| Type | Description |
|---|---|
| Definition | kelch like family member 7 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-02 12:48:00 | A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features. | 31953236 |
| 2020-08-01 14:59:00 | Study found novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa | 31856884 |
| 2020-01-25 11:47:00 | A novel nonsense mutation in KLHL7 was identified in two siblings with multiple dysmorphic features and developmental delay. | 30300710 |
| 2019-03-09 10:26:00 | KLHL7 appears to play an important role in BC progression. High KLHL7 protein expression identified a subgroup of BC with aggressive behaviour and provided independent prognostic information. | 29633055 |
| 2018-07-07 11:08:00 | We have expanded the clinical spectrum of KLHL7 autosomal recessive variants by describing a syndrome with features overlapping CS/CISS1 and BOS. | 29074562 |
| Type | IDs |
|---|---|
| Synonymous | CISS3, KLHL6, SBBI26 |
| Gene |
UniProtKB-ID:
KLHL7_HUMAN,
A8K364_HUMAN,
A0A024RA10_HUMAN
UniprotKB:
Q8IXQ5,
A8K364,
A0A024RA10
UniParc:
UPI0000140D9C,
UPI00001A3E5B,
UPI00015DA73C,
UPI0000037B12,
UPI000000D768,
UPI0000D9A80A
EMBL:
AC005082,
AL136597,
CH471073,
AC006039,
AK299006,
AK056390,
AK290479,
BC039585,
BC009555,
AF111113,
EF560731,
CH236948,
AC073992
Ensembl:
ENSG00000122550
KO:
hsa:55975
|
| Nucleutide sequences |
EMBL-CDS:
EAW93774.1,
ABQ59041.1,
BAH12925.1,
BAB71175.1,
EAL24261.1,
EAW93770.1,
AAF27196.1,
AAH09555.1,
AAH39585.1,
AAO21916.1,
CAB66532.1,
EAW93773.1,
BAF83168.1,
EAW93772.1
Gene_ORFName:
hCG_1788751
Ensembl_TRS:
ENST00000339077,
ENST00000409689,
ENST00000322275,
ENST00000410047
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000386263,
ENSP00000343273,
ENSP00000386999,
ENSP00000323270
RefSeq:
XP_006715817.1,
XP_006715816.1,
XP_016867928.1,
NP_001165899.1,
XP_016867929.1,
NP_001026880.2,
XP_006715818.1,
XP_006715820.1,
XP_006715819.1,
NP_061334.4,
XP_016867930.1
|
| Others |
UniRef100:
UniRef100_Q8IXQ5,
UniRef100_A8K364,
UniRef100_A0A024RA10
UniRef90:
UniRef90_Q8IXQ5
UniRef50:
UniRef50_Q8IXQ5
UniGene:
Hs.654817
CCDS:
CCDS5378.2,
CCDS55095.1,
CCDS34609.1
|
| {{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