RBCC Red Blood Cell Collection

LMAN1_HUMAN

Source: BSc_CH
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: LMAN1 , ERGIC53, F5F8D
Protein names and data: LMAN1_HUMAN , Protein ERGIC-53 , ER-Golgi intermediate compartment 53 kDa protein; Gp58; Intracellular mannose-specific lectin MR60; Lectin mannose-binding 1; Flags: Precursor Lenght: 510 a.a.
Mass: 57549 Da
fasta formatted sequence
Function: Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins.
Disease: ( OMIM: 227300 601567 ) Factor V and factor VIII combined deficiency 1 (F5F8D1) [MIM:227300]: A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein.
Tissue specificity: Ubiquitous.

Genetic variants

14 - 14 R -> Q (in dbSNP:rs1043302). VAR_013703 1043302
39 - 39 V -> A (in dbSNP:rs33926449). VAR_013704 33926449
355 - 355 I -> T (in dbSNP:rs3737392). VAR_049770 3737392
410 - 410 M -> L (in dbSNP:rs2298711). VAR_013705 2298711

Database cross-references

UniProt: P49257
Ensembl: ENST00000251047
MIM: 227300
MIM: 601567
neXtProt: NX_P49257
Antibodypedia: P49257 (may not find the protein thus also not any antibody)
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