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    ALG11 ALG11 alpha-1,2-mannosyltransferase [ Homo sapiens (human) ]

    Gene ID: 440138, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ALG11provided by HGNC
    Official Full Name
    ALG11 alpha-1,2-mannosyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:32456
    See related
    Ensembl:ENSG00000253710 MIM:613666; AllianceGenome:HGNC:32456
    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
    GT8; CDG1P
    Summary
    This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 12.1), kidney (RPKM 8.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    13q14.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (52012398..52033600)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (51227214..51248416)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (52586534..52607736)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 272 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:52501865-52503064 Neighboring gene CTAGE family member 3, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7784 Neighboring gene ATPase copper transporting beta Neighboring gene fatty acid binding protein 5 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 15635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7786 Neighboring gene UTP14C small subunit processome component Neighboring gene NIMA related kinase 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:52653033-52653791 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:52653792-52654549 Neighboring gene Sharpr-MPRA regulatory region 10224 Neighboring gene Sharpr-MPRA regulatory region 2352 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:52696487-52696693 Neighboring gene uncharacterized LOC101929657 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:52706487-52707686 Neighboring gene uncharacterized LOC124903176 Neighboring gene NIMA related kinase 3

    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
    • 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. Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. Thiel C, et al. Hum Mutat, 2012 Mar. PMID 22213132
    2. A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. Rind N, et al. Hum Mol Genet, 2010 Apr 15. PMID 20080937
    3. Cloning and transcriptional expression of mouse mannosyltransferase IV/V cDNA, which is involved in the synthesis of lipid-linked oligosaccharides. Nishimura Y, et al. Biosci Biotechnol Biochem, 2014. PMID 25036826
    4. UTP14c is a recently acquired retrogene associated with spermatogenesis and fertility in man. Rohozinski J, et al. Biol Reprod, 2006 Apr. PMID 16354793
    5. Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview. Adam MP, et al. , 1993. PMID 20301507

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hence, we concluded that there is different transcriptional control mechanism between mALG11 and hALG11
      Title: Cloning and transcriptional expression of mouse mannosyltransferase IV/V cDNA, which is involved in the synthesis of lipid-linked oligosaccharides.
    2. After identifying the congenital disorders of glycosylation-Ip index patient, study describe three more cases suffering from an ALG11 deficiency.
      Title: Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
    3. Deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation.
      Title: A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.
    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

    • KIAA0266

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alpha-1,2-mannosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in oligosaccharide-lipid intermediate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein N-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
    Names
    GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
    asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog
    asparagine-linked glycosylation protein 11 homolog
    glycolipid 2-alpha-mannosyltransferase
    NP_001004127.2

    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.

    Genomic

    1. NG_028038.2 RefSeqGene

      Range
      5002..26204
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001004127.3 → NP_001004127.2  GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase

      See identical proteins and their annotated locations for NP_001004127.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) represents the longer transcript and encodes the functional protein.
      Source sequence(s)
      AK025456, AL139082, BC142998
      Consensus CDS
      CCDS31977.1
      UniProtKB/Swiss-Prot
      A5PLP3, B4DKW9, Q2TAA5, Q5TAN9, Q6DKI6, Q96FI7
      UniProtKB/TrEMBL
      A0A3B3IS90
      Related
      ENSP00000430236.1, ENST00000521508.2
      Conserved Domains (1) summary
      cd03806
      Location:63 → 480
      GT1_ALG11_like; This family is most closely related to the GT1 family of glycosyltransferases. ALG11 in yeast is involved in adding the final 1,2-linked Man to the Man5GlcNAc2-PP-Dol synthesized on the cytosolic face of the ER. The deletion analysis of ALG11 was shown ...

    RNA

    1. NR_036571.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B) lacks two alternate internal exons, compared to variant A. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant A.
      Source sequence(s)
      AL139082

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      52012398..52033600
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      51227214..51248416
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2TAA5.2 GenPept UniProtKB/Swiss-Prot:Q2TAA5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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