| Type | Description |
|---|---|
| Definition | ADAMTS like 4 |
| Date | Results | Publications |
|---|---|---|
| 2017-12-02 12:11:00 | A recurrent pathogenic ADAMTSL4 variant is a major cause of early onset autosomal recessive ectopia lentis in a Cook Island Maori population and associated with a common haplotype, suggesting a founder effect. | 28394649 |
| 2016-10-29 11:04:00 | study reports a novel founder mutation in ADAMTSL4 gene in children of Bukharian Jewish origin presenting with early-onset bilateral ectopia lentis | 26653794 |
| 2016-06-11 11:09:00 | ADAMTSL4 mutations are the main cause for isolated ectopia lentis with an early onset of symptoms and possible severe ocular complications. | 25975359 |
| 2015-06-27 10:57:00 | Compound heterozygous c.1783dupT and c. 2594G>A mutations of ADAMTSL4 gene were causative mutations for this family with isolated non-syndromic ectopia lentis | 24802351 |
| 2013-10-26 11:06:00 | We have confirmed the gene and protein expression of ADAMTSL4 in human ocular tissue. The pattern of expression may suggest further functions of this gene beyond those suggested by its causative role in isolated ectopia lentis. | 23846871 |
| Type | IDs |
|---|---|
| Synonymous | ADAMTSL-4, ECTOL2, TSRC1 |
| Gene |
UniProtKB-ID:
ATL4_HUMAN,
Q9UFG7_HUMAN,
A0A669KBE7_HUMAN,
B7ZMJ3_HUMAN
UniprotKB:
Q6UY14,
Q9UFG7,
A0A669KBE7,
B7ZMJ3
UniParc:
UPI000006D6CD,
UPI0001AE7902,
UPI000189A80F,
UPI0000050266,
UPI00001E0572,
UPI0003D6D837
EMBL:
BC140800,
AY358122,
AL356356,
AF217974,
AL122085,
BC027478,
BC144581,
BC071852,
BC094811
Ensembl:
ENSG00000143382
KO:
hsa:54507
|
| Nucleutide sequences |
EMBL-CDS:
AAG17217.1,
AAI40801.1,
AAQ88489.1,
CAI15499.1,
AAH71852.1,
AAH27478.2,
AAH94811.1,
CAI15500.2,
CAB59258.1,
AAI44582.1
Gene_ORFName:
PP1396,
UNQ2803/PRO34012
Ensembl_TRS:
ENST00000369041,
ENST00000674043,
ENST00000369039,
ENST00000369038,
ENST00000271643,
ENST00000674058
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000358037,
ENSP00000358035,
ENSP00000271643,
ENSP00000501295,
ENSP00000358034,
ENSP00000501255
RefSeq:
NP_079284.2,
XP_011507951.1,
XP_011507950.1,
XP_011507953.1,
XP_016856996.1,
NP_001365525.1,
XP_011507947.1,
NP_001275537.1,
NP_061905.2,
XP_011507954.1,
XP_016856995.1,
XP_011507952.1,
XP_011507946.1,
NP_001275536.1
|
| Others |
UniRef100:
UniRef100_B7ZMJ3,
UniRef100_Q6UY14-3,
UniRef100_A0A669KBE7,
UniRef100_Q6UY14
UniRef90:
UniRef90_Q6UY14
UniRef50:
UniRef50_Q6UY14
UniGene:
Hs.516243
CCDS:
CCDS30852.1,
CCDS72908.1,
CCDS955.1
|
| {{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