Human Gene ZDHHC17 (ENST00000426126.7) from GENCODE V44
  Description: Homo sapiens zinc finger DHHC-type palmitoyltransferase 17 (ZDHHC17), transcript variant 1, mRNA. (from RefSeq NM_015336)
Gencode Transcript: ENST00000426126.7
Gencode Gene: ENSG00000186908.15
Transcript (Including UTRs)
   Position: hg38 chr12:76,764,115-76,853,696 Size: 89,582 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg38 chr12:76,764,237-76,850,985 Size: 86,749 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:76,764,115-76,853,696)mRNA (may differ from genome)Protein (632 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDMalacardsMGIneXtProtOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZDH17_HUMAN
DESCRIPTION: RecName: Full=Palmitoyltransferase ZDHHC17; EC=2.3.1.-; AltName: Full=Huntingtin yeast partner H; AltName: Full=Huntingtin-interacting protein 14; Short=HIP-14; AltName: Full=Huntingtin-interacting protein 3; Short=HIP-3; AltName: Full=Huntingtin-interacting protein H; AltName: Full=Putative MAPK-activating protein PM11; AltName: Full=Putative NF-kappa-B-activating protein 205; AltName: Full=Zinc finger DHHC domain-containing protein 17; Short=DHHC-17;
FUNCTION: Palmitoyltransferase specific for a subset of neuronal proteins, including SNAP25, DLG4/PSD95, GAD2, SYT1 and HD. Palmitoylates MPP1 in erythrocytes. May be involved in the sorting or targeting of critical proteins involved in the initiating events of endocytosis at the plasma membrane. Has transforming activity. Mediates Mg(2+) transport.
CATALYTIC ACTIVITY: Palmitoyl-CoA + protein-cysteine = S-palmitoyl protein + CoA.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.87 mM for for magnesium ions;
SUBUNIT: Interacts (via ANK repeats) with HD. This interaction is inversely correlated to the length of the polyglutamine tract added to the huntingtin protein in Huntington disease.
INTERACTION: P60880:SNAP25; NbExp=3; IntAct=EBI-524753, EBI-524785;
SUBCELLULAR LOCATION: Golgi apparatus membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein. Note=Low extracellular Mg(2+) induces increase in Golgi and in post-Golgi membrane vesicles.
TISSUE SPECIFICITY: Expressed in all brain regions. Expression is highest in the cortex, cerebellum, occipital lobe and caudate and lowest in the spinal cord. Expression is also seen in testis, pancreas, heart and kidney. ZDHHC17 is the only palmitoyltransferase in erythrocytes.
DOMAIN: The DHHC domain is required for palmitoyltransferase activity.
PTM: Autopalmitoylated. Autopalmitoylation has a regulatory role in ZDHHC17-mediated Mg(2+) transport.
MISCELLANEOUS: The early and prominent pathology of HD is observed in the medium spiny neurons that project into the globus.
SIMILARITY: Belongs to the DHHC palmitoyltransferase family. AKR/ZDHHC17 subfamily.
SIMILARITY: Contains 5 ANK repeats.
SIMILARITY: Contains 1 DHHC-type zinc finger.
SEQUENCE CAUTION: Sequence=AAF28972.1; Type=Frameshift; Positions=183, 191; Sequence=AAH30990.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAA76790.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAC77366.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC77388.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ZDHHC17
Diseases sorted by gene-association score: huntington disease (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.96 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 439.96 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -59.50122-0.488 Picture PostScript Text
3' UTR -609.702711-0.225 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR001594 - Znf_DHHC_palmitoyltrfase

Pfam Domains:
PF00023 - Ankyrin repeat
PF12796 - Ankyrin repeats (3 copies)
PF01529 - DHHC palmitoyltransferase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3EU9 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8IUH5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGIRGDEnsemblEnsemblWormBaseSGD
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
AlignmentAlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0015095 magnesium ion transmembrane transporter activity
GO:0016409 palmitoyltransferase activity
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0019706 protein-cysteine S-palmitoyltransferase activity
GO:0042802 identical protein binding

