| Type | Description |
|---|---|
| Definition | major intrinsic protein of lens fiber |
| Date | Results | Publications |
|---|---|---|
| 2019-03-30 11:49:00 | The novel missense mutation c.572C>Gp.P191Rat exon 3 of the MIP gene was identified in a Chinese family of congenital cataract. The mutation affects the traffic of MIP protein in the cells and reduces the expression level of MIP protein in the cell membrane. | 29947569 |
| 2019-01-19 10:03:00 | Our study generated genetic and primary functional evidence for a novel c.682_683delAA mutation in MIP that expands the variant spectrum of MIP and help us better understand the molecular basis of cataract. | 29695758 |
| 2018-10-20 10:46:00 | Study presented genetic and functional evidence for a novel major intrinsic protein mutation of G212R, which leads to congenital progressive cortical punctate with or without Y suture. | 28059152 |
| 2018-06-30 11:00:00 | In summary, whole-exome sequencing identifies a novel heterozygous missense variant (c.402G > T) in rarely reported cataract gene of MIP in an unconsanguineous marriage of three-generation Chinese family with congenital cataracts. | 28836894 |
| 2017-06-03 10:24:00 | The data evidence a broad lipidation profile of AQP0 that is both species and site independent, suggesting a chemical-based ester aminolysis mechanism to explain such modifications. | 27378310 |
| Type | IDs |
|---|---|
| Synonymous | AQP0, CTRCT15, LIM1, MIP26, MP26 |
| Gene |
UniProtKB-ID:
MIP_HUMAN
UniprotKB:
P30301
UniParc:
UPI000012F154
EMBL:
BC074913,
BC117474,
AC024884,
U36308
Ensembl:
ENSG00000135517
KO:
hsa:4284
|
| Nucleutide sequences |
EMBL-CDS:
AAH74913.1,
AAI17475.1,
AAC02794.2
Ensembl_TRS:
ENST00000652304
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000498622
RefSeq:
NP_036196.1,
XP_011536656.1,
XP_016874795.1
|
| Others |
UniRef100:
UniRef100_P30301
UniRef90:
UniRef90_P30301
UniRef50:
UniRef50_P30301
UniGene:
Hs.574026
CCDS:
CCDS8919.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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}} - |
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