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Aliases for HACD1 Gene

Aliases for HACD1 Gene

  • 3-Hydroxyacyl-CoA Dehydratase 1 2 3 4 5
  • Protein Tyrosine Phosphatase-Like (Proline Instead Of Catalytic Arginine), Member A 2 2 3
  • Very-Long-Chain (3R)-3-Hydroxyacyl-CoA Dehydratase 1 2 3
  • Cementum Attachment Protein 2 3
  • PTPLA 3 4
  • CAP 3 4
  • Very-Long-Chain (3R)-3-Hydroxyacyl-[Acyl-Carrier Protein] Dehydratase 1 3
  • Protein-Tyrosine Phosphatase-Like Member A 4
  • Cementum-Attachment Protein 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. Diseases associated with HACD1 include Congenital Fiber-Type Disproportion and Myopathy, Congenital, With Fiber-Type Disproportion. Among its related pathways are Fatty Acyl-CoA Biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include enzyme binding and lyase activity. An important paralog of this gene is HACD2.

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 in 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 contribute to cementum formation. May also bind hydroxyapatite and regulate its crystal nucleation to form cementum.

Additional gene information for HACD1 Gene

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

Genomics for HACD1 Gene

GeneHancer (GH) Regulatory Elements for HACD1 Gene

Promoters and enhancers for HACD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J017616 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.1 109 2.2 PKNOX1 ARNT ARID4B SIN3A ZNF2 YY1 ETS1 GLIS2 SP3 YY2 HACD1 TMEM236 VIM ENSG00000280126
GH10J017642 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 11.1 -29.8 -29765 9.6 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 STAM LOC105376438 HACD1 STAM-AS1 GC10P017641
GH10J017654 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -38.8 -38842 2.5 HDGF FOXA2 IRF4 TCF12 ZNF207 FOS ATF7 RUNX3 NCOA1 JUNB STAM HACD1 ST8SIA6 LOC105376438
GH10J017672 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.3 -56.3 -56256 2.4 PKNOX1 FOXA2 ARID4B KLF17 SIN3A RAD21 ETS1 ZNF335 SMARCC2 RCOR1 STAM HACD1 LOC105376438
GH10J017508 Enhancer 1.2 Ensembl ENCODE 11 +106.0 105971 5.2 HDGF PKNOX1 SMAD1 ARNT IRF4 GTF3C2 TCF12 ZNF121 GATA2 FOS ST8SIA6 HACD1 LOC105376438 GC10M017482 PRPF38AP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HACD1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for HACD1 Gene

Genomic Locations for HACD1 Gene
chr10:17,589,032-17,617,390
(GRCh38/hg38)
Size:
28,359 bases
Orientation:
Minus strand
chr10:17,631,958-17,659,376
(GRCh37/hg19)
Size:
27,419 bases
Orientation:
Minus strand

Genomic View for HACD1 Gene

Genes around HACD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HACD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HACD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for HACD1 Gene

Other Protein References for HACD1 Gene

No data available for DME Specific Peptides for HACD1 Gene

Domains & Families for HACD1 Gene

Gene Families for HACD1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for HACD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HACD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

B0YJ81

UniProtKB/Swiss-Prot:

HACD1_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 HACD1: view

Function for HACD1 Gene

Molecular function for HACD1 Gene

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 in 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 contribute to cementum formation. May also bind hydroxyapatite and regulate its crystal nucleation to form cementum.
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 BiophysicochemicalProperties:
Kinetic parameters: KM=33.6 uM for 3-hydroxypalmitoyl-CoA (at 37 degrees Celsius) {ECO:0000269 PubMed:18554506};

Enzyme Numbers (IUBMB) for HACD1 Gene

Gene Ontology (GO) - Molecular Function for HACD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016829 lyase activity IEA --
GO:0018812 3-hydroxyacyl-CoA dehydratase activity IBA --
GO:0080023 3R-hydroxyacyl-CoA dehydratase activity EXP 18554506
GO:0102158 very-long-chain 3-hydroxyacyl-CoA dehydratase activity IEA --
GO:0102343 3-hydroxy-arachidoyl-CoA dehydratase activity IEA --
genes like me logo Genes that share ontologies with HACD1: view
genes like me logo Genes that share phenotypes with HACD1: view

Human Phenotype Ontology for HACD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HACD1 Gene

MGI Knock Outs for HACD1:

Animal Model Products

miRNA for HACD1 Gene

miRTarBase miRNAs that target HACD1

Clone Products

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets 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.

