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

Gene ID: 54503, updated on 3-Nov-2024

Summary

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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 canonical NF-kappaB signal transduction. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in esophagus (RPKM 18.5), urinary bladder (RPKM 11.0) and 24 other tissues See more
Orthologs
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Genomic context

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See ZDHHC13 in Genome Data Viewer
Location:
11p15.1
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (19117104..19176415)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (19237229..19296555)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (19138715..19197962)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene MAS related GPR family member X9, pseudogene Neighboring gene MAS related GPR family member X2 Neighboring gene Sharpr-MPRA regulatory region 14303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3196 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3197 Neighboring gene VISTA enhancer hs2144 Neighboring gene VISTA enhancer hs2145 Neighboring gene CSRP3 and E2F8 antisense RNA 1 Neighboring gene cysteine and glycine rich protein 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:19253866-19255065 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3198 Neighboring gene E2F transcription factor 8

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Neuronal palmitoyl acyl transferases exhibit distinct substrate specificity. Huang K, et al. FASEB J, 2009 Aug. PMID 19299482, Free PMC Article
  2. AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis. Sun Y, et al. Cancer Res, 2023 Apr 4. PMID 36701140, Free PMC Article
  3. Mice with alopecia, osteoporosis, and systemic amyloidosis due to mutation in Zdhhc13, a gene coding for palmitoyl acyltransferase. Saleem AN, et al. PLoS Genet, 2010 Jun 10. PMID 20548961, Free PMC Article
  4. Role of S-Palmitoylation by ZDHHC13 in Mitochondrial function and Metabolism in Liver. Shen LF, et al. Sci Rep, 2017 May 19. PMID 28526873, Free PMC Article
  5. Identification of binding sites in Huntingtin for the Huntingtin Interacting Proteins HIP14 and HIP14L. Sanders SS, et al. PLoS One, 2014. PMID 24651384, Free PMC Article

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis.
    Title: AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis.
  2. 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.
  3. 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.
  4. 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.
  5. 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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10852, FLJ10941, MGC64994

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 ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein-cysteine S-palmitoyltransferase activity IBA
Inferred from Biological aspect of Ancestor
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 PubMed 
involved_in protein targeting to membrane 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 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
NP_061901.2
XP_005253053.1
XP_011518496.1
XP_011518497.1
XP_047283094.1
XP_047283095.1
XP_047283096.1
XP_047283097.1
XP_047283098.1
XP_047283099.1
XP_047283100.1
XP_054225133.1
XP_054225134.1
XP_054225135.1
XP_054225136.1
XP_054225137.1
XP_054225138.1
XP_054225139.1
XP_054225140.1
XP_054225141.1
XP_054225142.1

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)

  1. 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]

  2. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    19117104..19176415
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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]

  2. XM_047427141.1 → XP_047283097.1  palmitoyltransferase ZDHHC13 isoform X4

  3. 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]

  4. XM_047427142.1 → XP_047283098.1  palmitoyltransferase ZDHHC13 isoform X7

  5. XM_047427143.1 → XP_047283099.1  palmitoyltransferase ZDHHC13 isoform X7

  6. XM_047427139.1 → XP_047283095.1  palmitoyltransferase ZDHHC13 isoform X2

  7. 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)

  8. XM_047427144.1 → XP_047283100.1  palmitoyltransferase ZDHHC13 isoform X8

  9. XM_047427140.1 → XP_047283096.1  palmitoyltransferase ZDHHC13 isoform X3

  10. XM_047427138.1 → XP_047283094.1  palmitoyltransferase ZDHHC13 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    19237229..19296555
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369163.1 → XP_054225138.1  palmitoyltransferase ZDHHC13 isoform X6

  2. XM_054369161.1 → XP_054225136.1  palmitoyltransferase ZDHHC13 isoform X4

  3. XM_054369164.1 → XP_054225139.1  palmitoyltransferase ZDHHC13 isoform X6

  4. XM_054369165.1 → XP_054225140.1  palmitoyltransferase ZDHHC13 isoform X7

  5. XM_054369166.1 → XP_054225141.1  palmitoyltransferase ZDHHC13 isoform X7

  6. XM_054369159.1 → XP_054225134.1  palmitoyltransferase ZDHHC13 isoform X2

  7. XM_054369162.1 → XP_054225137.1  palmitoyltransferase ZDHHC13 isoform X5

  8. XM_054369167.1 → XP_054225142.1  palmitoyltransferase ZDHHC13 isoform X8

  9. XM_054369160.1 → XP_054225135.1  palmitoyltransferase ZDHHC13 isoform X3

  10. XM_054369158.1 → XP_054225133.1  palmitoyltransferase ZDHHC13 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IUH4.3 GenPept UniProtKB/Swiss-Prot:Q8IUH4

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