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Q9BZ72

- PITM2_HUMAN

UniProt

Q9BZ72 - PITM2_HUMAN

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Protein

Membrane-associated phosphatidylinositol transfer protein 2

Gene
PITPNM2, KIAA1457, NIR3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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; 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
Complete GO annotation...

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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini715 – 963249DDHDAdd
BLAST

Compositional bias

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

Sequence similaritiesi

Contains 1 DDHD domain.

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. VSP_017961Add
BLAST
Alternative sequencei802 – 8021A → VETVQRNPELVLEGGPLAPL PHGDGFLETSMPVPAPTWQD GPRPGCAES in isoform 2. VSP_017962
Alternative sequencei857 – 91155KAPDA…DIGEV → I in isoform 2. VSP_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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 89 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

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