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Aliases for HACD3 Gene

Aliases for HACD3 Gene

  • 3-Hydroxyacyl-CoA Dehydratase 3 2 3 4 5
  • Protein-Tyrosine Phosphatase-Like A Domain-Containing Protein 1 3 4
  • Protein Tyrosine Phosphatase-Like A Domain Containing 1 2 3
  • Very-Long-Chain (3R)-3-Hydroxyacyl-CoA Dehydratase 3 2 3
  • Butyrate-Induced Protein 1 3 4
  • PTPLAD1 3 4
  • B-IND1 3 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
  • HSPC121 3
  • HB-Ind1 4

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. Among its related pathways are Fatty acid elongation and Metabolism. GO annotations related to this gene include enzyme binding and lyase activity. An important paralog of this gene is HACD4.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for HACD3 Gene

Genomics for HACD3 Gene

Regulatory Elements for HACD3 Gene

Enhancers for HACD3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H066502 1.4 ENCODE dbSUPER 10.4 +973.8 973800 4 PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B INTS14 TIPIN ENSG00000260773 SNAPC5 SNORD16 DIS3L RPL35AP32 ZWILCH RPL4 HACD3
GH15H065609 1.2 ENCODE 10.5 +81.0 80995 3 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 INTS14 PARP16 ENSG00000260773 SNORD16 PDCD7 RPL35AP32 ENSG00000264937 ENSG00000259635 SLC24A1 TIPIN
GH15H066495 1.2 ENCODE 10.4 +966.8 966791 3 HNRNPUL1 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ENSG00000260773 TIPIN SLC24A1 SNAPC5 RPL4 INTS14 ZWILCH HACD3 SNORD16 SMAD3
GH15H066459 1.1 Ensembl ENCODE 10.4 +930.9 930943 4 ZFP64 KLF17 ZNF138 FOS EGR2 ZNF202 ZNF654 ZNF680 ZC3H11A CEBPB INTS14 TIPIN ENSG00000260773 SNORD16 SNAPC5 SLC24A1 ZWILCH RPL35AP32 DIS3L LOC646358
GH15H065529 1.5 FANTOM5 ENCODE 6.1 +1.9 1852 4 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 FOS INTS14 SLC24A1 RNU5B-1 ENSG00000259346 RNU5A-1 HNRNPA1P44 ENSG00000239465 ENSG00000260773 DENND4A HACD3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HACD3 on UCSC Golden Path with GeneCards custom track

Promoters for HACD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000078095 482 1801 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 MXD4 JUNB

Genomic Location for HACD3 Gene

Chromosome:
15
Start:
65,530,418 bp from pter
End:
65,578,355 bp from pter
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; Positions=356; Evidence={ECO:0000305}; Sequence=BAC11249.1; Type=Frameshift; Positions=359; 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 posLast=9898
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HACD3 Gene

Domains & Families for HACD3 Gene

Gene Families for HACD3 Gene

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

Protein Domains for HACD3 Gene

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 BiophysicochemicalProperties:
Kinetic parameters: KM=49.5 uM for 3-hydroxypalmitoyl-CoA (at 37 degrees Celsius) {ECO:0000269 PubMed:18554506};
UniProtKB/Swiss-Prot CatalyticActivity:
A very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain trans-2,3-dehydroacyl-CoA + H(2)O.
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 Induction:
By AKAP12 and histone deacetylase inhibitors such as sodium butyrate.

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

miRNA for HACD3 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HACD3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
mitochondrion 5
nucleus 5
endoplasmic reticulum 5
cytosol 5
plasma membrane 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
  • Cytosol (1)
  • Mitochondria (1)
  • Nuclear membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HACD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005783 endoplasmic reticulum IDA,IEA 18554506
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005829 cytosol IDA --
GO:0005925 focal adhesion IDA 21423176
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
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with HACD3: view

Transcripts for HACD3 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HACD3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
HACD3

Expression for HACD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for HACD3 Gene



Protein tissue co-expression partners for HACD3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HACD3 Gene:

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(4.7)
  • Liver(4.5)
  • Eye(4.4)
  • Blood(4.3)
  • Intestine(4.3)
  • Pancreas(3.2)
  • Kidney(2.4)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with HACD3: view

Primer Products

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 33 34
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia PTPLAD1 33 34
  • 91.9 (n)
cow
(Bos Taurus)
Mammalia PTPLAD1 34 33
  • 90.61 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptplad1 33
  • 88.21 (n)
mouse
(Mus musculus)
Mammalia Ptplad1 33 34
  • 88.12 (n)
Hacd3 16
oppossum
(Monodelphis domestica)
Mammalia PTPLAD1 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTPLAD1 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTPLAD1 33 34
  • 71.38 (n)
lizard
(Anolis carolinensis)
Reptilia PTPLAD1 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptplad1 33
  • 66.67 (n)
Str.697 33
zebrafish
(Danio rerio)
Actinopterygii ptplad1 34 33
  • 66.67 (n)
OneToOne
zgc63632 33
fruit fly
(Drosophila melanogaster)
Insecta CG9267 33 34
  • 46.87 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PHS1 34
  • 24 (a)
OneToMany
SBA1 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3155 34
  • 30 (a)
OneToMany
Species where no ortholog for HACD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

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 from dbSNP and Humsavar for HACD3 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000040945 -- 65,543,335(+) TTTTC(-/T)TTTTT intron-variant
rs1000106249 -- 65,541,971(+) CACGC(C/T)TGTAA intron-variant
rs1000130740 -- 65,575,399(+) GCCAG(C/G)CTGGT intron-variant
rs1000224602 -- 65,536,378(+) TCTGA(C/T)TGCTC intron-variant
rs1000344699 -- 65,564,927(+) CTGTA(A/G)AATCA intron-variant

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)

Relevant External Links for HACD3 Gene

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

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

Disorders for HACD3 Gene

Relevant External Links for HACD3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HACD3

No disorders were found for HACD3 Gene.

No data available for MalaCards , 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 22 60
  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 60
  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 60
  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 60
  5. Human B-ind1 gene promoter: cloning and regulation by histone deacetylase inhibitors. (PMID: 16516406) Sabbah M … Redeuilh G (Gene 2006) 3 4 60

Products for HACD3 Gene

Sources for HACD3 Gene

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