Reviewed, UniProtKB/Swiss-Prot Q8TF40 (FNIP1_HUMAN)

Names and origin

Protein names

Recommended name:
    Folliculin-interacting protein 1

Gene names

Name:	FNIP1
Synonyms:	KIAA1961

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1166 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. Ref.1
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.
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 Ref.7 Ref.8
Miscellaneous	Elevated expression levels in histologic variants of renal tumors.
Sequence similarities	Belongs to the FNIP family.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Phosphoprotein
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1166	1166	Folliculin-interacting protein 1		PRO_0000308484
Regions
	Compositional bias	96 – 99	4	Poly-Ser
Amino acid modifications
	Modified residue	593	1	Phosphoserine Ref.7 Ref.8
	Modified residue	594	1	Phosphoserine Ref.8
	Modified residue	760	1	Phosphoserine Ref.8
	Modified residue	763	1	Phosphoserine Ref.8
Natural variations
	Alternative sequence	208 – 235	28	Missing in isoform 3.		VSP_028984
	Alternative sequence	508	1	D → M in isoform 2.		VSP_028982
	Alternative sequence	509 – 1166	658	Missing in isoform 2.		VSP_028983
	Natural variant	76	1	C → G: dbSNP rs7730228.		VAR_036824
	Natural variant	354	1	S → L: dbSNP rs13177318.		VAR_036825
	Natural variant	648	1	Q → R: dbSNP rs26008. Ref.1 Ref.4 Ref.5		VAR_036826
	Natural variant	738	1	V → L: dbSNP rs12109782.		VAR_036827
	Natural variant	844	1	I → V: dbSNP rs7717874.		VAR_036828

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 23, 2007. Version 2. Checksum: 2E8DDACD93ABA81E	FASTA	1,166	130,601
	10 20 30 40 50 60 MAPTLFQKLF SKRTGLGAPG RDARDPDCGF SWPLPEFDPS QIRLIVYQDC ERRGRNVLFD 70 80 90 100 110 120 SSVKRRNEDI SVSKLCSDAQ 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
	Isoform 2. Checksum: E87F1CE7A914378C	FASTA	508	56,848
	10 20 30 40 50 60 MAPTLFQKLF SKRTGLGAPG RDARDPDCGF SWPLPEFDPS QIRLIVYQDC ERRGRNVLFD 70 80 90 100 110 120 SSVKRRNEDI SVSKLCSDAQ 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 FLEKHSSQSV DMLAKTHPYN PLWAQLGM
	Isoform 3. Checksum: 6DF41100700F9C40	FASTA	1,138	127,490
	10 20 30 40 50 60 MAPTLFQKLF SKRTGLGAPG RDARDPDCGF SWPLPEFDPS QIRLIVYQDC ERRGRNVLFD 70 80 90 100 110 120 SSVKRRNEDI SVSKLCSDAQ VKVFGKCCQL KPGGDSSSSL DSSVTSSSDI KDQCLKYQGS 130 140 150 160 170 180 RCSSDANMLG EMMFGSVAMS YKGSTLKIHQ IRSPPQLMLS KVFTARTGSS ICGSLNTLQD 190 200 210 220 230 240 SLEFINQDNN TLKADNNTVI NGLLGNIVHS NPMDMPGREL NEDRDSGIAR SASLSSLLIT 250 260 270 280 290 300 PFPSPNSSLT RSCASSYQRR WRRSQTTSLE NGVFPRWSIE ESFNLSDESC GPNPGIVRKK 310 320 330 340 350 360 KIAIGVIFSL SKDEDENNKF NEFFFSHFPL FESHMNKLKS AIEQAMKMSR RSADASQRSL 370 380 390 400 410 420 AYNRIVDALN EFRTTICNLY TMPRIGEPVW LTMMSGTPEK NHLCYRFMKE FTFLMENASK 430 440 450 460 470 480 NQFLPALITA VLTNHLAWVP TVMPNGQPPI KIFLEKHSSQ SVDMLAKTHP YNPLWAQLGD 490 500 510 520 530 540 LYGAIGSPVR LARTVVVGKR QDMVQRLLYF LTYFIRCSEL QETHLLENGE DEAIVMPGTV 550 560 570 580 590 600 ITTTLEKGEI EESEYVLVTM HRNKSSLLFK ESEEIRTPNC NCKYCSHPLL GQNVENISQQ 610 620 630 640 650 660 EREDIQNSSK ELLGISDECQ MISPSDCQEE NAVDVKQYRD KLRTCFDAKL ETVVCTGSVP 670 680 690 700 710 720 VDKCALSESG LESTEETWQS EKLLDSDSHT GKAMRSTGMV VEKKPPDKIV PASFSCEAAQ 730 740 750 760 770 780 TKVTFLIGDS MSPDSDTELR SQAVVDQITR HHTKPLKEER GAIDQHQETK QTTKDQSGES 790 800 810 820 830 840 DTQNMVSEEP CELPCWNHSD PESMSLFDEY FNDDSIETRT IDDVPFKTST DSKDHCCMLE 850 860 870 880 890 900 FSKILCTKNN KQNNEFCKCI ETVPQDSCKT CFPQQDQRDT LSILVPHGDK ESSDKKIAVG 910 920 930 940 950 960 TEWDIPRNES SDSALGDSES EDTGHDMTRQ VSSYYGGEQE DWAEEDEIPF PGSKLIEVSA 970 980 990 1000 1010 1020 VQPNIANFGR SLLGGYCSSY VPDFVLQGIG SDERFRQCLM SDLSHAVQHP VLDEPIAEAV 1030 1040 1050 1060 1070 1080 CIIADMDKWT VQVASSQRRV TDNKLGKEVL VSSLVSNLLH STLQLYKHNL SPNFCVMHLE 1090 1100 1110 1120 1130 DRLQELYFKS KMLSEYLRGQ MRVHVKELGV VLGIESSDLP LLAAVASTHS PYVAQILL

