| Type | Description |
|---|---|
| Definition | solute carrier family 35 member A3 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-13 13:20:00 | Biosynthesis of GlcNAc-rich N- and O-glycans in the Golgi apparatus does not require the nucleotide sugar transporter SLC35A3. | 32938718 |
| 2018-02-10 10:17:00 | SLC35A3 missense homozygous mutation is associated with skeletal dysplasia. | 28777481 |
| 2017-11-04 10:40:00 | Recessive mutations in SLC35A3 caused early onset epileptic encephalopathy with skeletal defects in two siblings in an Italian non-consanguineous family. | 28328131 |
| 2016-02-27 11:16:00 | UDP-galactose (SLC35A2) and UDP-N-acetylglucosamine (SLC35A3) Transporters Form Glycosylation-related Complexes with Mannoside Acetylglucosaminyltransferases (Mgats). | 25944901 |
| 2014-07-19 12:22:00 | Identified deleterious mutations in SLC35A3 in eight patients from a large kindred, who suffered from autism spectrum disorder, arthrogryposis and epilepsy. | 24031089 |
| Type | IDs |
|---|---|
| Synonymous | AMRS |
| Gene |
UniProtKB-ID:
S35A3_HUMAN,
A0A1W2PRT7_HUMAN,
A0A1W2PSD1_HUMAN,
A0A1W2PQL8_HUMAN
UniprotKB:
Q9Y2D2,
A0A1W2PRT7,
A0A1W2PSD1,
A0A1W2PQL8
UniParc:
UPI0003EAEF1C,
UPI0003EAEF64,
UPI0007DC795B,
UPI00000727B3,
UPI0000137AF2,
UPI0000425C60
EMBL:
CH471097,
AB021981,
BC005136,
CR749816,
AK290573,
AC093019,
AC118553
Ensembl:
ENSG00000117620
KO:
hsa:23443
|
| Nucleutide sequences |
EMBL-CDS:
EAW72979.1,
CAH18676.1,
EAW72978.1,
BAF83262.1,
AAH05136.1,
BAA77841.1,
EAW72977.1
Ensembl_TRS:
ENST00000533028,
ENST00000465289,
ENST00000370153,
ENST00000638336,
ENST00000427993,
ENST00000640732,
ENST00000640715,
ENST00000639221
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000433849,
ENSP00000418527,
ENSP00000414947,
ENSP00000359172,
ENSP00000491145,
ENSP00000492771,
ENSP00000492801,
ENSP00000492169
RefSeq:
XP_011539438.1,
XP_016856358.1,
XP_011539439.1,
XP_011539440.1,
XP_005270748.1,
NP_036375.1,
XP_016856360.1,
XP_011539437.1,
NP_001258613.1,
XP_016856359.1,
NP_001258614.1
|
| Others |
UniRef100:
UniRef100_Q9Y2D2,
UniRef100_A0A1W2PSD1,
UniRef100_A0A1W2PQL8,
UniRef100_A0A1W2PRT7
UniRef90:
UniRef90_A0A1W2PRT7,
UniRef90_A0A2R8PHE5,
UniRef90_A0A1W2PQL8,
UniRef90_Q9Y2D2
UniRef50:
UniRef50_H0VDZ4,
UniRef50_F6U699,
UniRef50_Q9Y2D2
UniGene:
Hs.448979,
Hs.534953
CCDS:
CCDS762.1,
CCDS60204.1,
CCDS60205.1
|
| {{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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