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O00562

- PITM1_HUMAN

UniProt

O00562 - PITM1_HUMAN

Protein

Membrane-associated phosphatidylinositol transfer protein 1

Gene

PITPNM1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 4 (31 Oct 2006)
      Previous versions | rss
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    Functioni

    Regulates RHOA activity, and plays a role in cytoskeleton remodeling. Necessary for normal completion of cytokinesis. Plays a role in maintaining normal diacylglycerol levels in the Golgi apparatus. Binds phosphatidyl inositol phosphates (in vitro). May catalyze the transfer of phosphatidylinositol and phosphatidylcholine between membranes By similarity. Necessary for maintaining the normal structure of the endoplasmic reticulum and the Golgi apparatus. Required for protein export from the endoplasmic reticulum and the Golgi. Binds calcium ions.By similarity4 Publications

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW
    2. phosphatidylinositol transporter activity Source: ProtInc

    GO - Biological processi

    1. brain development Source: ProtInc
    2. lipid metabolic process Source: ProtInc
    3. phospholipid transport Source: GOC
    4. phototransduction Source: ProtInc
    5. protein transport Source: UniProtKB-KW

    Keywords - Biological processi

    Protein transport, Transport

    Keywords - Ligandi

    Calcium, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Membrane-associated phosphatidylinositol transfer protein 1
    Alternative name(s):
    Drosophila retinal degeneration B homolog
    Phosphatidylinositol transfer protein, membrane-associated 1
    Short name:
    PITPnm 1
    Pyk2 N-terminal domain-interacting receptor 2
    Short name:
    NIR-2
    Gene namesi
    Name:PITPNM1
    Synonyms:DRES9, NIR2, PITPNM
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:9003. PITPNM1.

    Subcellular locationi

    Cytoplasm. Golgi apparatusGolgi stack membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Peripheral membrane protein. Lipid droplet. Cleavage furrow. Midbody
    Note: Peripheral membrane protein associated with Golgi stacks in interphase cells. A minor proportion is associated with the endoplasmic reticulum. Associated with lipid droplets. Dissociates from the Golgi early on in mitosis and localizes to the cleavage furrow and midbody during cytokinesis.

    GO - Cellular componenti

    1. cleavage furrow Source: UniProtKB-SubCell
    2. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    3. Golgi cisterna membrane Source: UniProtKB-SubCell
    4. lipid particle Source: UniProtKB-SubCell
    5. membrane Source: ProtInc
    6. midbody Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Endoplasmic reticulum, Golgi apparatus, Lipid droplet, Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi59 – 591T → A: Prevents association with lipid droplets. 2 Publications
    Mutagenesisi59 – 591T → E: Causes association with lipid droplets. 2 Publications
    Mutagenesisi287 – 2871T → A: Slightly reduced phosphorylation. Strongly reduced phosphorylation; when associated with A-794 or A-389. Loss of threonine phosphorylation; when associated with A-389; A-793 and A-1222. 2 Publications
    Mutagenesisi300 – 3001S → A: No effect on phosphorylation. 2 Publications
    Mutagenesisi326 – 3261S → A: No effect on phosphorylation. 2 Publications
    Mutagenesisi349 – 3535EFFDA → ALLAG: Loss of interaction with VAPB. 1 Publication
    Mutagenesisi382 – 3821S → A: Strongly reduced phosphorylation. 2 Publications
    Mutagenesisi389 – 3891T → A: No detectable effect on phosphorylation; when associated with A-793 and A-1222. Strongly reduced phosphorylation; when associated with A-287. Loss of threonine phosphorylation; when associated with A-287; A-794 and A-1222. 2 Publications
    Mutagenesisi794 – 7941T → A: No detectable effect on phosphorylation; when associated with A-389 and A-1222. Strongly reduced phosphorylation; when associated with A-287. Loss of threonine phosphorylation; when associated with A-287; A-389 and A-1222. 2 Publications
    Mutagenesisi896 – 8961S → A: Reduced phosphorylation. 2 Publications
    Mutagenesisi1223 – 12231T → A: No detectable effect on phosphorylation; when associated with A-389 and A-793. Loss of threonine phosphorylation; when associated with A-287; A-389 and A-794. 2 Publications

