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    TECR trans-2,3-enoyl-CoA reductase [ Homo sapiens (human) ]

    Gene ID: 9524, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TECRprovided by HGNC
    Official Full Name
    trans-2,3-enoyl-CoA reductaseprovided by HGNC
    Primary source
    HGNC:HGNC:4551
    See related
    Ensembl:ENSG00000099797 MIM:610057; AllianceGenome:HGNC:4551
    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
    SC2; TER; GPSN2; MRT14
    Summary
    This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011]
    Expression
    Ubiquitous expression in esophagus (RPKM 95.3), skin (RPKM 93.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TECR in Genome Data Viewer
    Location:
    19p13.12
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (14527726..14565980)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (14654487..14692721)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (14640372..14676792)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14586151-14586819 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:14587236-14587718 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14589159-14589674 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14590760-14591354 Neighboring gene prostaglandin E receptor 1 Neighboring gene GIPC PDZ domain containing family member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14606254-14607180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10255 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14608461-14608960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10257 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:14630503-14631232 Neighboring gene DnaJ heat shock protein family (Hsp40) member B1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14640150-14640734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14172 Neighboring gene microRNA 639 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14662493-14662992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14666446-14667327 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14667328-14668208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14673655-14674462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14676079-14676885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14173 Neighboring gene NADH:ubiquinone oxidoreductase subunit B7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14174 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:14693526-14693669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14175 Neighboring gene RNA, 7SL, cytoplasmic 337, pseudogene Neighboring gene C-type lectin domain containing 17A

    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. Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Çalışkan M, et al. Hum Mol Genet, 2011 Apr 1. PMID 21212097, Free PMC Article
    2. Catalytic mechanism of trans-2-enoyl-CoA reductases in the fatty acid elongation cycle and its cooperative action with fatty acid elongases. Kato R, et al. J Biol Chem, 2024 Feb. PMID 38224948, Free PMC Article
    3. The 3-hydroxyacyl-CoA dehydratase 1/2 form complex with trans-2-enoyl-CoA reductase involved in substrates transfer in very long chain fatty acid elongation. Zhou Y, et al. Biochem Biophys Res Commun, 2024 Apr 16. PMID 38422897
    4. Dual functions of the trans-2-enoyl-CoA reductase TER in the sphingosine 1-phosphate metabolic pathway and in fatty acid elongation. Wakashima T, et al. J Biol Chem, 2014 Sep 5. PMID 25049234, Free PMC Article
    5. Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile. Abe K, et al. J Biol Chem, 2013 Dec 20. PMID 24220030, Free PMC Article

    See all (162) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The 3-hydroxyacyl-CoA dehydratase 1/2 form complex with trans-2-enoyl-CoA reductase involved in substrates transfer in very long chain fatty acid elongation.
      Title: The 3-hydroxyacyl-CoA dehydratase 1/2 form complex with trans-2-enoyl-CoA reductase involved in substrates transfer in very long chain fatty acid elongation.
    2. Catalytic mechanism of trans-2-enoyl-CoA reductases in the fatty acid elongation cycle and its cooperative action with fatty acid elongases.
      Title: Catalytic mechanism of trans-2-enoyl-CoA reductases in the fatty acid elongation cycle and its cooperative action with fatty acid elongases.
    3. Data indicate that trans-2-enoyl-CoA reductase TER is involved in both very long-chain fatty acids (VLCFAs) synthesis and sphingosine degradation within sphingolipids.
      Title: Dual functions of the trans-2-enoyl-CoA reductase TER in the sphingosine 1-phosphate metabolic pathway and in fatty acid elongation.
    4. P182L mutation reduces the activity and stability of the TECR enzyme.
      Title: Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile.
    5. Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
      Title: Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
    6. Observational study of genetic testing. (HuGE Navigator)
      Title: A flexible array format for large-scale, rapid blood group DNA typing.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Intellectual disability, autosomal recessive 14
    MedGen: C3151462 OMIM: 614020 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of trans-2,3-enoyl-CoA reductase (TECR) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables oxidoreductase 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 enoyl-CoA reductase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables very-long-chain enoyl-CoA reductase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables very-long-chain fatty acyl-CoA dehydrogenase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in fatty acid elongation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in long-chain fatty-acyl-CoA biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in sphingolipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sphingolipid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in very long-chain fatty acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in very long-chain fatty acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in very long-chain fatty acid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    very-long-chain enoyl-CoA reductase
    Names
    epididymis secretory sperm binding protein
    glycoprotein, synaptic 2
    synaptic glycoprotein SC2
    NP_001308099.1
    NP_612510.1
    XP_006723008.1
    XP_011526744.1
    XP_047295693.1
    XP_054178691.1
    XP_054178692.1

    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.

    Genomic

    1. NG_028336.1 RefSeqGene

      Range
      5028..41414
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001321170.1 → NP_001308099.1  very-long-chain enoyl-CoA reductase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AK094087, BC013881, DB491783
      UniProtKB/TrEMBL
      B3KM97, B3KSQ1
      Conserved Domains (1) summary
      PLN02560
      Location:38 → 320
      PLN02560; enoyl-CoA reductase

    2. NM_138501.6 → NP_612510.1  very-long-chain enoyl-CoA reductase isoform 1

      See identical proteins and their annotated locations for NP_612510.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      BC007801, DB491783
      Consensus CDS
      CCDS12313.1
      UniProtKB/Swiss-Prot
      B2RD55, O75350, Q6IBB2, Q9BWK3, Q9NZ01, Q9Y6P0
      UniProtKB/TrEMBL
      B3KM97
      Related
      ENSP00000215567.4, ENST00000215567.10
      Conserved Domains (1) summary
      PLN02560
      Location:23 → 305
      PLN02560; enoyl-CoA reductase

    RNA

    1. NR_038103.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate acceptor splice site at an internal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC009004, AC010527, AC024585
      Related
      ENST00000642961.1

    2. NR_038104.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate acceptor splice site at an internal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC009004, AC010527, AC024585
      Related
      ENST00000600083.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      14527726..14565980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439737.1 → XP_047295693.1  very-long-chain enoyl-CoA reductase isoform X3

      UniProtKB/TrEMBL
      B4DR74
      Related
      ENSP00000472957.1, ENST00000601187.1

    2. XM_011528442.3 → XP_011526744.1  very-long-chain enoyl-CoA reductase isoform X2

      UniProtKB/TrEMBL
      B3KM97
      Conserved Domains (3) summary
      cd01801
      Location:27 → 102
      Tsc13_N; Ubiquitin-like domain of Tsc13
      PLN02560
      Location:44 → 326
      PLN02560; enoyl-CoA reductase
      cl21511
      Location:176 → 329
      PEMT; Phospholipid methyltransferase

    3. XM_006722945.3 → XP_006723008.1  very-long-chain enoyl-CoA reductase isoform X1

      UniProtKB/TrEMBL
      B3KM97
      Conserved Domains (3) summary
      cd01801
      Location:47 → 114
      Tsc13_N; Ubiquitin-like domain of Tsc13
      PLN02560
      Location:55 → 338
      PLN02560; enoyl-CoA reductase
      cl21511
      Location:188 → 341
      PEMT; Phospholipid methyltransferase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      14654487..14692721
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322717.1 → XP_054178692.1  very-long-chain enoyl-CoA reductase isoform X2

    2. XM_054322716.1 → XP_054178691.1  very-long-chain enoyl-CoA reductase isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_004868.1: Suppressed sequence

      Description
      NM_004868.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NZ01.1 GenPept UniProtKB/Swiss-Prot:Q9NZ01

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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