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ABCA13 (ATP binding cassette subfamily A member 13) |
| Gene | |||||||||||||||||||||||||||||||
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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154664 | ||||||||||||||||||||||||||||||
Gene nameGene Name - the full gene name approved by the HGNC.
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ATP binding cassette subfamily A member 13 | ||||||||||||||||||||||||||||||
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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ABCA13 | ||||||||||||||||||||||||||||||
SynonymsGene synonyms aliases
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ChromosomeChromosome number
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7 | ||||||||||||||||||||||||||||||
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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7p12.3 | ||||||||||||||||||||||||||||||
SummarySummary of gene provided in NCBI Entrez Gene.
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In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009] | ||||||||||||||||||||||||||||||
SNPsSNP information provided by dbSNP.
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||||||||||||||||||||||
| UniProt ID | Q86UQ4 | ||||||||||||||||||||||||||||||
| Protein name | ATP-binding cassette sub-family A member 13 (EC 7.6.2.-) | ||||||||||||||||||||||||||||||
| Protein function | May mediate the cholesterol and gangliosides transport from the plasma membrane to intracellular vesicles in an ATP hydrolysis dependent manner, thus playing a role in their internalization by endocytic retrograde transport and may also participate in the endocytosis of synaptic vesicle in cortical neurons. | ||||||||||||||||||||||||||||||
| Family and domains |
Pfam
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Sequence |
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| Sequence length | 5058 | ||||||||||||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||||||||||||
| © 2021, Biomedical Informatics Centre, NIRRH |
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