SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1; sucrose nonfermenting protein 2-like 1; hepA-related protein; hHARP (SMARCAL1, HARP)

Function

• ATP-dependent annealing helicase
• catalyzes rewinding of stably unwound DNA
• rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA)
• acts throughout the genome to reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases & polymerases, that unwind DNA

Structure

• belongs to the SNF2/RAD54 helicase family, SMARCAL1 subfamily
• contains 2 HARP domains
• contains 1 helicase ATP-binding domain
• contains 1 helicase C-terminal domain

Compartment

nucleus (putative)

Expression

• ubiquitously expressed
• high levels in testis

Pathology

• defects in SMARCAL1 are a cause of
  • Schimke immuno-osseous dysplasia

More general terms

• SWI/SNF-related matrix-associated actin dependent regulator of chromatin subfamily A

Additional terms

• immunoosseous dysplasia, Schimke type

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=50485
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:50485
• OMIM: https://mirror.omim.org/entry/242900
• OMIM: https://mirror.omim.org/entry/606622
• UniProt: http://www.uniprot.org/uniprot/Q9NZC9.html