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Q8TF40

- FNIP1_HUMAN

UniProt

Q8TF40 - FNIP1_HUMAN

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Protein

Folliculin-interacting protein 1

Gene

FNIP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1.2 Publications

GO - Molecular functioni

  1. guanyl-nucleotide exchange factor activity Source: UniProtKB

GO - Biological processi

  1. cellular response to starvation Source: UniProtKB
  2. immature B cell differentiation Source: UniProtKB
  3. negative regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
  4. negative regulation of TOR signaling Source: UniProtKB
  5. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  6. positive regulation of B cell apoptotic process Source: UniProtKB
  7. positive regulation of GTPase activity Source: GOC
  8. positive regulation of peptidyl-serine phosphorylation Source: UniProtKB
  9. positive regulation of protein phosphorylation Source: UniProtKB
  10. regulation of pro-B cell differentiation Source: UniProtKB
  11. regulation of protein phosphorylation Source: UniProtKB
  12. TOR signaling Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Folliculin-interacting protein 1
Gene namesi
Name:FNIP1
Synonyms:KIAA1961
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:29418. FNIP1.

Subcellular locationi

Cytoplasm 1 Publication
Note: Colocalizes with FLCN in the cytoplasm.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671758.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11661166Folliculin-interacting protein 1PRO_0000308484Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei593 – 5931Phosphoserine1 Publication
Modified residuei594 – 5941Phosphoserine1 Publication
Modified residuei760 – 7601Phosphoserine3 Publications
Modified residuei763 – 7631Phosphoserine3 Publications

Post-translational modificationi

Phosphorylated by AMPK.4 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8TF40.
PaxDbiQ8TF40.
PRIDEiQ8TF40.

PTM databases

PhosphoSiteiQ8TF40.

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiQ8TF40.
CleanExiHS_FNIP1.
ExpressionAtlasiQ8TF40. baseline and differential.
GenevestigatoriQ8TF40.

Interactioni

Subunit structurei

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.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
GABARAPO951665EBI-2946919,EBI-712001
GABARAPL1Q9H0R82EBI-2946919,EBI-746969
ORFQ9Q2G43EBI-2946919,EBI-6248094From a different organism.

Protein-protein interaction databases

BioGridi125175. 9 interactions.
IntActiQ8TF40. 8 interactions.
MINTiMINT-7298196.
STRINGi9606.ENSP00000310453.

Structurei

3D structure databases

ProteinModelPortaliQ8TF40.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi96 – 994Poly-Ser

Sequence similaritiesi

Belongs to the FNIP family.Curated

Phylogenomic databases

eggNOGiNOG330489.
GeneTreeiENSGT00390000009391.
HOGENOMiHOG000112624.
HOVERGENiHBG059425.
InParanoidiQ8TF40.
PhylomeDBiQ8TF40.
TreeFamiTF324090.

