Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
8542 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Apolipoprotein L1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
APOL1 |
SynonymsGene synonyms aliases
|
APO-L, APOL, APOL-I, FSGS4 |
ChromosomeChromosome number
|
22 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
22q12.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma an |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs60910145 |
T>G |
Risk-factor, not-provided, pathogenic |
Coding sequence variant, missense variant |
rs71785313 |
TTATAA>- |
Risk-factor, pathogenic |
Inframe deletion, coding sequence variant |
rs73885319 |
A>G |
Risk-factor, not-provided, pathogenic |
Coding sequence variant, missense variant |
rs1428826948 |
T>G |
Risk-factor |
Synonymous variant, coding sequence variant |
rs1569534160 |
A>G |
Risk-factor |
Missense variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
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Protein
|
UniProt ID |
O14791 |
Protein name |
Apolipoprotein L1 (Apolipoprotein L) (Apo-L) (ApoL) (Apolipoprotein L-I) (ApoL-I) |
Protein function |
May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver. |
PDB |
7L6K
,
7LF7
,
7LFA
,
7LFB
,
7LFD
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF05461 |
ApoL |
78 → 392 |
Apolipoprotein L |
Family |
|
Sequence |
|
Sequence length |
398 |
Interactions |
View interactions |