|
Gene id |
128153 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SPATA17 Gene UCSC Ensembl |
|
Aliases |
IQCH, MSRG-11, MSRG11 |
|
Gene name |
spermatogenesis associated 17 |
|
Alternate names |
spermatogenesis-associated protein 17, IQ motif containing H, spermatogenesis-related protein 11, |
|
Gene location |
1q41 (217631323: 217868150) Exons: 12 NC_000001.11
|
|
OMIM |
611032 |
Protein Summary
|
| Protein general information
| Q96L03
Name: Spermatogenesis associated protein 17
Length: 361 Mass: 43,499
|
| Sequence |
MATLARLQARSSTVGNQYYFRNSVVDPFRKKENDAAVKIQSWFRGCQVRAYIRHLNRIVTIIQKWWRSFLGRKQY
QLTVQVAYYTMMMNLYNAMAVRIQRRWRGYRVRKYLFNYYYLKEYLKVVSETNDAIRKALEEFAEMKEREEKKAN
LEREEKKRDYQARKMHYLLSTKQIPGIYNSPFRKEPDPWELQLQKAKPLTHRRPKVKQKDSTSLTDWLACTSARS
FPRSEILPPINRKQCQGPFRDITEVLEQRYRPLEPTLRVAEPIDELKLAREELRREEWLQNVNDNMFLPFSSYHK
NEKYIPSMHLSSKYGPISYKEQFRSENPKKWICDKDFQTVLPSFELFSKYGKLYSKAGQIV
|
| Structural information |
|
| Other Databases |
GeneCards: SPATA17 Malacards: SPATA17 |
|
| GO accession | Term name | Evidence code | Go category |
|---|
| GO:0005516 |
calmodulin binding
|
IEA |
molecular function |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005516 |
calmodulin binding
|
IEA |
molecular function |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
|
|
| Associated diseases |
References |
| Anorexia nervosa | GAD: 19680270 |
| Male factor infertility | MIK: 19483714 |
| Meiotic arrest | MIK: 19483714 |
| Sertoli cell only syndrome (SCOS) | MIK: 19483714 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Hypospermatogenesis | MIK: 28361989 |
| Induces sperm cell apoptosis | MIK: 23079716 |
| Meiotic arrest | MIK: 19483714 |
| Sertoli-cell-only syndrome (SCOS) | MIK: 19483714 |
| Non-obstructive azoospermia | MIK: 28718531 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 19483714 |
Meiotic ar
rest, Sert
oli-cell-o
nly syndro
me (SCOS),
|
|
Japanes
e
|
134 (18 patient
s with meiotic
arrest, 20 pati
ents with Serto
li-cell-only sy
ndrome (SCOS) a
nd 96 healthy c
ontrol men)
|
Male infertility |
|
Show abstract |
| 23079716 |
Induces sp
erm cell a
poptosis
|
|
|
|
Male infertility |
|
Show abstract |
| 28718531 |
Non-obstru
ctive azoo
spermia
|
c.G4A, p.(Ala2Thr) |
Japanes
e
|
40 patients wi
th idiopathic n
on-obstructive
azoospermia
|
Male infertility |
NGS
|
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 |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28361989 |
Hyposperma
togenesis
|
|
|
6 (3 controls,
3 Klienfelter s
yndrome
|
Male infertility |
Microarray
|
Show abstract |
|