LMAN1 (lectin, mannose binding 1)

2008-07-01  

Identity

HGNC
LMAN1
LOCATION
18q21.32
LOCUSID
3998
ALIAS
ERGIC-53,ERGIC53,F5F8D,FMFD1,MCFD1,MR60,gp58
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3998
MIM: 601567
HGNC: 6631
Ensembl: ENSG00000074695

Variants:

dbSNP: 3998
ClinVar: 3998
TCGA: ENSG00000074695
COSMIC: LMAN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000074695ENST00000251047P49257
ENSG00000074695ENST00000251047A0A024R2A7

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Cargo concentration in the ERREACTOMER-HSA-5694530

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
127174342003Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.69
156321102005Live imaging of bidirectional traffic from the ERGIC.58
166707742006Mannan-binding lectin activates C3 and the alternative complement pathway without involvement of C2.56
145935992003Association of mannose-binding lectin polymorphisms with sepsis and fatal outcome, in patients with systemic inflammatory response syndrome.54
158862092005LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway.46
180250802008Molecular basis of sugar recognition by the human L-type lectins ERGIC-53, VIPL, and VIP36.40
189748422008Gender differences in genetic risk profiles for cardiovascular disease.33
151459322004Nucleic acid is a novel ligand for innate, immune pattern recognition collectins surfactant proteins A and D and mannose-binding lectin.32
160548852005Reticulon 3 is involved in membrane trafficking between the endoplasmic reticulum and Golgi.27

Citation

Dessen P

LMAN1 (lectin, mannose binding 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50158/lman1