ABHD17A abhydrolase domain containing 17A, depalmitoylase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABHD17Aprovided by HGNC
Official Full Name: abhydrolase domain containing 17A, depalmitoylaseprovided by HGNC
Primary source: HGNC:HGNC:28756
See related: Ensembl:ENSG00000129968 MIM:617942; AllianceGenome:HGNC:28756
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: C19orf27; FAM108A1
Summary: Enables palmitoyl-(protein) hydrolase activity. Involved in negative regulation of NLRP3 inflammasome complex assembly; protein depalmitoylation; and protein localization to membrane. Located in endosome membrane; nuclear speck; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in spleen (RPKM 12.7), bone marrow (RPKM 10.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (1876810..1885496, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (1848130..1856816, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (1876809..1885495, complement)

Chromosome 19 - NC_000019.10 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Site-specific deacylation by ABHD17a controls BK channel splice variant activity.
Title: Site-specific deacylation by ABHD17a controls BK channel splice variant activity.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables palmitoyl-(protein) hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables palmitoyl-(protein) hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables palmitoyl-(protein) hydrolase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of NLRP3 inflammasome complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein localization to microtubule	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein localization to endosome	IEA Inferred from Electronic Annotation more info
involved_in protein depalmitoylation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein depalmitoylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of postsynapse organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
is_active_in endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info
located_in postsynaptic recycling endosome membrane	IEA Inferred from Electronic Annotation more info
located_in recycling endosome membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: alpha/beta hydrolase domain-containing protein 17A

Names: abhydrolase domain-containing protein 17A; abhydrolase domain-containing protein FAM108A1; family with sequence similarity 108, member A1; protein ABHD17A

NP_001123583.1

EC 3.1.2.22

NP_112490.3

EC 3.1.2.22

XP_011526640.1

EC 3.1.2.22

XP_047295443.1

EC 3.1.2.22

XP_047295444.1

EC 3.1.2.22

XP_047295445.1

EC 3.1.2.22

XP_054178245.1

EC 3.1.2.22

XP_054178246.1

EC 3.1.2.22

XP_054178247.1

EC 3.1.2.22

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_001130111.2 → NP_001123583.1 alpha/beta hydrolase domain-containing protein 17A isoform 2

See identical proteins and their annotated locations for NP_001123583.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) is lacking an in-frame coding exon compared to transcript variant 1, resulting in a shorter isoform (2) missing an internal protein segment compared to isoform 1.

Source sequence(s)

AC012615, BC020512, BC035961, DB025570

Consensus CDS

CCDS45902.1

UniProtKB/Swiss-Prot

A8K0G8, D6W5Z9, Q6PJU2, Q8WUH9, Q96GS6, Q9BWL0, Q9H7Q9

UniProtKB/TrEMBL

A0A7I2YQW9

Related

ENSP00000292577.6, ENST00000292577.12

Conserved Domains (1) summary

COG1073
Location:113 → 305

FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]
NM_031213.4 → NP_112490.3 alpha/beta hydrolase domain-containing protein 17A isoform 1

See identical proteins and their annotated locations for NP_112490.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC012615, BC020512, DB025570

Consensus CDS

CCDS32867.1

UniProtKB/TrEMBL

A0A7I2YQW9

Related

ENSP00000250974.9, ENST00000250974.9

Conserved Domains (2) summary

pfam12146
Location:161 → 335

Hydrolase_4; Serine aminopeptidase, S33

pfam12695
Location:164 → 336

Abhydrolase_5; Alpha/beta hydrolase family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

1876810..1885496 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047439487.1 → XP_047295443.1 alpha/beta hydrolase domain-containing protein 17A isoform X1

UniProtKB/Swiss-Prot

A8K0G8, D6W5Z9, Q6PJU2, Q8WUH9, Q96GS6, Q9BWL0, Q9H7Q9
XM_011528338.3 → XP_011526640.1 alpha/beta hydrolase domain-containing protein 17A isoform X4

See identical proteins and their annotated locations for XP_011526640.1

UniProtKB/TrEMBL

A0A7I2YQW9

Conserved Domains (2) summary

pfam12146
Location:161 → 335

Hydrolase_4; Serine aminopeptidase, S33

pfam12695
Location:164 → 336

Abhydrolase_5; Alpha/beta hydrolase family
XM_047439489.1 → XP_047295445.1 alpha/beta hydrolase domain-containing protein 17A isoform X3
XM_047439488.1 → XP_047295444.1 alpha/beta hydrolase domain-containing protein 17A isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

1848130..1856816 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054322272.1 → XP_054178247.1 alpha/beta hydrolase domain-containing protein 17A isoform X4
XM_054322270.1 → XP_054178245.1 alpha/beta hydrolase domain-containing protein 17A isoform X1

UniProtKB/Swiss-Prot

A8K0G8, D6W5Z9, Q6PJU2, Q8WUH9, Q96GS6, Q9BWL0, Q9H7Q9
XM_054322271.1 → XP_054178246.1 alpha/beta hydrolase domain-containing protein 17A isoform X2