Family and domain databases

InterProiIPR028086. FNIP_C_dom.
IPR026156. FNIP_fam.
IPR028085. FNIP_mid_dom.
IPR028084. FNIP_N_dom.
[Graphical view]
PANTHERiPTHR21634. PTHR21634. 1 hit.
PfamiPF14638. FNIP_C. 1 hit.
PF14637. FNIP_M. 1 hit.
PF14636. FNIP_N. 1 hit.
[Graphical view]
PRINTSiPR02073. FOLLICULNIP1.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8TF40-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MAPTLFQKLF SKRTGLGAPG RDARDPDCGF SWPLPEFDPS QIRLIVYQDC
60 70 80 90 100
ERRGRNVLFD SSVKRRNEDI SVSKLGSDAQ VKVFGKCCQL KPGGDSSSSL
110 120 130 140 150
DSSVTSSSDI KDQCLKYQGS RCSSDANMLG EMMFGSVAMS YKGSTLKIHQ
160 170 180 190 200
IRSPPQLMLS KVFTARTGSS ICGSLNTLQD SLEFINQDNN TLKADNNTVI
210 220 230 240 250
NGLLGNIGLS QFCSPRRAFS EQGPLRLIRS ASFFAVHSNP MDMPGRELNE
260 270 280 290 300
DRDSGIARSA SLSSLLITPF PSPNSSLTRS CASSYQRRWR RSQTTSLENG
310 320 330 340 350
VFPRWSIEES FNLSDESCGP NPGIVRKKKI AIGVIFSLSK DEDENNKFNE
360 370 380 390 400
FFFSHFPLFE SHMNKLKSAI EQAMKMSRRS ADASQRSLAY NRIVDALNEF
410 420 430 440 450
RTTICNLYTM PRIGEPVWLT MMSGTPEKNH LCYRFMKEFT FLMENASKNQ
460 470 480 490 500
FLPALITAVL TNHLAWVPTV MPNGQPPIKI FLEKHSSQSV DMLAKTHPYN
510 520 530 540 550
PLWAQLGDLY GAIGSPVRLA RTVVVGKRQD MVQRLLYFLT YFIRCSELQE
560 570 580 590 600
THLLENGEDE AIVMPGTVIT TTLEKGEIEE SEYVLVTMHR NKSSLLFKES
610 620 630 640 650
EEIRTPNCNC KYCSHPLLGQ NVENISQQER EDIQNSSKEL LGISDECQMI
660 670 680 690 700
SPSDCQEENA VDVKQYRDKL RTCFDAKLET VVCTGSVPVD KCALSESGLE
710 720 730 740 750
STEETWQSEK LLDSDSHTGK AMRSTGMVVE KKPPDKIVPA SFSCEAAQTK
760 770 780 790 800
VTFLIGDSMS PDSDTELRSQ AVVDQITRHH TKPLKEERGA IDQHQETKQT
810 820 830 840 850
TKDQSGESDT QNMVSEEPCE LPCWNHSDPE SMSLFDEYFN DDSIETRTID
860 870 880 890 900
DVPFKTSTDS KDHCCMLEFS KILCTKNNKQ NNEFCKCIET VPQDSCKTCF
910 920 930 940 950
PQQDQRDTLS ILVPHGDKES SDKKIAVGTE WDIPRNESSD SALGDSESED
960 970 980 990 1000
TGHDMTRQVS SYYGGEQEDW AEEDEIPFPG SKLIEVSAVQ PNIANFGRSL
1010 1020 1030 1040 1050
LGGYCSSYVP DFVLQGIGSD ERFRQCLMSD LSHAVQHPVL DEPIAEAVCI
1060 1070 1080 1090 1100
IADMDKWTVQ VASSQRRVTD NKLGKEVLVS SLVSNLLHST LQLYKHNLSP
1110 1120 1130 1140 1150
NFCVMHLEDR LQELYFKSKM LSEYLRGQMR VHVKELGVVL GIESSDLPLL
1160
AAVASTHSPY VAQILL
Length:1,166
Mass (Da):130,555
Last modified:November 30, 2010 - v3
Checksum:i3B99DBA98E7169C5
GO
Isoform 2 (identifier: Q8TF40-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     508-508: D → M
     509-1166: Missing.

Note: No experimental confirmation available.

Show »
Length:508
Mass (Da):56,802
Checksum:i59A0719AD6A85CF9
GO
Isoform 3 (identifier: Q8TF40-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     208-235: Missing.

Note: No experimental confirmation available.

Show »
Length:1,138
Mass (Da):127,444
Checksum:i3CA14555745B9C37
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti76 – 761G → C.2 Publications
Corresponds to variant rs7730228 [ dbSNP | Ensembl ].
VAR_036824
Natural varianti354 – 3541S → L.
Corresponds to variant rs13177318 [ dbSNP | Ensembl ].
VAR_036825
Natural varianti648 – 6481Q → R.3 Publications
Corresponds to variant rs26008 [ dbSNP | Ensembl ].
VAR_036826
Natural varianti738 – 7381V → L.
Corresponds to variant rs12109782 [ dbSNP | Ensembl ].
VAR_036827
Natural varianti844 – 8441I → V.
Corresponds to variant rs7717874 [ dbSNP | Ensembl ].
VAR_036828

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei208 – 23528Missing in isoform 3. 1 PublicationVSP_028984Add
BLAST
Alternative sequencei508 – 5081D → M in isoform 2. 1 PublicationVSP_028982
Alternative sequencei509 – 1166658Missing in isoform 2. 1 PublicationVSP_028983Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS34226.1. [Q8TF40-3]
CCDS34227.1. [Q8TF40-1]
RefSeqiNP_001008738.2. NM_001008738.2.
NP_588613.2. NM_133372.2.
UniGeneiHs.591273.