    Organism-specific databases

    PharmGKBiPA33337.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12441244Membrane-associated phosphatidylinositol transfer protein 1PRO_0000232738Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei59 – 591Phosphothreonine2 Publications
    Modified residuei287 – 2871Phosphothreonine; by CDK12 Publications
    Modified residuei382 – 3821Phosphoserine; by CDK12 Publications
    Modified residuei896 – 8961Phosphoserine2 Publications

    Post-translational modificationi

    Phosphorylated on multiple sites by CDK1 at the onset of mitosis. Phosphorylation facilitates dissociation from the Golgi complex and is required for interaction with PLK1.
    Phosphorylated on threonine residues upon treatment with oleic acid.
    Phosphorylated on tyrosine residues by PTK2B.

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiO00562.
    PaxDbiO00562.
    PRIDEiO00562.

    PTM databases

    PhosphoSiteiO00562.

    Expressioni

    Tissue specificityi

    Ubiquitous.1 Publication

    Gene expression databases

    ArrayExpressiO00562.
    BgeeiO00562.
    CleanExiHS_PITPNM1.
    GenevestigatoriO00562.

    Organism-specific databases

    HPAiHPA060227.

    Interactioni

    Subunit structurei

    Interacts with PIK4CA By similarity. Interacts with PTK2B via its C-terminus. Interacts with RHOA. Has higher affinity for the inactive, GDP-bound form of RHOA. The CDK1-phosphorylated form interacts with PLK1. Interacts with VAPB.By similarity4 Publications

    Protein-protein interaction databases

    BioGridi114965. 1 interaction.
    IntActiO00562. 2 interactions.
    STRINGi9606.ENSP00000348772.

    Structurei

    3D structure databases

    ProteinModelPortaliO00562.
    SMRiO00562. Positions 1-254.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini686 – 880195DDHDPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi310 – 31910Poly-Ser

    Sequence similaritiesi

    Contains 1 DDHD domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG5083.
    HOGENOMiHOG000294231.
    HOVERGENiHBG052733.
    InParanoidiO00562.
    OMAiMQNIARD.
    OrthoDBiEOG7NW69J.
    PhylomeDBiO00562.
    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 (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O00562-1) [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

    MLIKEYHILL PMSLDEYQVA QLYMIQKKSR EESSGEGSGV EILANRPYTD     50
    GPGGSGQYTH KVYHVGSHIP GWFRALLPKA ALQVEEESWN AYPYTRTRYT 100
    CPFVEKFSIE IETYYLPDGG QQPNVFNLSG AERRQRILDT IDIVRDAVAP 150
    GEYKAEEDPR LYHSVKTGRG PLSDDWARTA AQTGPLMCAY KLCKVEFRYW 200
    GMQAKIEQFI HDVGLRRVML RAHRQAWCWQ DEWTELSMAD IRALEEETAR 250
    MLAQRMAKCN TGSEGSEAQP PGKPSTEARS AASNTGTPDG PEAPPGPDAS 300
    PDASFGKQWS SSSRSSYSSQ HGGAVSPQSL SEWRMQNIAR DSENSSEEEF 350
    FDAHEGFSDS EEVFPKEMTK WNSNDFIDAF ASPVEAEGTP EPGAEAAKGI 400
    EDGAQAPRDS EGLDGAGELG AEACAVHALF LILHSGNILD SGPGDANSKQ 450
    ADVQTLSSAF EAVTRIHFPE ALGHVALRLV PCPPICAAAY ALVSNLSPYS 500
    HDGDSLSRSQ DHIPLAALPL LATSSSRYQG AVATVIARTN QAYSAFLRSP 550
    EGAGFCGQVA LIGDGVGGIL GFDALCHSAN AGTGSRGSSR RGSMNNELLS 600
    PEFGPVRDPL ADGVEGLGRG SPEPSALPPQ RIPSDMASPE PEGSQNSLQA 650
    APATTSSWEP RRASTAFCPP AASSEAPDGP SSTARLDFKV SGFFLFGSPL 700
    GLVLALRKTV MPALEAAQMR PACEQIYNLF HAADPCASRL EPLLAPKFQA 750
    IAPLTVPRYQ KFPLGDGSSL LLADTLQTHS SLFLEELEML VPSTPTSTSG 800
    AFWKGSELAT DPPAQPAAPS TTSEVVKILE RWWGTKRIDY SLYCPEALTA 850
    FPTVTLPHLF HASYWESADV VAFILRQVIE KERPQLAECE EPSIYSPAFP 900
    REKWQRKRTQ VKIRNVTSNH RASDTVVCEG RPQVLSGRFM YGPLDVVTLT 950
    GEKVDVYIMT QPLSGKWIHF GTEVTNSSGR LTFPVPPERA LGIGVYPVRM 1000
    VVRGDHTYAE CCLTVVARGT EAVVFSIDGS FTASVSIMGS DPKVRAGAVD 1050
    VVRHWQDSGY LIVYVTGRPD MQKHRVVAWL SQHNFPHGVV SFCDGLTHDP 1100
    LRQKAMFLQS LVQEVELNIV AGYGSPKDVA VYAALGLSPS QTYIVGRAVR 1150
    KLQAQCQFLS DGYVAHLGQL EAGSHSHASS GPPRAALGKS SYGVAAPVDF 1200
    LRKQSQLLRS RGPSQAEREG PGTPPTTLAR GKARSISLKL DSEE 1244
    Length:1,244
    Mass (Da):134,848
    Last modified:October 31, 2006 - v4
    Checksum:iF4B66E98B085E9C0
    GO
    Isoform 2 (identifier: O00562-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         716-716: Missing.