Biological Process:
GO:0018345 protein palmitoylation
GO:0042953 lipoprotein transport
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:1903830 magnesium ion transmembrane transport

Cellular Component:
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016235 aggresome
GO:0030054 cell junction
GO:0030659 cytoplasmic vesicle membrane
GO:0030660 Golgi-associated vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0042734 presynaptic membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0045202 synapse


-  Descriptions from all associated GenBank mRNAs
  AB024494 - Homo sapiens HIP3 mRNA for huntingtin interacting protein 3, complete cds.
LP895253 - Sequence 117 from Patent EP3253886.
BC030990 - Homo sapiens zinc finger, DHHC-type containing 17, mRNA (cDNA clone IMAGE:4105569), partial cds.
BC050324 - Homo sapiens zinc finger, DHHC-type containing 17, mRNA (cDNA clone MGC:48450 IMAGE:5266097), complete cds.
AB023163 - Homo sapiens KIAA0946 mRNA for KIAA0946 protein.
CU690640 - Synthetic construct Homo sapiens gateway clone IMAGE:100020968 5' read ZDHHC17 mRNA.
AB385406 - Synthetic construct DNA, clone: pF1KA0946, Homo sapiens ZDHHC17 gene for palmitoyltransferase ZDHHC17, complete cds, without stop codon, in Flexi system.
KJ893364 - Synthetic construct Homo sapiens clone ccsbBroadEn_02758 ZDHHC17 gene, encodes complete protein.
AF049612 - Homo sapiens huntingtin interacting protein HYPH mRNA, partial cds.
AF161412 - Homo sapiens HSPC294 mRNA, partial cds.
AB097013 - Homo sapiens mRNA for putative NFkB activating protein, complete cds, clone: 205.
AB097035 - Homo sapiens mRNA for putative MAPK activating protein, complete cds, clone: PM11.
AK299089 - Homo sapiens cDNA FLJ54870 complete cds, highly similar to Palmitoyltransferase ZDHHC17 (EC 2.3.1.-).
AK292866 - Homo sapiens cDNA FLJ77443 complete cds, highly similar to Homo sapiens mRNA for putative MAPK activating protein.
JD389920 - Sequence 370944 from Patent EP1572962.
JD406347 - Sequence 387371 from Patent EP1572962.
JD057507 - Sequence 38531 from Patent EP1572962.
JD141149 - Sequence 122173 from Patent EP1572962.
JD436754 - Sequence 417778 from Patent EP1572962.
JD429804 - Sequence 410828 from Patent EP1572962.
JD296505 - Sequence 277529 from Patent EP1572962.
JD268463 - Sequence 249487 from Patent EP1572962.
JD491152 - Sequence 472176 from Patent EP1572962.
JD037540 - Sequence 18564 from Patent EP1572962.
JD185163 - Sequence 166187 from Patent EP1572962.
JD086679 - Sequence 67703 from Patent EP1572962.
JD342871 - Sequence 323895 from Patent EP1572962.
JD155577 - Sequence 136601 from Patent EP1572962.
JD528842 - Sequence 509866 from Patent EP1572962.
JD519901 - Sequence 500925 from Patent EP1572962.
JD434001 - Sequence 415025 from Patent EP1572962.
JD236636 - Sequence 217660 from Patent EP1572962.
JD565573 - Sequence 546597 from Patent EP1572962.
JD094286 - Sequence 75310 from Patent EP1572962.
JD110821 - Sequence 91845 from Patent EP1572962.
JD553544 - Sequence 534568 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B4DR39, ENST00000426126.1, ENST00000426126.2, ENST00000426126.3, ENST00000426126.4, ENST00000426126.5, ENST00000426126.6, HIP14, HIP3, HSPC294, HYPH, KIAA0946, NM_015336, O75407, Q7Z2I0, Q86W89, Q86YK0, Q8IUH5, Q9P088, Q9UPZ8, uc001syk.1, uc001syk.2, uc001syk.3, ZDH17_HUMAN
UCSC ID: ENST00000426126.7
RefSeq Accession: NM_015336
Protein: Q8IUH5 (aka ZDH17_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.