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Q9BZ72

- PITM2_HUMAN

UniProt

Q9BZ72 - PITM2_HUMAN

Protein

Membrane-associated phosphatidylinositol transfer protein 2

Gene

PITPNM2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro). Binds calcium ions.1 Publication

    GO - Molecular functioni

    1. calcium ion binding Source: UniProtKB
    2. lipid binding Source: UniProtKB-KW

    GO - Biological processi

    1. metabolic process Source: UniProtKB
    2. transport Source: InterPro

    Keywords - Ligandi

    Calcium, Lipid-binding, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Membrane-associated phosphatidylinositol transfer protein 2
    Alternative name(s):
    Phosphatidylinositol transfer protein, membrane-associated 2
    Short name:
    PITPnm 2
    Pyk2 N-terminal domain-interacting receptor 3
    Short name:
    NIR-3
    Gene namesi
    Name:PITPNM2
    Synonyms:KIAA1457, NIR3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:21044. PITPNM2.

    Subcellular locationi

    Endomembrane system 1 Publication; Peripheral membrane protein 1 Publication

    GO - Cellular componenti

    1. endomembrane system Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB
    3. intracellular membrane-bounded organelle Source: HPA

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134963002.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 13491349Membrane-associated phosphatidylinositol transfer protein 2PRO_0000232741Add
    BLAST

    Proteomic databases

    MaxQBiQ9BZ72.
    PaxDbiQ9BZ72.
    PRIDEiQ9BZ72.

    PTM databases

    PhosphoSiteiQ9BZ72.

    Expressioni

    Tissue specificityi

    Highly expressed in brain, heart, ovary, testis and thymus. Detected in small intestine, prostate, pancreas, skeletal muscle, liver, colon and placenta.1 Publication

    Gene expression databases

    ArrayExpressiQ9BZ72.
    BgeeiQ9BZ72.
    CleanExiHS_PITPNM2.
    GenevestigatoriQ9BZ72.

    Organism-specific databases

    HPAiHPA003414.
    HPA003978.

    Interactioni

    Subunit structurei

    Interacts with PTK2B via its C-terminus.1 Publication

    Protein-protein interaction databases

    BioGridi121653. 1 interaction.
    IntActiQ9BZ72. 1 interaction.
    STRINGi9606.ENSP00000322218.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BZ72.
    SMRiQ9BZ72. Positions 1-250.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini715 – 963249DDHDPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi612 – 63221Gly-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 DDHD domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG5083.
    HOGENOMiHOG000294231.
    HOVERGENiHBG052733.
    InParanoidiQ9BZ72.
    OMAiIPRYQRY.
    OrthoDBiEOG7NW69J.
    PhylomeDBiQ9BZ72.
    TreeFamiTF312967.

    Family and domain databases

    Gene3Di3.30.530.20. 1 hit.
    3.40.50.1000. 1 hit.
    InterProiIPR004177. DDHD.
    IPR023214. HAD-like_dom.
    IPR013209. LNS2.
    IPR001666. PI_transfer.
    IPR023393. START-like_dom.
    [Graphical view]
    PANTHERiPTHR10658. PTHR10658. 1 hit.
    PfamiPF02862. DDHD. 1 hit.
    PF02121. IP_trans. 1 hit.
    PF08235. LNS2. 1 hit.
    [Graphical view]
    PRINTSiPR00391. PITRANSFER.
    SMARTiSM00775. LNS2. 1 hit.
    [Graphical view]
    SUPFAMiSSF56784. SSF56784. 1 hit.
    PROSITEiPS51043. DDHD. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BZ72-1) [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

