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

Gene ID: 9524, updated on 7-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (14527726..14565980)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (14654487..14692721)
105.20220307 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. 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
  3. 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
  4. Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade. Moon YA, et al. J Biol Chem, 2003 Feb 28. PMID 12482854
  5. Lysosomal protein transmembrane 5 promotes lung-specific metastasis by regulating BMPR1A lysosomal degradation. Jiang B, et al. Nat Commun, 2022 Jul 16. PMID 35842443, Free PMC Article

See all (131) 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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_2023_10

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

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