI22	NMR	20142513
Intra	LMAN1	P49257	MCFD2	Homo sapiens	Q8NI22	ITC	20142513
Intra	LMAN1	P49257	MCFD2	Homo sapiens	Q8NI22	GMS	20142513
Intra	LMAN1	P49257	MCFD2	Homo sapiens	Q8NI22	X-Ray Diffraction	20142513
Intra	LMAN1	P49257	MCFD2	Homo sapiens	Q8NI22	Anti Tag CoIP	35271311
Intra	LMAN1	P49257	ERP44	Homo sapiens	Q9BS26	Anti Tag CoIP	17805346

Cross: Cross-species interaction Intra: Intraspecies interaction

LMAN1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81682	LMAN1 Antibody (YA1427)	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07703	LMAN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22612	Lman1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29127	Lman1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	LMAN1	NCBI