| Type | Description |
|---|---|
| Definition | sperm associated antigen 17 |
| Date | Results | Publications |
|---|---|---|
| 2019-08-03 11:48:00 | In silico analysis revealed that R1448Q is a potential pathogenic mutation. Immunostaining and western blot assays showed that the R1448Q mutation may exert a negative effect on the steady-state of the protein. Therefore, duanyu1842G17 may be a new pathogenic gene causing Asthenozoospermia (AZS) . | 28548327 |
| 2018-09-22 11:47:00 | Homozygous missense mutation in gene is associated with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia ciliopathy. | 29174089 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20846217 |
| 2010-09-15 22:05:00 | Observational study of gene-disease association. (HuGE Navigator) | 20546612 |
| 2009-12-02 21:41:00 | Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | 19893584 |
| Type | IDs |
|---|---|
| Synonymous | CT143, PF6 |
| Gene |
UniProtKB-ID:
SPG17_HUMAN
UniprotKB:
Q6Q759
UniParc:
UPI00001601FD
EMBL:
AY555274,
AK091816,
AL121993,
AL139345,
AL137581,
AL513191
Ensembl:
ENSG00000155761
KO:
hsa:200162
|
| Nucleutide sequences |
EMBL-CDS:
CAB70823.1,
BAC03753.1,
AAS66753.1
Ensembl_TRS:
ENST00000336338
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000337804
RefSeq:
XP_006710494.1,
XP_006710492.1,
XP_011539241.1,
XP_006710490.1,
XP_011539238.1,
XP_011539237.1,
XP_011539236.1,
XP_011539239.1,
XP_011539243.1,
XP_006710491.1,
XP_011539244.1,
XP_006710489.1,
NP_996879.1
|
| Others |
UniRef100:
UniRef100_Q6Q759
UniRef90:
UniRef90_Q6Q759
UniRef50:
UniRef50_Q5S003
UniGene:
Hs.528821
CCDS:
CCDS899.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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