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

Gene ID: 68644, updated on 2-Nov-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, Nov 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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