Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Lman1. (This text reflects annotations as of Tuesday, May 21, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type I integral membrane protein localized in the intermediate region between the endoplasmic reticulum and the Golgi, presumably recycling between the two compartments. The protein is a mannose-specific lectin and is a member of a novel family of plant lectin homologs in the secretory pathway of animal cells. Mutations in the gene are associated with a coagulation defect. Using positional cloning, the gene was identified as the disease gene leading to combined factor V-factor VIII deficiency, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Lman1
  • is located in the following cellular components:
    • endoplasmic reticulum-Golgi intermediate compartment ^{[1, 4, 5]}
    • Golgi apparatus ^{[2, 3]}
    • sarcomere ^[5]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Lman1
  • participates in the following biological processes:
    • endoplasmic reticulum organization ^[6]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Lman1:
  • participates in the following biological processes:
    • Golgi organization
    • positive regulation of organelle organization
  • performs the following molecular functions:
    • identical protein binding
  • is located in the following cellular components:
    • endoplasmic reticulum
    • endoplasmic reticulum-Golgi intermediate compartment
    • Golgi apparatus
    • integral to membrane
    • intracellular membrane-bounded organelle

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Summary text based on GO annotations supported by structural data

• Lman1 encodes a protein or proteins that contain the following InterPro domains: Concanavalin A-like lectin/glucanase, subgroup, Concanavalin A-like lectin/glucanases superfamily, Legume-like lectin, indicating that the gene product:
  • is located in the following cellular components:
    • membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Lman1 indicates that it:
  • participates in the following biological processes:
    • protein transport
    • transport
    • vesicle-mediated transport
  • performs the following molecular functions:
    • metal ion binding
  • is located in the following cellular components:
    • membrane

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References

1. Esselens C et al. (2004) Presenilin 1 mediates the turnover of telencephalin in hippocampal neurons via an autophagic degradative pathway. J Cell Biol, 166:1041-54. (PubMed:15452145)
2. Garver WS et al. (2000) Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments. J Lipid Res, 41:673-87. (PubMed:10787428)
3. Nakajima K et al. (2002) Molecular motor KIF1C is not essential for mouse survival and motor-dependent retrograde Golgi apparatus-to-endoplasmic reticulum transport. Mol Cell Biol, 22:866-73. (PubMed:11784862)
4. Nichols RJ et al. (2004) Characterization of three paralogous members of the Mammalian vaccinia related kinase family. J Biol Chem, 279:7934-46. (PubMed:14645249)
5. Nori A et al. (2004) Vesicle budding from endoplasmic reticulum is involved in calsequestrin routing to sarcoplasmic reticulum of skeletal muscles. Biochem J, 379:505-12. (PubMed:14728599)
6. Zhang B et al. (2011) Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of {alpha}1-antitrypsin. Blood, 118:3384-91. (PubMed:21795745)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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