    Show »
    Length:1,243
    Mass (Da):134,777
    Checksum:i6262539C57A79DA6
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti931 – 9311R → P in AAK01444. (PubMed:10022914)Curated
    Sequence conflicti1034 – 10341S → G in AAR06909. (PubMed:15627748)Curated
    Sequence conflicti1116 – 11161E → G in CAA67224. (PubMed:9680295)Curated
    Sequence conflicti1133 – 11331A → T in CAA67224. (PubMed:9680295)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei716 – 7161Missing in isoform 2. 2 PublicationsVSP_021157

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X98654 mRNA. Translation: CAA67224.1.
    AF334584 mRNA. Translation: AAK01444.1.
    AY429102 mRNA. Translation: AAR06909.1.
    AP001184 Genomic DNA. No translation available.
    CH471076 Genomic DNA. Translation: EAW74638.1.
    BC022230 mRNA. Translation: AAH22230.1.
    CCDSiCCDS31620.1. [O00562-1]
    CCDS44659.1. [O00562-2]
    RefSeqiNP_001124320.1. NM_001130848.1. [O00562-2]
    NP_004901.2. NM_004910.2. [O00562-1]
    UniGeneiHs.372295.

    Genome annotation databases

    EnsembliENST00000356404; ENSP00000348772; ENSG00000110697. [O00562-1]
    ENST00000436757; ENSP00000398787; ENSG00000110697. [O00562-2]
    ENST00000534749; ENSP00000437286; ENSG00000110697. [O00562-1]
    GeneIDi9600.
    KEGGihsa:9600.
    UCSCiuc001olx.3. human. [O00562-1]
    uc001olz.3. human. [O00562-2]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X98654 mRNA. Translation: CAA67224.1 .
    AF334584 mRNA. Translation: AAK01444.1 .
    AY429102 mRNA. Translation: AAR06909.1 .
    AP001184 Genomic DNA. No translation available.
    CH471076 Genomic DNA. Translation: EAW74638.1 .
    BC022230 mRNA. Translation: AAH22230.1 .
    CCDSi CCDS31620.1. [O00562-1 ]
    CCDS44659.1. [O00562-2 ]
    RefSeqi NP_001124320.1. NM_001130848.1. [O00562-2 ]
    NP_004901.2. NM_004910.2. [O00562-1 ]
    UniGenei Hs.372295.

    3D structure databases

    ProteinModelPortali O00562.
    SMRi O00562. Positions 1-254.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114965. 1 interaction.
    IntActi O00562. 2 interactions.
    STRINGi 9606.ENSP00000348772.

    Chemistry

    ChEMBLi CHEMBL1764937.

    PTM databases

    PhosphoSitei O00562.

    Proteomic databases

    MaxQBi O00562.
    PaxDbi O00562.
    PRIDEi O00562.

