FANCL

Functionⁱ

Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway (PubMed:12973351, PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:24389026). Also mediates monoubiquitination of FANCI (PubMed:19589784). 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.6 Publications

Caution

Although PubMed:12724401 reports that it contains a PHD-type zinc finger, it contains a RING-type zinc finger. Moreover, PHD-type zinc fingers do not have any ubiquitin ligase activity.Curated

Catalytic activityⁱ

S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
4 Publications
Manual assertion based on experiment inⁱ
- Ref.5
  "A novel ubiquitin ligase is deficient in Fanconi anemia."
  Meetei A.R., de Winter J.P., Medhurst A.L., Wallisch M., Waisfisz Q., van de Vrugt H.J., Oostra A.B., Yan Z., Ling C., Bishop C.E., Hoatlin M.E., Joenje H., Wang W.
  Nat. Genet. 35:165-170(2003) [PubMed] [Europe PMC] [Abstract]
  Cited for: FUNCTION, CATALYTIC ACTIVITY, SUBCELLULAR LOCATION, INVOLVEMENT IN FANCL, INTERACTION WITH FANCA; FANCC; FANCF AND FANCG, MUTAGENESIS OF CYS-307 AND CYS-310.
- Ref.8
  "UBE2T is the E2 in the Fanconi anemia pathway and undergoes negative autoregulation."
  Machida Y.J., Machida Y., Chen Y., Gurtan A.M., Kupfer G.M., D'Andrea A.D., Dutta A.
  Mol. Cell 23:589-596(2006) [PubMed] [Europe PMC] [Abstract]
  Cited for: FUNCTION, CATALYTIC ACTIVITY, INTERACTION WITH UBE2T, UBIQUITINATION, MUTAGENESIS OF CYS-307 AND TRP-341.
- Ref.11
  "Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI."
  Alpi A.F., Pace P.E., Babu M.M., Patel K.J.
  Mol. Cell 32:767-777(2008) [PubMed] [Europe PMC] [Abstract]
  Cited for: FUNCTION, CATALYTIC ACTIVITY, INTERACTION WITH UBE2T AND UBE2W, MUTAGENESIS OF 158-TYR-PRO-159; CYS-307 AND CYS-359.
- Ref.12
  "FANCI binds branched DNA and is monoubiquitinated by UBE2T-FANCL."
  Longerich S., San Filippo J., Liu D., Sung P.
  J. Biol. Chem. 284:23182-23186(2009) [PubMed] [Europe PMC] [Abstract]
  Cited for: FUNCTION, CATALYTIC ACTIVITY, MUTAGENESIS OF CYS-307.
EC:2.3.2.27

Pathwayⁱ: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Sites

Feature key	Position(s)	DescriptionActions	Length
Metal bindingⁱ	307	Zinc 1Combined sources	1
Metal bindingⁱ	310	Zinc 1Combined sources	1
Metal bindingⁱ	324	Zinc 2Combined sources	1
Metal bindingⁱ	329	Zinc 2Combined sources	1
Metal bindingⁱ	334	Zinc 1; via pros nitrogenCombined sources	1
Metal bindingⁱ	337	Zinc 1Combined sources	1
Metal bindingⁱ	359	Zinc 2Combined sources	1
Metal bindingⁱ	362	Zinc 2Combined sources	1

Regions

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Zinc fingerⁱ	307 – 365	RING-typeAdd BLAST		59

GO - Molecular functionⁱ

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Transferase
Biological process	DNA damage, DNA repair, Ubl conjugation pathway
Ligand	Metal-binding, Zinc

Enzyme and pathway databases

Reactomeⁱ	R-HSA-6783310 Fanconi Anemia Pathway
UniPathwayⁱ	UPA00143

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: E3 ubiquitin-protein ligase FANCL (EC:2.3.2.274 Publications) Alternative name(s): Fanconi anemia group L protein Fanconi anemia-associated polypeptide of 43 kDa Short name: FAAP43 RING-type E3 ubiquitin transferase FANCLCurated
Gene namesⁱ	Name:FANCL Synonyms:PHF9
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 2

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000115392.11
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:20748 FANCL
MIMⁱ	608111 gene
neXtProtⁱ	NX_Q9NW38

