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Aliases for HACD1 Gene

Aliases for HACD1 Gene

  • 3-Hydroxyacyl-CoA Dehydratase 1 2 3 4
  • PTPLA 3 4 6
  • Protein Tyrosine Phosphatase-Like (Proline Instead Of Catalytic Arginine), Member A 2 3
  • Cementum Attachment Protein 2 3
  • Cementum-Attachment Protein 3 4
  • CAP 3 4
  • Very-Long-Chain (3R)-3-Hydroxyacyl-[Acyl-Carrier Protein] Dehydratase 1 3
  • Very-Long-Chain (3R)-3-Hydroxyacyl-CoA Dehydratase 1 3
  • Protein-Tyrosine Phosphatase-Like Member A 4
  • EC 4.2.1.134 4

External Ids for HACD1 Gene

Previous HGNC Symbols for HACD1 Gene

  • PTPLA

Summaries for HACD1 Gene

Entrez Gene Summary for HACD1 Gene

  • The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008]

GeneCards Summary for HACD1 Gene

HACD1 (3-Hydroxyacyl-CoA Dehydratase 1) is a Protein Coding gene. Among its related pathways are Beta-Adrenergic Signaling and EphB-EphrinB Signaling. An important paralog of this gene is HACD4.

UniProtKB/Swiss-Prot for HACD1 Gene

  • Isoform 1: 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 to the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.

  • Isoform 2: In tooth development, may play a role in the recruitment and the differentiation of cells that participate to cementum formation. May also bind hydroxyapatite and regulate its crystal nucleation to form cementum.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HACD1 Gene

Genomics for HACD1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HACD1 Gene

Start:
17,589,032 bp from pter
End:
17,617,384 bp from pter
Size:
28,353 bases
Orientation:
Minus strand

Genomic View for HACD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HACD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HACD1 Gene

No data available for Regulatory Elements for HACD1 Gene

Proteins for HACD1 Gene

  • Protein details for HACD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B0YJ81-HACD1_HUMAN
    Recommended name:
    Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1
    Protein Accession:
    B0YJ81
    Secondary Accessions:
    • B0YJ80
    • Q6JIC5
    • Q96FW7
    • Q9HB93
    • Q9UHX2

    Protein attributes for HACD1 Gene

    Size:
    288 amino acids
    Molecular mass:
    32388 Da
    Quaternary structure:
    • Isoform 1: 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). Isoform 2: Homooligomer. Self-assembles into spheres which then aggregates to form strings and a meshwork that may support hydroxyapatite crystal nucleation (PubMed:25263524).
    SequenceCaution:
    • Sequence=AAG10713.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=ACA06059.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for HACD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HACD1 Gene

Proteomics data for HACD1 Gene at MOPED

Post-translational modifications for HACD1 Gene

Other Protein References for HACD1 Gene

No data available for DME Specific Peptides for HACD1 Gene

Domains for HACD1 Gene

Protein Domains for HACD1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

B0YJ81

UniProtKB/Swiss-Prot:

HACD1_HUMAN :
  • B0YJ81
Family:
  • Belongs to the very long-chain fatty acids dehydratase HACD family.
genes like me logo Genes that share domains with HACD1: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for HACD1 Gene

Function for HACD1 Gene

Molecular function for HACD1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=33.6 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: Isoform 1: 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 to the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.
UniProtKB/Swiss-Prot Function: Isoform 2: In tooth development, may play a role in the recruitment and the differentiation of cells that participate to cementum formation. May also bind hydroxyapatite and regulate its crystal nucleation to form cementum.

Enzyme Numbers (IUBMB) for HACD1 Gene

Gene Ontology (GO) - Molecular Function for HACD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004725 protein tyrosine phosphatase activity --
GO:0016829 lyase activity IEA --
GO:0018812 3-hydroxyacyl-CoA dehydratase activity IDA 18554506
GO:0019899 enzyme binding IDA 18554506
GO:0046848 hydroxyapatite binding IDA 22067203
genes like me logo Genes that share ontologies with HACD1: view

miRNA for HACD1 Gene

miRTarBase miRNAs that target HACD1

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for HACD1 Gene

Localization for HACD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HACD1 Gene

Isoform 1: Endoplasmic reticulum membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for HACD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 18554506
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HACD1: view

No data available for Subcellular locations from COMPARTMENTS for HACD1 Gene

Pathways for HACD1 Gene

genes like me logo Genes that share pathways with HACD1: view

Pathways by source for HACD1 Gene

UniProtKB/Swiss-Prot B0YJ81-HACD1_HUMAN

  • Pathway: Lipid metabolism; fatty acid biosynthesis.

