| Type | Description |
|---|---|
| Definition | methyltransferase like 23 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:32:00 | Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants. | 32878022 |
| 2021-02-06 13:57:00 | Further delineation of METTL23-associated intellectual disability. | 32067349 |
| 2021-01-09 13:29:00 | Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features. | 32439618 |
| 2015-02-21 11:56:00 | METTL23 mutations cause mild nonsyndromic autosomal recessive intellectual disability in two unrelated families, one from Austria, the other from Pakistan. | 24626631 |
| 2015-01-31 13:19:00 | METTL23, a transcriptional partner of GABPA, is essential for human cognition | 24501276 |
| Type | IDs |
|---|---|
| Synonymous | C17orf95, MRT44 |
| Gene |
UniProtKB-ID:
MET23_HUMAN,
Q8N712_HUMAN,
A0A024R8M5_HUMAN
UniprotKB:
Q86XA0,
Q8N712,
A0A024R8M5
UniParc:
UPI000016111D,
UPI0000E5A0C6,
UPI00001BDAEC
EMBL:
JQ313903,
CH471099,
BC045819,
AC005837,
BC033998
Ensembl:
ENSG00000181038
KO:
hsa:124512
|
| Nucleutide sequences |
EMBL-CDS:
EAW89437.1,
AAH45819.1,
EAW89435.1,
AFH41797.1,
AAH33998.2,
EAW89438.1
Gene_ORFName:
hCG_1818127
Ensembl_TRS:
ENST00000586752,
ENST00000341249,
ENST00000615984,
ENST00000588822,
ENST00000590964
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000465430,
ENSP00000465890,
ENSP00000482599,
ENSP00000466203,
ENSP00000341543
RefSeq:
NP_001193914.1,
NP_001289632.1,
NP_001365280.1,
NP_001289634.1,
NP_001365283.1,
NP_001193915.1,
XP_016879634.1,
NP_001365281.1,
NP_001289633.1,
NP_001193916.1,
NP_001073979.3,
XP_006721742.1,
XP_024306331.1,
NP_001365279.1,
NP_001365277.1,
NP_001365278.1,
NP_001193913.1,
NP_001193912.1,
NP_001365282.1
|
| Others |
UniRef100:
UniRef100_Q8N712,
UniRef100_Q86XA0
UniRef90:
UniRef90_Q86XA0
UniRef50:
UniRef50_Q86XA0
UniGene:
Hs.74655
CCDS:
CCDS59298.1,
CCDS45787.1
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| 1 |
Institute of Human Genetics |
2 |
| 2 |
College of Medicine |
2 |
| 3 |
Geron Corporation, Menlo Park, California 94025, USA. rbrandenberger@geron.com |
1 |
| 4 |
Life Science Research Laboratory, Central Research Laboratory, Hitachi, Ltd., Kokubunji, Tokyo, 185-8601, Japan. |
1 |
| 5 |
The Institute of Medical Science |
1 |
| 排名 | 研究人员 | 文献 |
|---|---|---|
| 1 |
Katsuki Tsuritani |
2 |
| 2 |
Hiroyuki Wakaguri |
2 |
| 3 |
Riu Yamashita |
2 |
| 4 |
Sumio Sugano |
2 |
| 5 |
Kenta Nakai |
2 |