Keywords - Cellular componentⁱ

Cytoplasm, Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Fanconi anemia complementation group L (FANCL)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	127 – 128	VY → AA: No effect on interaction with FANCI and FANCD2. 1 Publication	2
Mutagenesisⁱ	149	L → A: No effect on interaction with FANCI and FANCD2; when associated with A-166. 1 Publication	1
Mutagenesisⁱ	158 – 159	YP → AA: Abolishes UBE2T charging. 1 Publication	2
Mutagenesisⁱ	166	F → A: Does not affect interaction with FANCI and FANCD2; when associated with A-149. 1 Publication	1
Mutagenesisⁱ	212 – 214	WVL → AVA: Impairs interaction with FANCI and FANCD2. 1 Publication	3
Mutagenesisⁱ	248	L → A: Impairs interaction with FANCI and FANCD2; when associated with A-252, A-254 and A-265. 1 Publication	1
Mutagenesisⁱ	252	F → A: Impairs interaction with FANCI and FANCD2; when associated with A-248, A-254 and A-265. 1 Publication	1
Mutagenesisⁱ	254	L → A: Impairs interaction with FANCI and FANCD2; when associated with A-248, A-252 and A-265. 1 Publication	1
Mutagenesisⁱ	265	I → A: Impairs interaction with FANCI and FANCD2; when associated with A-248, A-252 and A-254. 1 Publication	1
Mutagenesisⁱ	307	C → A: Abolishes ubiquitin ligase activity. 5 Publications	1
Mutagenesisⁱ	309	I → A: Loss of interaction with UBE2T. 1 Publication	1
Mutagenesisⁱ	310	C → A: Abolishes ubiquitin ligase activity. 2 Publications	1
Mutagenesisⁱ	311	Y → A: Loss of interaction with UBE2T. 1 Publication	1
Mutagenesisⁱ	341	W → A: Loss of interaction with UBE2T. 1 Publication	1
Mutagenesisⁱ	341	W → G: Abolishes interaction with UBE2T and ubiquitin ligase activity. 1 Publication	1
Mutagenesisⁱ	359	C → A: Abolishes ubiquitin ligase activity. 1 Publication	1

Keywords - Diseaseⁱ

Fanconi anemia

Organism-specific databases

DisGeNET More...DisGeNETⁱ	55120
GeneReviewsⁱ	FANCL
MalaCards human disease database More...MalaCardsⁱ	FANCL
MIMⁱ	614083 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000115392
Orphanetⁱ	84 Fanconi anemia
PharmGKBⁱ	PA134887656

Polymorphism and mutation databases

BioMutaⁱ	FANCL
DMDMⁱ	116241360

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Initiator methionineⁱ		RemovedCombined sources
ChainⁱPRO_0000055908	2 – 375	E3 ubiquitin-protein ligase FANCLAdd BLAST		374

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Modified residueⁱ	2	N-acetylalanineCombined sources		1

Post-translational modificationⁱ

The RING-type zinc finger domain is monoubiquitinated in the presence of UBE2T and UBE2W.

Keywords - PTMⁱ

Acetylation, Ubl conjugation

Proteomic databases

EPDⁱ	Q9NW38
jPOSTⁱ	Q9NW38
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9NW38
PaxDbⁱ	Q9NW38
PeptideAtlas More...PeptideAtlasⁱ	Q9NW38
PRIDEⁱ	Q9NW38
ProteomicsDBⁱ	82894 82895 [Q9NW38-2]

PTM databases

iPTMnetⁱ	Q9NW38
PhosphoSitePlusⁱ	Q9NW38

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000115392 Expressed in 227 organ(s), highest expression level in corpus callosum
ExpressionAtlasⁱ	Q9NW38 baseline and differential
Genevisibleⁱ	Q9NW38 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB033842 HPA036685 HPA036686

