Seroatlas · Human Serome Atlas

FAN1

Fanconi-associated nuclease 1

Also known as: FAN1_HUMAN, KIAA1018, MTMR15

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

Protein identityUniProt · HPA

UniProt accession: Q9Y2M0
Gene: FAN1
Ensembl: ENSG00000198690
Chromosome: 15
Canonical length: 1017 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm,Cytokinetic bridge,Primary cilium,Cytosol

OverviewNCBI Gene

This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5' flap endonuclease and 5'-3' exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2016]

Canonical amino-acid sequenceUniProt

1017 residues, UniProt reviewed canonical sequence.

>Q9Y2M0|FAN1
     1  MMSEGKPPDK KRPRRSLSIS KNKKKASNSI ISCFNNAPPA KLACPVCSKM VPRYDLNRHL
    61  DEMCANNDFV QVDPGQVGLI NSNVSMVDLT SVTLEDVTPK KSPPPKTNLT PGQSDSAKRE
   121  VKQKISPYFK SNDVVCKNQD ELRNRSVKVI CLGSLASKLS RKYVKAKKSI DKDEEFAGSS
   181  PQSSKSTVVK SLIDNSSEIE DEDQILENSS QKENVFKCDS LKEECIPEHM VRGSKIMEAE
   241  SQKATRECEK SALTPGFSDN AIMLFSPDFT LRNTLKSTSE DSLVKQECIK EVVEKREACH
   301  CEEVKMTVAS EAKIQLSDSE AKSHSSADDA SAWSNIQEAP LQDDSCLNND IPHSIPLEQG
   361  SSCNGPGQTT GHPYYLRSFL VVLKTVLENE DDMLLFDEQE KGIVTKFYQL SATGQKLYVR
   421  LFQRKLSWIK MTKLEYEEIA LDLTPVIEEL TNAGFLQTES ELQELSEVLE LLSAPELKSL
   481  AKTFHLVNPN GQKQQLVDAF LKLAKQRSVC TWGKNKPGIG AVILKRAKAL AGQSVRICKG
   541  PRAVFSRILL LFSLTDSMED EDAACGGQGQ LSTVLLVNLG RMEFPSYTIN RKTHIFQDRD
   601  DLIRYAAATH MLSDISSAMA NGNWEEAKEL AQCAKRDWNR LKNHPSLRCH EDLPLFLRCF
   661  TVGWIYTRIL SRFVEILQRL HMYEEAVREL ESLLSQRIYC PDSRGRWWDR LALNLHQHLK
   721  RLEPTIKCIT EGLADPEVRT GHRLSLYQRA VRLRESPSCK KFKHLFQQLP EMAVQDVKHV
   781  TITGRLCPQR GMCKSVFVME AGEAADPTTV LCSVEELALA HYRRSGFDQG IHGEGSTFST
   841  LYGLLLWDII FMDGIPDVFR NACQAFPLDL CTDSFFTSRR PALEARLQLI HDAPEESLRA
   901  WVAATWHEQE GRVASLVSWD RFTSLQQAQD LVSCLGGPVL SGVCRHLAAD FRHCRGGLPD
   961  LVVWNSQSRH FKLVEVKGPN DRLSHKQMIW LAELQKLGAE VEVCHVVAVG AKSQSLS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FAN1 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): 0.41
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 13 nTPM
cerebellum: 12 nTPM
prostate: 9.1 nTPM
cerebral cortex: 8.9 nTPM
pituitary gland: 8.7 nTPM
midbrain: 8.6 nTPM

Single-cell type

oligodendrocytes: 64 nCPM
choroid plexus epithelial cells: 53 nCPM
distal convoluted tubule cells: 52 nCPM
renal connecting tubule cells: 46 nCPM
loop of henle epithelial cells: 44 nCPM
other brain neurons: 43 nCPM

Immune cell

non-classical monocyte: 4.4 nTPM
MAIT T-cell: 2 nTPM
naive CD4 T-cell: 1.8 nTPM
NK-cell: 1.8 nTPM
naive B-cell: 1.5 nTPM
T-reg: 1.5 nTPM

Brain region

pons: 6.2 nTPM
thalamus: 6 nTPM
midbrain: 5.8 nTPM
white matter: 5.8 nTPM
hypothalamus: 5.4 nTPM
medulla oblongata: 5.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FAN1.

Disease | AllUniProt

Conditions FAN1 is implicated in, by any mechanism.

Interstitial nephritis, karyomegalic (KMIN) MIM:614817

Disease | GeneticClinVar

62 pathogenic / likely-pathogenic of 578 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Karyomegalic interstitial nephritis
FAN1-related disorder
Inborn genetic diseases
Kidney failure

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): 1.12
gnomAD pLI: 0
gnomAD missense Z: -0.05
DepMap mean gene effect: 0.02
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

5'-3' exonuclease activity
5'-flap endonuclease activity
magnesium ion binding
phosphodiesterase I activity
ubiquitin-modified protein reader activity
zinc ion binding
flap-structured DNA binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

Rad18, zinc finger UBZ4-type
tRNA endonuclease-like domain superfamily
VRR-NUC domain
Fanconi-associated nuclease 1-like
Fanconi-associated nuclease 1-like, winged-helix domain
Fanconi-associated nuclease 1-like, TPR domain
Fanconi-associated nuclease 1-like, eukaryotes
Fanconi-associated nuclease 1, SAP subdomain, metazoa
VRR-NUC domain
Fanconi-associated nuclease 1, SAP subdomain
Fanconi-associated nuclease 1, TPR domain
FAN1, HTH domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FAN1 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 FAN1 as an antibody target. Whether an autoantibody or antibody against FAN1 could matter depends on whether native FAN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FAN1 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 FAN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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