NSFL1C (NSFL1 cofactor)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 55968 |
| Gene name | NSFL1 cofactor |
| Gene symbol | NSFL1C |
| Synonyms (NCBI Gene) |
P47UBX1UBXD10UBXN2CdJ776F14.1
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| Chromosome | 20 |
| Chromosome location | 20p13 |
| Summary | N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a h |
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miRNA
miRNA information provided by mirtarbase database.
130
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Transcription factors
Transcription factors information provided by TRRUST V2 database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
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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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Q9UNZ2 | ||||||||||||||||||||
| Protein name | NSFL1 cofactor p47 (UBX domain-containing protein 2C) (p97 cofactor p47) | ||||||||||||||||||||
| Protein function | Reduces the ATPase activity of VCP (By similarity). Necessary for the fragmentation of Golgi stacks during mitosis and for VCP-mediated reassembly of Golgi stacks after mitosis (By similarity). May play a role in VCP-mediated formation of transi | ||||||||||||||||||||
| PDB | 1SS6 , 8HRZ | ||||||||||||||||||||
| Family and domains |
Pfam
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| Sequence |
MAAERQEALREFVAVTGAEEDRARFFLESAGWDLQIALASFYEDGGDEDIVTISQATPSS |
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| Sequence length | 370 | ||||||||||||||||||||
| 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.).
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 NSFL1C across shared curated disease and pathway associations.
0
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to NSFL1C (see Related Genes above), that are NOT already directly curated for NSFL1C itself -- a lead worth checking, not a confirmed association.
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