Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51114
Gene name Gene Name - the full gene name approved by the HGNC.
ZDHHC palmitoyltransferase 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZDHHC9
Synonyms (NCBI Gene) Gene synonyms aliases
CGI89, CXorf11, DHHC9, MMSA1, MRXSR, MRXSZ, ZDHHC10, ZNF379, ZNF380
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq26.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 specifical
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137852214 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs137852215 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs606231182 AGCG>- Pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
rs606231183 C>G Pathogenic Intron variant
rs1064793355 A>G Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT045775 hsa-miR-125a-5p CLASH 23622248
MIRT038235 hsa-miR-330-5p CLASH 23622248
MIRT438628 hsa-miR-134-5p Luciferase reporter assay 24127608
MIRT438628 hsa-miR-134-5p Luciferase reporter assay 24127608
MIRT438628 hsa-miR-134-5p Luciferase reporter assay 24127608
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 16000296
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0000165 Process MAPK cascade TAS
GO:0002178 Component Palmitoyltransferase complex IDA 16000296
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300646 18475 ENSG00000188706
Protein
UniProt ID Q9Y397
Protein name Palmitoyltransferase ZDHHC9 (EC 2.3.1.225) (Zinc finger DHHC domain-containing protein 9) (DHHC-9) (DHHC9) (Zinc finger protein 379) (Zinc finger protein 380)
Protein function Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates, such as ADRB2, GSDMD, HRAS, NRAS and CGAS (PubMed:16000296, PubMed:27481942, PubMed:37802025, PubMed:38530158, PubMed:38599239). The ZDHHC9-GOLGA7 com
PDB 8HF3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01529 DHHC 134 263 DHHC palmitoyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in kidney, skeletal muscle, brain, lung and liver. Absent in thymus, spleen and leukocytes. {ECO:0000269|PubMed:16000296}.
Sequence
MSVMVVRKKVTRKWEKLPGRNTFCCDGRVMMARQKGIFYLTLFLILGTCTLFFAFECRYL
AVQLSPAIPVFAAMLFLFSMATLLRTSFSDPGVIPRALPDEAAFIEMEIEATNGAVPQGQ
RPPPRIKNFQINNQIVKLKYCYTCKIFRPPRASHCSICDNCVERFDHHCPWVGNCVGKRN
YRYFYLFILSLSLLTIYVFAFNIVYVALKSLKIGFLETLKETPGTVLEVLICFFTLWSVV
GLTGFHTFLVALNQTTNEDIKGS
WTGKNRVQNPYSHGNIVKNCCEVLCGPLPPSVLDRRG
ILPLEESGSRPPSTQETSSSLLPQSPAPTEHLNSNEMPEDSSTPEEMPPPEPPEPPQEAA
EAEK
Sequence length 364
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation intellectual disability rs137852214 N/A
Mental Retardation, X-Linked Syndromic X-linked intellectual disability Raymond type rs606231183, rs137852214, rs137852215, rs1131690786, rs606231182 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
autism spectrum disorder Autism spectrum disorder N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Stimulate 17519897
Apraxias Associate 27747153
Brain Diseases Associate 27747153
Cognition Disorders Associate 28168288, 31639257
Colonic Neoplasms Stimulate 17519897
Colorectal Neoplasms Associate 17519897
Developmental Disabilities Associate 28168288, 31639257
Disruptive Impulse Control and Conduct Disorders Associate 28168288
Epilepsy Associate 27747153
Gastrointestinal Neoplasms Associate 17519897