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    MLEC malectin [ Homo sapiens (human) ]

    Gene ID: 9761, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MLECprovided by HGNC
    Official Full Name
    malectinprovided by HGNC
    Primary source
    HGNC:HGNC:28973
    See related
    Ensembl:ENSG00000110917 MIM:613802; AllianceGenome:HGNC:28973
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KIAA0152
    Summary
    This gene encodes the carbohydrate-binding protein malectin which is a Type I membrane-anchored endoplasmic reticulum protein. This protein has an affinity for Glc2Man9GlcNAc2 (G2M9) N-glycans and is involved in regulating glycosylation in the endoplasmic reticulum. This protein has also been shown to interact with ribophorin I and may be involved in the directing the degradation of misfolded proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
    Expression
    Ubiquitous expression in colon (RPKM 16.3), thyroid (RPKM 15.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MLEC in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (120687149..120701859)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (120676305..120691013)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (121124952..121139662)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene CABP1 divergent transcript Neighboring gene NANOG hESC enhancer GRCh37_chr12:121076316-121076817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4957 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4959 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4960 Neighboring gene calcium binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121096155-121096656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121096657-121097156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121104512-121105033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121105034-121105554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7146 Neighboring gene uncharacterized LOC105370029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7149 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:121124755-121125256 Neighboring gene uncharacterized LOC124903035 Neighboring gene uncharacterized LOC124903036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:121148178-121149020 Neighboring gene unc-119 lipid binding chaperone B Neighboring gene microRNA 4700

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Role of malectin in Glc(2)Man(9)GlcNAc(2)-dependent quality control of α1-antitrypsin. Chen Y, et al. Mol Biol Cell, 2011 Oct. PMID 21813736, Free PMC Article
    2. Malectin gene polymorphisms promote cerebral palsy via M2-like macrophage polarization. Shi W, et al. Clin Genet, 2018 Apr. PMID 28972276
    3. Association of malectin with ribophorin I is crucial for attenuation of misfolded glycoprotein secretion. Takeda K, et al. Biochem Biophys Res Commun, 2014 Nov 21. PMID 25451265
    4. Malectin forms a complex with ribophorin I for enhanced association with misfolded glycoproteins. Qin SY, et al. J Biol Chem, 2012 Nov 2. PMID 22988243, Free PMC Article
    5. The heterodimeric structure of glucosidase II is required for its activity, solubility, and localization in vivo. Pelletier MF, et al. Glycobiology, 2000 Aug. PMID 10929008

    See all (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The results of in vitro studies suggest that C alleles of rs10431386 and rs7964786 on MLEC promotes cerebral palsy (CP) by inhibiting M1 to M2 macrophage polarization. Generally, this work suggested the contribution of MLEC gene polymorphisms to the pathogenesis of CP
      Title: Malectin gene polymorphisms promote cerebral palsy via M2-like macrophage polarization.
    2. These results clearly demonstrate that the association of malectin with ribophorin I is required to capture misfolded alpha1-antitrypsin and direct them to the degradation pathway.
      Title: Association of malectin with ribophorin I is crucial for attenuation of misfolded glycoprotein secretion.
    3. Data indicate that malectin functions by forming a complex with ribophorin I.
      Title: Malectin forms a complex with ribophorin I for enhanced association with misfolded glycoproteins.
    4. These observations suggest a possible role of malectin in regulating newly synthesized glycoproteins via G2M9 recognition.
      Title: Role of malectin in Glc(2)Man(9)GlcNAc(2)-dependent quality control of α1-antitrypsin.
    5. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: MicroRNAs and target site screening reveals a pre-microRNA-30e variant associated with schizophrenia.
    6. Malectin is a novel carbohydrate-binding protein of the endoplasmic reticulum and a candidate player in the early steps of protein N-glycosylation
      Title: Malectin: a novel carbohydrate-binding protein of the endoplasmic reticulum and a candidate player in the early steps of protein N-glycosylation.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0152

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbohydrate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein N-linked glycosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of oligosaccharyltransferase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    malectin
    Names
    oligosaccharyltransferase complex subunit (non-catalytic)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001303627.2 → NP_001290556.1  malectin isoform 2

      See identical proteins and their annotated locations for NP_001290556.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate exon in the 5' UTR and coding region which results in the use of a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AA831396, AC069234, BI458950
      Related
      ENSP00000438950.2, ENST00000545525.6
      Conserved Domains (1) summary
      pfam11721
      Location:9 → 125
      Malectin; Di-glucose binding within endoplasmic reticulum

    2. NM_001303628.2 → NP_001290557.1  malectin isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two consecutive exon in the central coding region which results in a frameshift compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus compare to isoform 1.
      Source sequence(s)
      AA831396, AC069234, BE326824, BG718506
      Consensus CDS
      CCDS76609.1
      UniProtKB/TrEMBL
      F5GX14
      Related
      ENSP00000440746.1, ENST00000412616.2
      Conserved Domains (1) summary
      pfam11721
      Location:48 → 135
      Malectin; Di-glucose binding within endoplasmic reticulum

    3. NM_014730.4 → NP_055545.1  malectin isoform1 precursor

      See identical proteins and their annotated locations for NP_055545.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA831396, AC069234, BC016297, BG718506
      Consensus CDS
      CCDS9206.1
      UniProtKB/Swiss-Prot
      Q14165
      Related
      ENSP00000228506.3, ENST00000228506.8
      Conserved Domains (1) summary
      pfam11721
      Location:48 → 208
      Malectin; Di-glucose binding within endoplasmic reticulum

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      120687149..120701859
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539032.2 → XP_011537334.1  malectin isoform X1

      See identical proteins and their annotated locations for XP_011537334.1

      Conserved Domains (1) summary
      pfam11721
      Location:9 → 125
      Malectin; Di-glucose binding within endoplasmic reticulum

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      120676305..120691013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373907.1 → XP_054229882.1  malectin isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14165.1 GenPept UniProtKB/Swiss-Prot:Q14165

    Gene LinkOut

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