|
Gene id |
23287 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
AGTPBP1 Gene UCSC Ensembl |
|
Aliases |
CCP1, CONDCA, NNA1 |
|
Gene name |
ATP/GTP binding protein 1 |
|
Alternate names |
cytosolic carboxypeptidase 1, carboxypeptidase-tubulin, nervous system nuclear protein induced by axotomy protein 1 homolog, soluble carboxypeptidase, tubulinyl-Tyr carboxypeptidase, tyrosine carboxypeptidase, |
|
Gene location |
9q21.33 (85742028: 85546538) Exons: 30 NC_000009.12
|
|
Gene summary(Entrez) |
NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, Jul 2002]
|
|
OMIM |
606830 |
|
| Associated diseases |
References |
| Asthma | GAD: 11022011 |
| Spermatogenesis defects | MIK: 21110128 |
| Plays an important role in spermatogenesis and is important for survival of germ cells at spermatocytes stage onward | MIK: 21110128 |
| Teratozoospermia | MIK: 17327269 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 21110128 |
Plays an i
mportant r
ole in spe
rmatogenes
is and is
important
for surviv
al of germ
cells at
spermatocy
tes stage
onward
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|