SEC23IP (SEC23 interacting protein)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 11196 |
| Gene name | SEC23 interacting protein |
| Gene symbol | SEC23IP |
| Synonyms (NCBI Gene) |
MSTP053P125P125AiPLA1AiPLA1beta
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| Chromosome | 10 |
| Chromosome location | 10q26.11-q26.12 |
| Summary | This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. |
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miRNA
miRNA information provided by mirtarbase database.
751
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
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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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Q9Y6Y8 | |||||||||||||||
| Protein name | SEC23-interacting protein (p125) | |||||||||||||||
| Protein function | Plays a role in the organization of endoplasmic reticulum exit sites. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P) and phosphatidylinositol 5-phosphate (PI(5)P). {ECO:0000269|PubMed:1 | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Ubiquitously expressed with stronger levels detected in heart, liver and skeletal muscle. {ECO:0000269|PubMed:10400679}. | |||||||||||||||
| Sequence |
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| Sequence length | 1000 | |||||||||||||||
| 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.).
10
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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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