Details for: HACD1

Gene ID: 9200

Symbol: HACD1

Ensembl ID: ENSG00000165996

Description: 3-hydroxyacyl-CoA dehydratase 1

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 12.06
    Marker Score: 160,363
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 10.89
    Marker Score: 11,400
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 3.62
    Marker Score: 12,856
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 3.6
    Marker Score: 80,424
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 2.42
    Marker Score: 1,940
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 2.11
    Marker Score: 1,024
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.96
    Marker Score: 4,615
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 1.87
    Marker Score: 617
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 1.75
    Marker Score: 728
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 1.74
    Marker Score: 659
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.57
    Marker Score: 3,442
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 169,157
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.36
    Marker Score: 437
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 1.35
    Marker Score: 1,684
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.29
    Marker Score: 409
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.23
    Marker Score: 3,085
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.17
    Marker Score: 7,634
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 1.14
    Marker Score: 607
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.09
    Marker Score: 4,563
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.09
    Marker Score: 17,022
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.09
    Marker Score: 2,058
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.06
    Marker Score: 1,711
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 1.05
    Marker Score: 1,266
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.05
    Marker Score: 712
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251,773
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.03
    Marker Score: 1,152
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,406
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.97
    Marker Score: 641
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.97
    Marker Score: 3,978
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.97
    Marker Score: 340
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.97
    Marker Score: 541
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 496
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.96
    Marker Score: 321
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 449
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,410
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.94
    Marker Score: 445
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.94
    Marker Score: 681
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.92
    Marker Score: 2,331
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5,264
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.91
    Marker Score: 1,719
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,731
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.91
    Marker Score: 364
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 317
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,277
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.85
    Marker Score: 1,375
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.83
    Marker Score: 449
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.82
    Marker Score: 2,239
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.8
    Marker Score: 5,319
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.8
    Marker Score: 1,621
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.76
    Marker Score: 15,129
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.76
    Marker Score: 476
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.76
    Marker Score: 583
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.75
    Marker Score: 302
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 564
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.73
    Marker Score: 441
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.73
    Marker Score: 665
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.72
    Marker Score: 691
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.72
    Marker Score: 3,021
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.71
    Marker Score: 467
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.7
    Marker Score: 206
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.7
    Marker Score: 747
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.68
    Marker Score: 639
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 173
  • Cell Name: smooth muscle cell of small intestine (CL1000275)
    Fold Change: 0.66
    Marker Score: 174
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.66
    Marker Score: 24,954
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.65
    Marker Score: 3,896
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.64
    Marker Score: 408
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.64
    Marker Score: 206
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.64
    Marker Score: 268
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.64
    Marker Score: 285
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.61
    Marker Score: 3,594
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.59
    Marker Score: 5,558
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.58
    Marker Score: 154
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.58
    Marker Score: 319
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.57
    Marker Score: 146
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.57
    Marker Score: 810
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.57
    Marker Score: 593
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.57
    Marker Score: 299
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.57
    Marker Score: 149
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.56
    Marker Score: 275
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.56
    Marker Score: 4,778
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.55
    Marker Score: 197
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 437
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.55
    Marker Score: 135
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.53
    Marker Score: 5,377
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.53
    Marker Score: 2,146
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.52
    Marker Score: 372
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 0.52
    Marker Score: 677
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5
    Marker Score: 318
  • Cell Name: cord blood hematopoietic stem cell (CL2000095)
    Fold Change: 0.5
    Marker Score: 375
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.5
    Marker Score: 456
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.49
    Marker Score: 337
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.49
    Marker Score: 723
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.49
    Marker Score: 233
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.49
    Marker Score: 204
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.49
    Marker Score: 1,162
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.49
    Marker Score: 288
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.48
    Marker Score: 233
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 0.47
    Marker Score: 151
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.46
    Marker Score: 971

