Details for: HACD1

Gene ID: 9200

Symbol: HACD1

Ensembl ID: ENSG00000165996

Description: 3-hydroxyacyl-CoA dehydratase 1

Associated with

Other Information

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.