    MIIKEYRIPL PMTVEEYRIA QLYMIQKKSR NETYGEGSGV EILENRPYTD     50
    GPGGSGQYTH KVYHVGMHIP SWFRSILPKA ALRVVEESWN AYPYTRTRFT 100
    CPFVEKFSID IETFYKTDAG ENPDVFNLSP VEKNQLTIDF IDIVKDPVPH 150
    NEYKTEEDPK LFQSTKTQRG PLSENWIEEY KKQVFPIMCA YKLCKVEFRY 200
    WGMQSKIERF IHDTGLRRVM VRAHRQAWCW QDEWYGLSME NIRELEKEAQ 250
    LMLSRKMAQF NEDGEEATEL VKHEAVSDQT SGEPPEPSSS NGEPLVGRGL 300
    KKQWSTSSKS SRSSKRGASP SRHSISEWRM QSIARDSDES SDDEFFDAHE 350
    DLSDTEEMFP KDITKWSSND LMDKIESPEP EDTQDGLYRQ GAPEFRVASS 400
    VEQLNIIEDE VSQPLAAPPS KIHVLLLVLH GGTILDTGAG DPSSKKGDAN 450
    TIANVFDTVM RVHYPSALGR LAIRLVPCPP VCSDAFALVS NLSPYSHDEG 500
    CLSSSQDHIP LAALPLLATS SPQYQEAVAT VIQRANLAYG DFIKSQEGMT 550
    FNGQVCLIGD CVGGILAFDA LCYSNQPVSE SQSSSRRGSV VSMQDNDLLS 600
    PGILMNAAHC CGGGGGGGGG GGSSGGGGSS GGSSLESSRH LSRSNVDIPR 650
    SNGTEDPKRQ LPRKRSDSST YELDTIQQHQ AFLSSLHASV LRTEPCSRHS 700
    SSSTMLDGTG ALGRFDFEIT DLFLFGCPLG LVLALRKTVI PALDVFQLRP 750
    ACQQVYNLFH PADPSASRLE PLLERRFHAL PPFSVPRYQR YPLGDGCSTL 800
    LADVLQTHNA AFQEHGAPSS PGTAPASRGF RRASEISIAS QVSGMAESYT 850
    ASSIAQKAPD ALSHTPSVRR LSLLALPAPS PTTPGPHPPA RKASPGLERA 900
    PGLPELDIGE VAAKWWGQKR IDYALYCPDA LTAFPTVALP HLFHASYWES 950
    TDVVSFLLRQ VMRHDNSSIL ELDGKEVSVF TPSKPREKWQ RKRTHVKLRN 1000
    VTANHRINDA LANEDGPQVL TGRFMYGPLD MVTLTGEKVD VHIMTQPPSG 1050
    EWLYLDTLVT NNSGRVSYTI PESHRLGVGV YPIKMVVRGD HTFADSYITV 1100
    LPKGTEFVVF SIDGSFAASV SIMGSDPKVR AGAVDVVRHW QDLGYLIIYV 1150
    TGRPDMQKQR VVAWLAQHNF PHGVVSFCDG LVHDPLRHKA NFLKLLISEL 1200
    HLRVHAAYGS TKDVAVYSAI SLSPMQIYIV GRPTKKLQQQ CQFITDGYAA 1250
    HLAQLKYSHR ARPARNTATR MALRKGSFGL PGQGDFLRSR NHLLRTISAQ 1300
    PSGPSHRHER TQSQADGEQR GQRSMSVAAG CWGRAMTGRL EPGAAAGPK 1349
    Length:1,349
    Mass (Da):148,933
    Last modified:June 1, 2001 - v1
    Checksum:iE9EB51FBF8E708F1
    GO
    Isoform 2 (identifier: Q9BZ72-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         802-802: A → VETVQRNPELVLEGGPLAPLPHGDGFLETSMPVPAPTWQDGPRPGCAES
         857-911: KAPDALSHTPSVRRLSLLALPAPSPTTPGPHPPARKASPGLERAPGLPELDIGEV → I

    Note: No experimental confirmation available.

    Show »
    Length:1,343
    Mass (Da):148,489
    Checksum:i6F6856F776EFAAA4
    GO
    Isoform 3 (identifier: Q9BZ72-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         50-328: Missing.

    Show »
    Length:1,070
    Mass (Da):116,586
    Checksum:iA211E0D36B26FF1E
    GO

    Sequence cautioni

    The sequence BAA95981.2 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti9 – 91P → L.
    Corresponds to variant rs17884869 [ dbSNP | Ensembl ].
    VAR_053584
    Natural varianti661 – 6611L → M.
    Corresponds to variant rs55813219 [ dbSNP | Ensembl ].
    VAR_062131

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei50 – 328279Missing in isoform 3. CuratedVSP_017961Add
    BLAST
    Alternative sequencei802 – 8021A → VETVQRNPELVLEGGPLAPL PHGDGFLETSMPVPAPTWQD GPRPGCAES in isoform 2. 1 PublicationVSP_017962
    Alternative sequencei857 – 91155KAPDA…DIGEV → I in isoform 2. 1 PublicationVSP_017963Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF334585 mRNA. Translation: AAK01445.1.
    AB040890 mRNA. Translation: BAA95981.2. Different initiation.
    CCDSiCCDS9242.1. [Q9BZ72-1]
    RefSeqiNP_065896.1. NM_020845.2. [Q9BZ72-1]
    XP_005253642.1. XM_005253585.1. [Q9BZ72-2]
    UniGeneiHs.272759.

