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A1X283

- SPD2B_HUMAN

UniProt

A1X283 - SPD2B_HUMAN

Protein

SH3 and PX domain-containing protein 2B

Gene

SH3PXD2B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 71 (01 Oct 2014)
      Sequence version 3 (05 May 2009)
      Previous versions | rss
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    Functioni

    Adapter protein involved in invadopodia and podosome formation and extracellular matrix degradation. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. Plays a role in mitotic clonal expansion during the immediate early stage of adipocyte differentiation By similarity.By similarity

    GO - Molecular functioni

    1. phosphatidylinositol-3,5-bisphosphate binding Source: UniProtKB
    2. phosphatidylinositol-3-phosphate binding Source: UniProtKB
    3. phosphatidylinositol-4-phosphate binding Source: Ensembl
    4. phosphatidylinositol-5-phosphate binding Source: UniProtKB
    5. protein binding Source: UniProtKB
    6. SH2 domain binding Source: UniProtKB

    GO - Biological processi

    1. adipose tissue development Source: UniProtKB
    2. bone development Source: UniProtKB
    3. cell differentiation Source: UniProtKB-KW
    4. extracellular matrix disassembly Source: UniProtKB
    5. eye development Source: UniProtKB
    6. heart development Source: UniProtKB
    7. podosome assembly Source: UniProtKB
    8. positive regulation of fat cell differentiation Source: Ensembl
    9. protein localization to membrane Source: UniProtKB
    10. skeletal system development Source: UniProtKB
    11. superoxide metabolic process Source: UniProtKB

    Keywords - Biological processi

    Differentiation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    SH3 and PX domain-containing protein 2B
    Alternative name(s):
    Adapter protein HOFI
    Factor for adipocyte differentiation 49
    Tyrosine kinase substrate with four SH3 domains
    Gene namesi
    Name:SH3PXD2B
    Synonyms:FAD49, KIAA1295, TKS4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:29242. SH3PXD2B.

    Subcellular locationi

    Cytoplasm By similarity. Cell projectionpodosome By similarity
    Note: Cytoplasmic in normal cells and localizes to podosomes in SRC-transformed cells.By similarity

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. cell projection Source: UniProtKB-KW
    3. cytoplasm Source: UniProtKB
    4. podosome Source: UniProtKB

    Keywords - Cellular componenti

    Cell junction, Cell projection, Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Frank-Ter Haar syndrome (FTHS) [MIM:249420]: A syndrome characterized by brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones and flexion deformity of the fingers.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti43 – 431R → W in FTHS. 1 Publication
    VAR_063764

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi249420. phenotype.
    Orphaneti137834. Frank-Ter Haar syndrome.
    PharmGKBiPA134864119.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 911911SH3 and PX domain-containing protein 2BPRO_0000312201Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei279 – 2791Phosphoserine1 Publication
    Modified residuei291 – 2911Phosphoserine2 Publications
    Modified residuei843 – 8431PhosphoserineBy similarity

    Post-translational modificationi

    Phosphorylated in SRC-transformed cells.By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiA1X283.
    PaxDbiA1X283.
    PRIDEiA1X283.

    PTM databases

    PhosphoSiteiA1X283.

    Expressioni

    Tissue specificityi

    Expressed in fibroblasts.1 Publication

    Gene expression databases

    ArrayExpressiA1X283.
    BgeeiA1X283.
    CleanExiHS_SH3PXD2B.
    GenevestigatoriA1X283.

    Organism-specific databases

    HPAiHPA036471.

    Interactioni

    Subunit structurei

    Interacts with ADAM15 By similarity. Interacts with NOXO1. Interacts (via SH3 domains) with NOXA1; the interaction is direct. Interacts with FASLG.By similarity4 Publications

    Protein-protein interaction databases

    BioGridi130149. 6 interactions.
    IntActiA1X283. 2 interactions.
    STRINGi9606.ENSP00000309714.

    Structurei

    3D structure databases

    ProteinModelPortaliA1X283.
    SMRiA1X283. Positions 7-132, 153-278, 370-550, 842-910.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini5 – 129125PXPROSITE-ProRule annotationAdd
    BLAST
    Domaini152 – 21160SH3 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini221 – 28060SH3 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini368 – 42760SH3 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini849 – 91163SH3 4PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi729 – 80678Pro-richAdd
    BLAST

    Domaini

    The PX domain is required for podosome localization because of its ability to bind phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) and, to a lesser extent, phosphatidylinositol 4-phosphate (PtdIns4P), phosphatidylinositol 5-phosphate (PtdIns5P), and phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Binds to the third intramolecular SH3 domain By similarity.By similarity

    Sequence similaritiesi

    Belongs to the SH3PXD2 family.Curated
    Contains 1 PX (phox homology) domain.PROSITE-ProRule annotation
    Contains 4 SH3 domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, SH3 domain

    Phylogenomic databases

    eggNOGiNOG148927.
    HOGENOMiHOG000154376.
    HOVERGENiHBG107128.
    InParanoidiA1X283.
    OMAiGHKVLAK.
    OrthoDBiEOG7H4DSQ.
    PhylomeDBiA1X283.
    TreeFamiTF329347.

