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FANCL

GENERAL INFORMATION

Gene name

 FANCL

Gene description

 Fanconi anemia, complementation group L

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 9
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 3 antibodies.
HPA036685 , HPA036686 , CAB033842
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 FANCL (HGNC Symbol)

Synonyms

 FAAP43, FLJ10335, PHF9, Pog

Description

 Fanconi anemia, complementation group L (HGNC Symbol)

Entrez gene summary

 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Chromosome

 2

Cytoband

 p16.1

Chromosome location (bp)

 58159243 - 58241372

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000115392 (version 83.38)

Entrez gene

 55120

UniProt

 Q9NW38 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9NW38

Antibodypedia

 FANCL antibodies

PROTEIN BROWSER
FANCL-001
FANCL-002
FANCL-003
FANCL-004
FANCL-005
FANCL-006
FANCL-007
FANCL-008
FANCL-009

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
FANCL-001
ENSP00000233741
ENST00000233741
Q9NW38 [Direct mapping]
E3 ubiquitin-protein ligase FANCL
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Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002230 [positive regulation of defense response to virus by host]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006513 [protein monoubiquitination]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008270 [zinc ion binding]
GO:0016874 [ligase activity]
GO:0031625 [ubiquitin protein ligase binding]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
GO:0061630 [ubiquitin protein ligase activity]
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 375 aa
42.9 kDa 		No 0
FANCL-002
ENSP00000385021
ENST00000402135
Q9NW38 [Direct mapping]
E3 ubiquitin-protein ligase FANCL
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002230 [positive regulation of defense response to virus by host]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
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:0008270 [zinc ion binding]
GO:0016874 [ligase activity]
GO:0031625 [ubiquitin protein ligase binding]
GO:0036297 [interstrand cross-link repair]
GO:0042127 [regulation of cell proliferation]
GO:0043240 [Fanconi anaemia nuclear complex]
GO:0061630 [ubiquitin protein ligase activity]
Show all
 380 aa
43.4 kDa 		No 0
FANCL-003
ENSP00000401280
ENST00000449070
C9JZA9 [Direct mapping]
E3 ubiquitin-protein ligase FANCL
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0006281 [DNA repair]
GO:0016567 [protein ubiquitination]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
 301 aa
34.1 kDa 		No 0
FANCL-004
ENSP00000386097
ENST00000403295
B5MC31 [Direct mapping]
E3 ubiquitin-protein ligase FANCL
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0006281 [DNA repair]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
 347 aa
39.8 kDa 		No 0
FANCL-005
ENSP00000389448
ENST00000417361
C9JPN7 [Direct mapping]
E3 ubiquitin-protein ligase FANCL
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 145 aa
16.4 kDa 		No 0
FANCL-006
ENSP00000384046
ENST00000403676
B5MCZ6 [Direct mapping]
E3 ubiquitin-protein ligase FANCL
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity]
GO:0006281 [DNA repair]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
 258 aa
29.4 kDa 		No 0
FANCL-007
ENSP00000390991
ENST00000446381
C9J512 [Direct mapping]
E3 ubiquitin-protein ligase FANCL
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 158 aa
17.9 kDa 		No 0
FANCL-008
ENSP00000483263
ENST00000481670
A0A087X0C0 [Direct mapping]
E3 ubiquitin-protein ligase FANCL
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 124 aa
14.4 kDa 		No 0
FANCL-009
ENSP00000400969
ENST00000427708
H7C1M0 [Direct mapping]
E3 ubiquitin-protein ligase FANCL
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 288 aa
32.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.