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

Gene ID: 29801, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See ZDHHC8 in Genome Data Viewer
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_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13474 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13475 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13476 Neighboring gene tRNA methyltransferase 2 homolog A Neighboring gene microRNA 6816 Neighboring gene RAN binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18671 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13477 Neighboring gene small nucleolar RNA, H/ACA box 77B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13478 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20119547-20120200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20125107-20125706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13482 Neighboring gene coiled-coil domain containing 188 Neighboring gene Sharpr-MPRA regulatory region 11686 Neighboring gene enhancer-blocking element 22-3 upstream of CCDC188 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20164314-20165307 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:20166736-20166900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20174169-20174706 Neighboring gene CRISPRi-validated cis-regulatory element chr22.431 Neighboring gene long intergenic non-protein coding RNA 2891 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20190821-20191416

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Association of ZDHHC8 polymorphisms with smooth pursuit eye movement abnormality. Shin HD, et al. Am J Med Genet B Neuropsychiatr Genet, 2010 Sep. PMID 20468065
  2. Case-control study and transmission disequilibrium test provide consistent evidence for association between schizophrenia and genetic variation in the 22q11 gene ZDHHC8. Chen WY, et al. Hum Mol Genet, 2004 Dec 1. PMID 15489219
  3. Testing for genetic association between the ZDHHC8 gene locus and susceptibility to schizophrenia: An integrated analysis of multiple datasets. Xu M, et al. Am J Med Genet B Neuropsychiatr Genet, 2010 Oct 5. PMID 20661937
  4. No association was found between a functional SNP in ZDHHC8 and schizophrenia in a Japanese case-control population. Saito S, et al. Neurosci Lett, 2005 Feb 1. PMID 15631889
  5. No association between the putative functional ZDHHC8 single nucleotide polymorphism rs175174 and schizophrenia in large European samples. Glaser B, et al. Biol Psychiatry, 2005 Jul 1. PMID 15992527

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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
NP_037505.1
XP_006724302.1
XP_054181567.1

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

  1. NG_021420.1 RefSeqGene

    Range
    4964..21167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    20131804..20148007
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    20510837..20527042
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325592.1 → XP_054181567.1  palmitoyltransferase ZDHHC8 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9ULC8.3 GenPept UniProtKB/Swiss-Prot:Q9ULC8

Gene LinkOut

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