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Q5JSP0

- FGD3_HUMAN

UniProt

Q5JSP0 - FGD3_HUMAN

Protein

FYVE, RhoGEF and PH domain-containing protein 3

Gene

FGD3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 1 (15 Feb 2005)
      Previous versions | rss
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    Functioni

    Promotes the formation of filopodia. May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri532 – 58857FYVE-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. guanyl-nucleotide exchange factor activity Source: UniProtKB
    2. metal ion binding Source: UniProtKB-KW
    3. Rho guanyl-nucleotide exchange factor activity Source: InterPro
    4. small GTPase binding Source: UniProtKB

    GO - Biological processi

    1. actin cytoskeleton organization Source: UniProtKB
    2. apoptotic signaling pathway Source: Reactome
    3. cytoskeleton organization Source: UniProtKB
    4. filopodium assembly Source: UniProtKB
    5. neurotrophin TRK receptor signaling pathway Source: Reactome
    6. positive regulation of apoptotic process Source: Reactome
    7. positive regulation of GTPase activity Source: GOC
    8. regulation of Cdc42 GTPase activity Source: UniProtKB
    9. regulation of cell shape Source: UniProtKB
    10. regulation of small GTPase mediated signal transduction Source: Reactome
    11. small GTPase mediated signal transduction Source: Reactome

    Keywords - Molecular functioni

    Guanine-nucleotide releasing factor

    Keywords - Ligandi

    Metal-binding, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_11051. Rho GTPase cycle.
    REACT_13638. NRAGE signals death through JNK.
    REACT_18407. G alpha (12/13) signalling events.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    FYVE, RhoGEF and PH domain-containing protein 3
    Alternative name(s):
    Zinc finger FYVE domain-containing protein 5
    Gene namesi
    Name:FGD3
    Synonyms:ZFYVE5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:16027. FGD3.

    Subcellular locationi

    Cytoplasm Curated. Cytoplasmcytoskeleton Curated

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytoskeleton Source: UniProtKB-SubCell
    3. cytosol Source: Reactome
    4. Golgi apparatus Source: UniProtKB
    5. lamellipodium Source: UniProtKB
    6. ruffle Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28104.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 725725FYVE, RhoGEF and PH domain-containing protein 3PRO_0000080944Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei128 – 1281Phosphoserine2 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ5JSP0.
    PaxDbiQ5JSP0.
    PRIDEiQ5JSP0.

    PTM databases

    PhosphoSiteiQ5JSP0.

    Expressioni

    Gene expression databases

    ArrayExpressiQ5JSP0.
    BgeeiQ5JSP0.
    CleanExiHS_FGD3.
    GenevestigatoriQ5JSP0.

    Organism-specific databases

    HPAiHPA020963.
    HPA021018.

    Interactioni

    Protein-protein interaction databases

    BioGridi124618. 3 interactions.
    STRINGi9606.ENSP00000336914.

    Structurei

    Secondary structure

    1
    725
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi605 – 61814
    Beta strandi620 – 6267
    Beta strandi635 – 6384
    Beta strandi644 – 6463
    Beta strandi648 – 6503
    Helixi652 – 6543
    Beta strandi656 – 6583
    Beta strandi662 – 6643
    Beta strandi667 – 67610
    Beta strandi679 – 6879
    Helixi688 – 70215

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2COCNMR-A605-703[»]
    ProteinModelPortaliQ5JSP0.
    SMRiQ5JSP0. Positions 161-472, 528-584, 606-703.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ5JSP0.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini157 – 341185DHPROSITE-ProRule annotationAdd
    BLAST
    Domaini370 – 469100PH 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini604 – 703100PH 2PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 DH (DBL-homology) domain.PROSITE-ProRule annotation
    Contains 1 FYVE-type zinc finger.PROSITE-ProRule annotation
    Contains 2 PH domains.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri532 – 58857FYVE-typePROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5422.
    HOGENOMiHOG000220866.
    HOVERGENiHBG007506.
    InParanoidiQ5JSP0.
    KOiK05722.
    OMAiTPHEEAD.
    OrthoDBiEOG7C2R0M.
    PhylomeDBiQ5JSP0.
    TreeFamiTF316247.

