InterPro : IPR004483

Name  Helicase SMUBP-2/Hcs1-like Short Name  SMUBP-2/Hcs1_like
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 [].
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Sequence Features

GO Displayer

Proteins

InterPro protein domain ID --> Contigs

 

Other

0 Child Features

1 Contains

Id Name Short Name Type
IPR014001 Helicase superfamily 1/2, ATP-binding domain Helicase_ATP-bd Domain

0 Found In

0 Parent Features

4 Publications

First Author Title Year Journal Volume Pages
Grohmann K Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. 2001 Nat Genet 29 75-7
Guenther UP IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1). 2009 Hum Mol Genet 18 1288-300
Miao M The rat ortholog of the presumptive flounder antifreeze enhancer-binding protein is a helicase domain-containing protein. 2000 Eur J Biochem 267 7237-46
Biswas EE Yeast DNA helicase A: cloning, expression, purification, and enzymatic characterization. 1997 Biochemistry 36 13277-84



To cite PlanMine, please refer to the following publication:

Rozanski, A., Moon, H., Brandl, H., Martín-Durán, J. M., Grohme, M., Hüttner, K., Bartscherer, K., Henry, I., & Rink, J. C.
PlanMine 3.0—improvements to a mineable resource of flatworm biology and biodiversity
Nucleic Acids Research, gky1070. doi:10.1093/nar/gky1070 (2018)