Interacting Proteins for HACD1 Gene

Gene Ontology (GO) - Biological Process for HACD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation --
GO:0006633 fatty acid biosynthetic process IEA --
GO:0007165 signal transduction --
GO:0007275 multicellular organismal development IEA --
GO:0010389 regulation of G2/M transition of mitotic cell cycle IEA --
genes like me logo Genes that share ontologies with HACD1: view

Transcripts for HACD1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HACD1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HACD1 Gene

No ASD Table

Relevant External Links for HACD1 Gene

GeneLoc Exon Structure for
HACD1
ECgene alternative splicing isoforms for
HACD1

Expression for HACD1 Gene

mRNA expression in normal human tissues for HACD1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HACD1 Gene

mRNA Expression by UniProt/SwissProt for HACD1 Gene

B0YJ81-HACD1_HUMAN
Tissue specificity: Isoform 1 is highly expressed in the myocardium, and to a lesser extent in skeletal and smooth muscular tissues including those from stomach, jejunum, and bladder. Also detected in gingival fibroblasts, periodontal ligament cells, osteoblasts and cementoblasts (PubMed:11054553, PubMed:22067203). Isoform 2 is specifically expressed by cementoblasts but also detected in periodontal ligament cells, heart, liver and kidney (at protein level) (PubMed:22067203).
genes like me logo Genes that share expressions with HACD1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HACD1 Gene

Orthologs for HACD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HACD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTPLA 35
  • 98.61 (n)
  • 97.56 (a)
PTPLA 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PTPLA 35
  • 92.25 (n)
  • 90.97 (a)
PTPLA 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTPLA 35
  • 94.38 (n)
  • 95.58 (a)
PTPLA 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ptpla 35
  • 88.71 (n)
  • 92.74 (a)
Ptpla 16
Ptpla 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTPLA 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTPLA 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptpla 35
  • 89.92 (n)
  • 93.55 (a)
chicken
(Gallus gallus)
Aves PTPLA 35
  • 74.59 (n)
  • 71.7 (a)
PTPLA 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTPLA 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptpla 35
  • 75.42 (n)
  • 79.58 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9219 35
zebrafish
(Danio rerio)
Actinopterygii LOC553326 35
  • 72.04 (n)
  • 75.62 (a)
PTPLA 36
  • 74 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003815 35
  • 43.43 (n)
  • 38.99 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6746 36
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hpo-8 36
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PHS1 35
  • 46.74 (n)
  • 36.08 (a)
PHS1 36
  • 33 (a)
OneToMany
PHS1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F14146g 35
  • 48.11 (n)
  • 36.08 (a)
rice
(Oryza sativa)
Liliopsida Os01g0150500 35
  • 47.25 (n)
  • 37.86 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC19C2.15c 35
  • 49.33 (n)
  • 37.33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.263 36
  • 43 (a)
OneToMany
Species with no ortholog for HACD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)

Evolution for HACD1 Gene

ENSEMBL:
Gene Tree for HACD1 (if available)
TreeFam:
Gene Tree for HACD1 (if available)

Paralogs for HACD1 Gene

Paralogs for HACD1 Gene

genes like me logo Genes that share paralogs with HACD1: view

Variants for HACD1 Gene

Sequence variations from dbSNP and Humsavar for HACD1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs1053926 -- 17,594,310(-) TGCCG(C/T)ATGTG reference, missense, downstream-variant-500B
rs1892338 -- 17,588,621(-) GATTA(A/G)GTTAC downstream-variant-500B
rs1937351 -- 17,592,087(+) AGTGA(C/T)TTTCC intron-variant
rs1937352 -- 17,593,649(+) AGCCT(C/T)ACCAA intron-variant
rs2252808 -- 17,603,815(+) ATTGG(C/T)ATTCA intron-variant

Relevant External Links for HACD1 Gene

HapMap Linkage Disequilibrium report
HACD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for HACD1 Gene

Disorders for HACD1 Gene

UniProtKB/Swiss-Prot

HACD1_HUMAN
  • Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. {ECO:0000269 PubMed:23933735}. Note=The gene represented in this entry may be involved in disease pathogenesis. A loss-of-function mutation that segregates with the disease was found in four members of a consanguineous family and not identified in unaffected controls. The mutation affects the expression of the mRNA and the produced protein is catalytically inactive. {ECO:0000269 PubMed:23933735}.

No disorders were found for HACD1 Gene.

Publications for HACD1 Gene

  1. Molecular cloning, chromosomal mapping, and developmental expression of a novel protein tyrosine phosphatase-like gene. (PMID: 10644438) Uwanogho D.A. … Sharpe P.T. (Genomics 1999) 2 3 4 23
  2. Human protein tyrosine phosphatase-like gene: expression profile, genomic structure, and mutation analysis in families with ARVD. (PMID: 11054553) Li D. … Roberts R. (Gene 2000) 3 4 23
  3. Characterization of four mammalian 3-hydroxyacyl-CoA dehydratases involved in very long-chain fatty acid synthesis. (PMID: 18554506) Ikeda M. … Kihara A. (FEBS Lett. 2008) 2 3 4
  4. Congenital myopathy is caused by mutation of HACD1. (PMID: 23933735) Muhammad E. … Parvari R. (Hum. Mol. Genet. 2013) 2 3 4
  5. Human recombinant cementum attachment protein (hrPTPLa/CAP) promotes hydroxyapatite crystal formation in vitro and bone healing in vivo. (PMID: 25263524) Montoya G. … Arzate H. (Bone 2014) 3 4

Products for HACD1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate HACD1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for HACD1
    • Block miRNA regulation of HACD1 using miScript Target Protectors

    Sources for HACD1 Gene

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