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Q8TF40 (FNIP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 76. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Folliculin-interacting protein 1
Gene names
Name:FNIP1
Synonyms:KIAA1961
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1166 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1. Ref.1 Ref.7

Subunit structure

Forms homomultimers and heteromultimers with FNIP2. Interacts with FLCN (via C-terminus), with HSPCA and with the PRKAA1, PRKAB1 and PRKAG1 subunits of 5'-AMP-activated protein kinase (AMPK). Phosphorylated FLCN and AMPK are preferentially bound. Ref.1 Ref.6

Subcellular location

Cytoplasm. Note: Colocalizes with FLCN in the cytoplasm. Ref.7

Tissue specificity

Strong expression is found in the heart, liver placenta, muscle, nasal mucosa, salivary gland and uvula and moderate expression in kidney and lung. Higher levels detected in clear cell renal cell carcinoma (RCC) and chromophobe RCC than in normal kidney tissue. Ref.1 Ref.6

Post-translational modification

Phosphorylated by AMPK. Ref.1

Miscellaneous

Elevated expression levels in histologic variants of renal tumors.

Sequence similarities

Belongs to the FNIP family.

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processTOR signaling

Inferred from mutant phenotype Ref.1. Source: UniProtKB

cellular response to starvation

Inferred from sequence or structural similarity. Source: UniProtKB

immature B cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of TOR signaling

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of cysteine-type endopeptidase activity involved in apoptotic process

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 21209915. Source: UniProtKB

positive regulation of B cell apoptotic process

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of peptidyl-serine phosphorylation

Inferred from direct assay PubMed 19914239. Source: UniProtKB

positive regulation of protein phosphorylation

Inferred from mutant phenotype Ref.1. Source: UniProtKB

regulation of GTPase activity

Inferred from direct assay PubMed 22977732. Source: GOC

regulation of pro-B cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of protein phosphorylation

Inferred from direct assay Ref.7. Source: UniProtKB

   Cellular_componentcytoplasm

Inferred from direct assay Ref.1Ref.7. Source: UniProtKB

   Molecular_functionguanyl-nucleotide exchange factor activity

Inferred from direct assay PubMed 22977732. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

GABARAPO951665EBI-2946919,EBI-712001
GABARAPL1Q9H0R82EBI-2946919,EBI-746969
ORFQ9Q2G43EBI-2946919,EBI-6248094From a different organism.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8TF40-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q8TF40-2)

The sequence of this isoform differs from the canonical sequence as follows:
     508-508: D → M
     509-1166: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8TF40-3)

The sequence of this isoform differs from the canonical sequence as follows:
     208-235: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11661166Folliculin-interacting protein 1
PRO_0000308484

Regions

Compositional bias96 – 994Poly-Ser

Amino acid modifications

Modified residue5931Phosphoserine Ref.8
Modified residue5941Phosphoserine Ref.8
Modified residue7601Phosphoserine Ref.8 Ref.9 Ref.10
Modified residue7631Phosphoserine Ref.8 Ref.9 Ref.10

Natural variations

Alternative sequence208 – 23528Missing in isoform 3.
VSP_028984
Alternative sequence5081D → M in isoform 2.
VSP_028982
Alternative sequence509 – 1166658Missing in isoform 2.
VSP_028983
Natural variant761G → C. Ref.1 Ref.3
Corresponds to variant rs7730228 [ dbSNP | Ensembl ].
VAR_036824
Natural variant3541S → L.
Corresponds to variant rs13177318 [ dbSNP | Ensembl ].
VAR_036825
Natural variant6481Q → R. Ref.1 Ref.4 Ref.5
Corresponds to variant rs26008 [ dbSNP | Ensembl ].
VAR_036826
Natural variant7381V → L.
Corresponds to variant rs12109782 [ dbSNP | Ensembl ].
VAR_036827
Natural variant8441I → V.
Corresponds to variant rs7717874 [ dbSNP | Ensembl ].
VAR_036828

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 30, 2010. Version 3.
Checksum: 3B99DBA98E7169C5

FASTA1,166130,555
        10         20         30         40         50         60 
MAPTLFQKLF SKRTGLGAPG RDARDPDCGF SWPLPEFDPS QIRLIVYQDC ERRGRNVLFD 

