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    HACD1 3-hydroxyacyl-CoA dehydratase 1 [ Homo sapiens (human) ]

    Gene ID: 9200, updated on 11-Apr-2024

    Summary

    Official Symbol
    HACD1provided by HGNC
    Official Full Name
    3-hydroxyacyl-CoA dehydratase 1provided by HGNC
    Primary source
    HGNC:HGNC:9639
    See related
    Ensembl:ENSG00000165996 MIM:610467; AllianceGenome:HGNC:9639
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAP; MYONP; PTPLA; CMYP11
    Summary
    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]
    Expression
    Broad expression in heart (RPKM 20.1), prostate (RPKM 5.4) and 14 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    10p12.33
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (17589032..17617374, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (17607536..17635876, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (17631031..17659373, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376437 Neighboring gene Sharpr-MPRA regulatory region 15274 Neighboring gene Sharpr-MPRA regulatory region 12998 Neighboring gene PRP38 domain containing A pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2183 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:17664851-17665073 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:17685104-17685752 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:17685753-17686402 Neighboring gene STAM divergent transcript Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:17713088-17713842 Neighboring gene signal transducing adaptor molecule Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:17715682-17716218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:17728822-17729322

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-hydroxyacyl-CoA dehydratase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables 3-hydroxyacyl-CoA dehydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in fatty acid elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in long-chain fatty-acyl-CoA biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in sphingolipid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in very long-chain fatty acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1
    Names
    cementum attachment protein
    protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A
    very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 1
    NP_055056.3
    XP_005252698.1
    XP_054223116.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_041789.1 RefSeqGene

      Range
      5001..33343
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014241.4NP_055056.3  very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1

      See identical proteins and their annotated locations for NP_055056.3

      Status: REVIEWED

      Source sequence(s)
      AC069542, AW022173, AY455942, BC010353
      Consensus CDS
      CCDS7121.1
      UniProtKB/Swiss-Prot
      B0YJ80, B0YJ81, Q6JIC5, Q96FW7, Q9HB93, Q9UHX2
      Related
      ENSP00000355308.3, ENST00000361271.8
      Conserved Domains (1) summary
      pfam04387
      Location:119278
      PTPLA; Protein tyrosine phosphatase-like protein, PTPLA

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      17589032..17617374 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005252641.5XP_005252698.1  very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 isoform X1

      Conserved Domains (1) summary
      pfam04387
      Location:125242
      PTPLA; Protein tyrosine phosphatase-like protein, PTPLA

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      17607536..17635876 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367141.1XP_054223116.1  very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 isoform X1