| Type | Description |
|---|---|
| Definition | aryl hydrocarbon receptor interacting protein like 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-13 13:21:00 | Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration. | 33067476 |
| 2021-01-30 13:02:00 | A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. | 31342828 |
| 2020-11-28 13:12:00 | Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1. | 32214115 |
| 2020-11-21 13:18:00 | Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases. | 32976546 |
| 2020-06-06 11:15:00 | This study sheds new light on the versatility of tetratricopeptide repeat domain (TPR) domains in protein folding by describing a novel TPR-protein binding partner, Pgamma, and revealing that this subunit imparts AIPL1 selectivity for its client. | 31488544 |
| Type | IDs |
|---|---|
| Synonymous | AIPL2, LCA4 |
| Gene |
UniProtKB-ID:
AIPL1_HUMAN,
F1T0B5_HUMAN,
F1T0B6_HUMAN,
Q7Z3H1_HUMAN,
F1T0C0_HUMAN,
F1T0C4_HUMAN
UniprotKB:
Q9NZN9,
F1T0B5,
F1T0B6,
Q7Z3H1,
F1T0C0,
F1T0C4
UniParc:
UPI0002003FCC,
UPI00005B2E0A,
UPI00001A9D17,
UPI0002003FCB,
UPI000043DEA8,
UPI000041E378,
UPI000043DEA7,
UPI00000720CD,
UPI0000125741
EMBL:
AB593052,
AB593051,
AB593047,
AF525970,
AB593050,
AB593048,
CH471108,
BC012055,
AJ830742,
AB593055,
AK023970,
AB593043,
AF180472,
AB593054,
AB593046,
AC055872,
AB593049,
AJ830743,
AB593044,
AB593053,
AF148864,
AB593042,
AB593045,
BX537907,
AJ633677,
KF456237
Ensembl:
ENSG00000129221
KO:
hsa:23746
|
| Nucleutide sequences |
EMBL-CDS:
BAJ84001.1,
AAM88405.1,
CAH25996.1,
CAG17882.1,
EAW90314.1,
CAH25995.1,
EAW90313.1,
BAJ84000.1,
EAW90312.1,
AAF26708.1,
AAH12055.1,
EAW90310.1,
BAB14744.1,
AAF74023.1,
BAJ83989.1,
BAJ83997.1,
BAJ83993.1,
BAJ83992.1,
BAJ84002.1,
BAJ83990.1,
BAJ83999.1,
BAJ83991.1,
BAJ83996.1,
EAW90311.1,
CAD97892.1,
BAJ83994.1,
BAJ83995.1,
BAJ83998.1,
EAW90315.1
Gene_ORFName:
hCG_32821,
hCG_32821
Ensembl_TRS:
ENST00000576307,
ENST00000381129,
ENST00000250087,
ENST00000570466,
ENST00000576776,
ENST00000571740,
ENST00000574506,
ENST00000575265
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000461287,
ENSP00000370521,
ENSP00000250087,
ENSP00000460827,
ENSP00000459522,
ENSP00000460134,
ENSP00000458456,
ENSP00000459673
RefSeq:
NP_055151.3,
NP_001272329.1,
NP_001028227.1,
NP_001272330.1,
NP_001028226.1,
NP_001272328.1,
NP_001272332.1,
NP_001272331.1
|
| Others |
UniRef100:
UniRef100_Q7Z3H1,
UniRef100_F1T0C4,
UniRef100_Q9NZN9,
UniRef100_F1T0B5
UniRef90:
UniRef90_F7D0K7,
UniRef90_Q9NZN9,
UniRef90_F1T0C4
UniRef50:
UniRef50_F6YMM2,
UniRef50_A0A1S3EW09,
UniRef50_Q9NZN9
UniGene:
Hs.279887
CCDS:
CCDS32539.1,
CCDS32540.1,
CCDS67133.1,
CCDS67130.1,
CCDS11075.1
|
| {{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