HPAⁱ

CAB033842
HPA036685
HPA036686

Interactionⁱ

Subunit structureⁱ

Interacts with GGN (By similarity). Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM (PubMed:12973351, PubMed:15502827, PubMed:16116422, PubMed:22343915). The complex is not found in FA patients. In complex with FANCF, FANCA and FANCG, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins (PubMed:18550849). Interacts with FANCI (PubMed:21775430). Directly interacts (via the RING-type zinc finger) with UBE2T and UBE2W (PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:21775430, PubMed:24389026).By similarity10 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
CCDC36	Q8IYA8	3	EBI-2339898,EBI-8638439
CHCHD3	Q9NX63	3	EBI-2339898,EBI-743375
DOCK8	Q8NF50-2	3	EBI-2339898,EBI-10174653
EIF4ENIF1	Q9NRA8	3	EBI-2339898,EBI-301024
GRN	P28799	3	EBI-2339898,EBI-747754
IKZF3	Q9UKT9	3	EBI-2339898,EBI-747204
KIFC3	Q9BVG8	3	EBI-2339898,EBI-2125614
LZTS2	Q9BRK4	3	EBI-2339898,EBI-741037
RBM45	Q8IUH3	3	EBI-2339898,EBI-2512147
RIMBP3	Q9UFD9	3	EBI-2339898,EBI-10182375
SSX2IP	Q9Y2D8	3	EBI-2339898,EBI-2212028
TFCP2	Q12800	3	EBI-2339898,EBI-717422
UBE2T	Q9NPD8	3	EBI-16088720,EBI-2130165

GO - Molecular functionⁱ

ubiquitin protein ligase binding
Source: UniProtKB
Inferred from physical interactionⁱ
- Ref.8
  "UBE2T is the E2 in the Fanconi anemia pathway and undergoes negative autoregulation."
  Machida Y.J., Machida Y., Chen Y., Gurtan A.M., Kupfer G.M., D'Andrea A.D., Dutta A.
  Mol. Cell 23:589-596(2006) [PubMed] [Europe PMC] [Abstract]
  Cited for: FUNCTION, CATALYTIC ACTIVITY, INTERACTION WITH UBE2T, UBIQUITINATION, MUTAGENESIS OF CYS-307 AND TRP-341.
- Ref.9
  "UBE2T, the Fanconi anemia core complex, and FANCD2 are recruited independently to chromatin: a basis for the regulation of FANCD2 monoubiquitination."
  Alpi A., Langevin F., Mosedale G., Machida Y.J., Dutta A., Patel K.J.
  Mol. Cell. Biol. 27:8421-8430(2007) [PubMed] [Europe PMC] [Abstract]
  Cited for: FUNCTION, INTERACTION WITH UBE2T, MUTAGENESIS OF CYS-307 AND CYS-310.
- Ref.11
  "Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI."
  Alpi A.F., Pace P.E., Babu M.M., Patel K.J.
  Mol. Cell 32:767-777(2008) [PubMed] [Europe PMC] [Abstract]
  Cited for: FUNCTION, CATALYTIC ACTIVITY, INTERACTION WITH UBE2T AND UBE2W, MUTAGENESIS OF 158-TYR-PRO-159; CYS-307 AND CYS-359.

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	120429, 38 interactors
CORUMⁱ	Q9NW38
Database of interacting proteins More...DIPⁱ	DIP-43975N
IntActⁱ	Q9NW38, 43 interactors
Molecular INTeraction database More...MINTⁱ	Q9NW38
STRINGⁱ	9606.ENSP00000385021

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	114 – 121	Combined sources	8
Helixⁱ	123 – 125	Combined sources	3
Beta strandⁱ	126 – 129	Combined sources	4
Beta strandⁱ	133 – 141	Combined sources	9
Beta strandⁱ	147 – 153	Combined sources	7
Turnⁱ	156 – 160	Combined sources	5
Beta strandⁱ	164 – 166	Combined sources	3
Helixⁱ	183 – 196	Combined sources	14
Helixⁱ	198 – 210	Combined sources	13
Beta strandⁱ	213 – 218	Combined sources	6
Beta strandⁱ	225 – 231	Combined sources	7
Beta strandⁱ	234 – 239	Combined sources	6
Beta strandⁱ	250 – 255	Combined sources	6
Helixⁱ	257 – 270	Combined sources	14
Helixⁱ	271 – 273	Combined sources	3
Helixⁱ	280 – 288	Combined sources	9
Turnⁱ	308 – 310	Combined sources	3
Turnⁱ	327 – 329	Combined sources	3
Helixⁱ	335 – 342	Combined sources	8
Beta strandⁱ	349 – 351	Combined sources	3
Beta strandⁱ	354 – 358	Combined sources	5
Turnⁱ	360 – 362	Combined sources	3
Beta strandⁱ	365 – 369	Combined sources	5

Show more details

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	3ZQS	X-ray	2.00	A/B	109-294	[»]
	4CCG	X-ray	2.40	X/Y	288-375	[»]
ProteinModelPortalⁱ	Q9NW38
SMRⁱ	Q9NW38
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	104 – 294	UBC-RWD region (URD)Add BLAST		191

