Seroatlas · Human Serome Atlas

FANCI

Fanconi anemia group I protein

Also known as: FANCI_HUMAN, FLJ10719, KIAA1794

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

Protein identityUniProt · HPA

UniProt accession: Q9NVI1
Gene: FANCI
Ensembl: ENSG00000140525
Chromosome: 15
Canonical length: 1328 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm
Quaternary structure: Homodimer

OverviewNCBI Gene

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 I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1328 residues, UniProt reviewed canonical sequence.

>Q9NVI1|FANCI
     1  MDQKILSLAA EKTADKLQEF LQTLREGDLT NLLQNQAVKG KVAGALLRAI FKGSPCSEEA
    61  GTLRRRKIYT CCIQLVESGD LQKEIASEII GLLMLEAHHF PGPLLVELAN EFISAVREGS
   121  LVNGKSLELL PIILTALATK KENLAYGKGV LSGEECKKQL INTLCSGRWD QQYVIQLTSM
   181  FKDVPLTAEE VEFVVEKALS MFSKMNLQEI PPLVYQLLVL SSKGSRKSVL EGIIAFFSAL
   241  DKQHNEEQSG DELLDVVTVP SGELRHVEGT IILHIVFAIK LDYELGRELV KHLKVGQQGD
   301  SNNNLSPFSI ALLLSVTRIQ RFQDQVLDLL KTSVVKSFKD LQLLQGSKFL QNLVPHRSYV
   361  STMILEVVKN SVHSWDHVTQ GLVELGFILM DSYGPKKVLD GKTIETSPSL SRMPNQHACK
   421  LGANILLETF KIHEMIRQEI LEQVLNRVVT RASSPISHFL DLLSNIVMYA PLVLQSCSSK
   481  VTEAFDYLSF LPLQTVQRLL KAVQPLLKVS MSMRDCLILV LRKAMFANQL DARKSAVAGF
   541  LLLLKNFKVL GSLSSSQCSQ SLSVSQVHVD VHSHYNSVAN ETFCLEIMDS LRRCLSQQAD
   601  VRLMLYEGFY DVLRRNSQLA NSVMQTLLSQ LKQFYEPKPD LLPPLKLEAC ILTQGDKISL
   661  QEPLDYLLCC IQHCLAWYKN TVIPLQQGEE EEEEEEAFYE DLDDILESIT NRMIKSELED
   721  FELDKSADFS QSTSIGIKNN ICAFLVMGVC EVLIEYNFSI SSFSKNRFED ILSLFMCYKK
   781  LSDILNEKAG KAKTKMANKT SDSLLSMKFV SSLLTALFRD SIQSHQESLS VLRSSNEFMR
   841  YAVNVALQKV QQLKETGHVS GPDGQNPEKI FQNLCDITRV LLWRYTSIPT SVEESGKKEK
   901  GKSISLLCLE GLQKIFSAVQ QFYQPKIQQF LRALDVTDKE GEEREDADVS VTQRTAFQIR
   961  QFQRSLLNLL SSQEEDFNSK EALLLVTVLT SLSKLLEPSS PQFVQMLSWT SKICKENSRE
  1021  DALFCKSLMN LLFSLHVSYK SPVILLRDLS QDIHGHLGDI DQDVEVEKTN HFAIVNLRTA
  1081  APTVCLLVLS QAEKVLEEVD WLITKLKGQV SQETLSEEAS SQATLPNQPV EKAIIMQLGT
  1141  LLTFFHELVQ TALPSGSCVD TLLKDLCKMY TTLTALVRYY LQVCQSSGGI PKNMEKLVKL
  1201  SGSHLTPLCY SFISYVQNKS KSLNYTGEKK EKPAAVATAM ARVLRETKPI PNLIFAIEQY
  1261  EKFLIHLSKK SKVNLMQHMK LSTSRDFKIK GNILDMVLRE DGEDENEEGT ASEHGGQNKE
  1321  PAKKKRKK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FANCI 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): 0.27
Highest tissue expression: 41 nTPM

Expression across tissuesHPA

Tissue

thymus: 41 nTPM
testis: 30 nTPM
bone marrow: 28 nTPM
tonsil: 24 nTPM
lymph node: 22 nTPM
appendix: 12 nTPM

Single-cell type

erythrocyte progenitors: 194 nCPM
early primary spermatocytes: 179 nCPM
megakaryocyte progenitors: 137 nCPM
monocyte progenitors: 137 nCPM
neutrophil progenitors: 109 nCPM
differentiating spermatogonia: 103 nCPM

Immune cell

basophil: 22 nTPM
T-reg: 12 nTPM
memory CD8 T-cell: 6.2 nTPM
naive CD8 T-cell: 5.4 nTPM
NK-cell: 4.9 nTPM
memory CD4 T-cell: 4.6 nTPM

Brain region

cerebellum: 12 nTPM
cerebral cortex: 8.9 nTPM
pons: 8.7 nTPM
amygdala: 7.9 nTPM
hippocampal formation: 7.7 nTPM
white matter: 7.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FANCI.

Disease | AllUniProt

Conditions FANCI is implicated in, by any mechanism.

Fanconi anemia complementation group I (FANCI) MIM:609053

Disease | GeneticClinVar

285 pathogenic / likely-pathogenic of 2,437 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Fanconi anemia
Fanconi anemia complementation group I
FANCI-related disorder
Fanconi anemia complementation group A
Gastric cancer

Disease | ImmuneIEDB

Conditions an epitope on FANCI was assayed in.

colon adenocarcinoma T cell

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): 1.02
gnomAD pLI: 0
gnomAD missense Z: -1.35
DepMap mean gene effect: -0.27
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% 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

Fanconi anemia group I protein
FANCI solenoid 1 cap
FANCI solenoid 1 domain
FANCI helical domain 1
FANCI helical domain 2
FANCI solenoid 3 domain
FANCI solenoid 4 domain
FANCI solenoid 2 domain
FANCI solenoid 1 cap
FANCI solenoid 1
FANCI solenoid 2
FANCI solenoid 3
FANCI solenoid 4
FANCI helical domain 1
FANCI helical domain 2

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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