References

	« Hide 'large scale' referencesShow '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: 17028174] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INTERACTION WITH FLCN; HSPCA; PRKAA1; PRKAB1 AND PRKAG1, PHOSPHORYLATION, TISSUE SPECIFICITY, IDENTIFICATION BY MASS SPECTROMETRY, VARIANT 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. , 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: 15372022] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). 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: 11853319] [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., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [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: 18403135] [Abstract] Cited for: SUBUNIT, TISSUE SPECIFICITY.
[7]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-593, MASS SPECTROMETRY.
[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: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-593; SER-594; SER-760 AND SER-763, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	DQ145719 mRNA. Translation: AAZ65854.1. AC005593 Genomic DNA. No translation available. AC008695 Genomic DNA. No translation available. BC001956 mRNA. Translation: AAH01956.1. AB075841 mRNA. Translation: BAB85547.1. AL832008 mRNA. Translation: CAD91145.1.
IPI	IPI00386797. IPI00514209. IPI00869220.
RefSeq	NP_001008738.2. NP_588613.2.
UniGene	Hs.591273
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q8TF40.
Proteomic databases
PRIDE	Q8TF40.
Genome annotation databases
Ensembl	ENSG00000217128. Homo sapiens. [Contig view]
GeneID	96459.
KEGG	hsa:96459.
Organism-specific databases
GeneCards	GC05M131006.
HGNC	HGNC:29418. FNIP1.
MIM	610594. gene.
PharmGKB	PA142671758.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q8TF40.
Gene expression databases
ArrayExpress	Q8TF40.
Bgee	Q8TF40.
CleanEx	HS_FNIP1.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	78545.
SOURCE	Search...

Entry information

Entry name

FNIP1_HUMAN

Accession

Primary (citable) accession number: Q8TF40
Secondary accession number(s): Q86T47, Q9BUT0

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 23, 2007
Last sequence update:	October 23, 2007
Last modified:	June 16, 2009
This is version 35 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)