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ABHD14A abhydrolase domain containing 14A [ Homo sapiens (human) ]

Gene ID: 25864, updated on 7-Sep-2023

Summary

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Official Symbol
ABHD14Aprovided by HGNC
Official Full Name
abhydrolase domain containing 14Aprovided by HGNC
Primary source
HGNC:HGNC:24538
See related
Ensembl:ENSG00000248487 MIM:618771; AllianceGenome:HGNC:24538
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
DORZ1
Summary
Predicted to enable hydrolase activity. Predicted to be integral component of membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 15.4), thyroid (RPKM 13.6) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See ABHD14A in Genome Data Viewer
Location:
3p21.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (51975064..51981196)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52007983..52014115)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52009080..52015212)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 62 Neighboring gene poly(rC) binding protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:51999749-52000312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52000313-52000874 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52002001-52002564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52002565-52003126 Neighboring gene abhydrolase domain containing 14B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52007254-52008190 Neighboring gene ABHD14A-ACY1 readthrough Neighboring gene Sharpr-MPRA regulatory region 207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52015181-52015682 Neighboring gene aminoacylase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52024676-52025348 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52025349-52026021 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52027370-52028102 Neighboring gene ribosomal protein L29

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. Dorz1, a novel gene expressed in differentiating cerebellar granule neurons, is down-regulated in Zic1-deficient mouse. Hoshino J, et al. Brain Res Mol Brain Res, 2003 Dec 12. PMID 14667578
  2. Systematic protein-protein interaction mapping for clinically relevant human GPCRs. Sokolina K, et al. Mol Syst Biol, 2017 Mar 15. PMID 28298427, Free PMC Article
  3. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Jan 31. PMID 36724073
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
  5. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification and characterization of Mouse Dorz1, along with sequence comparison to a similar protein in human.
    Title: Dorz1, a novel gene expressed in differentiating cerebellar granule neurons, is down-regulated in Zic1-deficient mouse.
Submit: New GeneRIF Correction

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough ABHD14A-ACY1

Readthrough gene: ABHD14A-ACY1, Included gene: ACY1

Homology

Clone Names

  • FLJ60317, FLJ60467, DKFZp564O243

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein ABHD14A
Names
abhydrolase domain-containing protein 14A
alpha/beta hydrolase domain-containing protein 14A

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_015407.5 → NP_056222.2  protein ABHD14A

    See identical proteins and their annotated locations for NP_056222.2

    Status: VALIDATED

    Source sequence(s)
    AY358201, BC002571, CN256406
    Consensus CDS
    CCDS2843.1
    UniProtKB/Swiss-Prot
    Q6UXU8, Q9BUJ0, Q9Y3T7
    Related
    ENSP00000273596.3, ENST00000273596.8
    Conserved Domains (2) summary
    COG0596
    Location:74 → 270
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    pfam12695
    Location:97 → 250
    Abhydrolase_5; Alpha/beta hydrolase family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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
    51975064..51981196
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    52007983..52014115
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BUJ0.2 GenPept UniProtKB/Swiss-Prot:Q9BUJ0

Gene LinkOut

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

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