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** HACD1 is a member of the 3-hydroxyacyl-CoA dehydratase family, which is involved in the biosynthesis of very-long-chain fatty acyl-CoAs. This enzyme catalyzes the conversion of 3-hydroxyacyl-CoA to enoyl-CoA, a crucial step in the elongation of fatty acids. HACD1 is specifically expressed in cells that require high levels of fatty acid synthesis, such as cardiac muscle cells and thymocytes. **Pathways and Functions:** HACD1 is involved in several key pathways, including: 1. **Fatty acid elongation**: HACD1 plays a critical role in the elongation of fatty acids, particularly very-long-chain fatty acyl-CoAs. This process is essential for the synthesis of phospholipids, triglycerides, and other lipids that are crucial for cellular membrane structure and function. 2. **Fatty acid metabolism**: HACD1 is also involved in the regulation of fatty acid metabolism, including the breakdown of fatty acids for energy production. This process is critical for maintaining energy homeostasis and preventing metabolic disorders. 3. **Sphingolipid biosynthesis**: HACD1 has been implicated in the biosynthesis of sphingolipids, which are essential for maintaining cellular membrane structure and function. **Clinical Significance:** The dysregulation of HACD1 has been implicated in several diseases, including: 1. **Cardiovascular disease**: HACD1 has been shown to play a critical role in the development of cardiovascular disease, particularly in the context of cardiac muscle cell dysfunction. 2. **Immunological disorders**: HACD1 has been implicated in the regulation of immune cell function, particularly in the context of thymocyte development and function. 3. **Metabolic disorders**: HACD1 has been shown to play a critical role in the regulation of fatty acid metabolism, which is essential for maintaining energy homeostasis and preventing metabolic disorders. In conclusion, HACD1 is a critical enzyme that plays a pivotal role in the regulation of fatty acid metabolism. Its dysregulation has been implicated in several diseases, highlighting the need for further research into the mechanisms underlying HACD1 function and its role in human disease. **Recommendations:** Future research should focus on: 1. **Characterizing HACD1 function**: Further studies are needed to elucidate the mechanisms underlying HACD1 function and its regulation. 2. **Investigating HACD1 in disease models**: The use of disease models, such as mouse models and cell culture systems, will be essential for investigating the role of HACD1 in human disease. 3. **Developing therapeutic strategies**: The development of therapeutic strategies that target HACD1 will be critical for preventing and treating diseases associated with its dysregulation. By shedding light on the enigmatic role of HACD1, we can gain a deeper understanding of the mechanisms underlying fatty acid metabolism and its role in human disease, ultimately leading to the development of novel therapeutic strategies.

Genular Protein ID: 4249992023

Symbol: HACD1_HUMAN

Name: N/A

UniProtKB Accession Codes:

B0YJ81 B0YJ80 Q6JIC5 Q96FW7 Q9HB93 Q9UHX2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 21 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 13 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 13 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 1 RefSeq 1 Rhea 14 SABIO-RK 1 SAM 1 SIGNOR 1 STRING 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11054553

Title: Human protein tyrosine phosphatase-like gene: expression profile, genomic structure, and mutation analysis in families with ARVD.

PubMed ID: 11054553

DOI: 10.1016/s0378-1119(00)00347-4

PubMed ID: 10644438

Title: Molecular cloning, chromosomal mapping, and developmental expression of a novel protein tyrosine phosphatase-like gene.

PubMed ID: 10644438

DOI: 10.1006/geno.1999.5950

PubMed ID: 22067203

Title: Isolation of protein-tyrosine phosphatase-like member-a variant from cementum.

PubMed ID: 22067203

DOI: 10.1177/0022034511428155

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18554506

Title: Characterization of four mammalian 3-hydroxyacyl-CoA dehydratases involved in very long-chain fatty acid synthesis.

PubMed ID: 18554506

DOI: 10.1016/j.febslet.2008.06.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 25263524

Title: Human recombinant cementum attachment protein (hrPTPLa/CAP) promotes hydroxyapatite crystal formation in vitro and bone healing in vivo.

PubMed ID: 25263524

DOI: 10.1016/j.bone.2014.09.014

PubMed ID: 23933735

Title: Congenital myopathy is caused by mutation of HACD1.

PubMed ID: 23933735

DOI: 10.1093/hmg/ddt380

PubMed ID: 32426512

Title: Biallelic LINE insertion mutation in HACD1 causing congenital myopathy.

PubMed ID: 32426512

DOI: 10.1212/nxg.0000000000000423

PubMed ID: 33354762

Title: Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.

PubMed ID: 33354762

DOI: 10.1111/cge.13905

Sequence Information:

  • Length: 288
  • Mass: 32388
  • Checksum: 1CB64F23C3907F6E
  • Sequence:
    • MGRLTEAAAA GSGSRAAGWA GSPPTLLPLS PTSPRCAATM ASSDEDGTNG GASEAGEDRE 
APGERRRLGV LATAWLTFYD IAMTAGWLVL AIAMVRFYME KGTHRGLYKS IQKTLKFFQT 
FALLEIVHCL IGIVPTSVIV TGVQVSSRIF MVWLITHSIK PIQNEESVVL FLVAWTVTEI 
TRYSFYTFSL LDHLPYFIKW ARYNFFIILY PVGVAGELLT IYAALPHVKK TGMFSIRLPN 
KYNVSFDYYY FLLITMASYI PLFPQLYFHM LRQRRKVLHG EVIVEKDD

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.