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HTD2 hydroxyacyl-thioester dehydratase type 2 [ Homo sapiens (human) ]

Gene ID: 109703458, updated on 11-Apr-2024

Summary

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Official Symbol
HTD2provided by HGNC
Official Full Name
hydroxyacyl-thioester dehydratase type 2provided by HGNC
Primary source
HGNC:HGNC:53111
See related
Ensembl:ENSG00000255154 MIM:620769; AllianceGenome:HGNC:53111
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
Summary
This gene encodes a protein that localizes to the mitochondria and can function as a 3-hydroxyacyl thioester dehydratase. This gene is located just downstream of the gene for ribonuclease P/MRP subunit p14 (RPP14) in a genomic context that is conserved among animals. The upstream RPP14 gene is thought to be co-transcribed with this gene, and bicistronic transcripts may include open reading frames for both proteins. [provided by RefSeq, May 2017]
Orthologs
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Genomic context

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Location:
3p14.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (58306245..58320193)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (58346652..58360600)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (58291972..58305920)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20005 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:58202830-58203333 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:58203334-58203836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58222930-58223869 Neighboring gene abhydrolase domain containing 6, acylglycerol lipase Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:58276464-58277147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20009 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58298051-58298552 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:58307710-58308471 Neighboring gene ribonuclease P/MRP subunit p14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14488 Neighboring gene Sharpr-MPRA regulatory region 6112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20010 Neighboring gene uncharacterized LOC105377106 Neighboring gene PX domain containing serine/threonine kinase like Neighboring gene MPRA-validated peak4672 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr3:58363583-58363810 Neighboring gene WDR53 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Death of a dogma: eukaryotic mRNAs can code for more than one protein. Mouilleron H, et al. Nucleic Acids Res, 2016 Jan 8. PMID 26578573, Free PMC Article
  2. Direct detection of alternative open reading frames translation products in human significantly expands the proteome. Vanderperre B, et al. PLoS One, 2013. PMID 23950983, Free PMC Article
  3. An ancient genetic link between vertebrate mitochondrial fatty acid synthesis and RNA processing. Autio KJ, et al. FASEB J, 2008 Feb. PMID 17898086
  4. A draft map of the human proteome. Kim MS, et al. Nature, 2014 May 29. PMID 24870542, Free PMC Article
  5. The DNA sequence, annotation and analysis of human chromosome 3. Muzny DM, et al. Nature, 2006 Apr 27. PMID 16641997

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Genotypes

Pathways from PubChem

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General gene information

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Homology

Clone Names

  • FLJ18438

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables (3R)-3-hydroxydecanoyl-[acyl-carrier-protein] dehydratase activity IEA
Inferred from Electronic Annotation
more info
  
enables (3R)-hydroxyacyl-[acyl-carrier-protein] dehydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 3-hydroxyacyl-CoA dehydratase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in fatty-acyl-CoA biosynthetic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
hydroxyacyl-thioester dehydratase type 2, mitochondrial
Names
3-hydroxyacyl-[acyl-carrier-protein] dehydratase
NP_001335641.1
NP_001335642.1
NP_001335643.1
NP_001335644.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001348712.2 → NP_001335641.1  hydroxyacyl-thioester dehydratase type 2, mitochondrial

    Status: REVIEWED

    Source sequence(s)
    AC098479
    Consensus CDS
    CCDS87096.1
    UniProtKB/Swiss-Prot
    P86397
    UniProtKB/TrEMBL
    A0A024R310, L0R6P0
    Related
    ENSP00000484277.1, ENST00000461393.7
    Conserved Domains (1) summary
    cd03449
    Location:36 → 162
    R_hydratase; (R)-hydratase [(R)-specific enoyl-CoA hydratase] catalyzes the hydration of trans-2-enoyl CoA to (R)-3-hydroxyacyl-CoA as part of the PHA (polyhydroxyalkanoate) biosynthetic pathway. (R)-hydratase contains a hot-dog fold similar to those of thioesterase ...

  2. NM_001348713.1 → NP_001335642.1  hydroxyacyl-thioester dehydratase type 2, mitochondrial

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein.
    Source sequence(s)
    AC098479
    Consensus CDS
    CCDS87096.1
    UniProtKB/Swiss-Prot
    P86397
    UniProtKB/TrEMBL
    A0A024R310, L0R6P0
    Related
    ENSP00000481593.1, ENST00000477305.5
    Conserved Domains (1) summary
    cd03449
    Location:36 → 162
    R_hydratase; (R)-hydratase [(R)-specific enoyl-CoA hydratase] catalyzes the hydration of trans-2-enoyl CoA to (R)-3-hydroxyacyl-CoA as part of the PHA (polyhydroxyalkanoate) biosynthetic pathway. (R)-hydratase contains a hot-dog fold similar to those of thioesterase ...

  3. NM_001348714.1 → NP_001335643.1  hydroxyacyl-thioester dehydratase type 2, mitochondrial

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein.
    Source sequence(s)
    AC098479
    Consensus CDS
    CCDS87096.1
    UniProtKB/Swiss-Prot
    P86397
    UniProtKB/TrEMBL
    A0A024R310, L0R6P0
    Related
    ENSP00000482940.1, ENST00000481972.5
    Conserved Domains (1) summary
    cd03449
    Location:36 → 162
    R_hydratase; (R)-hydratase [(R)-specific enoyl-CoA hydratase] catalyzes the hydration of trans-2-enoyl CoA to (R)-3-hydroxyacyl-CoA as part of the PHA (polyhydroxyalkanoate) biosynthetic pathway. (R)-hydratase contains a hot-dog fold similar to those of thioesterase ...

  4. NM_001348715.1 → NP_001335644.1  hydroxyacyl-thioester dehydratase type 2, mitochondrial

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein.
    Source sequence(s)
    AC098479
    Consensus CDS
    CCDS87096.1
    UniProtKB/Swiss-Prot
    P86397
    UniProtKB/TrEMBL
    A0A024R310, L0R6P0
    Conserved Domains (1) summary
    cd03449
    Location:36 → 162
    R_hydratase; (R)-hydratase [(R)-specific enoyl-CoA hydratase] catalyzes the hydration of trans-2-enoyl CoA to (R)-3-hydroxyacyl-CoA as part of the PHA (polyhydroxyalkanoate) biosynthetic pathway. (R)-hydratase contains a hot-dog fold similar to those of thioesterase ...

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    58306245..58320193
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    58346652..58360600
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P86397.1 GenPept UniProtKB/Swiss-Prot:P86397

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