|  Help  |  About  |  Contact Us

Search our database by keyword

- or -

Examples

  • Search this entire website. Enter identifiers, names or keywords for genes, diseases, strains, ontology terms, etc. (e.g. Pax6, Parkinson, ataxia)
  • Use OR to search for either of two terms (e.g. OR mus) or quotation marks to search for phrases (e.g. "dna binding").
  • Boolean search syntax is supported: e.g. Balb* for partial matches or mus AND NOT embryo to exclude a term

Search results 1 to 1 out of 1 for Ighmbp2

Category restricted to ProteinDomain (x)

0.016s

Categories

Category: ProteinDomain
Type Details Score
Protein Domain
Type: Family
Description: Proteins in this entry belong to the DNA2/NAM7 helicase family, including SMUBP-2 from humans, DNA polymerase alpha-associated DNA helicase A (also konwn as Hcs1) from budding yeasts and some putative helicases from prokaryotes. DNA-binding protein SMUBP-2 (also known as IGHMBP2, CATF1) is a 5' to 3' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction []. It acts as a transcription regulator. It exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron []. It binds to 5'-phosphorylated single-stranded guanine-rich DNA sequence related to the immunoglobulin mu chain switch region. It preferentially binds to the 5'-GGGCT-3' motif. It also interacts with tRNA-Tyr []. In human, defects in IGHMBP2 are the cause of distal hereditary motor neuronopathy type 6 (HMN6); also known as spinal muscular atrophy distal autosomal recessive 1 (DSMA1) or spinal muscular atrophy with respiratory distress 1 (SMARD1) [].Hcs1 may be involved in DNA replication [].