        70         80         90        100        110        120 
SSVKRRNEDI SVSKLGSDAQ VKVFGKCCQL KPGGDSSSSL DSSVTSSSDI KDQCLKYQGS 

       130        140        150        160        170        180 
RCSSDANMLG EMMFGSVAMS YKGSTLKIHQ IRSPPQLMLS KVFTARTGSS ICGSLNTLQD 

       190        200        210        220        230        240 
SLEFINQDNN TLKADNNTVI NGLLGNIGLS QFCSPRRAFS EQGPLRLIRS ASFFAVHSNP 

       250        260        270        280        290        300 
MDMPGRELNE DRDSGIARSA SLSSLLITPF PSPNSSLTRS CASSYQRRWR RSQTTSLENG 

       310        320        330        340        350        360 
VFPRWSIEES FNLSDESCGP NPGIVRKKKI AIGVIFSLSK DEDENNKFNE FFFSHFPLFE 

       370        380        390        400        410        420 
SHMNKLKSAI EQAMKMSRRS ADASQRSLAY NRIVDALNEF RTTICNLYTM PRIGEPVWLT 

       430        440        450        460        470        480 
MMSGTPEKNH LCYRFMKEFT FLMENASKNQ FLPALITAVL TNHLAWVPTV MPNGQPPIKI 

       490        500        510        520        530        540 
FLEKHSSQSV DMLAKTHPYN PLWAQLGDLY GAIGSPVRLA RTVVVGKRQD MVQRLLYFLT 

       550        560        570        580        590        600 
YFIRCSELQE THLLENGEDE AIVMPGTVIT TTLEKGEIEE SEYVLVTMHR NKSSLLFKES 

       610        620        630        640        650        660 
EEIRTPNCNC KYCSHPLLGQ NVENISQQER EDIQNSSKEL LGISDECQMI SPSDCQEENA 

       670        680        690        700        710        720 
VDVKQYRDKL RTCFDAKLET VVCTGSVPVD KCALSESGLE STEETWQSEK LLDSDSHTGK 

       730        740        750        760        770        780 
AMRSTGMVVE KKPPDKIVPA SFSCEAAQTK VTFLIGDSMS PDSDTELRSQ AVVDQITRHH 

       790        800        810        820        830        840 
TKPLKEERGA IDQHQETKQT TKDQSGESDT QNMVSEEPCE LPCWNHSDPE SMSLFDEYFN 

       850        860        870        880        890        900 
DDSIETRTID DVPFKTSTDS KDHCCMLEFS KILCTKNNKQ NNEFCKCIET VPQDSCKTCF 

       910        920        930        940        950        960 
PQQDQRDTLS ILVPHGDKES SDKKIAVGTE WDIPRNESSD SALGDSESED TGHDMTRQVS 

       970        980        990       1000       1010       1020 
SYYGGEQEDW AEEDEIPFPG SKLIEVSAVQ PNIANFGRSL LGGYCSSYVP DFVLQGIGSD 

      1030       1040       1050       1060       1070       1080 
ERFRQCLMSD LSHAVQHPVL DEPIAEAVCI IADMDKWTVQ VASSQRRVTD NKLGKEVLVS 

      1090       1100       1110       1120       1130       1140 
SLVSNLLHST LQLYKHNLSP NFCVMHLEDR LQELYFKSKM LSEYLRGQMR VHVKELGVVL 

      1150       1160 
GIESSDLPLL AAVASTHSPY VAQILL 

« Hide

Isoform 2 [UniParc].

Checksum: 59A0719AD6A85CF9
Show »

FASTA50856,802
Isoform 3 [UniParc].

Checksum: 3CA14555745B9C37
Show »

