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Mouse Anti-FAN1 Recombinant Antibody (FSCN1/417) (CBMAB-AP2195LY)


See all FAN1 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
FSCN1/417
Antibody Isotype
IgG2a, κ
Application
FC, IF, IHC, WB

Basic Information

Immunogen
Full length recombinant human FSCN1 protein
Specificity
Human
Antibody Isotype
IgG2a, κ
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
0.05% BSA
Preservative
0.05% azide
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
FANCD2 And FANCI Associated Nuclease 1
Introduction
This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5' flap endonuclease and 5'-3' exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2016]
Entrez Gene ID
22909
UniProt ID
Q9Y2M0
Alternative Names
FANCD2 And FANCI Associated Nuclease 1; FANCD2/FANCI-Associated Nuclease 1; KIAA1018; Myotubularin-Related Protein 15; MTMR15; HFAN1; Coiled-Coil Domain-Containing Protein MTMR15;
Research Area
Nuclease required for the repair of DNA interstrand cross-links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL-induced DNA breaks by being required for efficient homologous recombination, probably in the resolution of homologous recombination intermediates (PubMed:20603015, PubMed:20603016, PubMed:20603073, PubMed:20671156, PubMed:24981866, PubMed:25430771).

Not involved in DNA double-strand breaks resection (PubMed:20603015, PubMed:20603016).

Acts as a 5'-3' exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Probably keeps excising with 3'-flap annealing until it reaches and unhooks the ICL (PubMed:25430771).

Acts at sites that have a 5'-terminal phosphate anchor at a nick or a 1- or 2-nucleotide flap and is augmented by a 3' flap (PubMed:25430771).

Also has endonuclease activity toward 5'-flaps (PubMed:20603015, PubMed:20603016, PubMed:24981866).
Biological Process
DNA repair Source: UniProtKB
Double-strand break repair via homologous recombination Source: UniProtKB
Interstrand cross-link repair Source: UniProtKB
Nucleotide-excision repair Source: UniProtKB
Nucleotide-excision repair, DNA incision Source: UniProtKB
Cellular Location
Nucleus. Localizes at sites of DNA damage following recruitment by monoubiquitinated FANCD2 (PubMed:20603015, PubMed:20603016). Localizes to stalled replication forks via its UBZ4-type zinc finger (PubMed:20935496).
Involvement in disease
Interstitial nephritis, karyomegalic (KMIN):
A rare kidney disease characterized by chronic tubulointerstitial nephritis associated with massively enlarged tubular epithelial cell nuclei. The clinical picture is associated with recurrent upper respiratory tract infections in addition to chronic kidney disease beginning in the third decade of life. Schizophrenia and autism. Schizophrenia is a severe psychiatric disorder characterized by positive, negative, and cognitive symptoms, and it is associated with increased mortality and severely reduced fecundity. Autim is a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.Disease susceptibility may be associated with variants affecting the gene represented in this entry.
PTM
Ubiquitinated and degraded during mitotic exit by the APC/C-Cdh1 complex.

Rejeb, I., Jerbi, M., Jilani, H., Gaied, H., Elaribi, Y., Hizem, S., ... & Goucha, R. (2021). New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene. BMC Medical Genomics, 14(1), 1-8.

Kratz, K., Artola-Borán, M., Kobayashi-Era, S., Koh, G., Oliveira, G., Kobayashi, S., ... & Jiricny, J. (2021). FANCD2-associated nuclease 1 partially compensates for the lack of Exonuclease 1 in mismatch repair. Molecular and Cellular Biology, 41(9), e00303-21.

Zhao, X., Lu, H., & Usdin, K. (2021). FAN1’s protection against CGG repeat expansion requires its nuclease activity and is FANCD2-independent. Nucleic acids research, 49(20), 11643-11652.

Lim, S. W., Kim, B. M., Kim, K. W., Shin, Y. J., Chae, H., Ko, E. J., ... & Chung, B. H. (2020). Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c. 1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene. Stem Cell Research, 46, 101876.

Tan, W., van Twest, S., Leis, A., Bythell-Douglas, R., Murphy, V. J., Sharp, M., ... & Deans, A. J. (2020). Monoubiquitination by the human Fanconi anemia core complex clamps FANCI: FANCD2 on DNA in filamentous arrays. elife, 9, e54128.

Rikitake, M., Fujikane, R., Obayashi, Y., Oka, K., Ozaki, M., & Hidaka, M. (2020). MLH1‐mediated recruitment of FAN1 to chromatin for the induction of apoptosis triggered by O6‐methylguanine. Genes to Cells, 25(3), 175-186.

Goold, R., Flower, M., Moss, D. H., Medway, C., Wood-Kaczmar, A., Andre, R., ... & Tabrizi, S. J. (2019). FAN1 modifies Huntington’s disease progression by stabilizing the expanded HTT CAG repeat. Human molecular genetics, 28(4), 650-661.

Zhao, X. N., & Usdin, K. (2018). FAN1 protects against repeat expansions in a Fragile X mouse model. DNA repair, 69, 1-5.

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For research use only. Not intended for any clinical use.

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