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FANCL
HPA
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  • SUMMARY

  • TISSUE

  • BRAIN

  • SINGLE CELL

  • SUBCELL

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  • BLOOD

  • CELL LINE

  • STRUCT & INT

  • FANCL
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

FANCL
Synonyms FAAP43, FLJ10335, PHF9, Pog
Gene descriptioni

Full gene name according to HGNC.

FA complementation group L
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Enzymes
Human disease related genes
Metabolic proteins
Potential drug targets
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 2
Cytoband p16.1
Chromosome location (bp) 58159243 - 58241410
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

33
Ensembl ENSG00000115392 (version 109)
Entrez gene 55120
HGNC HGNC:20748
UniProt Q9NW38 (UniProt - Evidence at protein level)
neXtProt NX_Q9NW38
GeneCards FANCL
Antibodypedia FANCL antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway 1, 2, 3, 4, 5. Also mediates monoubiquitination of FANCI 6. May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Transferase
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

DNA damage, DNA repair, Ubl conjugation pathway
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

Metal-binding, Zinc
Gene summary (Entrez)i

Useful information about the gene from Entrez

This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2018]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
FANCL-201
ENSP00000233741
ENST00000233741
Q9NW38
[Direct mapping] E3 ubiquitin-protein ligase FANCL
Show all
Enzymes
   ENZYME proteins
   Transferases
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Potential drug targets
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785 [chromatin]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005635 [nuclear envelope]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006513 [protein monoubiquitination]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0007276 [gamete generation]
GO:0016567 [protein ubiquitination]
GO:0016604 [nuclear body]
GO:0016740 [transferase activity]
GO:0031625 [ubiquitin protein ligase binding]
GO:0036297 [interstrand cross-link repair]
GO:0042127 [regulation of cell population proliferation]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043240 [Fanconi anaemia nuclear complex]
GO:0046872 [metal ion binding]
GO:0061630 [ubiquitin protein ligase activity]
Show all
375 aa
42.9 kDa
No 0
FANCL-202
ENSP00000385021
ENST00000402135
Q9NW38
[Direct mapping] E3 ubiquitin-protein ligase FANCL
Show all
Enzymes
   ENZYME proteins
   Transferases
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Potential drug targets
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785 [chromatin]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006513 [protein monoubiquitination]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0016567 [protein ubiquitination]
GO:0016604 [nuclear body]
GO:0016740 [transferase activity]
GO:0031625 [ubiquitin protein ligase binding]
GO:0036297 [interstrand cross-link repair]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043240 [Fanconi anaemia nuclear complex]
GO:0046872 [metal ion binding]
GO:0061630 [ubiquitin protein ligase activity]
Show all
380 aa
43.4 kDa
No 0
FANCL-203
ENSP00000386097
ENST00000403295
B5MC31
[Direct mapping] E3 ubiquitin-protein ligase FANCL
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0016567 [protein ubiquitination]
GO:0016604 [nuclear body]
GO:0036297 [interstrand cross-link repair]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043240 [Fanconi anaemia nuclear complex]
GO:0046872 [metal ion binding]
Show all
347 aa
39.8 kDa
No 0
FANCL-206
ENSP00000400969
ENST00000427708
H7C1M0
[Direct mapping] E3 ubiquitin-protein ligase FANCL
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0016567 [protein ubiquitination]
GO:0016604 [nuclear body]
GO:0036297 [interstrand cross-link repair]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043240 [Fanconi anaemia nuclear complex]
GO:0046872 [metal ion binding]
Show all
390 aa
44.5 kDa
No 0
FANCL-207
ENSP00000390991
ENST00000446381
C9J512
[Direct mapping] E3 ubiquitin-protein ligase FANCL
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0016567 [protein ubiquitination]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
GO:0046872 [metal ion binding]
Show all
227 aa
25.7 kDa
No 0
FANCL-208
ENSP00000401280
ENST00000449070
C9JZA9
[Direct mapping] E3 ubiquitin-protein ligase FANCL
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0016567 [protein ubiquitination]
GO:0016604 [nuclear body]
GO:0036297 [interstrand cross-link repair]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043240 [Fanconi anaemia nuclear complex]
GO:0046872 [metal ion binding]
Show all
316 aa
35.8 kDa
No 0
FANCL-210
ENSP00000483263
ENST00000481670
A0A087X0C0
[Direct mapping] E3 ubiquitin-protein ligase FANCL
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0016567 [protein ubiquitination]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
142 aa
16.4 kDa
No 0
FANCL-211
ENSP00000512543
ENST00000696305
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
356 aa
40.6 kDa
No 0
FANCL-213
ENSP00000512545
ENST00000696307
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
370 aa
42.3 kDa
No 0
FANCL-214
ENSP00000512546
ENST00000696308
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
156 aa
18.1 kDa
No 0
FANCL-217
ENSP00000512554
ENST00000696316
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
336 aa
38.5 kDa
No 0
FANCL-220
ENSP00000512557
ENST00000696319
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
361 aa
41.1 kDa
No 0
FANCL-222
ENSP00000512558
ENST00000696321
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
164 aa
18.1 kDa
No 0
FANCL-225
ENSP00000512562
ENST00000696326
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
395 aa
45 kDa
No 0
FANCL-243
ENSP00000512586
ENST00000696371
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
372 aa
42.5 kDa
No 0
FANCL-262
ENSP00000512606
ENST00000696403
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
123 aa
14.1 kDa
No 0
FANCL-273
ENSP00000512614
ENST00000696418
Metabolic proteins
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
146 aa
17.2 kDa
No 0
FANCL-277
ENSP00000512628
ENST00000696434
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
321 aa
36.3 kDa
No 0
FANCL-291
ENSP00000512646
ENST00000696461
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
207 aa
23.8 kDa
No 0
FANCL-301
ENSP00000512653
ENST00000696476
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
228 aa
25.8 kDa
No 0
FANCL-303
ENSP00000512654
ENST00000696478
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
83 aa
9.6 kDa
No 0
FANCL-314
ENSP00000512676
ENST00000696510
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
199 aa
22.6 kDa
No 0
FANCL-319
ENSP00000512692
ENST00000696530
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
307 aa
34.8 kDa
No 0
FANCL-327
ENSP00000512707
ENST00000696547
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
371 aa
42.2 kDa
No 0
FANCL-329
ENSP00000512709
ENST00000696549
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
212 aa
24.3 kDa
No 0
FANCL-330
ENSP00000512710
ENST00000696550
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
218 aa
25.1 kDa
No 0
FANCL-335
ENSP00000512724
ENST00000696567
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
340 aa
38.9 kDa
No 0
FANCL-339
ENSP00000512739
ENST00000696594
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
242 aa
27.8 kDa
No 0
FANCL-340
ENSP00000512740
ENST00000696595
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
223 aa
25.5 kDa
No 0
FANCL-343
ENSP00000512743
ENST00000696598
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
223 aa
25.2 kDa
No 0
FANCL-345
ENSP00000512759
ENST00000696620
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
239 aa
27.4 kDa
No 0
FANCL-349
ENSP00000512761
ENST00000696624
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
352 aa
40.3 kDa
No 0
FANCL-352
ENSP00000512771
ENST00000696635
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
367 aa
42.1 kDa
No 0

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