U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase [ Homo sapiens (human) ]

    Gene ID: 56052, updated on 3-Dec-2024

    Summary

    Official Symbol
    ALG1provided by HGNC
    Official Full Name
    ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:18294
    See related
    Ensembl:ENSG00000033011 MIM:605907; AllianceGenome:HGNC:18294
    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
    HMT1; MT-1; CDG1K; HMAT1; HMT-1; Mat-1; hMat-1
    Summary
    The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]
    Expression
    Ubiquitous expression in testis (RPKM 6.0), colon (RPKM 5.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ALG1 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (5071843..5087379)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (5101343..5116882)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (5121844..5137380)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11332 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:5078448-5079647 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:5083173-5083674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10347 Neighboring gene NAGPA antisense RNA 1 Neighboring gene N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase Neighboring gene chromosome 16 open reading frame 89 Neighboring gene Sharpr-MPRA regulatory region 9075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:5132135-5132636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:5132637-5133136 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:5134229-5135141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:5139758-5140258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:5140259-5140759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:5145374-5145926 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:5147415-5148040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7174 Neighboring gene eukaryotic elongation factor 2 lysine methyltransferase Neighboring gene uncharacterized LOC107984828 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:5173257-5173758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:5173759-5174258 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:5184682-5185456 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:5185457-5186232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10351 Neighboring gene MPRA-validated peak2477 silencer Neighboring gene uncharacterized LOC105371067 Neighboring gene VPS51 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    chitobiosyldiphosphodolichol beta-mannosyltransferase
    Names
    GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase
    GDP-mannose-dolichol diphosphochitobiose mannosyltransferase
    asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)
    asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog
    asparagine-linked glycosylation protein 1 homolog
    beta-1,4-mannosyltransferase
    mannosyltransferase-1
    mutant ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
    NP_001317433.1
    NP_061982.3
    XP_016878946.1
    XP_054169468.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009202.1 RefSeqGene

      Range
      5035..20571
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330504.2NP_001317433.1  chitobiosyldiphosphodolichol beta-mannosyltransferase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' terminal exon, resulting in a distinct 5' UTR and 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)
      AA810665, AC026458, AK298144, BX370817
      Consensus CDS
      CCDS81946.1
      UniProtKB/TrEMBL
      A0A804HJQ1
      Related
      ENSP00000440019.1, ENST00000544428.1
    2. NM_019109.5NP_061982.3  chitobiosyldiphosphodolichol beta-mannosyltransferase isoform 1

      See identical proteins and their annotated locations for NP_061982.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC026458
      Consensus CDS
      CCDS10528.1
      UniProtKB/Swiss-Prot
      B4DP08, Q6UVZ9, Q8N5Y4, Q9BT22, Q9P2Y2
      UniProtKB/TrEMBL
      A0A804HKX7
      Related
      ENSP00000262374.5, ENST00000262374.10
      Conserved Domains (2) summary
      cd03816
      Location:30461
      GT1_ALG1_like; This family is most closely related to the GT1 family of glycosyltransferases. The yeast gene ALG1 has been shown to function as a mannosyltransferase that catalyzes the formation of dolichol pyrophosphate (Dol-PP)-GlcNAc2Man from GDP-Man and ...
      PLN02275
      Location:27424
      PLN02275; transferase, transferring glycosyl groups

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      5071843..5087379
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023457.3XP_016878946.1  chitobiosyldiphosphodolichol beta-mannosyltransferase isoform X1

      UniProtKB/TrEMBL
      A0A804HJL6, A0A804HKX7
      Related
      ENSP00000507554.1, ENST00000684190.1

    RNA

    1. XR_007064892.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      5101343..5116882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313493.1XP_054169468.1  chitobiosyldiphosphodolichol beta-mannosyltransferase isoform X1

      UniProtKB/TrEMBL
      A0A804HJL6, A0A804HKX7

    RNA

    1. XR_008484708.1 RNA Sequence