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 HACD1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HACD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane IBA --
genes like me logo Genes that share ontologies with HACD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HACD1 Gene

Pathways & Interactions for HACD1 Gene

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

UniProtKB/Swiss-Prot B0YJ81-HACD1_HUMAN

  • Pathway: Lipid metabolism; fatty acid biosynthesis.

Gene Ontology (GO) - Biological Process for HACD1 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:0007275 multicellular organism development IEA --
GO:0030148 sphingolipid biosynthetic process IBA --
genes like me logo Genes that share ontologies with HACD1: view

No data available for SIGNOR curated interactions for HACD1 Gene

Drugs & Compounds for HACD1 Gene

(1) Drugs for HACD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
genes like me logo Genes that share compounds with HACD1: view

Transcripts for HACD1 Gene

mRNA/cDNA for HACD1 Gene

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for HACD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HACD1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (50.6) and Heart (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HACD1 Gene



Protein tissue co-expression partners for HACD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HACD1 Gene:

HACD1

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).

Evidence on tissue expression from TISSUES for HACD1 Gene

  • Muscle(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HACD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • chest wall
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • stomach
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with HACD1: view

No data available for 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 34 33
  • 98.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PTPLA 34 33
  • 94.38 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTPLA 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PTPLA 34 33
  • 92.25 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptpla 33
  • 89.92 (n)
mouse
(Mus musculus)
Mammalia Ptpla 34 33
  • 88.71 (n)
OneToOne
Hacd1 16
platypus
(Ornithorhynchus anatinus)
Mammalia PTPLA 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTPLA 34 33
  • 74.59 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTPLA 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptpla 33
  • 75.42 (n)
zebrafish
(Danio rerio)
Actinopterygii PTPLA 34
  • 74 (a)
OneToOne
LOC553326 33
  • 72.04 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9219 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003815 33
  • 43.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6746 34
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hpo-8 34
  • 40 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F14146g 33
  • 48.11 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PHS1 36 34 33
  • 46.74 (n)
rice
(Oryza sativa)
Liliopsida Os01g0150500 33
  • 47.25 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC19C2.15c 33
  • 49.33 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.263 34
  • 43 (a)
OneToMany
Species where no ortholog for HACD1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HACD1: view image

Paralogs for HACD1 Gene

Paralogs for HACD1 Gene

Pseudogenes.org Pseudogenes 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 Variation AA Info Type
rs606231257 uncertain-significance, not provided 17,594,245(-) G/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, stop_gained
rs864309602 uncertain-significance, not specified 17,617,197(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000146070 -- 17,612,042(-) G/A intron_variant
rs1000357983 -- 17,606,875(-) C/G intron_variant
rs1000523938 -- 17,591,541(-) G/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HACD1 Gene

Variant ID Type Subtype PubMed ID
esv1789699 CNV insertion 17803354
esv2669454 CNV deletion 23128226
esv3578665 CNV loss 25503493
esv3622493 CNV loss 21293372

Variation tolerance for HACD1 Gene

Residual Variation Intolerance Score: 70.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.18; 80.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HACD1 Gene

Human Gene Mutation Database (HGMD)
HACD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HACD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HACD1 Gene

Disorders for HACD1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for HACD1 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search HACD1 in MalaCards View complete list of genes associated with diseases

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}.

Additional Disease Information for HACD1

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

No data available for Genatlas 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 DA … Sharpe PT (Genomics 1999) 2 3 4 22 58
  2. Congenital myopathy is caused by mutation of HACD1. (PMID: 23933735) Muhammad E … Parvari R (Human molecular genetics 2013) 2 3 4 58
  3. 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 58
  4. 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 22 58
  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 58

Products for HACD1 Gene

Sources for HACD1 Gene

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