TECRL
entrez
253017
canonical
uniprot
Q5HYJ1
canonical
ensembl
ENSG00000205678
resolver
ensp
ENSP00000370607
resolver
ensp
ENSP00000426043
resolver
ensp
ENSP00000566907
resolver
ensp
ENSP00000656449
resolver
ensp
ENSP00000692616
resolver
ensp
ENSP00000778874
resolver
ensp
ENSP00000778875
resolver
enst
ENST00000381210
resolver
enst
ENST00000507440
resolver
genesymbol
TECRL
resolver
genesymbol_syn
SRD5A2L2
resolver
hgnc
HGNC:27365
resolver
uniprot
E9PD39
resolver
uniprot_entry
E9PD39_HUMAN
resolver
uniprot_entry
TECRL_HUMAN
resolver
amino_acid_sequence
MFKRHKSLASERKRALLSQRATRFILKDDMRNFHFLSKLVLSAGPLRPTPAVKHSKTTHFEIEIFDAQTRKQICILDKVTQSSTIHDVKQKFHKACPKWYPSRVGLQLECGGPFLKDYITIQSIAASSIVTLYATDLGQQVSWTTVFLAEYTGPLLIYLLFYLRIPCIYDGKESARRLRHPVVHLACFCHCIHYIRYLLETLFVHKVSAGHTPLKNLIMSCAFYWGFTSWIAYYINHPLYTPPSFGNRQITVSAINFLICEAGNHFINVMLSHPNHTGNNACFPSPNYNPFTWMFFLVSCPNYTYEIGSWISFTVMTQTLPVGIFTLLMSIQMSLWAQKKHKIYLRKFNSYIHRKSAMIPFIL
uniprot
proteins
disease_involvement
DISEASE: Ventricular tachycardia, catecholaminergic polymorphic, 3 (CPVT3) [MIM:614021]: An 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. {ECO:0000269|PubMed:27861123}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.3.1.-
uniprot
proteins
mass_dalton
42009
uniprot
proteins
protein_family
Steroid 5-alpha reductase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
25787250
uniprot
proteins
pubmed
27861123
uniprot
proteins
sequence_length
363
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Endoplasmic reticulum {ECO:0000269|PubMed:27861123}.
uniprot
proteins
transmembrane_region
TRANSMEM 143..163; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 217..237; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 311..331; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins