Seroatlas · Human Serome Atlas

FANCL

E3 ubiquitin-protein ligase FANCL

Also known as: FAAP43, FANCL_HUMAN, FLJ10335, PHF9, Pog

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9NW38
Gene: FANCL
Ensembl: ENSG00000115392
Chromosome: 2
Canonical length: 375 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nuclear bodies,Vesicles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

375 residues, UniProt reviewed canonical sequence.

>Q9NW38|FANCL
     1  MAVTEASLLR QCPLLLPQNR SKTVYEGFIS AQGRDFHLRI VLPEDLQLKN ARLLCSWQLR
    61  TILSGYHRIV QQRMQHSPDL MSFMMELKML LEVALKNRQE LYALPPPPQF YSSLIEEIGT
   121  LGWDKLVYAD TCFSTIKLKA EDASGREHLI TLKLKAKYPA ESPDYFVDFP VPFCASWTPQ
   181  SSLISIYSQF LAAIESLKAF WDVMDEIDEK TWVLEPEKPP RSATARRIAL GNNVSINIEV
   241  DPRHPTMLPE CFFLGADHVV KPLGIKLSRN IHLWDPENSV LQNLKDVLEI DFPARAILEK
   301  SDFTMDCGIC YAYQLDGTIP DQVCDNSQCG QPFHQICLYE WLRGLLTSRQ SFNIIFGECP
   361  YCSKPITLKM SGRKH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FANCL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.3
Highest tissue expression: 41 nTPM

Expression across tissuesHPA

Tissue

pituitary gland: 41 nTPM
adrenal gland: 33 nTPM
spinal cord: 29 nTPM
hypothalamus: 28 nTPM
midbrain: 24 nTPM
basal ganglia: 23 nTPM

Single-cell type

lactotrophs: 237 nCPM
somatotrophs: 227 nCPM
thyrotrophs: 206 nCPM
oligodendrocytes: 180 nCPM
pituicytes/fscs: 141 nCPM
corticotrophs: 136 nCPM

Immune cell

memory B-cell: 5.7 nTPM
NK-cell: 4.6 nTPM
plasmacytoid DC: 3.6 nTPM
naive B-cell: 3.2 nTPM
myeloid DC: 2.6 nTPM
memory CD8 T-cell: 2.5 nTPM

Brain region

white matter: 64 nTPM
pons: 51 nTPM
basal ganglia: 44 nTPM
medulla oblongata: 41 nTPM
hypothalamus: 38 nTPM
amygdala: 37 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FANCL.

Disease | AllUniProt

Conditions FANCL is implicated in, by any mechanism.

Fanconi anemia complementation group L (FANCL) MIM:614083

Disease | GeneticClinVar

123 pathogenic / likely-pathogenic of 845 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Fanconi anemia
Fanconi anemia complementation group L
VATER association
VACTERL association, X-linked, with or without hydrocephalus
Fanconi anemia complementation group A

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.61
gnomAD pLI: 0
gnomAD missense Z: -1.31
DepMap mean gene effect: -0.24
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Zinc finger, RING/FYVE/PHD-type
Ubiquitin-conjugating enzyme/RWD-like
Fanconi anemia complex, subunit FancL, WD-repeat containing domain
E3 ubiquitin-protein ligase FANCL
FANCL C-terminal domain
FANCL, UBC-like domain 3 superfamily
FANCL, UBC-like domain 2
FANCL, UBC-like domain 3
FANCL UBC-like domain 1
FANCL C-terminal domain
FANCL UBC-like domain 2
FANCL UBC-like domain 3

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FANCL in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FANCL as an antibody target. Whether an autoantibody or antibody against FANCL could matter depends on whether native FANCL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FANCL is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label FANCL as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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