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Identification
HMDB Protein ID HMDBP09291
Secondary Accession Numbers
  • 15121
Name E3 ubiquitin-protein ligase FANCL
Synonyms
  1. FAAP43
  2. Fanconi anemia group L protein
  3. Fanconi anemia-associated polypeptide of 43 kDa
Gene Name FANCL
Protein Type Enzyme
Biological Properties
General Function Involved in protein binding
Specific Function Ubiquitin ligase protein that mediates ubiquitination of FANCD2, a key step in the DNA damage pathway. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth
Pathways Not Available
Reactions Not Available
GO Classification
Function
ion binding
cation binding
metal ion binding
binding
transition metal ion binding
zinc ion binding
protein binding
Cellular Location
  1. Nucleus
  2. Cytoplasm
Gene Properties
Chromosome Location Chromosome:2
Locus 2p16.1
SNPs FANCL
Gene Sequence
>1128 bp
ATGGCGGTGACGGAAGCGAGCCTGTTGCGCCAGTGCCCCCTGCTTCTGCCCCAGAACCGG
TCGAAAACCGTGTATGAGGGATTCATCTCGGCTCAGGGAAGAGACTTCCACCTTAGGATA
GTGTTGCCTGAAGATTTACAACTGAAGAATGCAAGATTATTATGTAGTTGGCAGCTGAGA
ACAATACTTAGTGGATACCATCGAATAGTACAACAGAGAATGCAGCACTCTCCTGATCTA
ATGAGCTTTATGATGGAGTTGAAGATGCTTTTGGAAGTTGCCTTAAAGAATAGACAAGAG
CTGTATGCACTACCTCCTCCTCCCCAGTTCTACTCAAGCCTTATTGAAGAGATAGGAACT
CTTGGTTGGGATAAACTTGTGTATGCGGATACCTGCTTCAGTACCATCAAGTTAAAAGCA
GAAGATGCTTCTGGTAGAGAGCATTTAATCACTCTCAAGTTGAAGGCAAAGTATCCTGCA
GAATCACCAGATTATTTTGTGGATTTTCCTGTTCCATTTTGTGCCTCCTGGACACCTCAG
AGCTCCTTAATAAGCATTTATAGTCAGTTTTTGGCAGCAATAGAATCACTAAAGGCATTC
TGGGATGTTATGGATGAAATCGATGAGAAGACCTGGGTACTTGAGCCAGAAAAACCTCCA
CGGAGTGCAACAGCACGCAGAATTGCATTAGGTAATAATGTTTCCATAAATATAGAGGTA
GACCCCAGGCATCCTACTATGCTTCCTGAGTGCTTCTTTCTTGGAGCTGACCATGTGGTA
AAACCCCTGGGAATTAAGCTGAGCAGGAACATACATTTGTGGGATCCAGAAAATAGTGTG
TTACAAAATTTGAAAGATGTTTTAGAAATTGATTTTCCAGCTCGTGCTATCCTGGAAAAA
TCTGATTTTACTATGGATTGTGGAATTTGTTATGCTTATCAACTTGACGGTACCATTCCT
GATCAAGTGTGTGATAATTCTCAGTGTGGACAACCTTTCCATCAAATATGCTTATATGAG
TGGCTGAGAGGACTACTAACTAGTAGACAGAGTTTTAACATCATATTTGGTGAATGTCCA
TATTGTAGTAAGCCAATTACCTTAAAAATGTCTGGAAGGAAACACTGA
Protein Properties
Number of Residues 375
Molecular Weight 42904.2
Theoretical pI 6.42
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>E3 ubiquitin-protein ligase FANCL
MAVTEASLLRQCPLLLPQNRSKTVYEGFISAQGRDFHLRIVLPEDLQLKNARLLCSWQLR
TILSGYHRIVQQRMQHSPDLMSFMMELKMLLEVALKNRQELYALPPPPQFYSSLIEEIGT
LGWDKLVYADTCFSTIKLKAEDASGREHLITLKLKAKYPAESPDYFVDFPVPFCASWTPQ
SSLISIYSQFLAAIESLKAFWDVMDEIDEKTWVLEPEKPPRSATARRIALGNNVSINIEV
DPRHPTMLPECFFLGADHVVKPLGIKLSRNIHLWDPENSVLQNLKDVLEIDFPARAILEK
SDFTMDCGICYAYQLDGTIPDQVCDNSQCGQPFHQICLYEWLRGLLTSRQSFNIIFGECP
YCSKPITLKMSGRKH
GenBank ID Protein 62822472
UniProtKB/Swiss-Prot ID Q9NW38
UniProtKB/Swiss-Prot Entry Name FANCL_HUMAN
PDB IDs Not Available
GenBank Gene ID AC007250
GeneCard ID FANCL
GenAtlas ID FANCL
HGNC ID HGNC:20748
References
General References
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  3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
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  5. Meetei AR, Sechi S, Wallisch M, Yang D, Young MK, Joenje H, Hoatlin ME, Wang W: A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. Mol Cell Biol. 2003 May;23(10):3417-26. [PubMed:12724401 ]
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