| Type | Description |
|---|---|
| Definition | transmembrane protein 107 |
| Date | Results | Publications |
|---|---|---|
| 2016-06-04 10:41:00 | This study shows that known MKS loci account for the overwhelming majority of MKS cases but additional loci exist including MKS13 caused by TMEM107 mutation. | 26123494 |
| 2009-10-13 08:18:00 | TMEM107 (2810049P21Rik) is a strong candidate gene for central areolar choroidal dystrophy, CACD (human 17p13). Conclusion is based on a massive expression data set for mouse (103 strains in GeneNetwork.org) and joint analysis of RetNet database. | 19727342 |
| Type | IDs |
|---|---|
| Synonymous | GRVS638, JBTS29, MKS13, PRO1268 |
| Gene |
UniProtKB-ID:
TM107_HUMAN
UniprotKB:
Q6UX40
UniParc:
UPI00001BBB36,
UPI0000200900,
UPI00000389F0,
UPI00001C0EEE
EMBL:
BC070231,
AC129492,
AY358525,
AK127891,
BC127649,
AF311338
Ensembl:
ENSG00000179029
KO:
hsa:84314
|
| Nucleutide sequences |
EMBL-CDS:
AAI27650.1,
BAC87177.1,
AAQ88889.1,
AAK38512.1,
AAH70231.1
Gene_ORFName:
UNQ638/PRO1268,
DC20
Ensembl_TRS:
ENST00000437139,
ENST00000533070,
ENST00000316425
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000436674,
ENSP00000314116,
ENSP00000402732
RefSeq:
NP_001338208.1,
NP_001338207.1,
NP_115730.2,
NP_001338209.1,
NP_898888.1
|
| Others |
UniRef100:
UniRef100_Q6UX40
UniRef90:
UniRef90_Q6UX40
UniRef50:
UniRef50_Q6UX40
UniGene:
Hs.513933
CCDS:
CCDS86572.1,
CCDS11132.1,
CCDS45607.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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}} - |
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