    Family and domain databases

    Gene3Di3.30.1520.10. 1 hit.
    InterProiIPR001683. Phox.
    IPR011511. SH3_2.
    IPR001452. SH3_domain.
    [Graphical view]
    PfamiPF00787. PX. 1 hit.
    PF00018. SH3_1. 3 hits.
    PF07653. SH3_2. 1 hit.
    [Graphical view]
    SMARTiSM00312. PX. 1 hit.
    SM00326. SH3. 4 hits.
    [Graphical view]
    SUPFAMiSSF50044. SSF50044. 4 hits.
    SSF64268. SSF64268. 1 hit.
    PROSITEiPS50195. PX. 1 hit.
    PS50002. SH3. 4 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    A1X283-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPPRRSIVEV KVLDVQKRRV PNKHYVYIIR VTWSSGSTEA IYRRYSKFFD    50
    LQMQMLDKFP MEGGQKDPKQ RIIPFLPGKI LFRRSHIRDV AVKRLIPIDE 100
    YCKALIQLPP YISQCDEVLQ FFETRPEDLN PPKEEHIGKK KSGGDQTSVD 150
    PMVLEQYVVV ANYQKQESSE ISLSVGQVVD IIEKNESGWW FVSTAEEQGW 200
    VPATCLEGQD GVQDEFSLQP EEEEKYTVIY PYTARDQDEM NLERGAVVEV 250
    IQKNLEGWWK IRYQGKEGWA PASYLKKNSG EPLPPKPGPG SPSHPGALDL 300
    DGVSRQQNAV GREKELLSSQ RDGRFEGRPV PDGDAKQRSP KMRQRPPPRR 350
    DMTIPRGLNL PKPPIPPQVE EEYYTIAEFQ TTIPDGISFQ AGLKVEVIEK 400
    NLSGWWYIQI EDKEGWAPAT FIDKYKKTSN ASRPNFLAPL PHEVTQLRLG 450
    EAAALENNTG SEATGPSRPL PDAPHGVMDS GLPWSKDWKG SKDVLRKASS 500
    DMSASAGYEE ISDPDMEEKP SLPPRKESII KSEGELLERE RERQRTEQLR 550
    GPTPKPPGVI LPMMPAKHIP PARDSRRPEP KPDKSRLFQL KNDMGLECGH 600
    KVLAKEVKKP NLRPISKSKT DLPEEKPDAT PQNPFLKSRP QVRPKPAPSP 650
    KTEPPQGEDQ VDICNLRSKL RPAKSQDKSL LDGEGPQAVG GQDVAFSRSF 700
    LPGEGPGRAQ DRTGKQDGLS PKEISCRAPP RPAKTTDPVS KSVPVPLQEA 750
    PQQRPVVPPR RPPPPKKTSS SSRPLPEVRG PQCEGHESRA APTPGRALLV 800
    PPKAKPFLSN SLGGQDDTRG KGSLGPWGTG KIGENREKAA AASVPNADGL 850
    KDSLYVAVAD FEGDKDTSSF QEGTVFEVRE KNSSGWWFCQ VLSGAPSWEG 900
    WIPSNYLRKK P 911
    Length:911
    Mass (Da):101,579
    Last modified:May 5, 2009 - v3
    Checksum:iA5AA524F9AA21318
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti28 – 281I → V in AAZ99795. 1 PublicationCurated
    Sequence conflicti72 – 721I → T in AAZ99795. 1 PublicationCurated
    Sequence conflicti712 – 7121R → G in AAZ99795. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti43 – 431R → W in FTHS. 1 Publication
    VAR_063764
    Natural varianti101 – 1011Y → F.
    Corresponds to variant rs6880739 [ dbSNP | Ensembl ].
    VAR_046226

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB430862 mRNA. Translation: BAG81977.1.
    DQ109556 mRNA. Translation: AAZ99795.1.
    AC008671 Genomic DNA. No translation available.
    AC011407 Genomic DNA. No translation available.
    AC090064 Genomic DNA. No translation available.
    AB037716 mRNA. Translation: BAA92533.1.
    CCDSiCCDS34291.1.
    RefSeqiNP_001017995.1. NM_001017995.2.
    UniGeneiHs.285666.

