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

LMAN1 - lectin, mannose binding 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 3998 | Gene type: protein coding

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
Protein Preferred Names Protein Names

protein ERGIC-53

ER-Golgi intermediate compartment 53 kDa protein

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS07703 LMAN1 Human Pre-designed siRNA Set A Pre-designed Sets / 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