RELT
entrez
84957
canonical
uniprot
Q969Z4
canonical
ensembl
ENSG00000054967
resolver
ensp
ENSP00000064780
resolver
ensp
ENSP00000377207
resolver
ensp
ENSP00000527904
resolver
ensp
ENSP00000527905
resolver
ensp
ENSP00000527906
resolver
ensp
ENSP00000595277
resolver
ensp
ENSP00000595278
resolver
ensp
ENSP00000610991
resolver
ensp
ENSP00000610992
resolver
ensp
ENSP00000610993
resolver
ensp
ENSP00000610994
resolver
ensp
ENSP00000610996
resolver
ensp
ENSP00000610997
resolver
ensp
ENSP00000697180
resolver
enst
ENST00000064780
resolver
enst
ENST00000393580
resolver
enst
ENST00000857845
resolver
enst
ENST00000857847
resolver
enst
ENST00000940934
resolver
enst
ENST00000940935
resolver
enst
ENST00000940937
resolver
enst
ENST00000940938
resolver
genesymbol
RELT
resolver
genesymbol_syn
TNFRSF19L
resolver
hgnc
HGNC:13764
resolver
uniprot
Q86V34
resolver
uniprot
Q96JU1
resolver
uniprot
Q9BUX7
resolver
uniprot_entry
TR19L_HUMAN
resolver
uniprot_sec
Q86V34
resolver
uniprot_sec
Q96JU1
resolver
uniprot_sec
Q9BUX7
resolver
amino_acid_sequence
MKPSLLCRPLSCFLMLLPWPLATLTSTTLWQCPPGEEPDLDPGQGTLCRPCPPGTFSAAWGSSPCQPHARCSLWRRLEAQVGMATRDTLCGDCWPGWFGPWGVPRVPCQPCSWAPLGTHGCDEWGRRARRGVEVAAGASSGGETRQPGNGTRAGGPEETAAQYAVIAIVPVFCLMGLLGILVCNLLKRKGYHCTAHKEVGPGPGGGGSGINPAYRTEDANEDTIGVLVRLITEKKENAAALEELLKEYHSKQLVQTSHRPVSKLPPAPPNVPHICPHRHHLHTVQGLASLSGPCCSRCSQKKWPEVLLSPEAVAATTPVPSLLPNPTRVPKAGAKAGRQGEITILSVGRFRVARIPEQRTSSMVSEVKTITEAGPSWGDLPDSPQPGLPPEQQALLGSGGSRTKWLKPPAENKAEENRYVVRLSESNLVI
uniprot
proteins
disease_involvement
DISEASE: Amelogenesis imperfecta 3C (AI3C) [MIM:618386]: An autosomal recessive form of amelogenesis imperfecta, a defect of enamel formation. AI3C is characterized by generalized enamel hypocalcification affecting primary and secondary dentition. The surface of the enamel is rough and often stained. After eruption, the occlusal enamel on the molars disappears due to attrition, leaving a ring of intact enamel remaining on the sides. {ECO:0000269|PubMed:30506946}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role in apoptosis (PubMed:19969290, PubMed:28688764). Induces activation of MAPK14/p38 and MAPK8/JNK MAPK cascades, when overexpressed (PubMed:16530727). Involved in dental enamel formation (PubMed:30506946). {ECO:0000269|PubMed:16530727, ECO:0000269|PubMed:19969290, ECO:0000269|PubMed:28688764, ECO:0000269|PubMed:30506946}.
uniprot
proteins
mass_dalton
46092
uniprot
proteins
mutagenesis
MUTAGEN 350; /note="F->A: Loss of interaction with STK39."; /evidence="ECO:0000269|PubMed:16530727
uniprot
proteins
post_translational_modification
PTM: Phosphorylated in vitro by OXSR1 (PubMed:16389068). Phosphorylated by STK39 (PubMed:16530727). {ECO:0000269|PubMed:16389068, ECO:0000269|PubMed:16530727}.
uniprot
proteins
protein_family
RELT family
uniprot
proteins
pubmed
11313261
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16389068
uniprot
proteins
pubmed
16530727
uniprot
proteins
pubmed
19969290
uniprot
proteins
pubmed
22052202
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28688764
uniprot
proteins
pubmed
30506946
uniprot
proteins
sequence_length
430
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16389068}; Single-pass type I membrane protein {ECO:0000269|PubMed:16389068}. Cytoplasm {ECO:0000269|PubMed:16389068}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:22052202}.
uniprot
proteins
transmembrane_region
TRANSMEM 163..183; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins