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    ZDHHC12 zinc finger DHHC-type palmitoyltransferase 12 [ Homo sapiens (human) ]

    Gene ID: 84885, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZDHHC12provided by HGNC
    Official Full Name
    zinc finger DHHC-type palmitoyltransferase 12provided by HGNC
    Primary source
    HGNC:HGNC:19159
    See related
    Ensembl:ENSG00000160446 AllianceGenome:HGNC:19159
    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
    ZNF400; DHHC-12
    Summary
    Enables protein-cysteine S-palmitoyltransferase activity. Involved in gephyrin clustering involved in postsynaptic density assembly; negative regulation of NLRP3 inflammasome complex assembly; and protein palmitoylation. Located in Golgi apparatus and endoplasmic reticulum. Is active in dendritic spine. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in colon (RPKM 15.2), stomach (RPKM 13.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZDHHC12 in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (128720873..128724127, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140925640..140928894, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131483152..131486406, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene dynein 2 intermediate chain 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131445235-131445871 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131445872-131446509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131449798-131450674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20348 Neighboring gene SET nuclear proto-oncogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131465059-131465598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131475223-131475724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131475725-131476224 Neighboring gene RNA, 7SL, cytoplasmic 560, pseudogene Neighboring gene protein kinase N3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20350 Neighboring gene ZDHHC12 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131491015-131491846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131491847-131492678 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:131494472-131494972 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:131494973-131495473 Neighboring gene zyg-11 related cell cycle regulator Neighboring gene small nucleolar RNA U13

    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. Palmitoylation prevents sustained inflammation by limiting NLRP3 inflammasome activation through chaperone-mediated autophagy. Wang L, et al. Mol Cell, 2023 Jan 19. PMID 36586411
    2. Palmitoylation of gephyrin controls receptor clustering and plasticity of GABAergic synapses. Dejanovic B, et al. PLoS Biol, 2014 Jul. PMID 25025157, Free PMC Article
    3. Analysis of substrate specificity of human DHHC protein acyltransferases using a yeast expression system. Ohno Y, et al. Mol Biol Cell, 2012 Dec. PMID 23034182, Free PMC Article
    4. Intracellular localization and tissue-specific distribution of human and yeast DHHC cysteine-rich domain-containing proteins. Ohno Y, et al. Biochim Biophys Acta, 2006 Apr. PMID 16647879
    5. Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. Cheng CY, et al. Am J Hum Genet, 2013 Aug 8. PMID 24144296, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14524, MGC13153, MGC54050

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables palmitoyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein-cysteine S-palmitoyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein-cysteine S-palmitoyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in gephyrin clustering involved in postsynaptic density assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in gephyrin clustering involved in postsynaptic density assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of NLRP3 inflammasome complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peptidyl-L-cysteine S-palmitoylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of synaptic transmission, GABAergic ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein palmitoylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein targeting to membrane IBA
    Inferred from Biological aspect of Ancestor
    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 
    is_active_in Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in dendritic spine IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    palmitoyltransferase ZDHHC12
    Names
    DHHC domain-containing cysteine-rich protein 12
    probable palmitoyltransferase ZDHHC12
    zinc finger DHHC domain-containing protein 12
    zinc finger DHHC-type containing 12
    zinc finger protein 400
    NP_001304944.2
    NP_001304945.1
    NP_001304949.2
    NP_001304952.2
    NP_116188.3
    XP_011517418.1
    XP_054220000.1

    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.

    mRNA and Protein(s)

    1. NM_001318015.2 → NP_001304944.2  palmitoyltransferase ZDHHC12 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL441992
      UniProtKB/TrEMBL
      Q5T269
      Conserved Domains (1) summary
      cl19890
      Location:178 → 272
      DHHC; DHHC palmitoyltransferase

    2. NM_001318016.2 → NP_001304945.1  palmitoyltransferase ZDHHC12 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses alternate splice sites in the 5' coding region and the 3' terminal exon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL441992
      UniProtKB/Swiss-Prot
      Q96GR4
      Conserved Domains (1) summary
      cl19890
      Location:123 → 162
      zf-DHHC; DHHC palmitoyltransferase

    3. NM_001318020.2 → NP_001304949.2  palmitoyltransferase ZDHHC12 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses alternate splice sites in the 5' coding region and the 3' terminal exon, compared to variant 1. It encodes isoform 3, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL441992
      Conserved Domains (1) summary
      cl19890
      Location:123 → 165
      DHHC; DHHC palmitoyltransferase

    4. NM_001318023.2 → NP_001304952.2  palmitoyltransferase ZDHHC12 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses alternate in-frame splice sites in two exons compared to variant 1. It encodes isoform 4 which is shorter than isoform 1.
      Source sequence(s)
      AL441992
      UniProtKB/TrEMBL
      Q5T269
      Conserved Domains (1) summary
      cl19890
      Location:122 → 216
      DHHC; DHHC palmitoyltransferase

    5. NM_032799.5 → NP_116188.3  palmitoyltransferase ZDHHC12 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' coding region, compared to variant 1. It encodes isoform 5 which is shorter than isoform 1.
      Source sequence(s)
      AL441992
      Consensus CDS
      CCDS6909.1
      UniProtKB/Swiss-Prot
      A6NH95, B2RE03, Q5T265, Q5T267, Q5T268, Q86VT5, Q96GR4, Q96T09
      UniProtKB/TrEMBL
      Q5T269
      Related
      ENSP00000361748.4, ENST00000372663.9
      Conserved Domains (1) summary
      cl19890
      Location:123 → 217
      zf-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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      128720873..128724127 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519116.3 → XP_011517418.1  palmitoyltransferase ZDHHC12 isoform X1

      Conserved Domains (1) summary
      cl19890
      Location:178 → 220
      zf-DHHC; DHHC palmitoyltransferase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      140925640..140928894 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364025.1 → XP_054220000.1  palmitoyltransferase ZDHHC12 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96GR4.2 GenPept UniProtKB/Swiss-Prot:Q96GR4

    Gene LinkOut

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

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