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Protein

Palmitoyltransferase ZDHHC9

Gene

ZDHHC9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS.1 Publication

Catalytic activityi

Palmitoyl-CoA + [protein]-L-cysteine = [protein]-S-palmitoyl-L-cysteine + CoA.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei169S-palmitoyl cysteine intermediateCurated1

GO - Molecular functioni

  • palmitoyltransferase activity Source: UniProtKB
  • Ras palmitoyltransferase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionAcyltransferase, Transferase

Enzyme and pathway databases

BRENDAi2.3.1.225 2681

Protein family/group databases

TCDBi9.B.37.2.3 the huntington-interacting protein 14 (hip14) family

Names & Taxonomyi

Protein namesi
Recommended name:
Palmitoyltransferase ZDHHC9 (EC:2.3.1.225)
Alternative name(s):
Zinc finger DHHC domain-containing protein 9
Short name:
DHHC-9
Short name:
DHHC9
Zinc finger protein 379
Zinc finger protein 380
Gene namesi
Name:ZDHHC9
Synonyms:CXorf11, ZDHHC10, ZNF379, ZNF380
ORF Names:CGI-89, UNQ261/PRO298
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000188706.12
HGNCiHGNC:18475 ZDHHC9
MIMi300646 gene
neXtProtiNX_Q9Y397

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 35CytoplasmicSequence analysisAdd BLAST35
Transmembranei36 – 56HelicalSequence analysisAdd BLAST21
Topological domaini57 – 63LumenalSequence analysis7
Transmembranei64 – 84HelicalSequence analysisAdd BLAST21
Topological domaini85 – 183CytoplasmicSequence analysisAdd BLAST99
Transmembranei184 – 204HelicalSequence analysisAdd BLAST21
Topological domaini205 – 228LumenalSequence analysisAdd BLAST24
Transmembranei229 – 249HelicalSequence analysisAdd BLAST21
Topological domaini250 – 364CytoplasmicSequence analysisAdd BLAST115

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Mental retardation, X-linked, syndromic, ZDHHC9-related (MRXSZ)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Some MRXSZ patients have marfanoid habitus as an additional feature.
See also OMIM:300799
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062674148R → W in MRXSZ. 2 PublicationsCorresponds to variant dbSNP:rs137852214EnsemblClinVar.1
Natural variantiVAR_062675150P → S in MRXSZ. 2 PublicationsCorresponds to variant dbSNP:rs137852215EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi169C → S: Abolishes palmitoyltransferase activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi51114
MalaCardsiZDHHC9
MIMi300799 phenotype
OpenTargetsiENSG00000188706
Orphaneti776 X-linked intellectual disability with marfanoid habitus
PharmGKBiPA38340

Polymorphism and mutation databases

BioMutaiZDHHC9
DMDMi28202113

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002128801 – 364Palmitoyltransferase ZDHHC9Add BLAST364

Keywords - PTMi

Lipoprotein, Palmitate

Proteomic databases

PaxDbiQ9Y397
PeptideAtlasiQ9Y397
PRIDEiQ9Y397
ProteomicsDBi85988

PTM databases

iPTMnetiQ9Y397
PhosphoSitePlusiQ9Y397
SwissPalmiQ9Y397

Expressioni

Tissue specificityi

Highly expressed in kidney, skeletal muscle, brain, lung and liver. Absent in thymus, spleen and leukocytes.1 Publication

Gene expression databases

BgeeiENSG00000188706 Expressed in 187 organ(s), highest expression level in corpus callosum
CleanExiHS_ZDHHC9
ExpressionAtlasiQ9Y397 baseline and differential
GenevisibleiQ9Y397 HS

Organism-specific databases

HPAiHPA031814

Interactioni

Subunit structurei

Interacts with GOLGA7.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CREB3O43889-23EBI-12690113,EBI-625022

Protein-protein interaction databases

BioGridi119302, 31 interactors
IntActiQ9Y397, 1 interactor
STRINGi9606.ENSP00000349689

Structurei

3D structure databases

ProteinModelPortaliQ9Y397
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini139 – 189DHHCPROSITE-ProRule annotationAdd BLAST51

Domaini

The DHHC domain is required for palmitoyltransferase activity.

