LMAN1L (lectin, mannose binding 1 like)

Gene

• Entrez ID: 79748
• Gene name: Lectin, mannose binding 1 like
• Gene symbol: LMAN1L
• Synonyms (NCBI Gene): ERGIC-53L, ERGL
• Chromosome: 15
• Chromosome location: 15q24.1
• Summary: This gene encodes a mannose-binding type 1 transmembrane protein that contains an N-terminal lectin-like carbohydrate recognition domain. The encoded protein is similar in structure to lectins found in leguminous plants. This lectin is thought to transpor

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0005537	Function	D-mannose binding	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IBA
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IEA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IBA
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	IBA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0031012	Component	Extracellular matrix	HDA	28675934
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IEA

Other IDs

• MIM: 609548
• HGNC: 6632
• e!Ensembl: ENSG00000140506

Protein

• UniProt ID: Q9HAT1
• Protein name: Protein ERGIC-53-like (ERGIC53-like protein) (Lectin mannose-binding 1-like) (LMAN1-like protein)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03388	Lectin_leg-like	31 → 254	Legume-like lectin family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in normal and neoplastic prostate. Also expressed in cardiac atrium, salivary gland, spleen and selective cells in the CNS. {ECO:0000269|PubMed:11255007}.
• Sequence:

  MPAVSGPGPLFCLLLLLLDPHSPETGCPPLRRFEYKLSFKGPRLALPGAGIPFWSHHGDA
  ILGLEEVRLTPSMRNRSGAVWSRASVPFSAWEVEVQMRVTGLGRRGAQGMAVWYTRGRGH
  VGSVLGGLASWDGIGIFFDSPAEDTQDSPAIRVLASDGHIPSEQPGDGASQGLGSCHWDF
  RNRPHPFRARITYWGQRLRMSLNSGLTPSDPGEFCVDVGPLLLVPGGFFGVSAATGTLAD
  DHDVLSFLTFSLSEPSPEVPPQPFLEMQQLRLARQLEGLWARLGLGTREDVTPKSDSEAQ
  GEGERLFDLEETLGRHRRILQALRGLSKQLAQAERQWKKQLGPPGQARPDGGWALDASCQ
  IPSTPGRGGHLSMSLNKDSAKVGALLHGQWTLLQALQEMRDAAVRMAAEAQVSYLPVGIE
  HHFLELDHILGLLQEELRGPAKAAAKAPRPPGQPPRASSCLQPGIFLFYLLIQTVGFFGY
  VHFRQELNKSLQECLSTGSLPLGPAPHTPRALGILRRQPLPASMPA

• Sequence length: 526

Pathways

KEGG:

Protein processing in endoplasmic reticulum

Reactome:

COPII-mediated vesicle transport
Cargo concentration in the ER

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	39867909	Associate	★☆☆☆☆ Found in Text Mining only