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    Abhd14a abhydrolase domain containing 14A [ Mus musculus (house mouse) ]

    Gene ID: 68644, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Abhd14aprovided by MGI
    Official Full Name
    abhydrolase domain containing 14Aprovided by MGI
    Primary source
    MGI:MGI:1915894
    See related
    Ensembl:ENSMUSG00000042210 AllianceGenome:MGI:1915894
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Dorz1; 1110013B16Rik
    Summary
    Predicted to enable hydrolase activity. Located in cytoplasm. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system gland; and retina nuclear layer. Orthologous to human ABHD14A (abhydrolase domain containing 14A). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 37.5), kidney adult (RPKM 22.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Abhd14a in Genome Data Viewer
    Location:
    9 F1; 9 57.51 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (106317250..106328402, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (106440051..106451203, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_25150 Neighboring gene ribosomal protein L29 Neighboring gene STARR-positive B cell enhancer ABC_E11423 Neighboring gene aminoacylase 1 Neighboring gene abhydrolase domain containing 14b Neighboring gene poly(rC) binding protein 4 Neighboring gene G protein-coupled receptor 62 Neighboring gene poly (ADP-ribose) polymerase family, member 3 Neighboring gene STARR-positive B cell enhancer ABC_E716

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    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. Tissue expression patterns identify mouse cilia genes. McClintock TS, et al. Physiol Genomics, 2008 Jan 17. PMID 17971504
    3. Genomic analysis of mouse retinal development. Blackshaw S, et al. PLoS Biol, 2004 Sep. PMID 15226823, Free PMC Article
    4. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. Ingham NJ, et al. PLoS Biol, 2019 Apr. PMID 30973865, Free PMC Article
    5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    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
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    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
    down-regulated in Zic-1-mutant protein
    down-regulated in Zic1 deficient cerebellar primordium
    downregulated in Zic1 deficient cerebellum

    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_001110271.2 → NP_001103741.2  protein ABHD14A isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a. Variants 1, 4 and 6 encode the same protein (isoform a).
      Source sequence(s)
      AC151729
      UniProtKB/Swiss-Prot
      Q8K4S5, Q922Q6
      UniProtKB/TrEMBL
      E9Q136
      Related
      ENSMUSP00000126101.3, ENSMUST00000171678.9
      Conserved Domains (1) summary
      COG0596
      Location:45 → 241
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    2. NM_001110272.2 → NP_001103742.2  protein ABHD14A isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks a segment in the 5' UTR and uses a different splice site in the 3' CDS, compared to variant 1. The resulting protein (isoform b) is longer when it is compared to isoform a. Variants 3 and 5 encode the same protein (isoform b).
      Source sequence(s)
      AC151729
      UniProtKB/Swiss-Prot
      Q8K4S5, Q922Q6
      UniProtKB/TrEMBL
      E9PW22
      Related
      ENSMUSP00000126916.3, ENSMUST00000171925.8
      Conserved Domains (1) summary
      COG0596
      Location:45 → 259
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    3. NM_001359225.2 → NP_001346154.2  protein ABHD14A isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 5' UTR, compared to variant 1. Variants 1, 4 and 6 encode the same protein (isoform a).
      Source sequence(s)
      AC151729
      UniProtKB/Swiss-Prot
      Q8K4S5, Q922Q6
      UniProtKB/TrEMBL
      E9Q136
      Conserved Domains (1) summary
      COG0596
      Location:45 → 241
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    4. NM_001374659.1 → NP_001361588.1  protein ABHD14A isoform b

      Status: VALIDATED

      Source sequence(s)
      AC151729
      UniProtKB/Swiss-Prot
      Q8K4S5, Q922Q6
      UniProtKB/TrEMBL
      E9PW22
      Conserved Domains (1) summary
      COG0596
      Location:45 → 259
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    5. NM_001374660.1 → NP_001361589.1  protein ABHD14A isoform a

      Status: VALIDATED

      Source sequence(s)
      AC151729
      UniProtKB/Swiss-Prot
      Q8K4S5, Q922Q6
      UniProtKB/TrEMBL
      E9Q136
      Related
      ENSMUSP00000140345.3, ENSMUST00000185334.7
      Conserved Domains (1) summary
      COG0596
      Location:45 → 241
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      106317250..106328402 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006511805.4 → XP_006511868.1  protein ABHD14A isoform X3

      See identical proteins and their annotated locations for XP_006511868.1

      UniProtKB/Swiss-Prot
      Q8K4S5, Q922Q6
      Conserved Domains (1) summary
      COG0596
      Location:51 → 247
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    2. XM_036155231.1 → XP_036011124.1  protein ABHD14A isoform X2

      UniProtKB/Swiss-Prot
      Q8K4S5, Q922Q6
      Conserved Domains (1) summary
      COG0596
      Location:51 → 254
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    3. XM_036155230.1 → XP_036011123.1  protein ABHD14A isoform X1

      UniProtKB/Swiss-Prot
      Q8K4S5, Q922Q6
      Conserved Domains (1) summary
      COG0596
      Location:51 → 272
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    4. XM_006511803.5 → XP_006511866.1  protein ABHD14A isoform X3

      See identical proteins and their annotated locations for XP_006511866.1

      UniProtKB/Swiss-Prot
      Q8K4S5, Q922Q6
      Conserved Domains (1) summary
      COG0596
      Location:51 → 247
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    5. XM_030244546.2 → XP_030100406.1  protein ABHD14A isoform X1

      UniProtKB/Swiss-Prot
      Q8K4S5, Q922Q6
      Conserved Domains (1) summary
      COG0596
      Location:51 → 272
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    6. XM_006511802.5 → XP_006511865.1  protein ABHD14A isoform X2

      UniProtKB/Swiss-Prot
      Q8K4S5, Q922Q6
      Conserved Domains (1) summary
      COG0596
      Location:51 → 254
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    7. XM_030244548.2 → XP_030100408.1  protein ABHD14A isoform X2

      UniProtKB/Swiss-Prot
      Q8K4S5, Q922Q6
      Conserved Domains (1) summary
      COG0596
      Location:51 → 254
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    8. XM_030244547.2 → XP_030100407.1  protein ABHD14A isoform X1

      UniProtKB/Swiss-Prot
      Q8K4S5, Q922Q6
      Conserved Domains (1) summary
      COG0596
      Location:51 → 272
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    9. XM_006511796.5 → XP_006511859.1  protein ABHD14A isoform X1

      See identical proteins and their annotated locations for XP_006511859.1

      UniProtKB/Swiss-Prot
      Q8K4S5, Q922Q6
      Conserved Domains (1) summary
      COG0596
      Location:51 → 272
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    10. XM_036155229.1 → XP_036011122.1  protein ABHD14A isoform X1

      UniProtKB/Swiss-Prot
      Q8K4S5, Q922Q6
      Conserved Domains (1) summary
      COG0596
      Location:51 → 272
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    11. XM_036155228.1 → XP_036011121.1  protein ABHD14A isoform X1

      UniProtKB/Swiss-Prot
      Q8K4S5, Q922Q6
      Conserved Domains (1) summary
      COG0596
      Location:51 → 272
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145919.2: Suppressed sequence

      Description
      NM_145919.2: This RefSeq was removed because it represented non-reference-assembly strain-specific sequence variation.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q922Q6.2 GenPept UniProtKB/Swiss-Prot:Q922Q6

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

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