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    GADL1 glutamate decarboxylase like 1 [ Homo sapiens (human) ]

    Gene ID: 339896, updated on 17-Sep-2024

    Summary

    Official Symbol
    GADL1provided by HGNC
    Official Full Name
    glutamate decarboxylase like 1provided by HGNC
    Primary source
    HGNC:HGNC:27949
    See related
    Ensembl:ENSG00000144644 MIM:615601; AllianceGenome:HGNC:27949
    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
    Also known as
    ADC; CSADC; HuADC; HuCSADC
    Summary
    Predicted to enable aspartate 1-decarboxylase activity; pyridoxal phosphate binding activity; and sulfinoalanine decarboxylase activity. Predicted to be involved in carboxylic acid metabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See GADL1 in Genome Data Viewer
    Location:
    3p24.1-p23
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (30726197..30894661, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (30728666..30897141, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (30767689..30936153, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene translation initiation factor IF-2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14158 Neighboring gene transforming growth factor beta receptor 2 Neighboring gene KLHL25 pseudogene 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69439 Neighboring gene formin binding protein 1 pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr3:30949959-30950520 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:31037859-31038360 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:31068205-31068399 Neighboring gene MPRA-validated peak4584 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr3:31137307-31137898 Neighboring gene NANOG hESC enhancer GRCh37_chr3:31167054-31167555 Neighboring gene NANOG hESC enhancer GRCh37_chr3:31183687-31184252 Neighboring gene microRNA 466 Neighboring gene calponin 2 pseudogene 6

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC138191

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aspartate 1-decarboxylase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables carboxy-lyase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables sulfinoalanine decarboxylase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in carboxylic acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    acidic amino acid decarboxylase GADL1
    Names
    aspartate 1-decarboxylase
    cysteine sulfinic acid decarboxylase
    glutamate decarboxylase-like protein 1
    NP_997242.2
    XP_016861786.1
    XP_047304027.1
    XP_054202397.1
    XP_054202398.1

    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.

    mRNA and Protein(s)

    1. NM_207359.3NP_997242.2  acidic amino acid decarboxylase GADL1

      See identical proteins and their annotated locations for NP_997242.2

      Status: VALIDATED

      Source sequence(s)
      AC096921, AC138391, AK128643, AL832766, BC093701
      Consensus CDS
      CCDS2649.2
      UniProtKB/Swiss-Prot
      Q6ZQY3
      Related
      ENSP00000282538.5, ENST00000282538.10
      Conserved Domains (1) summary
      cl18945
      Location:77445
      AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

    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
      30726197..30894661 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006297.2XP_016861786.1  acidic amino acid decarboxylase GADL1 isoform X1

    2. XM_047448071.1XP_047304027.1  acidic amino acid decarboxylase GADL1 isoform X2

      Related
      ENSP00000427059.1, ENST00000454381.3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      30728666..30897141 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346422.1XP_054202397.1  acidic amino acid decarboxylase GADL1 isoform X1

    2. XM_054346423.1XP_054202398.1  acidic amino acid decarboxylase GADL1 isoform X2