FANCL - FA complementation group L Gene

Also Known as POG; PHF9; FAAP43

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55120

About FANCL

Cytogenetic location: 2p16.1 Genomic coordinates (GRCh38): 2:58,159,243-58,241,380 (from NCBI)

This gene has 156 transcripts (splice variants), 204 orthologues and is associated with 5 phenotypes. Ubiquitous expression in adrenal (RPKM 16.9), testis (RPKM 12.0) and 25 other tissues.

Summary

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]

FANCL Products (4)

mRNA	Protein	Name
NM_001114636.1	NP_001108108.1	E3 ubiquitin-protein ligase FANCL isoform 1
NM_001374615.1	NP_001361544.1	E3 ubiquitin-protein ligase FANCL isoform 3
NM_001410792.1	NP_001397721.1	E3 ubiquitin-protein ligase FANCL isoform 4
NM_018062.4	NP_060532.2	E3 ubiquitin-protein ligase FANCL isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24389026	GOA
enables ubiquitin protein ligase activity	IDA IDA: Inferred from direct assay	19589784	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	16916645	GOA
enables ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	16916645	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in DNA damage response	IMP IMP: Inferred from mutant phenotype	16916645	GOA
involved in DNA repair	IMP IMP: Inferred from mutant phenotype	16916645	GOA
involved in protein monoubiquitination	IDA IDA: Inferred from direct assay	16916645	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of Fanconi anaemia nuclear complex	IDA IDA: Inferred from direct assay	20347428	GOA
located in chromatin	IDA IDA: Inferred from direct assay	22343915	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FANCL Protein Structure

WD-3

FANCL_C

0
100
200
300
375 a.a.

Protein Preferred Names	Protein Names
E3 ubiquitin-protein ligase FANCL	Fanconi anemia complementation group L

