Seroatlas · Human Serome Atlas

FNIP1

Folliculin-interacting protein 1

Also known as: FNIP1_HUMAN, KIAA1961

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

Protein identityUniProt · HPA

UniProt accession: Q8TF40
Gene: FNIP1
Ensembl: ENSG00000217128
Chromosome: 5
Canonical length: 1166 aa
Protein class: Disease related genes, Predicted intracellular proteins
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a protein that binds to the tumor suppressor protein folliculin and to AMP-activated protein kinase (AMPK). The encoded protein participates in the regulation of cellular metabolism and nutrient sensing by modulating the AMPK and target of rapamycin signaling pathways. This gene has a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017]

Canonical amino-acid sequenceUniProt

1166 residues, UniProt reviewed canonical sequence.

>Q8TF40|FNIP1
     1  MAPTLFQKLF SKRTGLGAPG RDARDPDCGF SWPLPEFDPS QIRLIVYQDC ERRGRNVLFD
    61  SSVKRRNEDI SVSKLGSDAQ VKVFGKCCQL KPGGDSSSSL DSSVTSSSDI KDQCLKYQGS
   121  RCSSDANMLG EMMFGSVAMS YKGSTLKIHQ IRSPPQLMLS KVFTARTGSS ICGSLNTLQD
   181  SLEFINQDNN TLKADNNTVI NGLLGNIGLS QFCSPRRAFS EQGPLRLIRS ASFFAVHSNP
   241  MDMPGRELNE DRDSGIARSA SLSSLLITPF PSPNSSLTRS CASSYQRRWR RSQTTSLENG
   301  VFPRWSIEES FNLSDESCGP NPGIVRKKKI AIGVIFSLSK DEDENNKFNE FFFSHFPLFE
   361  SHMNKLKSAI EQAMKMSRRS ADASQRSLAY NRIVDALNEF RTTICNLYTM PRIGEPVWLT
   421  MMSGTPEKNH LCYRFMKEFT FLMENASKNQ FLPALITAVL TNHLAWVPTV MPNGQPPIKI
   481  FLEKHSSQSV DMLAKTHPYN PLWAQLGDLY GAIGSPVRLA RTVVVGKRQD MVQRLLYFLT
   541  YFIRCSELQE THLLENGEDE AIVMPGTVIT TTLEKGEIEE SEYVLVTMHR NKSSLLFKES
   601  EEIRTPNCNC KYCSHPLLGQ NVENISQQER EDIQNSSKEL LGISDECQMI SPSDCQEENA
   661  VDVKQYRDKL RTCFDAKLET VVCTGSVPVD KCALSESGLE STEETWQSEK LLDSDSHTGK
   721  AMRSTGMVVE KKPPDKIVPA SFSCEAAQTK VTFLIGDSMS PDSDTELRSQ AVVDQITRHH
   781  TKPLKEERGA IDQHQETKQT TKDQSGESDT QNMVSEEPCE LPCWNHSDPE SMSLFDEYFN
   841  DDSIETRTID DVPFKTSTDS KDHCCMLEFS KILCTKNNKQ NNEFCKCIET VPQDSCKTCF
   901  PQQDQRDTLS ILVPHGDKES SDKKIAVGTE WDIPRNESSD SALGDSESED TGHDMTRQVS
   961  SYYGGEQEDW AEEDEIPFPG SKLIEVSAVQ PNIANFGRSL LGGYCSSYVP DFVLQGIGSD
  1021  ERFRQCLMSD LSHAVQHPVL DEPIAEAVCI IADMDKWTVQ VASSQRRVTD NKLGKEVLVS
  1081  SLVSNLLHST LQLYKHNLSP NFCVMHLEDR LQELYFKSKM LSEYLRGQMR VHVKELGVVL
  1141  GIESSDLPLL AAVASTHSPY VAQILL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FNIP1 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: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.49
Highest tissue expression: 15 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 15 nTPM
tongue: 13 nTPM
testis: 13 nTPM
skeletal muscle: 12 nTPM
parathyroid gland: 12 nTPM
liver: 11 nTPM

Single-cell type

oligodendrocytes: 474 nCPM
choroid plexus epithelial cells: 297 nCPM
microglia: 234 nCPM
bergmann glia: 220 nCPM
ependymal cells: 219 nCPM
astrocytes: 187 nCPM

Immune cell

neutrophil: 17 nTPM
basophil: 7.2 nTPM
eosinophil: 3.9 nTPM
intermediate monocyte: 3.4 nTPM
memory B-cell: 3.4 nTPM
non-classical monocyte: 3.1 nTPM

Brain region

white matter: 80 nTPM
basal ganglia: 54 nTPM
cerebral cortex: 49 nTPM
medulla oblongata: 46 nTPM
midbrain: 43 nTPM
thalamus: 43 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FNIP1.

Disease | AllUniProt

Conditions FNIP1 is implicated in, by any mechanism.

Immunodeficiency 93 and hypertrophic cardiomyopathy (IMD93) MIM:619705

Disease | GeneticClinVar

24 pathogenic / likely-pathogenic of 490 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Immunodeficiency 93 and hypertrophic cardiomyopathy

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): 0.25
gnomAD pLI: 1
gnomAD missense Z: 2.35
DepMap mean gene effect: -0.01
DepMap dependency class: selective

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FNIP1 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 FNIP1 as an antibody target. Whether an autoantibody or antibody against FNIP1 could matter depends on whether native FNIP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FNIP1 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 FNIP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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