| Type | Description |
|---|---|
| Definition | transmembrane protein 231 |
| Date | Results | Publications |
|---|---|---|
| 2017-11-11 11:36:00 | Results identified a rare gene conversion event in TMEM231, leading to loss of exon 4, which in combination with c.712G>A missense mutation caused Joubert syndrome and in combination with c.334T>G missense mutation caused Meckel-Gruber syndrome. | 27449316 |
| 2015-06-27 13:29:00 | Tmem231 is critical for organizing the Meckel syndrome complex and controlling ciliary composition, defects in which cause OFD3 and MKS. | 25869670 |
| 2013-11-30 10:09:00 | TMEM231 represents a novel MKS locus. The very recent identification of TMEM231 mutations in Joubert syndrome supports the growing appreciation of the overlap in the molecular pathogenesis between these two ciliopathies. | 23349226 |
| 2013-03-16 12:25:00 | mutations in TMEM231 cause JBTS, reinforcing the relationship between this condition and the disruption of the barrier at the ciliary transition zone. | 23012439 |
| Type | IDs |
|---|---|
| Synonymous | ALYE870, JBTS20, MKS11, PRO1886 |
| Gene |
UniProtKB-ID:
TM231_HUMAN
UniprotKB:
Q9H6L2
UniParc:
UPI000048971A,
UPI00000704D8,
UPI0000E5DA67
EMBL:
BC016401,
AK096650,
CH471114,
BC010609,
AC025287,
AK290483,
BC063677,
AK025820,
AY358612,
AC009163
Ensembl:
ENSG00000205084
KO:
hsa:79583
|
| Nucleutide sequences |
EMBL-CDS:
AAH16401.1,
AAQ88975.1,
BAF83172.1,
EAW95632.1,
AAH10609.1,
BAG53347.1,
BAB15244.1,
AAH63677.1,
EAW95633.1
Gene_ORFName:
UNQ870/PRO1886
Ensembl_TRS:
ENST00000258173,
ENST00000568377
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000258173,
ENSP00000476267
RefSeq:
NP_001070884.2,
NP_001070886.1
|
| Others |
UniRef100:
UniRef100_Q9H6L2
UniRef90:
UniRef90_Q9H6L2
UniRef50:
UniRef50_Q9H6L2
UniGene:
Hs.156784
CCDS:
CCDS45530.1
|
| {{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