FANCL Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	FANCL	Q9NW38	METTL15	Homo sapiens	A6NJ78-4	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	METTL15	Homo sapiens	A6NJ78-4	Y2H Array	32296183
Intra	FANCL	Q9NW38	DOCK8	Homo sapiens	Q8NF50-2	Y2H Array	25416956
Intra	FANCL	Q9NW38	CADPS	Homo sapiens	A2RRN7	Y2H Array	32296183
Intra	FANCL	Q9NW38	CADPS	Homo sapiens	A2RRN7	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	RIMBP3	Homo sapiens	Q9UFD9	Validated Y2H	25416956
Intra	FANCL	Q9NW38	RIMBP3	Homo sapiens	Q9UFD9	Y2H Array	25416956
Intra	FANCL	Q9NW38	ZNF774	Homo sapiens	Q6NX45	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	ZNF774	Homo sapiens	Q6NX45	Y2H Array	32296183
Intra	FANCL	Q9NW38	KRTAP11-1	Homo sapiens	Q8IUC1	Y2H Array	32296183
Intra	FANCL	Q9NW38	KRTAP11-1	Homo sapiens	Q8IUC1	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	KRTAP13-2	Homo sapiens	Q52LG2	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	KRTAP13-2	Homo sapiens	Q52LG2	Y2H Array	32296183
Intra	FANCL	Q9NW38	ACTMAP	Homo sapiens	Q5BKX5-3	Y2H Array	32296183
Intra	FANCL	Q9NW38	ACTMAP	Homo sapiens	Q5BKX5-3	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	UFSP1	Homo sapiens	Q6NVU6	Y2H Array	32296183
Intra	FANCL	Q9NW38	UFSP1	Homo sapiens	Q6NVU6	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	CYB5R2	Homo sapiens	Q6BCY4-2	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	CYB5R2	Homo sapiens	Q6BCY4-2	Y2H Array	32296183
Intra	FANCL	Q9NW38	CERCAM	Homo sapiens	Q5T4B2	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	CERCAM	Homo sapiens	Q5T4B2	Y2H Array	32296183
Intra	FANCL	Q9NW38	ZNF224	Homo sapiens	Q9NZL3	Validated Y2H	32296183
Intra	FANCL	Q9NW38	ZNF224	Homo sapiens	Q9NZL3	Y2H Array	32296183
Intra	FANCL	Q9NW38	ZNF224	Homo sapiens	Q9NZL3	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	KRTAP19-6	Homo sapiens	Q3LI70	Y2H Array	32296183
Intra	FANCL	Q9NW38	KRTAP19-6	Homo sapiens	Q3LI70	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	HOXD4	Homo sapiens	P09016	Y2H Array	32296183
Intra	FANCL	Q9NW38	HOXD4	Homo sapiens	P09016	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	KIFC3	Homo sapiens	Q9BVG8-5	Y2H Array	32296183
Intra	FANCL	Q9NW38	KIFC3	Homo sapiens	Q9BVG8-5	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	ANKRD55	Homo sapiens	Q3KP44	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	ANKRD55	Homo sapiens	Q3KP44	Y2H Array	32296183
Intra	FANCL	Q9NW38	SRGAP3	Homo sapiens	Q8IXS7	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	SRGAP3	Homo sapiens	Q8IXS7	Y2H Array	32296183
Intra	FANCL	Q9NW38	KIFC3	Homo sapiens	Q9BVG8	Y2H Array	25416956
Intra	FANCL	Q9NW38	SSX2IP	Homo sapiens	Q9Y2D8	Y2H Array	25416956
Intra	FANCL	Q9NW38	SSX2IP	Homo sapiens	Q9Y2D8	Validated Y2H	25416956
Intra	FANCL	Q9NW38	RBM45	Homo sapiens	Q8IUH3	Y2H Array	25416956
Intra	FANCL	Q9NW38	RBM45	Homo sapiens	Q8IUH3	Validated Y2H	25416956
Intra	FANCL	Q9NW38	EIF4ENIF1	Homo sapiens	Q9NRA8	Validated Y2H	25416956
Intra	FANCL	Q9NW38	EIF4ENIF1	Homo sapiens	Q9NRA8	Y2H Prey Pooling	25416956
Intra	FANCL	Q9NW38	EIF4ENIF1	Homo sapiens	Q9NRA8	Y2H Array	25416956
Intra	FANCL	Q9NW38	ARHGEF9	Homo sapiens	O43307	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	ARHGEF9	Homo sapiens	O43307	Y2H Array	32296183
Intra	FANCL	Q9NW38	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	FANCL	Q9NW38	RNF11	Homo sapiens	Q9Y3C5	Y2H Array	32296183
Intra	FANCL	Q9NW38	RNF11	Homo sapiens	Q9Y3C5	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	RNF11	Homo sapiens	Q9Y3C5	Validated Y2H	32296183
Intra	FANCL	Q9NW38	PSMB3	Homo sapiens	P49720	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	PSMB3	Homo sapiens	P49720	Y2H Array	32296183
Intra	FANCL	Q9NW38	ID2	Homo sapiens	Q02363	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	ID2	Homo sapiens	Q02363	Y2H Array	32296183
Intra	FANCL	Q9NW38	ANTKMT	Homo sapiens	Q9BQD7	Y2H Array	32296183
Intra	FANCL	Q9NW38	ANTKMT	Homo sapiens	Q9BQD7	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	TFCP2	Homo sapiens	Q12800	Validated Y2H	25416956
Intra	FANCL	Q9NW38	LZTS2	Homo sapiens	Q9BRK4	Validated Y2H	25416956
Intra	FANCL	Q9NW38	CHCHD3	Homo sapiens	Q9NX63	Y2H Array	25416956
Intra	FANCL	Q9NW38	CHCHD3	Homo sapiens	Q9NX63	Y2H Prey Pooling	25416956
Intra	FANCL	Q9NW38	CHCHD3	Homo sapiens	Q9NX63	Validated Y2H	32296183
Intra	FANCL	Q9NW38	CHCHD3	Homo sapiens	Q9NX63	Validated Y2H	25416956
Intra	FANCL	Q9NW38	CHCHD3	Homo sapiens	Q9NX63	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	CHCHD3	Homo sapiens	Q9NX63	Y2H Array	32296183
Intra	FANCL	Q9NW38	HDHD3	Homo sapiens	Q9BSH5	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	HDHD3	Homo sapiens	Q9BSH5	Y2H Array	32296183
