Protein-coding gene in humans
| SMARCAL1 |
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| Available structures |
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| PDB | Ortholog search: PDBe RCSB |
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| Identifiers |
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| Aliases | SMARCAL1, HARP, HHARP, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 |
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| External IDs | OMIM: 606622; MGI: 1859183; HomoloGene: 8558; GeneCards: SMARCAL1; OMA:SMARCAL1 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 2 (human)[1] |
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| | Band | 2q35 | Start | 216,412,414 bp[1] |
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| End | 216,483,053 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 1 (mouse)[2] |
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| | Band | 1 C3|1 36.72 cM | Start | 72,622,410 bp[2] |
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| End | 72,672,293 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - gonad
- stromal cell of endometrium
- sural nerve
- ventricular zone
- granulocyte
- ganglionic eminence
- testicle
- right adrenal cortex
- apex of heart
- islet of Langerhans
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| | Top expressed in | - primary oocyte
- zygote
- genital tubercle
- secondary oocyte
- tail of embryo
- neural layer of retina
- superior frontal gyrus
- otic vesicle
- dentate gyrus of hippocampal formation granule cell
- ventricular zone
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| | More reference expression data |
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| BioGPS |  | | More reference expression data |
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| Gene ontology |
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| Molecular function | - nucleotide binding
- ATP-dependent activity, acting on DNA
- protein binding
- hydrolase activity
- ATP binding
- helicase activity
- ATP-dependent DNA/DNA annealing activity
| | Cellular component | - site of double-strand break
- DNA replication factor A complex
- nucleus
- nucleoplasm
- nuclear replication fork
| | Biological process | - regulation of transcription by RNA polymerase II
- DNA metabolic process
- cellular response to DNA damage stimulus
- t-circle formation
- DNA repair
- replication fork processing
- DNA rewinding
- replication fork protection
| | Sources:Amigo / QuickGO |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 is a protein that in humans is encoded by the SMARCAL1 gene.[5][6][7]
Function
The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The SMARCAL1 protein convert RPA-bound, single stranded DNA into double-stranded DNA, an enzyme activity termed "annealing helicase".[8]
The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency.[7]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000138375 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039354 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Muthuswami R, Truman PA, Mesner LD, Hockensmith JW (Mar 2000). "A eukaryotic SWI2/SNF2 domain, an exquisite detector of double-stranded to single-stranded DNA transition elements". The Journal of Biological Chemistry. 275 (11): 7648–55. doi:10.1074/jbc.275.11.7648. PMID 10713074.
- ^ Coleman MA, Eisen JA, Mohrenweiser HW (May 2000). "Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse". Genomics. 65 (3): 274–82. CiteSeerX 10.1.1.186.4879. doi:10.1006/geno.2000.6174. PMID 10857751.
- ^ a b "Entrez Gene: SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1".
- ^ Yusufzai T, Kadonaga JT (Oct 2008). "HARP is an ATP-driven annealing helicase". Science. 322 (5902): 748–50. Bibcode:2008Sci...322..748Y. doi:10.1126/science.1161233. PMC 2587503. PMID 18974355.
- Lay summary in: "Biologists Discover Motor Protein That Rewinds DNA". ScienceDaily (Press release). November 2, 2008.
Further reading
- Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW (Feb 2002). "Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia". Nature Genetics. 30 (2): 215–20. doi:10.1038/ng821. PMID 11799392. S2CID 8954897.
- Lou S, Lamfers P, McGuire N, Boerkoel CF (Dec 2002). "Longevity in Schimke immuno-osseous dysplasia". Journal of Medical Genetics. 39 (12): 922–5. doi:10.1136/jmg.39.12.922. PMC 1757210. PMID 12471207.
- Bökenkamp A, deJong M, van Wijk JA, Block D, van Hagen JM, Ludwig M (Dec 2005). "R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia". Pediatric Nephrology. 20 (12): 1724–8. doi:10.1007/s00467-005-2047-x. PMID 16237566. S2CID 35371382.
- Clewing JM, Antalfy BC, Lücke T, Najafian B, Marwedel KM, Hori A, Powel RM, Do AF, Najera L, SantaCruz K, Hicks MJ, Armstrong DL, Boerkoel CF (Feb 2007). "Schimke immuno-osseous dysplasia: a clinicopathological correlation". Journal of Medical Genetics. 44 (2): 122–30. doi:10.1136/jmg.2006.044313. PMC 2598061. PMID 16840568.
External links
- GeneReviews/NCBI/NIH/UW entry on Schimke Immunoosseous Dysplasia
