SLC44A1 (solute carrier family 44 member 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 23446 |
| Gene name | Solute carrier family 44 member 1 |
| Gene symbol | SLC44A1 |
| Synonyms (NCBI Gene) |
CD92CDW92CHTL1CONATOCCTL1
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| Chromosome | 9 |
| Chromosome location | 9q31.1-q31.2 |
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SNPs
SNP information provided by dbSNP.
1
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miRNA
miRNA information provided by mirtarbase database.
830
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q8WWI5 | ||||||||||
| Protein name | Choline transporter-like protein 1 (CDw92) (Solute carrier family 44 member 1) (CD antigen CD92) | ||||||||||
| Protein function | Choline/H+ antiporter (PubMed:19357133, PubMed:23651124, PubMed:31855247, PubMed:33789160). Also acts as a high-affinity ethanolamine/H+ antiporter, regulating the supply of extracellular ethanolamine (Etn) for the CDP-Etn pathway, redistribute | ||||||||||
| PDB | 7WWB | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in various cells of the hematopoietic system. {ECO:0000269|PubMed:11698453}. | ||||||||||
| Sequence |
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| Sequence length | 657 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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