Official symbol | LMAN1 |
Gene id | 3998 |
Organism | Homo sapiens |
Official full symbol | lectin, mannose binding 1 |
Gene type | protein-coding |
Also known as | ERGIC-53, ERGIC53, F5F8D, FMFD1, MCFD1, MR60, gp58 |
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. |
Genomic regions | Chromosome 18 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
LMAN1-201 | ENST00000251047.6 | 4824 | 510aa | Protein coding | CCDS11974 | A0A024R2A7 P49257 | NM_005570.4 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
LMAN1-204 | ENST00000587940.1 | 442 | No protein | Processed transcript | - | - | - | TSL:2, |
LMAN1-202 | ENST00000587561.1 | 1181 | No protein | Retained intron | - | - | - | TSL:2, |
LMAN1-203 | ENST00000587918.1 | 678 | No protein | Retained intron | - | - | - | TSL:2, |
LMAN1-205 | ENST00000592562.1 | 576 | No protein | Retained intron | - | - | - | TSL:2, |
Target Gene | LMAN1 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene LMAN1 had been KO in hek293t cell line. |
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