SHPRH (SNF2 histone linker PHD RING helicase)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 257218 |
| Gene name | SNF2 histone linker PHD RING helicase |
| Gene symbol | SHPRH |
| Synonyms (NCBI Gene) |
RAD5bA545I5.2
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| Chromosome | 6 |
| Chromosome location | 6q24.3 |
| Summary | SHPRH is a ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. SHPRH is a functional homolog of S. cerevisiae RAD5 (Unk et al., 2006 [PubMed 17108083]).[supplied by OMIM |
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miRNA
miRNA information provided by mirtarbase database.
82
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
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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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Q149N8 | ||||||||||||||||||||
| Protein name | E3 ubiquitin-protein ligase SHPRH (EC 2.3.2.27) (EC 3.6.4.-) (RING-type E3 ubiquitin transferase SHPRH) (SNF2, histone-linker, PHD and RING finger domain-containing helicase) | ||||||||||||||||||||
| Protein function | E3 ubiquitin-protein ligase involved in DNA repair. Upon genotoxic stress, accepts ubiquitin from the UBE2N-UBE2V2 E2 complex and transfers it to 'Lys-164' of PCNA which had been monoubiquitinated by UBE2A/B-RAD18, promoting the formation of non | ||||||||||||||||||||
| PDB | 2M85 , 4QN1 | ||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Broadly expressed. {ECO:0000269|PubMed:12837266}. | ||||||||||||||||||||
| Sequence | |||||||||||||||||||||
| Sequence length | 1683 | ||||||||||||||||||||
| 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.).
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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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