| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
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. SUBUNIT: Exists both as a covalent disulfide-linked homohexamer, and a complex of three disulfide-linked dimers non-covalently kept together. Interacts with MCFD2. SUBCELLULAR 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. DOMAIN: The FF ER export motif at the C-terminus is not sufficient to support endoplasmic reticulum exit, and needs assistance of Gln-501 for proper recognition of COPII coat components. PTM: The N-terminal may be partly blocked. MASS SPECTROMETRY: Mass=54222.91; Method=MALDI; Range=31-510; Source=PubMed:11840567; DISEASE: Defects in LMAN1 are THE cause of factor V and factor VIII combined deficiency type 1 (F5F8D1) [MIM:227300]; also known as multiple coagulation factor deficiency I (MCFD1). F5F8D1 is an autosomal recessive 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. SIMILARITY: Contains 1 L-type lectin-like domain. GENE SYNONYMS:LMAN1 ERGIC53 F5F8D. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 510 AA; 57549 MW; B87EF117C0CD386C CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:6631,
urn:biopax:RelationshipXref:NCBI GENE_3998,
urn:biopax:RelationshipXref:REFSEQ_NP_005561,
urn:biopax:UnificationXref:UNIPROT_P49257,
urn:biopax:UnificationXref:UNIPROT_Q12895,
urn:biopax:UnificationXref:UNIPROT_Q8N5I7,
urn:biopax:UnificationXref:UNIPROT_Q9UQG1,
urn:biopax:UnificationXref:UNIPROT_Q9UQG2,
urn:biopax:UnificationXref:UNIPROT_Q9UQG3,
urn:biopax:UnificationXref:UNIPROT_Q9UQG4,
urn:biopax:UnificationXref:UNIPROT_Q9UQG5,
urn:biopax:UnificationXref:UNIPROT_Q9UQG6,
urn:biopax:UnificationXref:UNIPROT_Q9UQG7,
urn:biopax:UnificationXref:UNIPROT_Q9UQG8,
urn:biopax:UnificationXref:UNIPROT_Q9UQG9,
urn:biopax:UnificationXref:UNIPROT_Q9UQH0,
urn:biopax:UnificationXref:UNIPROT_Q9UQH1,
urn:biopax:UnificationXref:UNIPROT_Q9UQH2
|
| biopax3:displayName |
LMAN1_HUMAN
|
| biopax3:name |
ER-Golgi intermediate compartment 53 kDa protein,
Gp58,
Intracellular mannose-specific lectin MR60,
LMAN1,
Lectin mannose-binding 1
|
| biopax3:organism | |
| biopax3:sequence |
MAGSRQRGLRARVRPLFCALLLSLGRFVRGDGVGGDPAVALPHRRFEYKYSFKGPHLVQSDGTVPFWAHAGNAIPSSDQIRVAPSLKSQRGSVWTKTKAAFENWEVEVTFRVTGRGRIGADGLAIWYAENQGLEGPVFGSADLWNGVGIFFDSFDNDGKKNNPAIVIIGNNGQIHYDHQNDGASQALASCQRDFRNKPYPVRAKITYYQNTLTVMINNGFTPDKNDYEFCAKVENMIIPAQGHFGISAATGGLADDHDVLSFLTFQLTEPGKEPPTPDKEISEKEKEKYQEEFEHFQQELDKKKEEFQKGHPDLQGQPAEEIFESVGDRELRQVFEGQNRIHLEIKQLNRQLDMILDEQRRYVSSLTEEISKRGAGMPGQHGQITQQELDTVVKTQHEILRQVNEMKNSMSETVRLVSGMQHPGSAGGVYETTQHFIDIKEHLHIVKRDIDNLVQRNMPSNEKPKCPELPPFPSCLSTVHFIIFVVVQTVLFIGYIMYRSQQEAAAKKFF
|
| biopax3:standardName |
Protein ERGIC-53
|