TCEAL1
entrez
9338
canonical
uniprot
Q15170
canonical
ensembl
ENSG00000172465
resolver
ensp
ENSP00000361707
resolver
ensp
ENSP00000361708
resolver
ensp
ENSP00000361709
resolver
ensp
ENSP00000538086
resolver
ensp
ENSP00000538087
resolver
ensp
ENSP00000538088
resolver
ensp
ENSP00000538089
resolver
ensp
ENSP00000538090
resolver
ensp
ENSP00000538091
resolver
ensp
ENSP00000538092
resolver
ensp
ENSP00000538093
resolver
ensp
ENSP00000538094
resolver
ensp
ENSP00000634818
resolver
enst
ENST00000372624
resolver
enst
ENST00000372625
resolver
enst
ENST00000372626
resolver
enst
ENST00000868027
resolver
enst
ENST00000868028
resolver
enst
ENST00000868029
resolver
enst
ENST00000868030
resolver
enst
ENST00000868031
resolver
enst
ENST00000868032
resolver
enst
ENST00000868033
resolver
enst
ENST00000868034
resolver
enst
ENST00000868035
resolver
enst
ENST00000964759
resolver
genesymbol
TCEAL1
resolver
genesymbol_syn
SIIR
resolver
hgnc
HGNC:11616
resolver
uniprot
Q9UJQ9
resolver
uniprot_entry
TCAL1_HUMAN
resolver
uniprot_sec
Q9UJQ9
resolver
amino_acid_sequence
MDKPRKENEEEPQSAPKTDEERPPVEHSPEKQSPEEQSSEEQSSEEEFFPEELLPELLPEMLLSEERPPQEGLSRKDLFEGRPPMEQPPCGVGKHKLEEGSFKERLARSRPQFRGDIHGRNLSNEEMIQAADELEEMKRVRNKLMIMHWKAKRSRPYPI
uniprot
proteins
disease_involvement
DISEASE: Hijazi-Reis syndrome (HIJRS) [MIM:301094]: A neurodevelopmental disorder characterized by hypotonia, abnormal gait, developmental delay, intellectual disability especially affecting expressive language, and autistic behavior. Additional features include facial dysmorphism,ocular anomalies, and gastrointestinal issues. Rare patients have seizures. Disease severity is variable. Males tend to be more severely affected than females. {ECO:0000269|PubMed:36368327}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in transcriptional regulation. Modulates various viral and cellular promoters in a promoter context-dependent manner. For example, transcription from the FOS promoter is increased, while Rous sarcoma virus (RSV) long terminal repeat (LTR) promoter activity is repressed. Does not bind DNA directly.
uniprot
proteins
mass_dalton
18641
uniprot
proteins
mutagenesis
MUTAGEN 38..39; /note="SS->AA: Loss of transcriptional repression."; /evidence="ECO:0000269|PubMed:7592688"; MUTAGEN 43..44; /note="SS->AA: No effect on transcriptional repression."; /evidence="ECO:0000269|PubMed:7592688
uniprot
proteins
post_translational_modification
PTM: Phosphorylation of Ser-38 and Ser-39 is critical for transcriptional repression. {ECO:0000269|PubMed:7592688}.
uniprot
proteins
protein_family
TFA subfamily
uniprot
proteins
protein_family
TFS-II family
uniprot
proteins
pubmed
10051408
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
36368327
uniprot
proteins
pubmed
7592688
uniprot
proteins
pubmed
8206389
uniprot
proteins
sequence_length
159
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins