SMIM1 (small integral membrane protein 1 (Vel blood group))
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 388588 |
| Gene name | Small integral membrane protein 1 (Vel blood group) |
| Gene symbol | SMIM1 |
| Synonyms (NCBI Gene) |
Vel
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| Chromosome | 1 |
| Chromosome location | 1p36.32 |
| Summary | This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants tha |
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SNPs
SNP information provided by dbSNP.
1
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
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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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B2RUZ4 | ||||||||||
| Protein name | Small integral membrane protein 1 (Vel blood group antigen) | ||||||||||
| Protein function | Regulator of red blood cell formation. | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Highly expressed in the bone marrow and expressed at lower levels in non-hematopoietic tissues. Highly expressed in erythroleukemia cell lines. Up-regulated in CD34+ hematopoietic progenitors cultured toward red blood cells. {ECO:00002 | ||||||||||
| Sequence | |||||||||||
| Sequence length | 78 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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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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Related Genes
Genes most often co-reported with SMIM1 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to SMIM1 (see Related Genes above), that are NOT already directly curated for SMIM1 itself -- a lead worth checking, not a confirmed association.
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