    Family and domain databases

    Gene3Di1.20.900.10. 1 hit.
    2.30.29.30. 2 hits.
    3.30.40.10. 1 hit.
    InterProiIPR000219. DH-domain.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR000306. Znf_FYVE.
    IPR017455. Znf_FYVE-rel.
    IPR011011. Znf_FYVE_PHD.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view]
    PfamiPF01363. FYVE. 1 hit.
    PF00169. PH. 1 hit.
    PF00621. RhoGEF. 1 hit.
    [Graphical view]
    SMARTiSM00064. FYVE. 1 hit.
    SM00233. PH. 2 hits.
    SM00325. RhoGEF. 1 hit.
    [Graphical view]
    SUPFAMiSSF48065. SSF48065. 1 hit.
    SSF57903. SSF57903. 2 hits.
    PROSITEiPS50010. DH_2. 1 hit.
    PS50003. PH_DOMAIN. 2 hits.
    PS50178. ZF_FYVE. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5JSP0-1) [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

    MESGRGSSTP PGPIAALGMP DTGPGSSSLG KLQALPVGPR AHCGDPVSLA    50
    AAGDGSPDIG PTGELSGSLK IPNRDSGIDS PSSSVAGENF PCEEGLEAGP 100
    SPTVLGAHAE MALDSQVPKV TPQEEADSDV GEEPDSENTP QKADKDAGLA 150
    QHSGPQKLLH IAQELLHTEE TYVKRLHLLD QVFCTRLTDA GIPPEVIMGI 200
    FSNISSIHRF HGQFLLPELK TRITEEWDTN PRLGDILQKL APFLKMYGEY 250
    VKNFDRAVGL VSTWTQRSPL FKDVVHSIQK QEVCGNLTLQ HHMLEPVQRV 300
    PRYELLLKDY LKRLPQDAPD RKDAERSLEL ISTAANHSNA AIRKVEKMHK 350
    LLEVYEQLGG EEDIVNPANE LIKEGQIQKL SAKNGTPQDR HLFLFNSMIL 400
    YCVPKLRLMG QKFSVREKMD ISGLQVQDIV KPNTAHTFII TGRKRSLELQ 450
    TRTEEEKKEW IQIIQATIEK HKQNSETFKA FGGAFSQDED PSLSPDMPIT 500
    STSPVEPVVT TEGSSGAAGL EPRKLSSKTR RDKEKQSCKS CGETFNSITK 550
    RRHHCKLCGA VICGKCSEFK AENSRQSRVC RDCFLTQPVA PESTEKTPTA 600
    DPQPSLLCGP LRLSESGETW SEVWAAIPMS DPQVLHLQGG SQDGRLPRTI 650
    PLPSCKLSVP DPEERLDSGH VWKLQWAKQS WYLSASSAEL QQQWLETLST 700
    AAHGDTAQDS PGALQLQVPM GAAAP 725
    Length:725
    Mass (Da):79,401
    Last modified:February 15, 2005 - v1
    Checksum:i665A7FF5BE16B44B
    GO
    Isoform 2 (identifier: Q5JSP0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         596-634: KTPTADPQPS...AAIPMSDPQV → VGAPSSCSPP...SAFGVSLGPG
         635-725: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:634
    Mass (Da):68,794
    Checksum:i6EC385CE5B2CB426
    GO
    Isoform 3 (identifier: Q5JSP0-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         596-596: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:724
    Mass (Da):79,273
    Checksum:i4D87C3D1D8FAB9B4
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti275 – 2751V → I.1 Publication
    Corresponds to variant rs3802384 [ dbSNP | Ensembl ].
    VAR_021492

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei596 – 63439KTPTA…SDPQV → VGAPSSCSPPGGAAEPPDTC SCAPAAPAASAFGVSLGPG in isoform 2. 1 PublicationVSP_013074Add
    BLAST
    Alternative sequencei596 – 5961Missing in isoform 3. CuratedVSP_055703
    Alternative sequencei635 – 72591Missing in isoform 2. 1 PublicationVSP_013075Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY211386 mRNA. Translation: AAP20645.1.
    AL389924 Genomic DNA. No translation available.
    AL451065 Genomic DNA. No translation available.
    BC032429 mRNA. Translation: AAH32429.1.
    BC111054 mRNA. Translation: AAI11055.1.
    CCDSiCCDS43849.1. [Q5JSP0-1]
    RefSeqiNP_001077005.1. NM_001083536.1. [Q5JSP0-1]
    NP_001273922.1. NM_001286993.1.
    NP_149077.2. NM_033086.2. [Q5JSP0-1]
    UniGeneiHs.411081.

