| Type | Description |
|---|---|
| Definition | ALMS1 centrosome and basal body associated protein |
| Date | Results | Publications |
|---|---|---|
| 2021-02-20 13:34:00 | [Analysis of ALMS1 gene variants in seven patients with Alstrom syndrome]. | 33565060 |
| 2021-01-16 15:53:00 | Phenotypic and mutational spectrum of 21 Chinese patients with Alstrom syndrome. | 31755649 |
| 2020-12-12 13:28:00 | Association between ALMS 1 variants and early-onset coronary artery disease: a case-control study in Chinese population. | 32808654 |
| 2020-05-09 13:48:00 | This review presents mechanistic details on the role of ALMS1 in several processes including endosomal trafficking, actin organisation, maintenance of centrosome cohesion and transcription. In line with a more complex picture, multiple isoforms of the protein likely exist and non-centrosomal sites of localisation have been reported. This review outlines the evidence for both ciliary and extra-ciliary functions [review] | 30421101 |
| 2020-04-04 11:17:00 | Homozygous mutations in the ALMS1 gene is associated with Non-syndromic retinal dystrophy. | 30488743 |
| Type | IDs |
|---|---|
| Synonymous | ALSS |
| Gene |
UniProtKB-ID:
ALMS1_HUMAN
UniprotKB:
Q8TCU4
UniParc:
UPI00046209B2,
UPI000CECE348,
UPI000CECE34F
EMBL:
AC096546,
BC050330,
AC074008,
AB002326,
AJ417593,
BC035025,
KF573641,
AC092653
Ensembl:
ENSG00000116127
KO:
hsa:7840
|
| Nucleutide sequences |
EMBL-CDS:
AAX82023.1,
BAA20786.3,
AAH50330.1,
AAH35025.1,
CAD10391.2,
AAY24208.1
Ensembl_TRS:
ENST00000613296
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000482968
RefSeq:
NP_001365383.1,
NP_055935.4
|
| Others |
UniRef100:
UniRef100_Q8TCU4
UniRef90:
UniRef90_Q8TCU4
UniRef50:
UniRef50_Q8TCU4
UniGene:
Hs.184720
|
| {{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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