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

Gene ID: 84885, updated on 28-Oct-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, Oct 2024]
Expression
Ubiquitous expression in colon (RPKM 15.2), stomach (RPKM 13.4) and 25 other tissues See more
Orthologs
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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

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