|
Gene id |
7258 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
TSPY1 Gene UCSC Ensembl |
|
Aliases |
CT78, DYS14, TSPY, pJA923 |
|
Gene name |
testis specific protein, Y-linked 1 |
|
Alternate names |
testis-specific Y-encoded protein 1, cancer/testis antigen 78, |
|
Gene location |
Yp11.2 (9466954: 9469755) Exons: 6 NC_000024.10
|
|
Gene summary(Entrez) |
The protein encoded by this gene is found only in testicular tissue and may be involved in spermatogenesis. Many functional paralogs and pseudogenes of this gene are present in a cluster in humans, but only a single, nonfunctional orthologous gene is foun
|
|
OMIM |
480100 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Azoospermia | MIK: 24728569 |
| Male factor infertility | MIK: 19773397 |
| Spermatid quality and quantity | MIK: 17509197 |
| Spermatogenesis defects | MIK: 23307928 |
| Spermatogenesis defects | MIK: 22286816 |
| Azoospermia | MIK: 24728569 |
| Fertility defects | MIK: 22286816 |
| Spermatogenic defects | MIK: 22286816 |
| Spermatid quality and quantity defects | MIK: 17509197 |
| Male infertility | MIK: 17509197 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 23307928 |
Spermatoge
nesis effi
ciency
|
gr/gr deletion carriers |
Han Chi
nese
|
2272 (704 males
with the b2/b4
or gr/gr delet
ion and 1568 no
n-AZFc-deleted
males)
|
Male infertility |
|
Show abstract |
| 24728569 |
Azoospermi
a
|
|
|
114 (83 semen s
amples, 31 non-
obstructive azo
ospermia)
|
Male infertility |
TSPY1
DAZ
SPTRX3 and SPTRX1
|
Show abstract |
| 17509197 |
Spermatid
quality an
d quantity
, male inf
ertility
|
|
|
124 (84 stratif
ied infertile m
en, 40 controls
)
|
Male infertility |
TSPY
AMELY/X
|
Show abstract |
| 22286816 |
Impaired f
ertility,
impaired s
permatogen
esis
|
TSPY (c.T16>C Ser/Pro, c.T25>C Tyr/His, c.A36>C silent mutation, c.36_42 AGAGAGG/CAT, c.39G>C Glu/Asp, c.G48>A silent mutation, c.G51>T Gln/His, c.T56>C Phe/Ser, c.G59>A Cys/Tyr, c.G68>A Gly/Asp, c.C70>G Arg/Gly, c.G71>A Arg/Gln, c.G72>A silent mutation, |
|
103 (72 inferti
le men, 31 fert
ile controls)
|
Male infertility |
TSPY
|
Show abstract |
| 19773397 |
Spermatoge
nic effici
ency, male
infertili
ty
|
TSPY copy number variation |
Italy
|
284 (154 idiopa
thic infertile
men, 130 normoz
oospermic contr
ols)
|
Male infertility |
TSPY
|
Show abstract |
|