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

Gene ID: 253017, updated on 1-Jun-2020

Summary

Official Symbol
TECRLprovided by HGNC
Official Full Name
trans-2,3-enoyl-CoA reductase likeprovided by HGNC
Primary source
HGNC:HGNC:27365
See related
Ensembl:ENSG00000205678 MIM:617242
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
TERL; CPVT3; GPSN2L; SRD5A2L2
Summary
The protein encoded by this gene contains a ubiquitin-like domain in the N-terminal region, three transmembrane segments and a C-terminal 3-oxo-5-alpha steroid 4-dehydrogenase domain. The protein belongs to the steroid 5-alpha reductase family. Mutations in this gene result in ventricular tachycardia, catecholaminergic polymorphic, 3. [provided by RefSeq, Apr 2017]
Expression
Restricted expression toward heart (RPKM 117.5) See more
Orthologs

Genomic context

See TECRL in Genome Data Viewer
Location:
4q13.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (64276298..64409510, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (65142024..65275196, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377253 Neighboring gene uncharacterized LOC105377254 Neighboring gene RNA, U6 small nuclear 191, pseudogene Neighboring gene DPP3 pseudogene 1 Neighboring gene MT-CO3 pseudogene 27

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?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.
NHGRI GWA Catalog
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
NHGRI GWA Catalog
Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC62104

Gene Ontology Provided by GOA

Function Evidence Code Pubs
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity, acting on the CH-CH group of donors IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
very long-chain fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
trans-2,3-enoyl-CoA reductase-like
Names
glycoprotein, synaptic 2-like
steroid 5 alpha-reductase 2-like 2
steroid 5-alpha-reductase 2-like 2 protein

NCBI Reference Sequences (RefSeq)

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_053152.1 RefSeqGene

    Range
    5060..136808
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001010874.5NP_001010874.2  trans-2,3-enoyl-CoA reductase-like isoform 1

    See identical proteins and their annotated locations for NP_001010874.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC023156, AL833108, BX647590
    Consensus CDS
    CCDS33990.1
    UniProtKB/Swiss-Prot
    Q5HYJ1
    Related
    ENSP00000370607.3, ENST00000381210.8
    Conserved Domains (2) summary
    cl00155
    Location:62137
    UBQ; Ubiquitin-like proteins
    cl21511
    Location:212363
    PEMT; Phospholipid methyltransferase
  2. NM_001363796.1NP_001350725.1  trans-2,3-enoyl-CoA reductase-like isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC023110, AC023156
    Consensus CDS
    CCDS87229.1
    Related
    ENSP00000426043.1, ENST00000507440.5
    Conserved Domains (1) summary
    PLN02560
    Location:79322
    PLN02560; enoyl-CoA reductase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    64276298..64409510 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453961.1XP_024309729.1  trans-2,3-enoyl-CoA reductase-like isoform X5

    Conserved Domains (1) summary
    PLN02560
    Location:79307
    PLN02560; enoyl-CoA reductase
  2. XM_005265664.3XP_005265721.1  trans-2,3-enoyl-CoA reductase-like isoform X3

    Conserved Domains (2) summary
    PLN02560
    Location:79307
    PLN02560; enoyl-CoA reductase
    cl00155
    Location:62137
    UBQ; Ubiquitin-like proteins
  3. XM_024453962.1XP_024309730.1  trans-2,3-enoyl-CoA reductase-like isoform X6

    Conserved Domains (1) summary
    PLN02560
    Location:79292
    PLN02560; enoyl-CoA reductase
  4. XM_005265662.5XP_005265719.1  trans-2,3-enoyl-CoA reductase-like isoform X1

    Conserved Domains (2) summary
    cl00155
    Location:62122
    UBQ; Ubiquitin-like proteins
    cl21511
    Location:197348
    PEMT; Phospholipid methyltransferase
  5. XM_005265665.4XP_005265722.1  trans-2,3-enoyl-CoA reductase-like isoform X4

    Conserved Domains (2) summary
    PLN02560
    Location:79307
    PLN02560; enoyl-CoA reductase
    cl00155
    Location:62137
    UBQ; Ubiquitin-like proteins
  6. XM_017007959.2XP_016863448.1  trans-2,3-enoyl-CoA reductase-like isoform X7

RNA

  1. XR_001741192.2 RNA Sequence

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