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AADACL3 arylacetamide deacetylase like 3 [ Homo sapiens (human) ]

Gene ID: 126767, updated on 5-Mar-2024

Summary

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Official Symbol
AADACL3provided by HGNC
Official Full Name
arylacetamide deacetylase like 3provided by HGNC
Primary source
HGNC:HGNC:32037
See related
Ensembl:ENSG00000188984 AllianceGenome:HGNC:32037
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 hydrolase activity. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in placenta (RPKM 1.1), skin (RPKM 0.7) and 1 other tissue See more
Orthologs
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Genomic context

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Location:
1p36.21
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (12716110..12728760)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (12260261..12272876)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (12776113..12788727)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene arylacetamide deacetylase like 4 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 small nucleolar RNA U13 Neighboring gene cilia and flagella associated protein 107

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. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
  2. 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

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

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 3
NP_001096640.2

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.

mRNA and Protein(s)

  1. NM_001103170.3 → NP_001096640.2  arylacetamide deacetylase-like 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
    Source sequence(s)
    AC244670, AK127828, BG697255
    Consensus CDS
    CCDS41253.2
    UniProtKB/Swiss-Prot
    B3KXR9, Q5VUY0, Q5VUY1
    Related
    ENSP00000352268.6, ENST00000359318.8
    Conserved Domains (1) summary
    pfam07859
    Location:115 → 378
    Abhydrolase_3; alpha/beta hydrolase fold

RNA

  1. NR_111984.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC244670, AK127828, BG697255
    Related
    ENST00000620146.2

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    12716110..12728760
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    12260261..12272876
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001103169.1: Suppressed sequence

    Description
    NM_001103169.1: This RefSeq was permanently suppressed because currently there is insufficient support for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VUY0.5 GenPept UniProtKB/Swiss-Prot:Q5VUY0

Gene LinkOut

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