ABHD17C abhydrolase domain containing 17C, depalmitoylase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABHD17Cprovided by HGNC
Official Full Name: abhydrolase domain containing 17C, depalmitoylaseprovided by HGNC
Primary source: HGNC:HGNC:26925
See related: Ensembl:ENSG00000136379 MIM:617944; AllianceGenome:HGNC:26925
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: FAM108C1
Summary: Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation. Predicted to be located in postsynaptic density. Predicted to be active in endosome membrane; glutamatergic synapse; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in colon (RPKM 37.1), stomach (RPKM 19.2) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q25.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (80695310..80755621)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (78558868..78619168)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (80987651..81047962)

Chromosome 15 - NC_000015.10 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?

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

EBI GWAS Catalog

Description
Genome-wide association study of antibody response to smallpox vaccine. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

SHGC-58937 (e-PCR)
- UniSTS:94483

WI-14644 (e-PCR)
- UniSTS:77383

SHGC-133006 (e-PCR)
- UniSTS:170971

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	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 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	IBA Inferred from Biological aspect of Ancestor 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 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 glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density 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 17C

Names: abhydrolase domain-containing protein 17C; abhydrolase domain-containing protein FAM108C1; family with sequence similarity 108, member C1; protein ABHD17C

NP_067037.1

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_021214.2 → NP_067037.1 alpha/beta hydrolase domain-containing protein 17C

See identical proteins and their annotated locations for NP_067037.1

Status: VALIDATED

Source sequence(s)

AC023302, AL390079, BC059401

Consensus CDS

CCDS45323.1

UniProtKB/Swiss-Prot

Q1RMD6, Q6PCB6, Q9NPM1

Related

ENSP00000258884.4, ENST00000258884.5

Conserved Domains (1) summary

COG1073
Location:134 → 326

FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]