Aliases for HACD3 Gene

Aliases for HACD3 Gene

  • 3-Hydroxyacyl-CoA Dehydratase 3 2 3 4 5
  • Very-Long-Chain (3R)-3-Hydroxyacyl-CoA Dehydratase 3 2 3 4
  • Protein-Tyrosine Phosphatase-Like A Domain-Containing Protein 1 3 4
  • Protein Tyrosine Phosphatase-Like A Domain Containing 1 2 3
  • Butyrate-Induced Protein 1 3 4
  • HSPC121 2 3
  • PTPLAD1 3 4
  • B-Ind1 2 4
  • BIND1 3 4
  • Very-Long-Chain (3R)-3-Hydroxyacyl-[Acyl-Carrier Protein] Dehydratase 3 3
  • Protein Tyrosine Phosphatase-Like Protein PTPLAD1 3
  • Butyrate-Induced Transcript 1 3
  • EC 4.2.1.134 4
  • HB-Ind1 4
  • B-IND1 3
  • HACD3 5

External Ids for HACD3 Gene

Previous HGNC Symbols for HACD3 Gene

  • PTPLAD1

Summaries for HACD3 Gene

GeneCards Summary for HACD3 Gene

HACD3 (3-Hydroxyacyl-CoA Dehydratase 3) is a Protein Coding gene. Diseases associated with HACD3 include Spinocerebellar Ataxia 34. Among its related pathways are Metabolism and alpha-linolenic (omega3) and linoleic (omega6) acid metabolism. Gene Ontology (GO) annotations related to this gene include enzyme binding and lyase activity. An important paralog of this gene is HACD4.

UniProtKB/Swiss-Prot Summary for HACD3 Gene

  • Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May be involved in Rac1-signaling pathways leading to the modulation of gene expression. Promotes insulin receptor/INSR autophosphorylation and is involved in INSR internalization (PubMed:25687571).

Gene Wiki entry for HACD3 Gene

Additional gene information for HACD3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HACD3 Gene

Genomics for HACD3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HACD3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HACD3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HACD3

Genomic Locations for HACD3 Gene

Genomic Locations for HACD3 Gene
chr15:65,530,418-65,578,355
(GRCh38/hg38)
Size:
47,938 bases
Orientation:
Plus strand
chr15:65,822,756-65,870,693
(GRCh37/hg19)
Size:
47,938 bases
Orientation:
Plus strand

Genomic View for HACD3 Gene

Genes around HACD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HACD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HACD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HACD3 Gene

Proteins for HACD3 Gene

  • Protein details for HACD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P035-HACD3_HUMAN
    Recommended name:
    Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3
    Protein Accession:
    Q9P035
    Secondary Accessions:
    • A0PJA1
    • B4DRF4
    • Q280Z3
    • Q6PD63
    • Q8IUI5
    • Q8NC86
    • Q8NCB1
    • Q96T12
    • Q9NQA7

    Protein attributes for HACD3 Gene

    Size:
    362 amino acids
    Molecular mass:
    43160 Da
    Quaternary structure:
    • May interact with enzymes of the ELO family (including ELOVL1); with those enzymes that mediate condensation, the first of the four steps of the reaction cycle responsible for fatty acids elongation, may be part of a larger fatty acids elongase complex (PubMed:18554506). Interacts with RAC1 (PubMed:10747961). Associates with internalized insulin receptor/INSR complexes on Golgi/endosomal membranes; HACD3/PTPLAD1 together with ATIC and PRKAA2/AMPK2 is proposed to be part of a signaling network regulating INSR autophosphorylation and endocytosis (PubMed:25687571).
    SequenceCaution:
    • Sequence=AAF29085.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAC11249.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for HACD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HACD3 Gene

Post-translational modifications for HACD3 Gene

  • Ubiquitination at Lys98
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HACD3 Gene

Domains & Families for HACD3 Gene

Gene Families for HACD3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for HACD3 Gene

Suggested Antigen Peptide Sequences for HACD3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54138, highly similar to Homo sapiens butyrate-induced transcript 1 (HSPC121), mRNA (B4DRF4_HUMAN)
  • Protein-tyrosine phosphatase-like A domain-containing protein 1 (HACD3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P035

UniProtKB/Swiss-Prot:

HACD3_HUMAN :
  • Belongs to the very long-chain fatty acids dehydratase HACD family.
Family:
  • Belongs to the very long-chain fatty acids dehydratase HACD family.
genes like me logo Genes that share domains with HACD3: view

Function for HACD3 Gene

Molecular function for HACD3 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May be involved in Rac1-signaling pathways leading to the modulation of gene expression. Promotes insulin receptor/INSR autophosphorylation and is involved in INSR internalization (PubMed:25687571).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a very-long-chain (3R)-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O; Xref=Rhea:RHEA:45812, ChEBI:CHEBI:15377, ChEBI:CHEBI:83728, ChEBI:CHEBI:85440; EC=4.2.1.134; Evidence={ECO:0000269|PubMed:18554506};.
UniProtKB/Swiss-Prot Induction:
By AKAP12 and histone deacetylase inhibitors such as sodium butyrate.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=49.5 uM for 3-hydroxypalmitoyl-CoA (at 37 degrees Celsius) {ECO:0000269|PubMed:18554506};

Enzyme Numbers (IUBMB) for HACD3 Gene

Phenotypes From GWAS Catalog for HACD3 Gene

Gene Ontology (GO) - Molecular Function for HACD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS 10747961
GO:0005515 protein binding IPI 18160438
GO:0016829 lyase activity IEA --
GO:0018812 3-hydroxyacyl-CoA dehydratase activity IDA 18554506
GO:0019899 enzyme binding IDA 18554506
genes like me logo Genes that share ontologies with HACD3: view
genes like me logo Genes that share phenotypes with HACD3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for HACD3

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HACD3

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HACD3 Gene

Localization for HACD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HACD3 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HACD3 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 4
plasma membrane 2
mitochondrion 2
cytosol 2
extracellular 1
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HACD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 18554506
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005925 focal adhesion HDA 21423176
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HACD3: view

Pathways & Interactions for HACD3 Gene

genes like me logo Genes that share pathways with HACD3: view

UniProtKB/Swiss-Prot Q9P035-HACD3_HUMAN

  • Pathway: Lipid metabolism; fatty acid biosynthesis.