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1311 Eukaryota
COG5273 LUCA
GeneTreeiENSGT00550000074293
HOVERGENiHBG056239
InParanoidiQ9Y397
KOiK16675
OMAiRYFYLFT
OrthoDBiEOG091G0BOW
PhylomeDBiQ9Y397
TreeFamiTF312923

Family and domain databases

InterProiView protein in InterPro
IPR001594 Palmitoyltrfase_DHHC
IPR030292 ZDHHC9
PANTHERiPTHR22883:SF71 PTHR22883:SF71, 1 hit
PfamiView protein in Pfam
PF01529 DHHC, 1 hit
PROSITEiView protein in PROSITE
PS50216 DHHC, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.iShow all

Q9Y397-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSVMVVRKKV TRKWEKLPGR NTFCCDGRVM MARQKGIFYL TLFLILGTCT
60 70 80 90 100
LFFAFECRYL AVQLSPAIPV FAAMLFLFSM ATLLRTSFSD PGVIPRALPD
110 120 130 140 150
EAAFIEMEIE ATNGAVPQGQ RPPPRIKNFQ INNQIVKLKY CYTCKIFRPP
160 170 180 190 200
RASHCSICDN CVERFDHHCP WVGNCVGKRN YRYFYLFILS LSLLTIYVFA
210 220 230 240 250
FNIVYVALKS LKIGFLETLK ETPGTVLEVL ICFFTLWSVV GLTGFHTFLV
260 270 280 290 300
ALNQTTNEDI KGSWTGKNRV QNPYSHGNIV KNCCEVLCGP LPPSVLDRRG
310 320 330 340 350
ILPLEESGSR PPSTQETSSS LLPQSPAPTE HLNSNEMPED SSTPEEMPPP
360
EPPEPPQEAA EAEK
Length:364
Mass (Da):40,916
Last modified:February 1, 2003 - v2
Checksum:iD1E97F3A93CC439F
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5JYE8Q5JYE8_HUMAN
Palmitoyltransferase
ZDHHC9
170Annotation score:
H0Y6K6H0Y6K6_HUMAN
Palmitoyltransferase
ZDHHC9
194Annotation score:

Sequence cautioni

The sequence AAD34084 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA91683 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAD93044 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAB82308 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti35K → R in BAA91740 (PubMed:14702039).Curated1
Sequence conflicti52F → L in BAA91740 (PubMed:14702039).Curated1
Sequence conflicti118 – 119QG → GY in AAD34084 (PubMed:10810093).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062674148R → W in MRXSZ. 2 PublicationsCorresponds to variant dbSNP:rs137852214EnsemblClinVar.1
Natural variantiVAR_062675150P → S in MRXSZ. 2 PublicationsCorresponds to variant dbSNP:rs137852215EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY952881 mRNA Translation: ACF60379.1
AF151847 mRNA Translation: AAD34084.1 Different initiation.
AY358558 mRNA Translation: AAQ88922.1
AK001524 mRNA Translation: BAA91740.1
AK001424 mRNA Translation: BAA91683.1 Different initiation.
AB209807 mRNA Translation: BAD93044.1 Different initiation.
AL161962 mRNA Translation: CAB82308.1 Different initiation.
AL034405 Genomic DNA No translation available.
AL359542 Genomic DNA No translation available.
CH471107 Genomic DNA Translation: EAX11823.1
CH471107 Genomic DNA Translation: EAX11824.1
CH471107 Genomic DNA Translation: EAX11825.1
BC000035 mRNA Translation: AAH00035.1
BC003128 mRNA Translation: AAH03128.1
BC006200 mRNA Translation: AAH06200.1
BC012826 mRNA Translation: AAH12826.1
CCDSiCCDS35395.1
RefSeqiNP_001008223.1, NM_001008222.2
NP_057116.2, NM_016032.3
UniGeneiHs.193566

Genome annotation databases

EnsembliENST00000357166; ENSP00000349689; ENSG00000188706
ENST00000371064; ENSP00000360103; ENSG00000188706
GeneIDi51114
KEGGihsa:51114
UCSCiuc004euv.4 human

Similar proteinsi

Entry informationi

Entry nameiZDHC9_HUMAN
AccessioniPrimary (citable) accession number: Q9Y397
Secondary accession number(s): B4F6G2
, D3DTF9, Q59EK4, Q5JSW5, Q8WWS7, Q9BPY4, Q9NSP0, Q9NVL0, Q9NVR6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 2003
Last sequence update: February 1, 2003
Last modified: September 12, 2018
This is version 152 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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