Gene: SNAPC5

Alternate names for this Gene: SNAP19

Gene Summary: This gene encodes a subunit of the small nuclear RNA (snRNA)-activating protein complex that plays a role in the transcription of snRNA genes. This complex binds to the promoters of snRNA genes transcribed by either RNA polymerase II or III and recruits other regulatory factors to activate snRNA gene transcription. The encoded protein may play a role in stabilizing this complex. A pseudogene of this gene has been identified on chromosome 6.

Gene is located in Chromosome: 15

Location in Chromosome : 15q22.31

Description of this Gene: small nuclear RNA activating complex polypeptide 5

Type of Gene: protein-coding

Gene: MAP2K1

Alternate names for this Gene: CFC3|MAPKK1|MEK1|MEL|MKK1|PRKMK1

Gene Summary: The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development.

Gene is located in Chromosome: 15

Location in Chromosome : 15q22.31

Description of this Gene: mitogen-activated protein kinase kinase 1

Type of Gene: protein-coding

rs1057519735 in SNAPC5;MAP2K1 gene and melanoma PMID 22197931 2011 Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.