    Genome annotation databases

    EnsembliENST00000280562; ENSP00000280562; ENSG00000090975. [Q9BZ72-2]
    ENST00000320201; ENSP00000322218; ENSG00000090975. [Q9BZ72-1]
    ENST00000542749; ENSP00000437611; ENSG00000090975. [Q9BZ72-1]
    GeneIDi57605.
    KEGGihsa:57605.
    UCSCiuc001uej.1. human. [Q9BZ72-1]
    uc001uek.1. human. [Q9BZ72-2]

    Polymorphism databases

    DMDMi74717733.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF334585 mRNA. Translation: AAK01445.1 .
    AB040890 mRNA. Translation: BAA95981.2 . Different initiation.
    CCDSi CCDS9242.1. [Q9BZ72-1 ]
    RefSeqi NP_065896.1. NM_020845.2. [Q9BZ72-1 ]
    XP_005253642.1. XM_005253585.1. [Q9BZ72-2 ]
    UniGenei Hs.272759.

    3D structure databases

    ProteinModelPortali Q9BZ72.
    SMRi Q9BZ72. Positions 1-250.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121653. 1 interaction.
    IntActi Q9BZ72. 1 interaction.
    STRINGi 9606.ENSP00000322218.

    PTM databases

    PhosphoSitei Q9BZ72.

    Polymorphism databases

    DMDMi 74717733.

    Proteomic databases

    MaxQBi Q9BZ72.
    PaxDbi Q9BZ72.
    PRIDEi Q9BZ72.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000280562 ; ENSP00000280562 ; ENSG00000090975 . [Q9BZ72-2 ]
    ENST00000320201 ; ENSP00000322218 ; ENSG00000090975 . [Q9BZ72-1 ]
    ENST00000542749 ; ENSP00000437611 ; ENSG00000090975 . [Q9BZ72-1 ]
    GeneIDi 57605.
    KEGGi hsa:57605.
    UCSCi uc001uej.1. human. [Q9BZ72-1 ]
    uc001uek.1. human. [Q9BZ72-2 ]

    Organism-specific databases

    CTDi 57605.
    GeneCardsi GC12M123468.
    H-InvDB HIX0011103.
    HGNCi HGNC:21044. PITPNM2.
    HPAi HPA003414.
    HPA003978.
    MIMi 608920. gene.
    neXtProti NX_Q9BZ72.
    PharmGKBi PA134963002.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5083.
    HOGENOMi HOG000294231.
    HOVERGENi HBG052733.
    InParanoidi Q9BZ72.
    OMAi IPRYQRY.
    OrthoDBi EOG7NW69J.
    PhylomeDBi Q9BZ72.
    TreeFami TF312967.

    Miscellaneous databases

    ChiTaRSi PITPNM2. human.
    GenomeRNAii 57605.
    NextBioi 64231.
    PROi Q9BZ72.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BZ72.
    Bgeei Q9BZ72.
    CleanExi HS_PITPNM2.
    Genevestigatori Q9BZ72.

    Family and domain databases

    Gene3Di 3.30.530.20. 1 hit.
    3.40.50.1000. 1 hit.
    InterProi IPR004177. DDHD.
    IPR023214. HAD-like_dom.
    IPR013209. LNS2.
    IPR001666. PI_transfer.
    IPR023393. START-like_dom.
    [Graphical view ]
    PANTHERi PTHR10658. PTHR10658. 1 hit.
    Pfami PF02862. DDHD. 1 hit.
    PF02121. IP_trans. 1 hit.
    PF08235. LNS2. 1 hit.
    [Graphical view ]
    PRINTSi PR00391. PITRANSFER.
    SMARTi SM00775. LNS2. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56784. SSF56784. 1 hit.
    PROSITEi PS51043. DDHD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of a novel family of targets of PYK2 related to Drosophila retinal degeneration B (rdgB) protein."
      Lev S., Hernandez J., Martinez R., Chen A., Plowman G., Schlessinger J.
      Mol. Cell. Biol. 19:2278-2288(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, ALTERNATIVE SPLICING (ISOFORMS 1 AND 3), INTERACTION WITH PTK2B, CALCIUM-BINDING, TISSUE SPECIFICITY.
      Tissue: Brain and Heart.
    2. "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
      DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    3. "Systematic validation of antibody binding and protein subcellular localization using siRNA and confocal microscopy."
      Stadler C., Hjelmare M., Neumann B., Jonasson K., Pepperkok R., Uhlen M., Lundberg E.
      J. Proteomics 75:2236-2251(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiPITM2_HUMAN
    AccessioniPrimary (citable) accession number: Q9BZ72
    Secondary accession number(s): Q9P271
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 18, 2006
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 90 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: 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