FASTA1,138127,444

References

« Hide 'large scale' references
[1]"Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling."
Baba M., Hong S.-B., Sharma N., Warren M.B., Nickerson M.L., Iwamatsu A., Esposito D., Gillette W.K., Hopkins R.F. III, Hartley J.L., Furihata M., Oishi S., Zhen W., Burke T.R. Jr., Linehan W.M., Schmidt L.S., Zbar B.
Proc. Natl. Acad. Sci. U.S.A. 103:15552-15557(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INTERACTION WITH FLCN; HSPCA; PRKAA1; PRKAB1 AND PRKAG1, PHOSPHORYLATION, TISSUE SPECIFICITY, IDENTIFICATION BY MASS SPECTROMETRY, VARIANTS CYS-76 AND ARG-648.
[2]"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. expand/collapse author list , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT CYS-76.
Tissue: Lung.
[4]"Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins."
Nagase T., Kikuno R., Ohara O.
DNA Res. 8:319-327(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 196-1166 (ISOFORM 3), VARIANT ARG-648.
Tissue: Brain.
[5]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 617-1166, VARIANT ARG-648.
Tissue: Skeletal muscle.
[6]"Identification and characterization of a novel folliculin-interacting protein FNIP2."
Hasumi H., Baba M., Hong S.-B., Hasumi Y., Huang Y., Yao M., Valera V.A., Linehan W.M., Schmidt L.S.
Gene 415:60-67(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBUNIT, TISSUE SPECIFICITY.
[7]"Interaction of folliculin (Birt-Hogg-Dube gene product) with a novel Fnip1-like (FnipL/Fnip2) protein."
Takagi Y., Kobayashi T., Shiono M., Wang L., Piao X., Sun G., Zhang D., Abe M., Hagiwara Y., Takahashi K., Hino O.
Oncogene 27:5339-5347(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[8]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-593; SER-594; SER-760 AND SER-763, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-760 AND SER-763, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[10]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-760 AND SER-763, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
DQ145719 mRNA. Translation: AAZ65854.1.
AC004227 Genomic DNA. No translation available.
AC004622 Genomic DNA. No translation available.
AC005593 Genomic DNA. No translation available.
AC008695 Genomic DNA. No translation available.
AC008497 Genomic DNA. No translation available.
AC026754 Genomic DNA. No translation available.
BC001956 mRNA. Translation: AAH01956.1.
AB075841 mRNA. Translation: BAB85547.1.
AL832008 mRNA. Translation: CAD91145.1.
RefSeqNP_001008738.2. NM_001008738.2.
NP_588613.2. NM_133372.2.
UniGeneHs.591273.

3D structure databases

ProteinModelPortalQ8TF40.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125175. 8 interactions.
IntActQ8TF40. 8 interactions.
MINTMINT-7298196.
STRING9606.ENSP00000310453.

PTM databases

PhosphoSiteQ8TF40.

Polymorphism databases

DMDM313104236.

Proteomic databases

PaxDbQ8TF40.
PRIDEQ8TF40.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000307968; ENSP00000309266; ENSG00000217128. [Q8TF40-3]
ENST00000510461; ENSP00000421985; ENSG00000217128. [Q8TF40-1]
ENST00000511848; ENSP00000425619; ENSG00000217128. [Q8TF40-2]
GeneID96459.
KEGGhsa:96459.
UCSCuc003kvs.1. human. [Q8TF40-1]
uc003kvt.1. human. [Q8TF40-3]
uc003kvu.3. human. [Q8TF40-2]

Organism-specific databases

CTD96459.
GeneCardsGC05M130761.
HGNCHGNC:29418. FNIP1.
MIM610594. gene.
neXtProtNX_Q8TF40.
PharmGKBPA142671758.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG330489.
HOGENOMHOG000112624.
HOVERGENHBG059425.
InParanoidQ8TF40.
PhylomeDBQ8TF40.
TreeFamTF324090.

Gene expression databases

ArrayExpressQ8TF40.
BgeeQ8TF40.
CleanExHS_FNIP1.
GenevestigatorQ8TF40.

Family and domain databases

InterProIPR028086. FNIP_C_dom.
IPR026156. FNIP_fam.
IPR028085. FNIP_mid_dom.
IPR028084. FNIP_N_dom.
[Graphical view]
PANTHERPTHR21634. PTHR21634. 1 hit.
PfamPF14638. FNIP_C. 1 hit.
PF14637. FNIP_M. 1 hit.
PF14636. FNIP_N. 1 hit.
[Graphical view]
PRINTSPR02073. FOLLICULNIP1.
ProtoNetSearch...

Other

NextBio78545.
PROQ8TF40.
SOURCESearch...

Entry information

Entry nameFNIP1_HUMAN
AccessionPrimary (citable) accession number: Q8TF40
Secondary accession number(s): D6RJH5, Q86T47, Q9BUT0
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: November 30, 2010
Last modified: April 16, 2014
This is version 76 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM