| Type | Description |
|---|---|
| Definition | trimethyllysine hydroxylase, epsilon |
| Date | Results | Publications |
|---|---|---|
| 2020-02-15 12:37:00 | This work demonstrates the importance of the recognition sites that contribute to the enzymatic activity of TMLH: the Fe(II)-binding H242-D244-H389 residues, R391-R398 involved in 2OG binding and several residues (D231, N334 and the aromatic cage comprised of W221, Y217 and Y234) associated with binding of (2S)-N (epsilon)-trimethyllysine. | 30898847 |
| 2018-05-05 11:50:00 | Case Report: complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis in proband's mother. | 28492696 |
| 2013-04-27 11:13:00 | Study found 3 mutations in TMLHE to be associated with autism spectrum disorder, c.229C>T/p.Arg77X, c.730G>C/p.Asp244His, and c.1107G>T/p.Glu369Asp. | 23092983 |
| 2012-08-04 11:22:00 | TMLHE deficiency is common in control males and was not significantly increased in frequency in probands from simplex autism families, however, it was 2.82-fold more frequent in probands from male-male multiplex autism families. | 22566635 |
| 2012-05-19 11:14:00 | Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. | 21865298 |
| Type | IDs |
|---|---|
| Synonymous | AUTSX6, BBOX2, TMLD, TMLH, TMLHED, XAP130 |
| Gene |
UniProtKB-ID:
TMLH_HUMAN
UniprotKB:
Q9NVH6
UniParc:
UPI00024B9D25,
UPI00006C1CFF,
UPI000013707B,
UPI00024B9D24,
UPI00024B9D26,
UPI0000071194,
UPI00024B9D27,
UPI00017A890F
EMBL:
CR457265,
AK310667,
AM393196,
AK304830,
AF373407,
BX276110,
BC025269,
AK001589,
AK291694
Ensembl:
ENSG00000185973
KO:
hsa:55217
|
| Nucleutide sequences |
EMBL-CDS:
AAH25269.1,
AAL01871.1,
BAG65575.1,
CAL38074.1,
BAF84383.1,
BAA91775.1,
CAG33546.1
Ensembl_TRS:
ENST00000334398,
ENST00000369439
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000335261,
ENSP00000358447
RefSeq:
XP_011529484.1,
NP_060666.1,
NP_001171726.1,
XP_016885109.1
|
| Others |
UniRef100:
UniRef100_Q9NVH6
UniRef90:
UniRef90_Q9NVH6
UniRef50:
UniRef50_Q9NVH6
UniGene:
Hs.133321
CCDS:
CCDS14768.1,
CCDS55547.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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