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 References 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 References 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 References 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

WD-3: WD-repeat region (8 - 295)

FANCL_C

FANCL_C: FANCL C-terminal domain (304 - 371)

  • 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 References
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)
Cat. No. Product Name
Effect
Purity
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