Intra	FANCL	Q9NW38	ZNF581	Homo sapiens	Q9P0T4	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	ZNF581	Homo sapiens	Q9P0T4	Validated Y2H	32296183
Intra	FANCL	Q9NW38	ZNF581	Homo sapiens	Q9P0T4	Y2H Array	32296183
Intra	FANCL	Q9NW38	SNF8	Homo sapiens	Q96H20	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	SNF8	Homo sapiens	Q96H20	Y2H Array	32296183
Intra	FANCL	Q9NW38	GRN	Homo sapiens	P28799	Validated Y2H	25416956
Intra	FANCL	Q9NW38	GRN	Homo sapiens	P28799	Y2H Array	25416956
Intra	FANCL	Q9NW38	GRN	Homo sapiens	P28799	Y2H Prey Pooling	25416956
Intra	FANCL	Q9NW38	DDAH2	Homo sapiens	O95865	Y2H Array	32296183
Intra	FANCL	Q9NW38	DDAH2	Homo sapiens	O95865	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	CTDSP1	Homo sapiens	Q9GZU7	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	CTDSP1	Homo sapiens	Q9GZU7	Y2H Array	32296183
Intra	FANCL	Q9NW38	ZMAT5	Homo sapiens	Q9UDW3	Y2H Array	32296183
Intra	FANCL	Q9NW38	ZMAT5	Homo sapiens	Q9UDW3	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	ZMAT5	Homo sapiens	Q9UDW3	Validated Y2H	32296183
Intra	FANCL	Q9NW38	IHO1	Homo sapiens	Q8IYA8	Y2H Prey Pooling	25416956
Intra	FANCL	Q9NW38	GATA1	Homo sapiens	P15976-2	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	GATA1	Homo sapiens	P15976-2	Y2H Array	32296183
Intra	FANCL	Q9NW38	TTC23	Homo sapiens	Q5W5X9-3	Y2H Prey Pooling	32296183
Intra	FANCL	Q9NW38	TTC23	Homo sapiens	Q5W5X9-3	Validated Y2H	32296183
Intra	FANCL	Q9NW38	TTC23	Homo sapiens	Q5W5X9-3	Y2H Array	32296183
Intra	FANCL	Q9NW38	MORN3	Homo sapiens	Q6PF18	Y2H Array	32296183
Intra	FANCL	Q9NW38	MORN3	Homo sapiens	Q6PF18	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Fanconi Anemia, Complementation Group L	Fanconi Anemia Complementation Group L FANCL
Vacterl Association	Vater Association Vater Syndrome
Vacterl Association, X-Linked, With Or Without Hydrocephalus	VACTERLX X-Linked Vacterl Association Vacterl-H, X-Linked Vacterl Association, X-Linked Vacterl Association, X-Linked With Or Without Hydrocephalus Vacterl Association X-Linked With Or Without Hydrocephalus Vacterl Syndrome Vertebral Anal Tracheoesophageal Esophageal Radial Anomalies X-Linked Vacterl-H Vacterl Association Vacterl Association With Hydrocephalus
Vacterl Association With Hydrocephaly, X-Linked	X-Linked Vacterl-H Syndrome Vacterl Association With Hydrocephalus
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Fanconi Anemia, Complementation Group B	Fanconi Anemia Complementation Group B FANCB Facb Fa2 Fanconi Pancytopenia Type 2 Fanconi Pancytopenia, Type 2
Fanconi Anemia, Complementation Group V	Fanconi Anemia Complementation Group V FANCV
Bloom Syndrome	BLM Bs Bls Bloom-Torre-Machacek Syndrome Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1 Mgrisce1 Congenital Telangiectatic Erythema Congenital Telangiectatic Erythema Syndrome Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability Bloom'S Syndrome Bsyn
Fanconi Anemia, Complementation Group O	Fanconi Anemia Complementation Group O FANCO
Fanconi Anemia, Complementation Group R	Fanconi Anemia Complementation Group R FANCR
Fanconi Anemia, Complementation Group D2	Fanconi Anemia Complementation Group D2 FANCD2 Fad2 Fa4 Fancd Fanconi Pancytopenia Type 4 Fanconi Anemia, Complementation Group D Fanconi Pancytopenia, Type 4 Facd Fanconi Anemia Complementation Group D
Fanconi Anemia, Complementation Group I	Fanconi Anemia Complementation Group I FANCI
Physical Disorder	Physical Illness
Squamous Cell Carcinoma, Head And Neck	Squamous Cell Carcinoma Of The Head And Neck HNSCC Head And Neck Squamous Cell Carcinoma Squamous Cell Carcinoma Of Lip Squamous Cell Carcinoma, Head And Neck, Somatic Carcinoma Of The Head And Neck Squamous Cell Carcinomas Of Head And Neck Scchn Squamous Cell Carcinoma Of The Hypopharynx Squamous Cell Carcinoma Of The Oropharynx Squamous Cell Carcinoma Of Salivary Glands Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses Squamous Cell Carcinoma Of The Oral Cavity Squamous Cell Carcinoma Of The Lip Carcinoma, Squamous Cell Of Head And Neck Lip Squamous Cell Carcinoma Carcinoma, Squamous Cell, Head And Neck Salivary Gland Squamous Cell Carcinoma Cancer Of Head And Neck Squamous Cell Carcinoma Of Oropharynx Nos
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Orofacial Cleft	Cleft, Orofacial

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-126539	UBE2T/FANCL-IN-1		99.36%	Unkown
HY-RS04740	FANCL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	FANCL	VGNC	VGNC:72542
Mus musculus	FANCL	MGD	MGI:1914280
Canis familiaris	FANCL	VGNC	VGNC:40724
Bos taurus	FANCL	VGNC	VGNC:28860
Felis catus	FANCL	VGNC	VGNC:80093
Rattus norvegicus	FANCL	RGD	RGD:1311427
Others	FANCL	NCBI