TSPYL1
entrez
7259
canonical
uniprot
Q9H0U9
canonical
ensembl
ENSG00000189241
resolver
ensp
ENSP00000357597
resolver
ensp
ENSP00000498597
resolver
enst
ENST00000368608
resolver
enst
ENST00000652202
resolver
genesymbol
TSPYL1
resolver
genesymbol_syn
TSPYL
resolver
hgnc
HGNC:12382
resolver
uniprot
O75885
resolver
uniprot
Q5TFE6
resolver
uniprot_entry
TSYL1_HUMAN
resolver
uniprot_sec
O75885
resolver
uniprot_sec
Q5TFE6
resolver
amino_acid_sequence
MSGLDGVKRTTPLQTHSIIISDQVPSDQDAHQYLRLRDQSEATQVMAEPGEGGSETVALPPPPPSEEGGVPQDAAGRGGTPQIRVVGGRGHVAIKAGQEEGQPPAEGLAAASVVMAADRSLKKGVQGGEKALEICGAQRSASELTAGAEAEAEEVKTGKCATVSAAVAERESAEVVKEGLAEKEVMEEQMEVEEQPPEGEEIEVAEEDRLEEEAREEEGPWPLHEALRMDPLEAIQLELDTVNAQADRAFQQLEHKFGRMRRHYLERRNYIIQNIPGFWMTAFRNHPQLSAMIRGQDAEMLRYITNLEVKELRHPRTGCKFKFFFRRNPYFRNKLIVKEYEVRSSGRVVSLSTPIIWRRGHEPQSFIRRNQDLICSFFTWFSDHSLPESDKIAEIIKEDLWPNPLQYYLLREGVRRARRRPLREPVEIPRPFGFQSG
uniprot
proteins
disease_involvement
DISEASE: Sudden infant death with dysgenesis of the testes syndrome (SIDDT) [MIM:608800]: Autosomal recessive disorder. Affected infants appear normal at birth, develop signs of visceroautonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. Features included bradycardia, hypothermia, severe gastroesophageal reflux, laryngospasm, bronchospasm, and abnormal cardiorespiratory patterns during sleep. Genotypic males with SIDDT had fetal testicular dysgenesis and ambiguous genitalia, with findings such as intraabdominal testes, dysplastic testes, deficient fetal testosterone production, fusion and rugation of the gonadal sac, and partial development of the penile shaft. Female sexual development was normal. Affected infants had an unusual staccato cry, similar to the cry of a goat. {ECO:0000269|PubMed:15273283}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
49192
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by the CRL2(APPBP2) complex, which recognizes the Arg-Xaa-Xaa-Gly sequence at the C-terminus, leading to its degradation. {ECO:0000269|PubMed:29779948}.
uniprot
proteins
protein_family
Nucleosome assembly protein (NAP) family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12429849
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15273283
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29779948
uniprot
proteins
pubmed
9730615
uniprot
proteins
sequence_length
437
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
uniprot
proteins