Gene Ontology (GO) - Biological Process for HACD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process IEA --
GO:0007249 I-kappaB kinase/NF-kappaB signaling TAS,IEA --
GO:0007254 JNK cascade IEA --
genes like me logo Genes that share ontologies with HACD3: view

No data available for SIGNOR curated interactions for HACD3 Gene

Drugs & Compounds for HACD3 Gene

(1) Drugs for HACD3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0

(1) Additional Compounds for HACD3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
genes like me logo Genes that share compounds with HACD3: view

Transcripts for HACD3 Gene

mRNA/cDNA for HACD3 Gene

1 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HACD3

Alternative Splicing Database (ASD) splice patterns (SP) for HACD3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b ^ 15 ^ 16
SP1: - - - - -
SP2:
SP3: - - - -
SP4: - - - - - -
SP5: - - - - - - -
SP6: - - -
SP7: - -

Relevant External Links for HACD3 Gene

GeneLoc Exon Structure for
HACD3

Expression for HACD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HACD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HACD3 Gene

This gene is overexpressed in Nasal epithelium (19.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HACD3 Gene



Protein tissue co-expression partners for HACD3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HACD3

mRNA Expression by UniProt/SwissProt for HACD3 Gene:

Q9P035-HACD3_HUMAN
Tissue specificity: Highly expressed in testis, kidney, brain, liver and weakly in skeletal muscle, spleen and heart. No expression detected in leukocytes.

Evidence on tissue expression from TISSUES for HACD3 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Intestine(4.5)
  • Eye(4.4)
  • Blood(4.4)
  • Pancreas(3.4)
  • Kidney(2.8)
  • Skin(2.7)
  • Lung(2.6)
  • Spleen(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with HACD3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HACD3 Gene

Orthologs for HACD3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HACD3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PTPLAD1 30 31
  • 99.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PTPLAD1 30 31
  • 91.9 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PTPLAD1 30 31
  • 90.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ptplad1 30
  • 88.21 (n)
Mouse
(Mus musculus)
Mammalia Ptplad1 30 31
  • 88.12 (n)
OneToOne
Hacd3 17
Oppossum
(Monodelphis domestica)
Mammalia PTPLAD1 31
  • 61 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PTPLAD1 31
  • 49 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PTPLAD1 30 31
  • 71.38 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PTPLAD1 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ptplad1 30
  • 66.67 (n)
Str.697 30
Zebrafish
(Danio rerio)
Actinopterygii ptplad1 30 31
  • 66.67 (n)
OneToOne
zgc63632 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG9267 30 31
  • 46.87 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PHS1 31
  • 24 (a)
OneToMany
SBA1 33
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3155 31
  • 30 (a)
OneToMany
Species where no ortholog for HACD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for HACD3 Gene

ENSEMBL:
Gene Tree for HACD3 (if available)
TreeFam:
Gene Tree for HACD3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HACD3: view image

Paralogs for HACD3 Gene

Paralogs for HACD3 Gene

genes like me logo Genes that share paralogs with HACD3: view

Variants for HACD3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HACD3 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs11632737 - p.Glu56Lys
rs2279854 - p.Met269Leu

Additional dbSNP identifiers (rs#s) for HACD3 Gene

Structural Variations from Database of Genomic Variants (DGV) for HACD3 Gene

Variant ID Type Subtype PubMed ID
nsv569787 CNV loss 21841781
nsv833042 CNV loss 17160897

Variation tolerance for HACD3 Gene

Residual Variation Intolerance Score: 59.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.21; 62.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HACD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HACD3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HACD3 Gene

Disorders for HACD3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HACD3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinocerebellar ataxia 34
  • sca34
- elite association - COSMIC cancer census association via MalaCards
Search HACD3 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with HACD3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HACD3 Gene

Publications for HACD3 Gene

  1. B-ind1, a novel mediator of Rac1 signaling cloned from sodium butyrate-treated fibroblasts. (PMID: 10747961) Courilleau D … Mester J (The Journal of biological chemistry 2000) 2 3 4 23
  2. Characterization of four mammalian 3-hydroxyacyl-CoA dehydratases involved in very long-chain fatty acid synthesis. (PMID: 18554506) Ikeda M … Kihara A (FEBS letters 2008) 2 3 4
  3. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4
  4. The last enzyme of the de novo purine synthesis pathway 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC) plays a central role in insulin signaling and the Golgi/endosomes protein network. (PMID: 25687571) Boutchueng-Djidjou M … Faure RL (Molecular & cellular proteomics : MCP 2015) 3 4
  5. Human B-ind1 gene promoter: cloning and regulation by histone deacetylase inhibitors. (PMID: 16516406) Sabbah M … Redeuilh G (Gene 2006) 3 4

Products for HACD3 Gene

Sources for HACD3 Gene