Domainⁱ

The UBC-RWD region (URD) region mediates interaction with FANCI and FANCD2.1 Publication

Zinc finger

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Zinc fingerⁱ	307 – 365	RING-typeAdd BLAST		59

Keywords - Domainⁱ

Zinc-finger

Phylogenomic databases

eggNOGⁱ	KOG3268 Eukaryota ENOG410YC2U LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000005537
HOGENOMⁱ	HOG000007643
HOVERGENⁱ	HBG045632
InParanoidⁱ	Q9NW38
KEGG Orthology (KO) More...KOⁱ	K10606
OMAⁱ	GICYSYR
Database of Orthologous Groups More...OrthoDBⁱ	1002812at2759
PhylomeDBⁱ	Q9NW38
TreeFamⁱ	TF323571

Family and domain databases

Gene3Dⁱ	3.10.110.10, 1 hit 3.30.40.10, 1 hit
InterProⁱ	View protein in InterPro IPR026848 Fancl IPR026850 FANCL_C IPR019162 FancL_WD-rpt_cont_dom IPR016135 UBQ-conjugating_enzyme/RWD IPR013083 Znf_RING/FYVE/PHD
PANTHERⁱ	PTHR13206 PTHR13206, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF11793 FANCL_C, 1 hit PF09765 WD-3, 1 hit

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q9NW38-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAVTEASLLR QCPLLLPQNR SKTVYEGFIS AQGRDFHLRI VLPEDLQLKN 
        60         70         80         90        100
ARLLCSWQLR TILSGYHRIV QQRMQHSPDL MSFMMELKML LEVALKNRQE 
       110        120        130        140        150
LYALPPPPQF YSSLIEEIGT LGWDKLVYAD TCFSTIKLKA EDASGREHLI 
       160        170        180        190        200
TLKLKAKYPA ESPDYFVDFP VPFCASWTPQ SSLISIYSQF LAAIESLKAF 
       210        220        230        240        250
WDVMDEIDEK TWVLEPEKPP RSATARRIAL GNNVSINIEV DPRHPTMLPE 
       260        270        280        290        300
CFFLGADHVV KPLGIKLSRN IHLWDPENSV LQNLKDVLEI DFPARAILEK 
       310        320        330        340        350
SDFTMDCGIC YAYQLDGTIP DQVCDNSQCG QPFHQICLYE WLRGLLTSRQ 
       360        370 
SFNIIFGECP YCSKPITLKM SGRKH

Length:375

Mass (Da):42,905

Last modified:October 17, 2006 - v2

Checksum:ⁱE217DF9D64587E5E

GO

Isoform 2 (identifier: Q9NW38-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
178-178: T → TPQVNS

« Hide

        10         20         30         40         50
MAVTEASLLR QCPLLLPQNR SKTVYEGFIS AQGRDFHLRI VLPEDLQLKN 
        60         70         80         90        100
ARLLCSWQLR TILSGYHRIV QQRMQHSPDL MSFMMELKML LEVALKNRQE 
       110        120        130        140        150
LYALPPPPQF YSSLIEEIGT LGWDKLVYAD TCFSTIKLKA EDASGREHLI 
       160        170        180        190        200
TLKLKAKYPA ESPDYFVDFP VPFCASWTPQ VNSPQSSLIS IYSQFLAAIE 
       210        220        230        240        250
SLKAFWDVMD EIDEKTWVLE PEKPPRSATA RRIALGNNVS INIEVDPRHP 
       260        270        280        290        300
TMLPECFFLG ADHVVKPLGI KLSRNIHLWD PENSVLQNLK DVLEIDFPAR 
       310        320        330        340        350
AILEKSDFTM DCGICYAYQL DGTIPDQVCD NSQCGQPFHQ ICLYEWLRGL 
       360        370        380
LTSRQSFNII FGECPYCSKP ITLKMSGRKH

Show »

