ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZDHHC8provided by HGNC
Official Full Name: zinc finger DHHC-type palmitoyltransferase 8provided by HGNC
Primary source: HGNC:HGNC:18474
See related: Ensembl:ENSG00000099904 MIM:608784; AllianceGenome:HGNC:18474
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DHHC8; ZNF378; ZDHHCL1
Summary: This gene encodes a four transmembrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein may function as a palmitoyltransferase. Defects in this gene may be associated with a susceptibility to schizophrenia. Alternate splicing of this gene results in multiple transcript variants. A pseudogene of this gene is found on chromosome 22.[provided by RefSeq, May 2010]
Expression: Ubiquitous expression in fat (RPKM 6.8), spleen (RPKM 6.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.21

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (20131804..20148007)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (20510837..20527042)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (20119327..20135530)

Chromosome 22 - NC_000022.11 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 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?

AMPKalpha1-mediated ZDHHC8 phosphorylation promotes the palmitoylation of SLC7A11 to facilitate ferroptosis resistance in glioblastoma.
Title: AMPKα1-mediated ZDHHC8 phosphorylation promotes the palmitoylation of SLC7A11 to facilitate ferroptosis resistance in glioblastoma.
the association between the COMT Val158Met and ZDHHC8 rs175174 single nucleotide polymorphism and the susceptibility to schizophrenia through a case-control study involving a population from the North Region of Brazil, was investigated.
Title: Lack of association between COMT Val158Met and ZDHHC8 rs175174 polymorphisms and susceptibility to schizophrenia in a Brazilian population.
These data suggest that ZDHHC8 may play a role in cortical volumes in patients with schizophrenia.
Title: ZDHHC8 gene may play a role in cortical volumes of patients with schizophrenia.
increased corpus callosum volume in children with 22q11DS is associated with ZDHHC8 polymorphism.
Title: Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms.
Consistently negative associations with schizophrenia were found in the rs175174 polymorphism
Title: Testing for genetic association between the ZDHHC8 gene locus and susceptibility to schizophrenia: An integrated analysis of multiple datasets.
The present study provides the first evidence that ZDHHC8 polymorphisms on the 22q11 locus are associated with smooth pursuit eye movement (SPEM)abnormality in a Korean population.
Title: Association of ZDHHC8 polymorphisms with smooth pursuit eye movement abnormality.
Data show that palmitoyl acyltransferases DHHC5, DHHC6, and DHHC8 appear to be S-acylated on three cysteine residues within a novel CCX(7-13)C(S/T) motif downstream of a conserved Asp-His-His-Cys cysteine-rich domain.
Title: Proteome scale characterization of human S-acylated proteins in lipid raft-enriched and non-raft membranes.
Meta-analysis of gene-disease association. (HuGE Navigator)
Title: Testing for genetic association between the ZDHHC8 gene locus and susceptibility to schizophrenia: An integrated analysis of multiple datasets.
Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of ZDHHC8 polymorphisms with smooth pursuit eye movement abnormality.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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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Markers

SHGC-58939 (e-PCR)
- UniSTS:94484

A008R36 (e-PCR)
- UniSTS:4897

RH91790 (e-PCR)
- UniSTS:87197

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables palmitoyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables palmitoyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-cysteine S-palmitoyltransferase activity	IC Inferred by Curator more info	PubMed
enables protein-cysteine S-palmitoyltransferase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in high-density lipoprotein particle assembly	TAS Traceable Author Statement more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in peptidyl-L-cysteine S-palmitoylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation by host of viral process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cholesterol efflux	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cholesterol efflux	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein localization to plasma membrane	IC Inferred by Curator more info	PubMed
involved_in protein palmitoylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynapse assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in cytosol	TAS Traceable Author Statement more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: palmitoyltransferase ZDHHC8

Names: membrane-associated DHHC8 zinc finger protein; zinc finger DHHC-type containing 8; zinc finger protein 378; zinc finger, DHHC domain like containing 1

NP_001171953.1

EC 2.3.1.225

NP_037505.1

EC 2.3.1.225

XP_006724302.1

EC 2.3.1.225

XP_054181567.1

EC 2.3.1.225

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.

Genomic

NG_021420.1 RefSeqGene

Range

4964..21167

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001185024.2 → NP_001171953.1 palmitoyltransferase ZDHHC8 isoform 1

See identical proteins and their annotated locations for NP_001171953.1

Status: REVIEWED

Description

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

Source sequence(s)

AC006547, AK131238, AY894890

Consensus CDS

CCDS54502.1

UniProtKB/Swiss-Prot

Q9ULC8

Related

ENSP00000384716.3, ENST00000405930.3

Conserved Domains (2) summary

PHA03247
Location:333 → 771

PHA03247; large tegument protein UL36; Provisional

pfam01529
Location:99 → 224

DHHC; DHHC palmitoyltransferase
NM_013373.4 → NP_037505.1 palmitoyltransferase ZDHHC8 isoform 2

See identical proteins and their annotated locations for NP_037505.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC006547, AY894890, BC053544

Consensus CDS

CCDS13776.1

UniProtKB/Swiss-Prot

Q2TGE9, Q6ICL1, Q6ZNF5, Q7Z6L9, Q9ULC8

Related

ENSP00000334490.7, ENST00000334554.12

Conserved Domains (2) summary

PHA03247
Location:333 → 754

PHA03247; large tegument protein UL36; Provisional

pfam01529
Location:99 → 224

DHHC; DHHC palmitoyltransferase

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_000022.11 Reference GRCh38.p14 Primary Assembly

Range

20131804..20148007

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006724239.3 → XP_006724302.1 palmitoyltransferase ZDHHC8 isoform X1

See identical proteins and their annotated locations for XP_006724302.1

UniProtKB/Swiss-Prot

Q9ULC8

Conserved Domains (2) summary

PHA03247
Location:333 → 771

PHA03247; large tegument protein UL36; Provisional

pfam01529
Location:99 → 224

DHHC; DHHC palmitoyltransferase