| Type | Description |
|---|---|
| Definition | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase |
| Date | Results | Publications |
|---|---|---|
| 2018-03-03 11:46:00 | evaluated the genetic association of WDR3 and ALG1 in schizophrenia. We examined 21 single nucleotide polymorphisms [SNPs; W1 (rs1812607)-W16 (rs6656360), A1 (rs8053916)-A10 (rs9673733)] from these genes using the Japanese case-control sample (1,808 schizophrenics and 2,170 matched controls). No significant genetic associations of these SNPs were identified. However, we detected a significant association of W4 (rs319471) | 29309433 |
| 2017-12-16 12:11:00 | Study presents molecular, clinical and biochemical findings in the largest collection of ALG1-CDG cases ever reported at a single time with 39 cases, bringing the total number to 57. This ranks it the third most common CDG type behind PMM2-CDG and ALG6-CDG. In addition, highly lethal genotype were identified and confirm the presence of a unique xeno-tetrasaccharide in ALG1-CDG patients. | 26931382 |
| 2014-04-19 11:48:00 | Was detected in the patient's ALG1-coding sequence. | 24157261 |
| 2012-12-22 11:15:00 | Family study defining the phenotype of deficiency of beta-1,4 mannosyltransferase (MT-1) congenital disorder of glycosylation (CDG), due to ALG1 gene mutations. Four novel ALG1 mutations were identified. | 22966035 |
| 2011-05-07 10:19:00 | DNA sequencing of ALG1 revealed nine different mutations, seven of which have not been previously reported. Clinical presentations of deficiency are severe, with dysmorphias, CNS involvement and ocular disturbances | 20679665 |
| Type | IDs |
|---|---|
| Synonymous | CDG1K, HMAT1, HMT-1, HMT1, MT-1, Mat-1, hMat-1 |
| Gene |
UniProtKB-ID:
ALG1_HUMAN
UniprotKB:
Q9BT22
UniParc:
UPI000003B09B,
UPI000059D30A
EMBL:
AY359073,
AB019038,
AK075373,
AC026458,
BC004402,
AK298144,
BC031095
Ensembl:
ENSG00000033011
KO:
hsa:56052
|
| Nucleutide sequences |
EMBL-CDS:
AAH04402.1,
BAG60420.1,
AAH31095.1,
BAA90748.1,
BAC11576.1,
AAQ89432.1
Gene_ORFName:
UNQ861/PRO1870,
PSEC0061
Ensembl_TRS:
ENST00000262374,
ENST00000588623,
ENST00000544428
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000468118,
ENSP00000262374,
ENSP00000440019
RefSeq:
NP_061982.3,
XP_016878946.1,
XP_016878947.1,
NP_001317433.1
|
| Others |
UniRef100:
UniRef100_Q9BT22
UniRef90:
UniRef90_Q9BT22
UniRef50:
UniRef50_Q9BT22
UniGene:
Hs.592086
CCDS:
CCDS10528.1,
CCDS81946.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| 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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员