|
Gene id |
79730 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
NSUN7 Gene UCSC Ensembl |
|
Gene name |
NOP2/Sun RNA methyltransferase family member 7 |
|
Alternate names |
putative methyltransferase NSUN7, NOL1/NOP2/Sun domain family member 7, NOP2/Sun domain family, member 7, |
|
Gene location |
4p14 (40749873: 40815728) Exons: 14 NC_000004.12
|
|
OMIM |
617185 |
Protein Summary
|
| Protein general information
| Q8NE18
Name: Putative methyltransferase NSUN7 (EC 2.1.1. ) (NOL1/NOP2/Sun domain family member 7)
Length: 718 Mass: 81,039
|
| Sequence |
MLNSTGELEFSNEEDPEIISQLTSLPLSGGKSSAGVPEKTGYPDSVYVMAANIFQGIRIEKSAQKVLIKYGNEPL
RSLSESEDQSFQRLSYELAFSALKYQDILETILIDSCIFPSTTIPDHLSSLIIVMLYDFQDRKFQTRVLSDNEEP
ISEVQEVENLLNSFKIKLAAALARCRIKHDALSIYHILPETVRKQELRASTLPLYAWINTCKISPEEVYNNLKRR
GYNKVKSVLHIDDKVFAVDQHCYDVLIFPSHLKNDLINIDLFKDYKLIFQDKSRSLAVHSVKALLNMDDDVLMVN
TGSWYTVSHMSILTNNNTSKVFVCGVQSQAKDPDLKTLFTKIGCKNIEILHEKFINIESKDHRLQKVKVILLLPR
CSGLGVSNPVEFILNEHEDTEFLKDHSQGGISVDKLHVLAQQQYEQLTHAMKFTKAQAVVYCTCSVFPEENEAVV
KKALEFQDLGNKGQPYRLSPPVLPLCSLKEIQLSTDKFFRMEPSEITNGCFLSILTRERDPSETVSVNDVLARAA
AKGLLDGIELGKSSKREKKKKKSKTSLTKGATTDNGIQMKIAEFLNRETKASANLSETVTKPPLPQKNTAQVGAS
SQTRKPNKLAPHPAVPAFVKNTCPSRPRERQTHFLRPRPEDRMVALKPIKIVLPPVFMPFSSPQGIRSRMPTQHL
YCRWVAPKALVPTCLPTHSLSRKEEKPKDDTPSSLLRPPRRWL
|
| Structural information |
|
| Other Databases |
GeneCards: NSUN7 Malacards: NSUN7 |
|
| GO accession | Term name | Evidence code | Go category |
|---|
| GO:0003723 |
RNA binding
|
IEA |
molecular function |
GO:0008168 |
methyltransferase activit
y
|
IEA |
molecular function |
GO:0032259 |
methylation
|
IEA |
biological process |
GO:0003723 |
RNA binding
|
IEA |
molecular function |
GO:0008168 |
methyltransferase activit
y
|
IEA |
molecular function |
GO:0008168 |
methyltransferase activit
y
|
IEA |
molecular function |
GO:0016740 |
transferase activity
|
IEA |
molecular function |
GO:0032259 |
methylation
|
IEA |
biological process |
|
|
| Associated diseases |
References |
| Sperm motility | MIK: 25702163 |
| Asthenozoospermia | MIK: 24384068 |
| Asthenozoospermia | MIK: 26345859 |
| Cryptorchidism | MIK: 28606200 |
| Sperm motility defects | MIK: 25702163 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 25702163 |
Sperm moti
lity
|
A11337-deletion of the exon4 |
|
|
Male infertility |
|
Show abstract |
| 24384068 |
Asthenospe
rmic
|
C26232T-transition and T26248G-transversion, exon 7 of the Nsun7 gene |
|
|
Male infertility |
|
Show abstract |
| 25702163 |
Sperm moti
lity, male
infertili
ty
|
Nsun7 (A11337)-deletion mutation |
Iranian
|
120 (60 samples
with asthenosp
ermia, 30 sampl
es with oligosp
ermia, 30 normo
spermic)
|
Male infertility |
|
Show abstract |
| 26345859 |
Asthenospe
rmia
|
NSUN7 (c.906C>T and c.922T>G, in exon7) |
Chinese
Han
|
496 (240 asthen
ospermic men as
a patient grou
p, 256 normospe
rmic men as a c
ontrol group)
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|