Length:380

Mass (Da):43,430

Checksum:ⁱA5FA331CCC1C9C1E

GO

Computationally mapped potential isoform sequencesⁱ

There are 7 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

B5MC31	B5MC31_HUMAN	E3 ubiquitin-protein ligase FANCL E3 ubiquitin-protein ligase FANCL	FANCL	347	Annotation score:
C9JZA9	C9JZA9_HUMAN	E3 ubiquitin-protein ligase FANCL E3 ubiquitin-protein ligase FANCL	FANCL	301	Annotation score:
H7C1M0	H7C1M0_HUMAN	E3 ubiquitin-protein ligase FANCL E3 ubiquitin-protein ligase FANCL	FANCL	288	Annotation score:
B5MCZ6	B5MCZ6_HUMAN	E3 ubiquitin-protein ligase FANCL E3 ubiquitin-protein ligase FANCL	FANCL	258	Annotation score:
C9JPN7	C9JPN7_HUMAN	E3 ubiquitin-protein ligase FANCL E3 ubiquitin-protein ligase FANCL	FANCL	145	Annotation score:
C9J512	C9J512_HUMAN	E3 ubiquitin-protein ligase FANCL E3 ubiquitin-protein ligase FANCL	FANCL	158	Annotation score:
A0A087X0C0	A0A087X0C0_HUMAN	E3 ubiquitin-protein ligase FANCL E3 ubiquitin-protein ligase FANCL	FANCL	124	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	77	S → P in BAA91548 (PubMed:14702039).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_052082	144	S → F. Corresponds to variant dbSNP:rs36059257Ensembl.		1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_041727	178	T → TPQVNS in isoform 2. 1 Publication		1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AK001197 mRNA Translation: BAA91548.1 AC007250 Genomic DNA Translation: AAY15020.1 BC009042 mRNA Translation: AAH09042.1 BC054517 mRNA Translation: AAH54517.1 BC037570 mRNA No translation available.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS1860.1 [Q9NW38-1] CCDS46294.1 [Q9NW38-2]
NCBI Reference Sequences More...RefSeqⁱ	NP_001108108.1, NM_001114636.1 [Q9NW38-2] NP_060532.2, NM_018062.3 [Q9NW38-1]
UniGeneⁱ	Hs.631890

Genome annotation databases

Ensemblⁱ	ENST00000233741; ENSP00000233741; ENSG00000115392 [Q9NW38-1] ENST00000402135; ENSP00000385021; ENSG00000115392 [Q9NW38-2]
GeneIDⁱ	55120
KEGGⁱ	hsa:55120
UCSC genome browser More...UCSCⁱ	uc002rzw.5 human [Q9NW38-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9NW38-2	FA complementation group L		GORGO		380	UniRef100_G3QNB0
UPI0004F0072B		PANPA		466

Protein	Similar proteins		Species	Score	Length	Source
Q9NW38	Uncharacterized protein		CHLSB		461	UniRef90_Q9NW38
Uncharacterized protein		RHIRO		383
Uncharacterized protein		RHIBE		383
FA complementation group L		SAIBB		380
Uncharacterized protein		MANLE		380
+25
Q9NW38-2	FA complementation group L		PANTR		380	UniRef90_H2QHY0
Uncharacterized protein		MACMU		380
Uncharacterized protein		CERAT		380
Uncharacterized protein		MACFA		380
FA complementation group L		GORGO		380
+22

Protein	Similar proteins		Species	Score	Length	Source
Q9NW38	Uncharacterized protein		CHLSB		461	UniRef50_Q9NW38
Uncharacterized protein		RHIRO		383
Uncharacterized protein		RHIBE		383
Uncharacterized protein		MACFA		380
Uncharacterized protein		MANLE		380
+44
Q9NW38-2	E3 ubiquitin-protein ligase FANCL isoform 2		CALJA		375	UniRef50_U3DWB5
E3 ubiquitin-protein ligase FANCL isoform X1		DELLE		391
E3 ubiquitin-protein ligase FANCL		LIPVE		391
E3 ubiquitin-protein ligase FANCL isoform X2		NEOSC		383
E3 ubiquitin-protein ligase FANCL isoform X2		LEPWE		380
+127

Cross-referencesⁱ

Web resourcesⁱ

Fanconi Anemia Mutation Database

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AK001197 mRNA Translation: BAA91548.1 AC007250 Genomic DNA Translation: AAY15020.1 BC009042 mRNA Translation: AAH09042.1 BC054517 mRNA Translation: AAH54517.1 BC037570 mRNA No translation available.
CCDSⁱ	CCDS1860.1 [Q9NW38-1] CCDS46294.1 [Q9NW38-2]
RefSeqⁱ	NP_001108108.1, NM_001114636.1 [Q9NW38-2] NP_060532.2, NM_018062.3 [Q9NW38-1]
UniGeneⁱ	Hs.631890