Genome annotation databases

EnsembliENST00000307968; ENSP00000309266; ENSG00000217128. [Q8TF40-3]
ENST00000510461; ENSP00000421985; ENSG00000217128. [Q8TF40-1]
ENST00000511848; ENSP00000425619; ENSG00000217128. [Q8TF40-2]
GeneIDi96459.
KEGGihsa:96459.
UCSCiuc003kvs.1. human. [Q8TF40-1]
uc003kvt.1. human. [Q8TF40-3]
uc003kvu.3. human. [Q8TF40-2]

Polymorphism databases

DMDMi313104236.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS34226.1. [Q8TF40-3 ]
CCDS34227.1. [Q8TF40-1 ]
RefSeqi NP_001008738.2. NM_001008738.2.
NP_588613.2. NM_133372.2.
UniGenei Hs.591273.

3D structure databases

ProteinModelPortali Q8TF40.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125175. 9 interactions.
IntActi Q8TF40. 8 interactions.
MINTi MINT-7298196.
STRINGi 9606.ENSP00000310453.

PTM databases

PhosphoSitei Q8TF40.

Polymorphism databases

DMDMi 313104236.

Proteomic databases

MaxQBi Q8TF40.
PaxDbi Q8TF40.
PRIDEi Q8TF40.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000307968 ; ENSP00000309266 ; ENSG00000217128 . [Q8TF40-3 ]
ENST00000510461 ; ENSP00000421985 ; ENSG00000217128 . [Q8TF40-1 ]
ENST00000511848 ; ENSP00000425619 ; ENSG00000217128 . [Q8TF40-2 ]
GeneIDi 96459.
KEGGi hsa:96459.
UCSCi uc003kvs.1. human. [Q8TF40-1 ]
uc003kvt.1. human. [Q8TF40-3 ]
uc003kvu.3. human. [Q8TF40-2 ]

Organism-specific databases

CTDi 96459.
GeneCardsi GC05M130977.
HGNCi HGNC:29418. FNIP1.
MIMi 610594. gene.
neXtProti NX_Q8TF40.
PharmGKBi PA142671758.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG330489.
GeneTreei ENSGT00390000009391.
HOGENOMi HOG000112624.
HOVERGENi HBG059425.
InParanoidi Q8TF40.
PhylomeDBi Q8TF40.
TreeFami TF324090.

Miscellaneous databases

GenomeRNAii 96459.
NextBioi 78545.
PROi Q8TF40.
SOURCEi Search...

Gene expression databases

Bgeei Q8TF40.
CleanExi HS_FNIP1.
ExpressionAtlasi Q8TF40. baseline and differential.
Genevestigatori Q8TF40.

Family and domain databases

InterProi IPR028086. FNIP_C_dom.
IPR026156. FNIP_fam.
IPR028085. FNIP_mid_dom.
IPR028084. FNIP_N_dom.
[Graphical view ]
PANTHERi PTHR21634. PTHR21634. 1 hit.
Pfami PF14638. FNIP_C. 1 hit.
PF14637. FNIP_M. 1 hit.
PF14636. FNIP_N. 1 hit.
[Graphical view ]
PRINTSi PR02073. FOLLICULNIP1.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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. 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. 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.

Entry informationi

Entry nameiFNIP1_HUMAN
AccessioniPrimary (citable) accession number: Q8TF40
Secondary accession number(s): D6RJH5, Q86T47, Q9BUT0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: November 30, 2010
Last modified: October 29, 2014
This is version 81 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Miscellaneous

Elevated expression levels in histologic variants of renal tumors.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3