NME1 Gene Summary [Human]
This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by this gene) and 'B' (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally-occurring transcripts (NME1-NME2), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | NME1 |
| Official Name | NME/NM23 nucleoside diphosphate kinase 1 [Source:HGNC Symbol;Acc:HGNC:7849] |
| Ensembl ID | ENSG00000239672 |
| Bio databases IDs | |
| Aliases | NME/NM23 nucleoside diphosphate kinase 1 |
| Synonyms | AWD, GAAD, NB, NBS, NDKA, NDPK-A, NM23, NM23-H1, NME/NM23 nucleoside diphosphate kinase 1 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NME1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- nucleoside diphosphate kinase
- 3'-5' exonuclease
- Kpn loop
- ATP binding
- protein binding
- magnesium ion binding
- identical protein binding
- kinase
- GTP binding
- DNase
- Nucleoside diphosphate kinase family
- NDPk
- p53-binding domain
- ribosomal small subunit binding
Pathways
Biological processes and signaling networks where the NME1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- cancer
- epithelial neoplasia
- epithelial cancer
- liver neoplasia
- metastasis
- brain cancer
- prostate cancer
- melanoma
- melanoma cancer
role in cell
- expression in
- migration
- growth
- proliferation
- phosphorylation in
- activation in
- apoptosis
- invasion
- degradation in
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cell surface
- perinuclear region
- cell cortex
- Nucleus
- centrosome
- midbody
- metaphase plate
- cytosol
- membrane ruffles
- early endosomes
- mitotic spindle
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NME1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- CTP biosynthetic process
- negative regulation of cell proliferation
- GTP biosynthetic process
- nervous system development
- regulation of apoptotic process
- lactation
- positive regulation of DNA binding
- endocytosis
- DNA metabolic process
- UTP biosynthetic process
- cell differentiation
- positive regulation of epithelial cell proliferation
Cellular Component
Where in the cell the gene product is active
- nucleus
- early endosome
- extracellular vesicular exosome
- cytoplasm
- membrane
- ruffle membrane
- cytosol
Molecular Function
What the gene product does at the molecular level
- GTP binding
- magnesium ion binding
- ATP binding
- 3'-5' exonuclease activity
- identical protein binding
- protein binding
- RNA binding
- deoxyribonuclease activity
- ribosomal small subunit binding
- nucleoside diphosphate kinase activity