    Genome annotation databases

    EnsembliENST00000311601; ENSP00000309714; ENSG00000174705.
    GeneIDi285590.
    KEGGihsa:285590.
    UCSCiuc003mbr.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB430862 mRNA. Translation: BAG81977.1 .
    DQ109556 mRNA. Translation: AAZ99795.1 .
    AC008671 Genomic DNA. No translation available.
    AC011407 Genomic DNA. No translation available.
    AC090064 Genomic DNA. No translation available.
    AB037716 mRNA. Translation: BAA92533.1 .
    CCDSi CCDS34291.1.
    RefSeqi NP_001017995.1. NM_001017995.2.
    UniGenei Hs.285666.

    3D structure databases

    ProteinModelPortali A1X283.
    SMRi A1X283. Positions 7-132, 153-278, 370-550, 842-910.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 130149. 6 interactions.
    IntActi A1X283. 2 interactions.
    STRINGi 9606.ENSP00000309714.

    PTM databases

    PhosphoSitei A1X283.

    Proteomic databases

    MaxQBi A1X283.
    PaxDbi A1X283.
    PRIDEi A1X283.

    Protocols and materials databases

    DNASUi 285590.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000311601 ; ENSP00000309714 ; ENSG00000174705 .
    GeneIDi 285590.
    KEGGi hsa:285590.
    UCSCi uc003mbr.3. human.

    Organism-specific databases

    CTDi 285590.
    GeneCardsi GC05M171693.
    H-InvDB HIX0005417.
    HGNCi HGNC:29242. SH3PXD2B.
    HPAi HPA036471.
    MIMi 249420. phenotype.
    613293. gene.
    neXtProti NX_A1X283.
    Orphaneti 137834. Frank-Ter Haar syndrome.
    PharmGKBi PA134864119.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG148927.
    HOGENOMi HOG000154376.
    HOVERGENi HBG107128.
    InParanoidi A1X283.
    OMAi GHKVLAK.
    OrthoDBi EOG7H4DSQ.
    PhylomeDBi A1X283.
    TreeFami TF329347.

    Miscellaneous databases

    ChiTaRSi SH3PXD2B. human.
    GenomeRNAii 285590.
    NextBioi 95625.
    PROi A1X283.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi A1X283.
    Bgeei A1X283.
    CleanExi HS_SH3PXD2B.
    Genevestigatori A1X283.

    Family and domain databases

    Gene3Di 3.30.1520.10. 1 hit.
    InterProi IPR001683. Phox.
    IPR011511. SH3_2.
    IPR001452. SH3_domain.
    [Graphical view ]
    Pfami PF00787. PX. 1 hit.
    PF00018. SH3_1. 3 hits.
    PF07653. SH3_2. 1 hit.
    [Graphical view ]
    SMARTi SM00312. PX. 1 hit.
    SM00326. SH3. 4 hits.
    [Graphical view ]
    SUPFAMi SSF50044. SSF50044. 4 hits.
    SSF64268. SSF64268. 1 hit.
    PROSITEi PS50195. PX. 1 hit.
    PS50002. SH3. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel gene, fad49, plays a crucial role in the immediate early stage of adipocyte differentiation via involvement in mitotic clonal expansion."
      Hishida T., Eguchi T., Osada S., Nishizuka M., Imagawa M.
      FEBS J. 275:5576-5588(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Identification and characterization of HOFI, a novel homolog of FISH."
      Lanyi A., Geiszt M.
      Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "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].
    4. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
      DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 362-911.
      Tissue: Brain.
    5. "The adaptor protein fish associates with members of the ADAMs family and localizes to podosomes of Src-transformed cells."
      Abram C.L., Seals D.F., Pass I., Salinsky D., Maurer L., Roth T.M., Courtneidge S.A.
      J. Biol. Chem. 278:16844-16851(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, DOMAIN PX, INTERACTION WITH ADAM12; ADAM15 AND ADAM19.
    6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-291, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. "Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening."
      Voss M., Lettau M., Janssen O.
      BMC Immunol. 10:53-53(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH FASLG.
    8. "Novel p47(phox)-related organizers regulate localized NADPH oxidase 1 (Nox1) activity."
      Gianni D., Diaz B., Taulet N., Fowler B., Courtneidge S.A., Bokoch G.M.
      Sci. Signal. 2:RA54-RA54(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH NOXA1.
    9. Cited for: TISSUE SPECIFICITY, VARIANT FTHS TRP-43.
    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-279 AND SER-291, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. "Direct interaction between Tks proteins and the N-terminal proline-rich region (PRR) of NoxA1 mediates Nox1-dependent ROS generation."
      Gianni D., Dermardirossian C., Bokoch G.M.
      Eur. J. Cell Biol. 90:164-171(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH NOXA1 AND NOXO1.
    12. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiSPD2B_HUMAN
    AccessioniPrimary (citable) accession number: A1X283
    Secondary accession number(s): B6F0V2, Q9P2Q1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 4, 2007
    Last sequence update: May 5, 2009
    Last modified: October 1, 2014
    This is version 71 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

    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