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

    Gene ID: 29801, updated on 10-Dec-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
    mouse all
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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

    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)

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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