ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZDHHC9provided by HGNC
Official Full Name: zinc finger DHHC-type palmitoyltransferase 9provided by HGNC
Primary source: HGNC:HGNC:18475
See related: Ensembl:ENSG00000188706 MIM:300646; AllianceGenome:HGNC:18475
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: CGI89; DHHC9; MMSA1; MRXSR; MRXSZ; ZNF379; ZNF380; CXorf11; ZDHHC10
Summary: This gene encodes an integral membrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein forms a complex with golgin subfamily A member 7 and functions as a palmitoyltransferase. This protein specifically palmitoylates HRAS and NRAS. Mutations in this gene are associated with X-linked cognitive disability. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, May 2010]
Expression: Ubiquitous expression in brain (RPKM 17.9), kidney (RPKM 10.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq26.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (129803288..129843886, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (128122064..128162666, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (128937264..128977862, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

Involvement of ZDHHC9 in lung adenocarcinoma: regulation of PD-L1 stability via palmitoylation.
Title: Involvement of ZDHHC9 in lung adenocarcinoma: regulation of PD-L1 stability via palmitoylation.
DHHC9-mediated GLUT1 S-palmitoylation promotes glioblastoma glycolysis and tumorigenesis.
Title: DHHC9-mediated GLUT1 S-palmitoylation promotes glioblastoma glycolysis and tumorigenesis.
The results demonstrate that a mutation in a ZDHHC9 mutation impacts upon white matter organization across the whole-brain, but also shows regionally specific effects, according to variation in gene expression.
Title: Global and Local Connectivity Differences Converge With Gene Expression in a Neurodevelopmental Disorder of Known Genetic Origin.
studies suggest that ZDHHC9 may serve as a safe and effective target for developing therapies against NRAS-driven cancers
Title: Palmitoylacyltransferase Zdhhc9 inactivation mitigates leukemogenic potential of oncogenic Nras.
Data demonstrate that ZDHHC9 mutations are associated with reductions in cortical thickness and white matter microstructural integrity, particularly in regions and networks known to contribute to language function.
Title: Structural brain abnormalities in a single gene disorder associated with epilepsy, language impairment and intellectual disability.
De novo ZDHHC9 mutation was identified in a patient with X-linked intellectual disability.
Title: The first patient with sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing.
Report demonstrated that MMSA-1 is specifically expressed in multiple myeloma patients and its upregulation is associated with unfavorable clinical features and poor prognosis.
Title: MMSA-1 expression pattern in multiple myeloma and its clinical significance.
ZDHHC9 gene mutation is associated with Lujan-Fryns syndrome.
Title: Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
Two missense mutation, R148W and P150S,of zDHHC9, affecting the autopalmitoylation is associated with the X-linked intellectual disability.
Title: Mutations in the X-linked intellectual disability gene, zDHHC9, alter autopalmitoylation activity by distinct mechanisms.
Data indicate that sp-Erf2/zDHHC9 palmitoylates Ras proteins in a highly selective manner in the trans-Golgi compartment to facilitate PM targeting via the trans-Golgi network, a role that is most certainly critical for Ras-driven tumorigenesis.
Title: Regulation of Ras localization and cell transformation by evolutionarily conserved palmitoyltransferases.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Syndromic X-linked intellectual disability Raymond type MedGen: C3275406 OMIM: 300799 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-12) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2021-10-12) ClinGen Genome Curation Page

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

AL032614 (e-PCR)
- UniSTS:93223

ZDHHC9 (e-PCR)
- UniSTS:506676

WI-13538 (e-PCR)
- UniSTS:25662

AL032594 (e-PCR)
- UniSTS:93276

STS-R49987 (e-PCR)
- UniSTS:1743

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Ras palmitoyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables palmitoyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction 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
enables protein-cysteine S-palmitoyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein-cysteine S-palmitoyltransferase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in MAPK cascade	TAS Traceable Author Statement more info
involved_in peptidyl-L-cysteine S-palmitoylation	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-L-cysteine S-palmitoylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation by host of viral process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation by host of viral process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cGAS/STING signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of pyroptotic inflammatory response	IDA Inferred from Direct Assay more info	PubMed
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
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in cytosol	IDA Inferred from Direct Assay more info
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
is_active_in endoplasmic reticulum-Golgi intermediate compartment membrane	IC Inferred by Curator more info	PubMed
part_of palmitoyltransferase complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: palmitoyltransferase ZDHHC9

Names: Asp-His-His-Cys domain containing protein 9; antigen MMSA-1; zinc finger DHHC-type containing 9; zinc finger protein 379; zinc finger protein 380; zinc finger, DHHC domain containing 10

NP_001008223.1

EC 2.3.1.225

NP_057116.2

EC 2.3.1.225

XP_011529650.1

EC 2.3.1.225

XP_047298107.1

EC 2.3.1.225

XP_054183140.1

EC 2.3.1.225

XP_054183141.1

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_021387.1 RefSeqGene

Range

5049..45647

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001008222.3 → NP_001008223.1 palmitoyltransferase ZDHHC9

See identical proteins and their annotated locations for NP_001008223.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate 5' UTR and encodes the same protein, as compared to variant 1.

Source sequence(s)

AL034405, AL359542, BC000035, DA768650

Consensus CDS

CCDS35395.1

UniProtKB/Swiss-Prot

B4F6G2, D3DTF9, Q59EK4, Q5JSW5, Q8WWS7, Q9BPY4, Q9NSP0, Q9NVL0, Q9NVR6, Q9Y397

UniProtKB/TrEMBL

B3KM45

Related

ENSP00000360103.3, ENST00000371064.7

Conserved Domains (1) summary

pfam01529
Location:138 → 261

DHHC; DHHC palmitoyltransferase
NM_016032.4 → NP_057116.2 palmitoyltransferase ZDHHC9

See identical proteins and their annotated locations for NP_057116.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the longer transcript and both variants 1 and 2 encode the same protein.

Source sequence(s)

AL359542, BC003128, DA493628

Consensus CDS

CCDS35395.1

UniProtKB/Swiss-Prot

B4F6G2, D3DTF9, Q59EK4, Q5JSW5, Q8WWS7, Q9BPY4, Q9NSP0, Q9NVL0, Q9NVR6, Q9Y397

UniProtKB/TrEMBL

B3KM45

Related

ENSP00000349689.6, ENST00000357166.11

Conserved Domains (1) summary

pfam01529
Location:138 → 261

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_000023.11 Reference GRCh38.p14 Primary Assembly

Range

129803288..129843886 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047442151.1 → XP_047298107.1 palmitoyltransferase ZDHHC9 isoform X1
XM_011531348.4 → XP_011529650.1 palmitoyltransferase ZDHHC9 isoform X2

Conserved Domains (1) summary

cl19890
Location:17 → 170

zf-DHHC; DHHC palmitoyltransferase