U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    ALG1L2 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2 [ Homo sapiens (human) ]

    Gene ID: 644974, updated on 2-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    ALG1L2provided by HGNC
    Official Full Name
    ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2provided by HGNC
    Primary source
    HGNC:HGNC:37258
    See related
    Ensembl:ENSG00000251287 AllianceGenome:HGNC:37258
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable mannosyltransferase activity. Predicted to be involved in protein glycosylation. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Nov 2024]
    Annotation information
    Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See ALG1L2 in Genome Data Viewer
    Location:
    3q22.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (130081831..130098390)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (132825683..132842233)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (129800674..129817233)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 7 subfamily E member 21 pseudogene Neighboring gene EVA1C pseudogene 6 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:129775360-129776355 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:129776356-129777350 Neighboring gene long intergenic non-protein coding RNA 2014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20519 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:129815614-129816445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:129818109-129818938 Neighboring gene family with sequence similarity 86, member A pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14732 Neighboring gene uncharacterized LOC124909432 Neighboring gene long intergenic non-protein coding RNA 2021 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:129857063-129857830 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:129871903-129872656 Neighboring gene uncharacterized LOC107986131

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    GeneRIFs: Gene References Into Functions

    Phenotypes

    Go to the top of the page Help

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mannosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    putative glycosyltransferase ALG1L2
    Names
    asparagine-linked glycosylation 1-like 2

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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.

    mRNA and Protein(s)

    1. NM_001136152.1 → NP_001129624.1  putative glycosyltransferase ALG1L2

      See identical proteins and their annotated locations for NP_001129624.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1, coding) represents the allele encoded by the GRCh38 reference genome and encodes isoform (1).
      Source sequence(s)
      BC127756, BI833803
      UniProtKB/Swiss-Prot
      C9J202
      UniProtKB/TrEMBL
      A0A8V8TLI2
      Related
      ENSP00000479850.1, ENST00000425059.1
      Conserved Domains (1) summary
      cl10013
      Location:8 → 206
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...

    RNA

    1. NR_178038.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1, non-coding) uses the same exon combination as variant (1, coding) but represents the allele present on the T2T-CHM13v2.0 genome assembly. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      CP068275

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      130081831..130098390
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      132825683..132842233
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    C9J202.1 GenPept UniProtKB/Swiss-Prot:C9J202

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials