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

Summary

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

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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Abhd14a is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.
Title: Tissue expression patterns identify mouse cilia genes.
The expression of Dorz1 in the developing cerebellum peaked at embryonic day 17.5, and at that stage Dorz1 transcripts were detected in cerebellar granule neuron precursors where Zic1 expression is enhanced.
Title: Dorz1, a novel gene expressed in differentiating cerebellar granule neurons, is down-regulated in Zic1-deficient mouse.

Submit: New GeneRIF Correction

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

AW558221 (e-PCR)
- UniSTS:179968

D9Dcr89 (e-PCR), detects polymorphism
- UniSTS:499051

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)

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]
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]
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]
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]
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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

106317250..106328402 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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]
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]
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]
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]
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]
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]
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]
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]
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]
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

NM_145919.2: Suppressed sequence

Description

NM_145919.2: This RefSeq was removed because it represented non-reference-assembly strain-specific sequence variation.