ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZDHHC13provided by HGNC
Official Full Name: zinc finger DHHC-type palmitoyltransferase 13provided by HGNC
Primary source: HGNC:HGNC:18413
See related: Ensembl:ENSG00000177054 MIM:612815; AllianceGenome:HGNC:18413
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: HIP14L; HIP3RP
Summary: Predicted to enable magnesium ion transmembrane transporter activity and palmitoyltransferase activity. Involved in positive regulation of I-kappaB kinase/NF-kappaB signaling. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in esophagus (RPKM 18.5), urinary bladder (RPKM 11.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.1

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (19117104..19176415)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (19237229..19296555)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (19138715..19197962)

Chromosome 11 - NC_000011.10 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
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?

AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis.
Title: AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis.
this is the first study to demonstrate that defects in ZDHHC13, a PAT, leads to phenotypes in mice, including non-thyroidal hypermetabolism, mitochondrial dysfunction, and abnormal lipid metabolism.
Title: Role of S-Palmitoylation by ZDHHC13 in Mitochondrial function and Metabolism in Liver.
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.
huntingtin interacting protein genes, HIP14 and HIP14L, encode Mg2+ transport proteins that are regulated by their innate palmitoyl acyltransferases thus fulfilling the characteristics of "chanzymes."
Title: Huntingtin-interacting proteins, HIP14 and HIP14L, mediate dual functions, palmitoyl acyltransferase and Mg2+ transport.

Submit: New GeneRIF Correction

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

WI-17833 (e-PCR)
- UniSTS:21094

ZDHHC13__4933 (e-PCR)
- UniSTS:462954

SHGC-84498 (e-PCR)
- UniSTS:102844

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables magnesium ion transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables palmitoyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables palmitoyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein-cysteine S-palmitoyltransferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in magnesium ion transmembrane transport	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	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi-associated vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: palmitoyltransferase ZDHHC13

Names: DHHC-13; HIP14-related protein; huntingtin interacting protein HIP3RP; huntingtin-interacting protein 14-related protein; probable palmitoyltransferase ZDHHC13; putative MAPK-activating protein PM03; putative NF-kappa-B-activating protein 209; zinc finger DHHC domain-containing protein 13; zinc finger DHHC-type containing 13; zinc finger, DHHC domain containing 13

NP_001001483.1

EC 2.3.1.225

NP_061901.2

EC 2.3.1.225

XP_005253053.1

EC 2.3.1.225

XP_011518496.1

EC 2.3.1.225

XP_011518497.1

EC 2.3.1.225

XP_047283094.1

EC 2.3.1.225

XP_047283095.1

EC 2.3.1.225

XP_047283096.1

EC 2.3.1.225

XP_047283097.1

EC 2.3.1.225

XP_047283098.1

EC 2.3.1.225

XP_047283099.1

EC 2.3.1.225

XP_047283100.1

EC 2.3.1.225

XP_054225133.1

EC 2.3.1.225

XP_054225134.1

EC 2.3.1.225

XP_054225135.1

EC 2.3.1.225

XP_054225136.1

EC 2.3.1.225

XP_054225137.1

EC 2.3.1.225

XP_054225138.1

EC 2.3.1.225

XP_054225139.1

EC 2.3.1.225

XP_054225140.1

EC 2.3.1.225

XP_054225141.1

EC 2.3.1.225

XP_054225142.1

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_001001483.3 → NP_001001483.1 palmitoyltransferase ZDHHC13 isoform 2

See identical proteins and their annotated locations for NP_001001483.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 5' region which results in translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

BC050690, BC056152

Consensus CDS

CCDS44551.1

UniProtKB/Swiss-Prot

Q8IUH4

Related

ENSP00000382288.3, ENST00000399351.7

Conserved Domains (5) summary

cd00204
Location:15 → 139

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 ...

pfam01529
Location:293 → 429

zf-DHHC; DHHC palmitoyltransferase

pfam12796
Location:23 → 117

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:4 → 39

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:18 → 49

ANK; ANK repeat [structural motif]
NM_019028.3 → NP_061901.2 palmitoyltransferase ZDHHC13 isoform 1

See identical proteins and their annotated locations for NP_061901.2

Status: VALIDATED

Description

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

Source sequence(s)

AB097014, BC056152

Consensus CDS

CCDS44550.1

UniProtKB/Swiss-Prot

Q7Z2D3, Q86VK2, Q8IUH4, Q9NV30, Q9NV99

UniProtKB/TrEMBL

A8K5N3

Related

ENSP00000400113.2, ENST00000446113.7

Conserved Domains (4) summary

COG0666
Location:145 → 271

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00204
Location:79 → 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:81 → 112

ANK; ANK repeat [structural motif]

pfam01529
Location:423 → 559

zf-DHHC; DHHC palmitoyltransferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

19117104..19176415

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011520195.2 → XP_011518497.1 palmitoyltransferase ZDHHC13 isoform X6

See identical proteins and their annotated locations for XP_011518497.1

UniProtKB/Swiss-Prot

Q8IUH4

Conserved Domains (5) summary

cd00204
Location:15 → 139

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 ...

pfam01529
Location:293 → 429

zf-DHHC; DHHC palmitoyltransferase

pfam12796
Location:23 → 117

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:4 → 39

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:18 → 49

ANK; ANK repeat [structural motif]
XM_047427141.1 → XP_047283097.1 palmitoyltransferase ZDHHC13 isoform X4
XM_005252996.3 → XP_005253053.1 palmitoyltransferase ZDHHC13 isoform X6

See identical proteins and their annotated locations for XP_005253053.1

UniProtKB/Swiss-Prot

Q8IUH4

Conserved Domains (5) summary

cd00204
Location:15 → 139

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 ...

pfam01529
Location:293 → 429

zf-DHHC; DHHC palmitoyltransferase

pfam12796
Location:23 → 117

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:4 → 39

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:18 → 49

ANK; ANK repeat [structural motif]
XM_047427142.1 → XP_047283098.1 palmitoyltransferase ZDHHC13 isoform X7
XM_047427143.1 → XP_047283099.1 palmitoyltransferase ZDHHC13 isoform X7
XM_047427139.1 → XP_047283095.1 palmitoyltransferase ZDHHC13 isoform X2
XM_011520194.3 → XP_011518496.1 palmitoyltransferase ZDHHC13 isoform X5

Conserved Domains (7) summary

cd00204
Location:99 → 212

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 ...

pfam01529
Location:443 → 513

zf-DHHC; DHHC palmitoyltransferase

pfam12796
Location:106 → 199

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:222 → 277

Ank_5; Ankyrin repeats (many copies)

pfam13900
Location:2 → 20

GVQW; Putative domain of unknown function

sd00045
Location:101 → 132

ANK; ANK repeat [structural motif]

cl00337
Location:347 → 410

PT_UbiA; UbiA family of prenyltransferases (PTases)
XM_047427144.1 → XP_047283100.1 palmitoyltransferase ZDHHC13 isoform X8
XM_047427140.1 → XP_047283096.1 palmitoyltransferase ZDHHC13 isoform X3
XM_047427138.1 → XP_047283094.1 palmitoyltransferase ZDHHC13 isoform X1