| Type | Description |
|---|---|
| Definition | solute carrier family 35 member A1 |
| Date | Results | Publications |
|---|---|---|
| 2019-10-26 11:40:00 | Data indicate a congenital deficiency in solute carrier family 35 (CMP-sialic acid transporter), member A1 (SLC35A1) mutation in two siblings born to consanguineous parents and who displayed moderate macrothrombocytopenia. | 30115659 |
| 2018-06-09 11:02:00 | We performed exome sequencing on an individual with a profound neurological presentation and identified rare compound heterozygous mutations, p.Thr156Arg and p.Glu196Lys, in the CMP-sialic acid transporter, SLC35A1. Patient primary fibroblasts and serum showed a considerable decrease in the amount of N- and O-glycans terminating in sialic acid | 28856833 |
| 2017-12-09 10:03:00 | the SLC35A1 generates additional isoforms through alternative splicing. | 27387429 |
| 2016-02-06 10:28:00 | SLC35A1-deficient cells lack of alpha-dystroglycan O-mannosylation, ligand binding and incorporation of sialic acids. | 25552652 |
| 2013-11-16 11:51:00 | We confirm an autosomal recessive, generalized sialylation defect due to mutations in SLC35A1 | 23873973 |
| Type | IDs |
|---|---|
| Synonymous | CDG2F, CMPST, CST, hCST |
| Gene |
UniProtKB-ID:
S35A1_HUMAN
UniprotKB:
P78382
UniParc:
UPI00004523AF,
UPI0000127BDD
EMBL:
AJ851888,
BC017807,
D87969,
AL049697
Ensembl:
ENSG00000164414
KO:
hsa:10559
|
| Nucleutide sequences |
EMBL-CDS:
CAH65468.1,
AAH17807.1,
BAA13522.1
Ensembl_TRS:
ENST00000369556,
ENST00000369552
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000358569,
ENSP00000358565
RefSeq:
NP_001161870.1,
NP_006407.1
|
| Others |
UniRef100:
UniRef100_P78382
UniRef90:
UniRef90_P78382
UniRef50:
UniRef50_P78382
UniGene:
Hs.423163
CCDS:
CCDS5010.1,
CCDS55043.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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