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. The protein is a mannose-specific lectin and is a member of a novel family of plant lectin homologs in the secretory pathway of animal cells. Mutations in the gene are associated with a coagulation defect. Using positional cloning, the gene was identified as the disease gene leading to combined deficiency of factor V-factor VIII, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished. MCFD2 is the second gene that leads to combined deficiency of factor V-factor VIII. ERGIC-53 and MCFD2 form a protein complex and serve as a cargo receptor to transport FV and FVIII from the ER to the ERGIC and then the Golgi, as illustrated here.
Background References
1. Fu YL. et. al. LMAN1 (ERGIC-53) promotes trafficking of neuroreceptors. Biochem Biophys Res Commun. 2019 Apr
2. Zhu M. et. al. Analysis of MCFD2- and LMAN1-deficient mice demonstrates distinct functions in vivo. Blood Adv. 2018 May
Western blot analysis of LMAN1 on different lysates with Rabbit anti-LMAN1 antibody (ET7110-98) at 1/2,000 dilution.
Lane 1: HeLa (Human cervical adenocarcinoma cell) cell lysate Lane 2: HEK-293 (Human embryonic kidney cell) cell lysate Lane 3: A549 (Human lung adenocarcinoma cell) cell lysate Lane 4: NIH/3T3 (Mouse fibroblast) cell lysate
Lysates/proteins at 15 µg/Lane. Exposure time: 154 seconds; ECL: K1801
Blocking: 5% NFDM/TBST, 1 hour at room temperature Primary antibody: ET7110-98, 1/2,000 in primary antibody dilution buffer (K1803), overnight at 4 ℃ Secondary antibody: Goat anti-Rabbit IgG-HRP (HA1001), 1/50,000 in 5% NFDM/TBST, 1 hour at room temperature
Predicted band size: 58 kDa Observed band size: 58 kDa
☑ Knockdown (KD)
Western blot analysis of LMAN1 on different lysates with Rabbit anti-LMAN1 antibody (ET7110-98) at 1/1,000 dilution.
Lane 1: HAP1-parental cell lysate Lane 2: HAP1-LMAN1 KD cell lysate
Lysates/proteins at 10 µg/Lane.
Predicted band size: 58 kDa Observed band size: 55 kDa
Exposure time: 60 seconds; ECL: K1802;
4-20% SDS-PAGE gel.
Proteins were transferred to a PVDF membrane and blocked with 5% NFDM/TBST for 1 hour at room temperature. The primary antibody (ET7110-98) at 1/1,000 dilution was used in K1803 at 4℃ overnight. Goat Anti-Rabbit IgG - HRP Secondary Antibody (HA1001) at 1/50,000 dilution was used for 1 hour at room temperature.
Immunohistochemical analysis of paraffin-embedded rat brain tissue with Rabbit anti-LMAN1 antibody (ET7110-98) at 1/50 dilution.
The section was pre-treated using heat mediated antigen retrieval with Tris-EDTA buffer (pH 6.0)) for 20 minutes. The tissues were blocked in 1% BSA for 20 minutes at room temperature, washed with ddH2O and PBS, and then probed with the primary antibody (ET7110-98) at 1/50 dilution for 0.5 hour at room temperature. The detection was performed using an HRP conjugated compact polymer system. DAB was used as the chromogen. Tissues were counterstained with hematoxylin and mounted with DPX.
Immunohistochemical analysis of paraffin-embedded mouse kidney tissue with Rabbit anti-LMAN1 antibody (ET7110-98) at 1/50 dilution.
The section was pre-treated using heat mediated antigen retrieval with Tris-EDTA buffer (pH 6.0)) for 20 minutes. The tissues were blocked in 1% BSA for 20 minutes at room temperature, washed with ddH2O and PBS, and then probed with the primary antibody (ET7110-98) at 1/50 dilution for 0.5 hour at room temperature. The detection was performed using an HRP conjugated compact polymer system. DAB was used as the chromogen. Tissues were counterstained with hematoxylin and mounted with DPX.
Immunohistochemical analysis of paraffin-embedded mouse testis tissue with Rabbit anti-LMAN1 antibody (ET7110-98) at 1/50 dilution.
The section was pre-treated using heat mediated antigen retrieval with Tris-EDTA buffer (pH 6.0)) for 20 minutes. The tissues were blocked in 1% BSA for 20 minutes at room temperature, washed with ddH2O and PBS, and then probed with the primary antibody (ET7110-98) at 1/50 dilution for 0.5 hour at room temperature. The detection was performed using an HRP conjugated compact polymer system. DAB was used as the chromogen. Tissues were counterstained with hematoxylin and mounted with DPX.
Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"