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

Gene ID: 51114, updated on 10-Dec-2019

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
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; 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

Genomic context

See ZDHHC9 in Genome Data Viewer
Location:
Xq26.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (129803288..129843886, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (128937264..128977910, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene X-prolyl aminopeptidase 2 Neighboring gene SAM and SH3 domain containing 3 Neighboring gene spalt like transcription factor 4 pseudogene 2 Neighboring gene uncharacterized LOC105373335 Neighboring gene UTP14A small subunit processome component

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, X-linked, syndromic, Raymond type
MedGen: C3275406 OMIM: 300799 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-25)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2012-04-25)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Ras palmitoyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
palmitoyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-cysteine S-palmitoyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
peptidyl-L-cysteine S-palmitoylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-L-cysteine S-palmitoylation IDA
Inferred from Direct Assay
more info
PubMed 
protein palmitoylation IDA
Inferred from Direct Assay
more info
PubMed 
protein targeting to membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intrinsic component of Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
palmitoyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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
NP_057116.2
XP_011529650.1

NCBI Reference Sequences (RefSeq)

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_021387.1 RefSeqGene

    Range
    5336..45647
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001008222.3NP_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
    Q9Y397
    Related
    ENSP00000360103.3, ENST00000371064.7
    Conserved Domains (1) summary
    pfam01529
    Location:138263
    zf-DHHC; DHHC palmitoyltransferase
  2. NM_016032.4NP_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
    Q9Y397
    Related
    ENSP00000349689.6, ENST00000357166.11
    Conserved Domains (1) summary
    pfam01529
    Location:138263
    zf-DHHC; DHHC palmitoyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    129803288..129843886 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531348.3XP_011529650.1  palmitoyltransferase ZDHHC9 isoform X1

    Conserved Domains (1) summary
    cl19890
    Location:17170
    zf-DHHC; DHHC palmitoyltransferase

RNA

  1. XR_001755694.2 RNA Sequence

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