3D structure databases

Select the link destinations: PDBeⁱ RCSB PDBⁱ PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	3ZQS	X-ray	2.00	A/B	109-294	[»]
	4CCG	X-ray	2.40	X/Y	288-375	[»]
ProteinModelPortalⁱ	Q9NW38
SMRⁱ	Q9NW38
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	120429, 38 interactors
CORUMⁱ	Q9NW38
DIPⁱ	DIP-43975N
IntActⁱ	Q9NW38, 43 interactors
MINTⁱ	Q9NW38
STRINGⁱ	9606.ENSP00000385021

PTM databases

iPTMnetⁱ	Q9NW38
PhosphoSitePlusⁱ	Q9NW38

Polymorphism and mutation databases

BioMutaⁱ	FANCL
DMDMⁱ	116241360

Proteomic databases

EPDⁱ	Q9NW38
jPOSTⁱ	Q9NW38
MaxQBⁱ	Q9NW38
PaxDbⁱ	Q9NW38
PeptideAtlasⁱ	Q9NW38
PRIDEⁱ	Q9NW38
ProteomicsDBⁱ	82894 82895 [Q9NW38-2]

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000233741; ENSP00000233741; ENSG00000115392 [Q9NW38-1] ENST00000402135; ENSP00000385021; ENSG00000115392 [Q9NW38-2]
GeneIDⁱ	55120
KEGGⁱ	hsa:55120
UCSCⁱ	uc002rzw.5 human [Q9NW38-1]

Organism-specific databases

CTDⁱ	55120
DisGeNETⁱ	55120
EuPathDBⁱ	HostDB:ENSG00000115392.11
GeneCardsⁱ	FANCL
GeneReviewsⁱ	FANCL
HGNCⁱ	HGNC:20748 FANCL
HPAⁱ	CAB033842 HPA036685 HPA036686
MalaCardsⁱ	FANCL
MIMⁱ	608111 gene 614083 phenotype
neXtProtⁱ	NX_Q9NW38
OpenTargetsⁱ	ENSG00000115392
Orphanetⁱ	84 Fanconi anemia
PharmGKBⁱ	PA134887656
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3268 Eukaryota ENOG410YC2U LUCA
GeneTreeⁱ	ENSGT00390000005537
HOGENOMⁱ	HOG000007643
HOVERGENⁱ	HBG045632
InParanoidⁱ	Q9NW38
KOⁱ	K10606
OMAⁱ	GICYSYR
OrthoDBⁱ	1002812at2759
PhylomeDBⁱ	Q9NW38
TreeFamⁱ	TF323571

Enzyme and pathway databases

UniPathwayⁱ	UPA00143
Reactomeⁱ	R-HSA-6783310 Fanconi Anemia Pathway

Miscellaneous databases

ChiTaRSⁱ	FANCL human
GeneWikiⁱ	FANCL
GenomeRNAiⁱ	55120
Protein Ontology More...PROⁱ	PR:Q9NW38
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000115392 Expressed in 227 organ(s), highest expression level in corpus callosum
ExpressionAtlasⁱ	Q9NW38 baseline and differential
Genevisibleⁱ	Q9NW38 HS

Family and domain databases

Gene3Dⁱ	3.10.110.10, 1 hit 3.30.40.10, 1 hit
InterProⁱ	View protein in InterPro IPR026848 Fancl IPR026850 FANCL_C IPR019162 FancL_WD-rpt_cont_dom IPR016135 UBQ-conjugating_enzyme/RWD IPR013083 Znf_RING/FYVE/PHD
PANTHERⁱ	PTHR13206 PTHR13206, 1 hit
Pfamⁱ	View protein in Pfam PF11793 FANCL_C, 1 hit PF09765 WD-3, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	FANCL_HUMAN
Accessionⁱ	Q9NW38Primary (citable) accession number: Q9NW38 Secondary accession number(s): Q6GU60
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	October 10, 2003
	Last sequence update:	October 17, 2006
	Last modified:	February 13, 2019
	This is version 165 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PATHWAY comments
Index of metabolic and biosynthesis pathways
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations

UniProtKB

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Supporting data

UniProtKB - Q9NW38 (FANCL_HUMAN)

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E3 ubiquitin-protein ligase FANCL

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Caution

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Sites

Regions

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GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Other locations

Nucleus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Zinc finger

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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Functionⁱ

Catalytic activityⁱ

Pathwayⁱ: protein ubiquitination

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