InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TSPYL1

Summary

InnateDB Protein

IDBP-95653.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TSPYL1

Protein Name

TSPY-like 1

Synonyms

TSPYL;

Species

Homo sapiens

Ensembl Protein

ENSP00000357597

InnateDB Gene

IDBG-95651 (TSPYL1)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Nucleus, nucleolus {ECO:0000269PubMed:12429849}.

Disease Associations

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:0000269PubMed:15273283}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in testis, ovary, liver, spleen, brain, kidney, prostate, lung, liver, and heart. {ECO:0000269PubMed:9730615}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.