| Type | Description |
|---|---|
| Definition | protein O-mannosyltransferase 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-04-20 11:40:00 | In this review, we highlight the present knowledge of the identified disease-associated POMT1 gene mutations and genetic animal models related to the POMT1 gene. | 30454682 |
| 2018-06-09 10:42:00 | The child was found to carry a heterozygous missense mutation c.1939G>A (p.Ala647Thr) in exon 19 of the protein-O-mannosyltransferase 1 (POMT1) gene inherited from the mother and a heterozygous frameshift mutation c.2141delG (p.Trp714Ter) in exon 20 inherited from the father. | 29419866 |
| 2018-03-24 10:39:00 | These findings may expand phenotype and mutation spectrum of the POMT1 gene. Clinical diagnosis supplemented with molecular screening may result in more accurate diagnoses of, prognoses for, and improved genetic counselling for this disease | 28157257 |
| 2017-07-15 10:17:00 | O-mannosylation of cadherins and protocadherins does not require POMT1 and/or POMT2 in contrast to alpha-dystroglycan, and moreover, the O-Man glycans on cadherins are not elongated. | 28512129 |
| 2017-05-13 17:19:00 | results demonstrate functional and biochemical similarities between POMT1 and its orthologue from bakers' yeast Pmt4. | 27358400 |
| Type | IDs |
|---|---|
| Synonymous | LGMD2K, LGMDR11, MDDGA1, MDDGB1, MDDGC1, RT |
| Gene |
UniProtKB-ID:
POMT1_HUMAN,
A0A140VKE0_HUMAN
UniprotKB:
Q9Y6A1,
A0A140VKE0
UniParc:
UPI0001824646,
UPI000015D95F,
UPI000013CDA7,
UPI00001AAC51
EMBL:
AF095146,
AK074888,
AK000391,
AK000475,
AK074874,
AF095149,
AF095148,
AL358781,
AF095147,
AF095145,
AF095142,
BC065268,
AF095136,
AF095150,
BC022877,
AF095138,
AF095140,
AF095144,
AF095143,
AF095141,
HM005680,
CH471090,
AK295561,
AF095139
Ensembl:
ENSG00000130714
KO:
hsa:10585
|
| Nucleutide sequences |
EMBL-CDS:
EAW87978.1,
BAC11269.1,
AAH22877.3,
AAD41245.1,
BAG52022.1,
AAH65268.1,
AAD41246.1,
BAG58462.1,
BAA91190.1,
BAA91135.1,
AEE61277.1
Ensembl_TRS:
ENST00000372228,
ENST00000341012,
ENST00000402686,
ENST00000404875,
ENST00000423007
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000385797,
ENSP00000361302,
ENSP00000384531,
ENSP00000404119,
ENSP00000343034
RefSeq:
NP_001070833.1,
NP_001361622.1,
NP_001340126.2,
NP_001361618.1,
XP_011516443.1,
NP_001340125.1,
XP_006716995.1,
NP_001361624.1,
XP_011516442.1,
XP_011516444.1,
XP_024303150.1,
NP_001129586.1,
NP_001340123.1,
NP_001340122.2,
XP_016869694.1,
NP_001340124.1,
XP_011516445.1,
NP_001340127.2,
NP_001361620.1,
NP_001070834.1,
XP_005272219.1,
XP_024303149.1,
XP_024303148.1,
NP_001361619.1,
NP_001340128.2,
NP_001129585.1,
NP_009102.4,
NP_001361621.1,
XP_011516447.1,
NP_001340129.1
|
| Others |
UniRef100:
UniRef100_Q9Y6A1,
UniRef100_A0A140VKE0
UniRef90:
UniRef90_Q9Y6A1
UniRef50:
UniRef50_Q9Y6A1
UniGene:
Hs.522449
CCDS:
CCDS43894.1,
CCDS48045.1,
CCDS6943.1,
CCDS43895.1
|
| {{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