    Protocols and materials databases

    DNASUi 9600.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000356404 ; ENSP00000348772 ; ENSG00000110697 . [O00562-1 ]
    ENST00000436757 ; ENSP00000398787 ; ENSG00000110697 . [O00562-2 ]
    ENST00000534749 ; ENSP00000437286 ; ENSG00000110697 . [O00562-1 ]
    GeneIDi 9600.
    KEGGi hsa:9600.
    UCSCi uc001olx.3. human. [O00562-1 ]
    uc001olz.3. human. [O00562-2 ]

    Organism-specific databases

    CTDi 9600.
    GeneCardsi GC11M067260.
    HGNCi HGNC:9003. PITPNM1.
    HPAi HPA060227.
    MIMi 608794. gene.
    neXtProti NX_O00562.
    PharmGKBi PA33337.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5083.
    HOGENOMi HOG000294231.
    HOVERGENi HBG052733.
    InParanoidi O00562.
    OMAi MQNIARD.
    OrthoDBi EOG7NW69J.
    PhylomeDBi O00562.
    TreeFami TF312967.

    Miscellaneous databases

    ChiTaRSi PITPNM1. human.
    GeneWikii PITPNM1.
    GenomeRNAii 9600.
    NextBioi 36015.
    PROi O00562.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O00562.
    Bgeei O00562.
    CleanExi HS_PITPNM1.
    Genevestigatori O00562.

    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. "A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms."
      Rubboli F., Bulfone A., Bogni S., Marchitiello A., Zollo M., Borsani G., Ballabio A., Banfi S.
      Genes Funct. 1:205-213(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "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, CALCIUM-BINDING, INTERACTION WITH PTK2B, PHOSPHORYLATION, TISSUE SPECIFICITY.
      Tissue: Brain.
    3. "Chromosomal localization, genomic organization and evolution of the genes encoding human phosphatidylinositol transfer protein membrane-associated (PITPNM) 1, 2 and 3."
      Ocaka L., Spalluto C., Wilson D.I., Hunt D.M., Halford S.
      Cytogenet. Genome Res. 108:293-302(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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).
      Tissue: Duodenum.
    7. "Targeting of Nir2 to lipid droplets is regulated by a specific threonine residue within its PI-transfer domain."
      Litvak V., Shaul Y.D., Shulewitz M., Amarilio R., Carmon S., Lev S.
      Curr. Biol. 12:1513-1518(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF THR-59, PHOSPHORYLATION AT THR-59.
    8. Cited for: FUNCTION, INTERACTION WITH RHOA.
    9. "Mitotic phosphorylation of the peripheral Golgi protein Nir2 by Cdk1 provides a docking mechanism for Plk1 and affects cytokinesis completion."
      Litvak V., Argov R., Dahan N., Ramachandran S., Amarilio R., Shainskaya A., Lev S.
      Mol. Cell 14:319-330(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION AT THR-287; SER-382 AND SER-896, IDENTIFICATION BY MASS SPECTROMETRY, MUTAGENESIS OF THR-287; SER-300; SER-326; SER-382; THR-389; THR-794; SER-896 AND THR-1223, INTERACTION WITH CDK1 AND PLK1, SUBCELLULAR LOCATION.
    10. "Differential regulation of endoplasmic reticulum structure through VAP-Nir protein interaction."
      Amarilio R., Ramachandran S., Sabanay H., Lev S.
      J. Biol. Chem. 280:5934-5944(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH VAPB, MUTAGENESIS OF 349-GLU--ALA-353.
    11. "Maintenance of the diacylglycerol level in the Golgi apparatus by the Nir2 protein is critical for Golgi secretory function."
      Litvak V., Dahan N., Ramachandran S., Sabanay H., Lev S.
      Nat. Cell Biol. 7:225-234(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.

    Entry informationi

    Entry nameiPITM1_HUMAN
    AccessioniPrimary (citable) accession number: O00562
    Secondary accession number(s): A6NME4
    , Q6T7X3, Q8TBN3, Q9BZ73
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 18, 2006
    Last sequence update: October 31, 2006
    Last modified: October 1, 2014
    This is version 110 of the entry and version 4 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 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3