ZDHHC17 zinc finger DHHC-type palmitoyltransferase 17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZDHHC17provided by HGNC
Official Full Name: zinc finger DHHC-type palmitoyltransferase 17provided by HGNC
Primary source: HGNC:HGNC:18412
See related: Ensembl:ENSG00000186908 MIM:607799; AllianceGenome:HGNC:18412
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HIP3; HYPH; HIP14; DHHC17; DHHC-17; HSPC294
Summary: Enables identical protein binding activity and protein-cysteine S-palmitoyltransferase activity. Involved in lipoprotein transport; protein palmitoylation; and regulation of programmed cell death. Located in Golgi membrane and Golgi-associated vesicle membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in brain (RPKM 20.0), endometrium (RPKM 12.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q21.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (76764115..76853701)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (76742025..76831585)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (77157895..77247481)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Activation of JNK and p38 MAPK Mediated by ZDHHC17 Drives Glioblastoma Multiforme Development and Malignant Progression.
Title: Activation of JNK and p38 MAPK Mediated by ZDHHC17 Drives Glioblastoma Multiforme Development and Malignant Progression.
Data reveal the structural basis of interaction between DHHC17, and SNAP25b, a canonical substrate. These results show the role of critical residues for substrate binding and palmitate transfer and the involvement of the same residues in binding Huntingtin, another important substrate of DHHC17.
Title: Structural Basis for Substrate Recognition by the Ankyrin Repeat Domain of Human DHHC17 Palmitoyltransferase.
The large number of zDABM sequences within the human proteome suggests that zDHHC17 may be an interaction hub regulating many cellular processes.
Title: Peptide array-based screening reveals a large number of proteins interacting with the ankyrin-repeat domain of the zDHHC17 S-acyltransferase.
CPj0783 might cause abnormal vesicle-mediated transport by interacting with HIP14.
Title: Chlamydia pneumoniae CPj0783 interaction with Huntingtin-protein14.
This suggests that altered HIP14-HTT and HIP14L-HTT interactions in the presence of the HD mutation reduces palmitoylation and promotes mislocalization of HTT and other HIP14/HIP14L substrates
Title: Aberrant palmitoylation in Huntington disease.
Data show that deletion of huntingtin protein (HTT) amino acids 1-427 abolishes the interaction of HTT with palmitoyl acyltransferases huntingtin interacting protein 14 (HIP14) and huntingtin interacting protein 14-like (HIP14L).
Title: Identification of binding sites in Huntingtin for the Huntingtin Interacting Proteins HIP14 and HIP14L.
HIP14 shares a high proportion of interactors with HTT resulting in defective palmitoylation of the target proteins which might be an important mechanism towards pathogenesis of Huntington's disease.
Title: The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease.
DHHC17 is a ClipR-59 palmitoyltransferase that modulates ClipR-59 plasma membrane binding.
Title: DHHC17 palmitoylates ClipR-59 and modulates ClipR-59 association with the plasma membrane.
Low levels of human HIP14 are sufficient to rescue neuropathological, behavioural, and enzymatic defects due to loss of murine HIP14 in Hip14-/- mice.
Title: Low levels of human HIP14 are sufficient to rescue neuropathological, behavioural, and enzymatic defects due to loss of murine HIP14 in Hip14-/- mice.
Immunohistochemical analysis of pancreatic sections demonstrated that HIP14 is almost exclusively expressed in insulin-positive cells in islets of Langerhans.
Title: Huntingtin-interacting protein 14 is a type 1 diabetes candidate protein regulating insulin secretion and beta-cell apoptosis.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S1709 (e-PCR)
- UniSTS:19510

SHGC-110735 (e-PCR)
- UniSTS:167995

RH122940 (e-PCR)
- UniSTS:135237

SGC44319 (e-PCR)
- UniSTS:27498

D12S1912 (e-PCR)
- UniSTS:7278

G64414 (e-PCR)
- UniSTS:163724

RH11174 (e-PCR)
- UniSTS:79246

WI-19323 (e-PCR)
- UniSTS:79247

G31144 (e-PCR)
- UniSTS:69571

SHGC-44319 (e-PCR)
- UniSTS:24567

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables palmitoyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables palmitoyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-cysteine S-myristoyltransferase activity	IEA Inferred from Electronic Annotation more info
enables protein-cysteine S-palmitoyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-cysteine S-palmitoyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-cysteine S-stearoyltransferase activity	IEA Inferred from Electronic Annotation more info
enables signaling receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in axonogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in axonogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipoprotein transport	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-L-cysteine S-palmitoylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of canonical NF-kappaB signal transduction	HMP more info	PubMed
involved_in protein palmitoylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein palmitoylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein targeting to membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of modification of synapse structure, modulating synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in regulation of neurotrophin TRK receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of programmed cell death	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi-associated vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in perforant pathway to dendrate granule cell synapse	IEA Inferred from Electronic Annotation more info
located_in postsynaptic Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: palmitoyltransferase ZDHHC17

Names: DHHC domain-containing cysteine-rich protein 17; acyltransferase ZDHHC17; acyltransferase ZDHHC7; huntingtin interacting protein 14; huntingtin interacting protein 3; huntingtin yeast partner H; huntingtin-interacting protein H; putative MAPK-activating protein PM11; putative NF-kappa-B-activating protein 205; zinc finger DHHC domain-containing protein 17; zinc finger DHHC-type containing 17

NP_001346555.1

EC 2.3.1.225

NP_056151.2

EC 2.3.1.225

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001359626.1 → NP_001346555.1 palmitoyltransferase ZDHHC17 isoform 2

Status: VALIDATED

Source sequence(s)

AA843159, AB023163, BC050324, DA803825

UniProtKB/TrEMBL

A8KA01

Conserved Domains (3) summary

cd00204
Location:77 → 192

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

sd00045
Location:146 → 177

ANK; ANK repeat [structural motif]

pfam01529
Location:428 → 558

zf-DHHC; DHHC palmitoyltransferase
NM_015336.4 → NP_056151.2 palmitoyltransferase ZDHHC17 isoform 1

See identical proteins and their annotated locations for NP_056151.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC093014, AC124784

Consensus CDS

CCDS44946.1

UniProtKB/Swiss-Prot

B4DR39, O75407, Q7Z2I0, Q86W89, Q86YK0, Q8IUH5, Q9P088, Q9UPZ8

Related

ENSP00000403397.2, ENST00000426126.7

Conserved Domains (4) summary

sd00045
Location:156 → 187

ANK; ANK repeat [structural motif]

pfam01529
Location:438 → 568

DHHC; DHHC palmitoyltransferase

pfam12796
Location:161 → 255

Ank_2; Ankyrin repeats (3 copies)

cl39094
Location:229 → 286

Ank_2; Ankyrin repeats (3 copies)