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Protein

Trans-2,3-enoyl-CoA reductase-like

Gene

TECRL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase

Enzyme and pathway databases

ReactomeiR-HSA-75876. Synthesis of very long-chain fatty acyl-CoAs.

Names & Taxonomyi

Protein namesi
Recommended name:
Trans-2,3-enoyl-CoA reductase-like (EC:1.3.1.-)
Alternative name(s):
Steroid 5-alpha-reductase 2-like 2 protein
Gene namesi
Name:TECRL
Synonyms:SRD5A2L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000205678.7.
HGNCiHGNC:27365. TECRL.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei143 – 163HelicalSequence analysisAdd BLAST21
Transmembranei217 – 237HelicalSequence analysisAdd BLAST21
Transmembranei311 – 331HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Ventricular tachycardia, catecholaminergic polymorphic, 3 (CPVT3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, or sudden death after physical activity or emotional stress. CPVT3 is an autosomal recessive disorder with onset at early age and associated with sudden death in childhood. Patients manifest QT prolongation on adrenergic stimulation.
See also OMIM:614021
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078556196R → Q in CPVT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs773204795Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi253017.
MalaCardsiTECRL.
MIMi614021. phenotype.
OpenTargetsiENSG00000205678.
PharmGKBiPA165664664.

Polymorphism and mutation databases

BioMutaiTECRL.
DMDMi74707936.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003177131 – 363Trans-2,3-enoyl-CoA reductase-likeAdd BLAST363

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei37PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ5HYJ1.
PeptideAtlasiQ5HYJ1.
PRIDEiQ5HYJ1.

PTM databases

iPTMnetiQ5HYJ1.
PhosphoSitePlusiQ5HYJ1.

Expressioni

Tissue specificityi

Predominantly expressed in the heart and skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000205678.
ExpressionAtlasiQ5HYJ1. baseline and differential.
GenevisibleiQ5HYJ1. HS.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000370607.

Structurei

3D structure databases

ProteinModelPortaliQ5HYJ1.
SMRiQ5HYJ1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the steroid 5-alpha reductase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1639. Eukaryota.
ENOG410XR2S. LUCA.
GeneTreeiENSGT00510000046645.
HOGENOMiHOG000190918.
InParanoidiQ5HYJ1.
OMAiINFLICE.
OrthoDBiEOG091G0CSL.
PhylomeDBiQ5HYJ1.
TreeFamiTF300908.

Family and domain databases

InterProiView protein in InterPro
IPR001104. 3-oxo-5_a-steroid_4-DH_C.
PfamiView protein in Pfam
PF02544. Steroid_dh. 1 hit.
PROSITEiView protein in PROSITE
PS50244. S5A_REDUCTASE. 1 hit.

Sequencei

Sequence statusi: Complete.

Q5HYJ1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MFKRHKSLAS ERKRALLSQR ATRFILKDDM RNFHFLSKLV LSAGPLRPTP
60 70 80 90 100
AVKHSKTTHF EIEIFDAQTR KQICILDKVT QSSTIHDVKQ KFHKACPKWY
110 120 130 140 150
PSRVGLQLEC GGPFLKDYIT IQSIAASSIV TLYATDLGQQ VSWTTVFLAE
160 170 180 190 200
YTGPLLIYLL FYLRIPCIYD GKESARRLRH PVVHLACFCH CIHYIRYLLE
210 220 230 240 250
TLFVHKVSAG HTPLKNLIMS CAFYWGFTSW IAYYINHPLY TPPSFGNRQI
260 270 280 290 300
TVSAINFLIC EAGNHFINVM LSHPNHTGNN ACFPSPNYNP FTWMFFLVSC
310 320 330 340 350
PNYTYEIGSW ISFTVMTQTL PVGIFTLLMS IQMSLWAQKK HKIYLRKFNS
360
YIHRKSAMIP FIL
Length:363
Mass (Da):42,009
Last modified:February 15, 2005 - v1
Checksum:iD68F53FC397397AC
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074183169Y → H1 Publication1
Natural variantiVAR_078556196R → Q in CPVT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs773204795Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK290606 mRNA. Translation: BAF83295.1.
BX647590 mRNA. Translation: CAI46063.1.
AL833108 mRNA. Translation: CAI46109.1.
CCDSiCCDS33990.1.
RefSeqiNP_001010874.2. NM_001010874.4.
UniGeneiHs.227752.

Genome annotation databases

EnsembliENST00000381210; ENSP00000370607; ENSG00000205678.
GeneIDi253017.
KEGGihsa:253017.
UCSCiuc003hcv.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTECRL_HUMAN
AccessioniPrimary (citable) accession number: Q5HYJ1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: February 15, 2005
Last modified: October 25, 2017
This is version 86 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families