    Genome annotation databases

    EnsembliENST00000337352; ENSP00000336914; ENSG00000127084. [Q5JSP0-1]
    ENST00000375482; ENSP00000364631; ENSG00000127084. [Q5JSP0-1]
    ENST00000416701; ENSP00000413833; ENSG00000127084. [Q5JSP0-3]
    ENST00000467786; ENSP00000432310; ENSG00000127084. [Q5JSP0-2]
    GeneIDi89846.
    KEGGihsa:89846.
    UCSCiuc004asw.2. human. [Q5JSP0-1]

    Polymorphism databases

    DMDMi61213216.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY211386 mRNA. Translation: AAP20645.1 .
    AL389924 Genomic DNA. No translation available.
    AL451065 Genomic DNA. No translation available.
    BC032429 mRNA. Translation: AAH32429.1 .
    BC111054 mRNA. Translation: AAI11055.1 .
    CCDSi CCDS43849.1. [Q5JSP0-1 ]
    RefSeqi NP_001077005.1. NM_001083536.1. [Q5JSP0-1 ]
    NP_001273922.1. NM_001286993.1.
    NP_149077.2. NM_033086.2. [Q5JSP0-1 ]
    UniGenei Hs.411081.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2COC NMR - A 605-703 [» ]
    ProteinModelPortali Q5JSP0.
    SMRi Q5JSP0. Positions 161-472, 528-584, 606-703.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124618. 3 interactions.
    STRINGi 9606.ENSP00000336914.

    PTM databases

    PhosphoSitei Q5JSP0.

    Polymorphism databases

    DMDMi 61213216.

    Proteomic databases

    MaxQBi Q5JSP0.
    PaxDbi Q5JSP0.
    PRIDEi Q5JSP0.

    Protocols and materials databases

    DNASUi 89846.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000337352 ; ENSP00000336914 ; ENSG00000127084 . [Q5JSP0-1 ]
    ENST00000375482 ; ENSP00000364631 ; ENSG00000127084 . [Q5JSP0-1 ]
    ENST00000416701 ; ENSP00000413833 ; ENSG00000127084 . [Q5JSP0-3 ]
    ENST00000467786 ; ENSP00000432310 ; ENSG00000127084 . [Q5JSP0-2 ]
    GeneIDi 89846.
    KEGGi hsa:89846.
    UCSCi uc004asw.2. human. [Q5JSP0-1 ]

    Organism-specific databases

    CTDi 89846.
    GeneCardsi GC09P095709.
    HGNCi HGNC:16027. FGD3.
    HPAi HPA020963.
    HPA021018.
    neXtProti NX_Q5JSP0.
    PharmGKBi PA28104.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5422.
    HOGENOMi HOG000220866.
    HOVERGENi HBG007506.
    InParanoidi Q5JSP0.
    KOi K05722.
    OMAi TPHEEAD.
    OrthoDBi EOG7C2R0M.
    PhylomeDBi Q5JSP0.
    TreeFami TF316247.

    Enzyme and pathway databases

    Reactomei REACT_11051. Rho GTPase cycle.
    REACT_13638. NRAGE signals death through JNK.
    REACT_18407. G alpha (12/13) signalling events.

    Miscellaneous databases

    ChiTaRSi FGD3. human.
    EvolutionaryTracei Q5JSP0.
    GeneWikii FGD3.
    GenomeRNAii 89846.
    NextBioi 76332.
    PROi Q5JSP0.

    Gene expression databases

    ArrayExpressi Q5JSP0.
    Bgeei Q5JSP0.
    CleanExi HS_FGD3.
    Genevestigatori Q5JSP0.

    Family and domain databases

    Gene3Di 1.20.900.10. 1 hit.
    2.30.29.30. 2 hits.
    3.30.40.10. 1 hit.
    InterProi IPR000219. DH-domain.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR000306. Znf_FYVE.
    IPR017455. Znf_FYVE-rel.
    IPR011011. Znf_FYVE_PHD.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view ]
    Pfami PF01363. FYVE. 1 hit.
    PF00169. PH. 1 hit.
    PF00621. RhoGEF. 1 hit.
    [Graphical view ]
    SMARTi SM00064. FYVE. 1 hit.
    SM00233. PH. 2 hits.
    SM00325. RhoGEF. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48065. SSF48065. 1 hit.
    SSF57903. SSF57903. 2 hits.
    PROSITEi PS50010. DH_2. 1 hit.
    PS50003. PH_DOMAIN. 2 hits.
    PS50178. ZF_FYVE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of a human FGD3 gene: a novel faciogenital dysplasia (FGD1; Aarskog syndrome) gene homolog."
      Shan Y.X., Yu L.
      Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    2. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(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 1), VARIANT ILE-275.
      Tissue: Brain.
    4. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-128, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Platelet.
    5. "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-128, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    6. "Solution structure of the C-terminal PH domain of FYVE, RhoGEF and PH domain containing protein 3 (FGD3) from human."
      RIKEN structural genomics initiative (RSGI)
      Submitted (NOV-2005) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 605-703.

    Entry informationi

    Entry nameiFGD3_HUMAN
    AccessioniPrimary (citable) accession number: Q5JSP0
    Secondary accession number(s): F8W7P2
    , Q4VX84, Q7Z7D9, Q8N5G1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 15, 2005
    Last sequence update: February 15, 2005
    Last modified: October 1, 2014
    This is version 102 of the entry and version 1 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

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3