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Gene : LMAN1 Homo sapiens

Name  ? lectin, mannose binding 1 Cytological Location  18q21.32
Brief Description  lectin, mannose binding 1
description  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. [provided by RefSeq, Jul 2015]
  • synonyms:
  • NM_005570,
  • MR60,
  • MR60,
  • LMAN1,
  • ERGIC-53,
  • FMFD1,
  • F5F8D,
  • ERGIC53,
  • gp58,
  • lectin, mannose-binding, 1,
  • MCFD1,
  • OTTHUMG00000132758,
  • MCFD1,
  • ERGIC53,
  • ERGIC-53,
  • endoplasmic reticulum-golgi intermediate compartment protein 53,
  • X71661,
  • HGNC:6631,
  • gp58,
  • FMFD1,
  • uc002lhz.4,
  • F5F8D,
  • coagulation factor V-factor VIII combined deficiency
  • identifiers:
  • 3998,
  • ENSG00000074695,
  • LMAN1

Genome feature

Region: gene ? Length: 31454  
Location: 18:59327823-59359276 reverse strand Cyto location: 18q21.32


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Disease

1 Diseases

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Expression

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Other

953 SN Ps

5 Cross References

19 Data Sets

11 Homologues

2 Located Features

90 Rna Seq Results