| Type | Description |
|---|---|
| Definition | ALG13 UDP-N-acetylglucosaminyltransferase subunit |
| Date | Results | Publications |
|---|---|---|
| 2020-06-13 11:53:00 | X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls. | 31444733 |
| 2018-03-24 11:54:00 | ALG13-is2 could be an important modifier of renal filtration defects | 28178702 |
| 2017-12-09 11:44:00 | A female patient heterozygous for ALG13 Asn107Ser variant presented with infantile spasms, developmental delay, and dysmorphic features. The patient showed normal pattern of glycosylated transferrin and random pattern of X-inactivation. | 28778787 |
| 2015-04-18 12:07:00 | We report on a novel missense variant in the ALG13 gene in a nonconsanguineous Arab family that co-segregates with nonsyndromic intellectual disability. | 24501762 |
| 2010-01-21 00:00:00 | ALG13 and ALG14 form a functional endoplasmic reticulum UDP-N-acetylglucosamine transferase | 16100110 |
| Type | IDs |
|---|---|
| Synonymous | CDG1S, CXorf45, EIEE36, GLT28D1, MDS031, TDRD13, YGL047W |
| Gene |
UniProtKB-ID:
ALG13_HUMAN,
A0A087WX43_HUMAN,
A0A087WT15_HUMAN
UniprotKB:
Q9NP73,
A0A087WX43,
A0A087WT15
UniParc:
UPI0000E5AFF9,
UPI0001915158,
UPI000257807E,
UPI0000073F34,
UPI00019153AD,
UPI0001BEF277
EMBL:
CH471120,
AK300394,
BC117377,
AK316522,
AK302890,
AK304712,
BC005336,
AK223154,
AK312229,
AL096764,
AK026671,
AK316306,
BC117379,
AK302729,
AF220051,
AL049563
Ensembl:
ENSG00000101901
KO:
hsa:79868
|
| Nucleutide sequences |
EMBL-CDS:
BAG35162.1,
AAH05336.1,
BAD96874.1,
BAH13790.1,
BAB15521.1,
BAH13833.1,
BAH13276.1,
AAF67644.1,
AAI17378.1,
EAX02635.1,
BAH14893.1,
AAI17380.1,
BAH14677.1,
BAH14244.1
Gene_ORFName:
MDS031
Ensembl_TRS:
ENST00000610588,
ENST00000371979,
ENST00000251943,
ENST00000621367,
ENST00000394780,
ENST00000436609,
ENST00000473389,
ENST00000623189,
ENST00000482742
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000251943,
ENSP00000392990,
ENSP00000481509,
ENSP00000479731,
ENSP00000361047,
ENSP00000378260,
ENSP00000480711,
ENSP00000477513,
ENSP00000485392
RefSeq:
XP_016885335.1,
NP_001244163.1,
XP_006724760.2,
NP_001311223.1,
XP_011529335.1,
NP_001244170.1,
XP_024308217.1,
XP_011529330.1,
NP_001311222.1,
NP_001244168.1,
XP_016885336.1,
NP_001161857.1,
NP_001311221.1,
XP_016885343.1,
NP_060936.1,
NP_001244169.1,
XP_011529332.1,
XP_011529333.1,
NP_001311220.1,
XP_016885338.1,
XP_016885341.1,
NP_001244160.1,
NP_001093392.1,
XP_016885337.1,
XP_006724756.1,
XP_016885339.1,
NP_001244166.1,
XP_006724761.2,
XP_011529334.1,
NP_001311219.1,
XP_011529336.1,
NP_001244159.1,
XP_016885344.1,
XP_011529339.1,
NP_001244164.1,
NP_001034299.3,
XP_016885340.1,
XP_016885342.1
|
| Others |
UniRef100:
UniRef100_Q9NP73,
UniRef100_A0A087WT15,
UniRef100_A0A087WX43
UniRef90:
UniRef90_A0A087WT15,
UniRef90_A0A087WX43,
UniRef90_Q9NP73
UniRef50:
UniRef50_A0A087WT15,
UniRef50_A0A096MJN3,
UniRef50_Q9NP73
UniGene:
Hs.443061
CCDS:
CCDS76012.1,
CCDS55477.1,
CCDS14559.1,
CCDS59173.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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