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Protein

Palmitoyltransferase ZDHHC9

Gene

ZDHHC9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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)LengthDescriptionGraphical viewFeature identifierActions
Active sitei169 – 1691S-palmitoyl cysteine intermediateCurated

GO - Molecular functioni

  • palmitoyltransferase activity Source: UniProtKB
  • protein-cysteine S-palmitoyltransferase activity Source: UniProtKB-EC
  • Ras palmitoyltransferase activity Source: UniProtKB
  • zinc ion binding Source: InterPro

GO - Biological processi

  • peptidyl-L-cysteine S-palmitoylation Source: UniProtKB
  • protein palmitoylation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Acyltransferase, Transferase

Enzyme and pathway databases

BRENDAi2.3.1.225. 2681.

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

HGNCiHGNC:18475. ZDHHC9.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3535CytoplasmicSequence analysisAdd
BLAST
Transmembranei36 – 5621HelicalSequence analysisAdd
BLAST
Topological domaini57 – 637LumenalSequence analysis
Transmembranei64 – 8421HelicalSequence analysisAdd
BLAST
Topological domaini85 – 18399CytoplasmicSequence analysisAdd
BLAST
Transmembranei184 – 20421HelicalSequence analysisAdd
BLAST
Topological domaini205 – 22824LumenalSequence analysisAdd
BLAST
Transmembranei229 – 24921HelicalSequence analysisAdd
BLAST
Topological domaini250 – 364115CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • cytoplasm Source: HPA
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • Golgi apparatus Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • intrinsic component of Golgi membrane Source: UniProtKB
  • palmitoyltransferase complex Source: UniProtKB
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti148 – 1481R → W in MRXSZ. 2 Publications
Corresponds to variant rs137852214 [ dbSNP | Ensembl ].
VAR_062674
Natural varianti150 – 1501P → S in MRXSZ. 2 Publications
Corresponds to variant rs137852215 [ dbSNP | Ensembl ].
VAR_062675

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi169 – 1691C → S: Abolishes palmitoyltransferase activity. 1 Publication

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiZDHHC9.
DMDMi28202113.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 364364Palmitoyltransferase ZDHHC9PRO_0000212880Add
BLAST

Keywords - PTMi

Lipoprotein, Palmitate

Proteomic databases

PaxDbiQ9Y397.
PeptideAtlasiQ9Y397.
PRIDEiQ9Y397.

PTM databases

iPTMnetiQ9Y397.
PhosphoSiteiQ9Y397.
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.
CleanExiHS_ZDHHC9.
ExpressionAtlasiQ9Y397. baseline and differential.
GenevisibleiQ9Y397. HS.

Organism-specific databases

HPAiHPA031814.

Interactioni

Subunit structurei

Interacts with GOLGA7.1 Publication

Protein-protein interaction databases

BioGridi119302. 20 interactions.
STRINGi9606.ENSP00000349689.

Structurei

3D structure databases

ProteinModelPortaliQ9Y397.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini139 – 18951DHHCPROSITE-ProRule annotationAdd
BLAST

Domaini

The DHHC domain is required for palmitoyltransferase activity.

Sequence similaritiesi

Contains 1 DHHC domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1311. Eukaryota.
COG5273. LUCA.
GeneTreeiENSGT00550000074293.
HOVERGENiHBG056239.
InParanoidiQ9Y397.
KOiK16675.
OMAiSPNEMPE.
OrthoDBiEOG091G0BOW.
PhylomeDBiQ9Y397.
TreeFamiTF312923.

Family and domain databases

InterProiIPR001594. Znf_DHHC_palmitoyltrfase.
[Graphical view]
PfamiPF01529. zf-DHHC. 1 hit.
[Graphical view]
PROSITEiPS50216. DHHC. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti35 – 351K → R in BAA91740 (PubMed:14702039).Curated
Sequence conflicti52 – 521F → L in BAA91740 (PubMed:14702039).Curated
Sequence conflicti118 – 1192QG → GY in AAD34084 (PubMed:10810093).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti148 – 1481R → W in MRXSZ. 2 Publications
Corresponds to variant rs137852214 [ dbSNP | Ensembl ].
VAR_062674
Natural varianti150 – 1501P → S in MRXSZ. 2 Publications
Corresponds to variant rs137852215 [ dbSNP | Ensembl ].
VAR_062675

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, AL359542 Genomic DNA. Translation: CAI42905.1.
AL359542, AL034405 Genomic DNA. Translation: CAI42069.1.
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.

Cross-referencesi

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, AL359542 Genomic DNA. Translation: CAI42905.1.
AL359542, AL034405 Genomic DNA. Translation: CAI42069.1.
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.

3D structure databases

ProteinModelPortaliQ9Y397.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119302. 20 interactions.
STRINGi9606.ENSP00000349689.

PTM databases

iPTMnetiQ9Y397.
PhosphoSiteiQ9Y397.
SwissPalmiQ9Y397.

Polymorphism and mutation databases

BioMutaiZDHHC9.
DMDMi28202113.

Proteomic databases

PaxDbiQ9Y397.
PeptideAtlasiQ9Y397.
PRIDEiQ9Y397.

Protocols and materials databases

DNASUi51114.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi51114.
GeneCardsiZDHHC9.
HGNCiHGNC:18475. ZDHHC9.
HPAiHPA031814.
MalaCardsiZDHHC9.
MIMi300646. gene.
300799. phenotype.
neXtProtiNX_Q9Y397.
Orphaneti776. X-linked intellectual disability with marfanoid habitus.
PharmGKBiPA38340.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1311. Eukaryota.
COG5273. LUCA.
GeneTreeiENSGT00550000074293.
HOVERGENiHBG056239.
InParanoidiQ9Y397.
KOiK16675.
OMAiSPNEMPE.
OrthoDBiEOG091G0BOW.
PhylomeDBiQ9Y397.
TreeFamiTF312923.

Enzyme and pathway databases

BRENDAi2.3.1.225. 2681.

Miscellaneous databases

ChiTaRSiZDHHC9. human.
GeneWikiiZDHHC9.
GenomeRNAii51114.
PROiQ9Y397.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000188706.
CleanExiHS_ZDHHC9.
ExpressionAtlasiQ9Y397. baseline and differential.
GenevisibleiQ9Y397. HS.

Family and domain databases

InterProiIPR001594. Znf_DHHC_palmitoyltrfase.
[Graphical view]
PfamiPF01529. zf-DHHC. 1 hit.
[Graphical view]
PROSITEiPS50216. DHHC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiZDHC9_HUMAN
AccessioniPrimary (citable) accession number: Q9Y397
Secondary accession number(s): B4F6G2
, D3DTF9, Q59EK4, Q5JSW5, Q8WWS7, Q9BPY4, Q9NSP0, Q9NVL0, Q9NVR6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 2003
Last sequence update: February 1, 2003
Last modified: September 7, 2016
This is version 139 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.