GPBP1 (GC-rich promoter binding protein 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 65056 |
| Gene name | GC-rich promoter binding protein 1 |
| Gene symbol | GPBP1 |
| Synonyms (NCBI Gene) |
GPBPSSH6VASCULIN
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| Chromosome | 5 |
| Chromosome location | 5q11.2 |
| Summary | This gene was originally isolated by subtractive hybridization of cDNAs expressed in atherosclerotic plaques with a thrombus, and was found to be expressed only in vascular smooth muscle cells. However, a shorter splice variant was found to be more ubiqui |
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miRNA
miRNA information provided by mirtarbase database.
242
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
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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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Q86WP2 | ||||||||||
| Protein name | Vasculin (GC-rich promoter-binding protein 1) (Vascular wall-linked protein) | ||||||||||
| Protein function | Functions as a GC-rich promoter-specific transactivating transcription factor. | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Widely expressed. Some isoforms may be specifically expressed in veins and arteries (at protein level). Isoform 4 is widely expressed. Isoform 1, isoform 2 and isoform 3 may be specifically expressed in vascular smooth muscle cells. {E | ||||||||||
| Sequence |
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| Sequence length | 473 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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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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