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    AADACL4 arylacetamide deacetylase like 4 [ Homo sapiens (human) ]

    Gene ID: 343066, updated on 27-Nov-2024

    Summary

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    Official Symbol
    AADACL4provided by HGNC
    Official Full Name
    arylacetamide deacetylase like 4provided by HGNC
    Primary source
    HGNC:HGNC:32038
    See related
    Ensembl:ENSG00000204518 AllianceGenome:HGNC:32038
    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 carboxylic ester hydrolase activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See AADACL4 in Genome Data Viewer
    Location:
    1p36.21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (12644085..12667076)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (12188232..12211227)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (12704104..12727087)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U6atac small nuclear 18, pseudogene Neighboring gene Sharpr-MPRA regulatory region 5682 Neighboring gene dehydrogenase/reductase 3 Neighboring gene microRNA 6730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:12652795-12653294 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:12663043-12663228 Neighboring gene Sharpr-MPRA regulatory region 11784 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:12677840-12678472 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12678473-12679104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12679105-12679736 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:12679972-12680223 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:12736484-12736819 Neighboring gene uncharacterized LOC124903846 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:12763477-12764676 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:12775588-12776787 Neighboring gene arylacetamide deacetylase like 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. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article
    2. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carboxylic ester hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    arylacetamide deacetylase-like 4

    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_001013630.2 → NP_001013652.1  arylacetamide deacetylase-like 4

      See identical proteins and their annotated locations for NP_001013652.1

      Status: VALIDATED

      Source sequence(s)
      AC254633
      Consensus CDS
      CCDS30590.1
      UniProtKB/Swiss-Prot
      Q5VUY2
      Related
      ENSP00000365395.1, ENST00000376221.2
      Conserved Domains (2) summary
      COG0657
      Location:85 → 378
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      cl21494
      Location:115 → 378
      Abhydrolase; alpha/beta hydrolases

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      12644085..12667076
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001153.1 → XP_016856642.1  arylacetamide deacetylase-like 4 isoform X1

      Conserved Domains (2) summary
      COG0657
      Location:3 → 212
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      cl21494
      Location:14 → 212
      Abhydrolase; alpha/beta hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      12188232..12211227
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336311.1 → XP_054192286.1  arylacetamide deacetylase-like 4 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VUY2.1 GenPept UniProtKB/Swiss-Prot:Q5VUY2

    Gene LinkOut

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

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