| Type | Description |
|---|---|
| Definition | fukutin related protein |
| Date | Results | Publications |
|---|---|---|
| 2021-01-09 13:33:00 | Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related. | 32914449 |
| 2020-12-05 13:01:00 | Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up. | 32764098 |
| 2020-04-11 12:52:00 | Fukutin and fukutin-related protein (FKRP), whose mutated genes underlie dystroglycanopathy, sequentially transfer RboP from cytidine diphosphate-ribitol (CDP-Rbo) to form a tandem RboP unit in the core M3 glycan. Crystal structures of FKRP with and without donor (CDP-Rbo) and/or acceptor [RboP-(phospho-)core M3 peptide] substrates. | 31949166 |
| 2019-11-27 15:08:00 | Cardiomyopathy is expected in nearly 50% of LGMD2I (LGMD-R9) patients, however we report for first time two Mexican LGMD2I siblings that died due to dilated cardiomyopathy associated to compound heterozygous genotype involving the Hispanic/Mexican pathogenic and founder FKRP allele p.[Asn463Asp] and the common European p[Leu276Ile] variant. | 31671740 |
| 2019-04-13 10:14:00 | c.1303C>T mutation from FKRP came from the father and was a new missense mutation, and a bioinformatics analysis showed that it might be a pathogenic mutation | 30210031 |
| Type | IDs |
|---|---|
| Synonymous | LGMD2I, LGMDR9, MDC1C, MDDGA5, MDDGB5, MDDGC5 |
| Gene |
UniProtKB-ID:
FKRP_HUMAN,
A0A024R0R7_HUMAN
UniprotKB:
Q9H9S5,
A0A024R0R7
UniParc:
UPI00000732D0
EMBL:
AK095497,
AC008622,
AJ314847,
BC002612,
CH471126,
AK291282,
AK022638
Ensembl:
ENSG00000181027
KO:
hsa:79147
|
| Nucleutide sequences |
EMBL-CDS:
BAF83971.1,
BAG53071.1,
BAB14146.1,
CAC85633.1,
AAH02612.1,
EAW57444.1,
EAW57445.1
Gene_ORFName:
hCG_1643641
Ensembl_TRS:
ENST00000391909,
ENST00000318584
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000326570,
ENSP00000375776
RefSeq:
XP_011525609.1,
XP_005259306.1,
NP_077277.1,
XP_005259305.1,
NP_001034974.1,
XP_016882786.1,
XP_005259304.1,
XP_011525608.1,
XP_024307475.1
|
| Others |
UniRef100:
UniRef100_Q9H9S5
UniRef90:
UniRef90_Q9H9S5
UniRef50:
UniRef50_Q9H9S5
UniGene:
Hs.515493
CCDS:
CCDS12691.1
|
| {{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