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Q9BZ72

- PITM2_HUMAN

UniProt

Q9BZ72 - PITM2_HUMAN

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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

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 1 Publication; Peripheral membrane protein 1 Publication

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB
  2. 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

BgeeiQ9BZ72.
CleanExiHS_PITPNM2.
ExpressionAtlasiQ9BZ72. baseline and differential.
GenevestigatoriQ9BZ72.

Organism-specific databases

HPAiHPA003414.
HPA003978.

Interactioni

Subunit structurei

Interacts with PTK2B via its C-terminus.1 Publication

Protein-protein interaction databases

BioGridi121653. 2 interactions.
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.
GeneTreeiENSGT00760000119216.
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

        10         20         30         40         50
MIIKEYRIPL PMTVEEYRIA QLYMIQKKSR NETYGEGSGV EILENRPYTD
60 70 80 90 100
GPGGSGQYTH KVYHVGMHIP SWFRSILPKA ALRVVEESWN AYPYTRTRFT
110 120 130 140 150
CPFVEKFSID IETFYKTDAG ENPDVFNLSP VEKNQLTIDF IDIVKDPVPH
160 170 180 190 200
NEYKTEEDPK LFQSTKTQRG PLSENWIEEY KKQVFPIMCA YKLCKVEFRY
210 220 230 240 250
WGMQSKIERF IHDTGLRRVM VRAHRQAWCW QDEWYGLSME NIRELEKEAQ
260 270 280 290 300
LMLSRKMAQF NEDGEEATEL VKHEAVSDQT SGEPPEPSSS NGEPLVGRGL
310 320 330 340 350
KKQWSTSSKS SRSSKRGASP SRHSISEWRM QSIARDSDES SDDEFFDAHE
360 370 380 390 400
DLSDTEEMFP KDITKWSSND LMDKIESPEP EDTQDGLYRQ GAPEFRVASS
410 420 430 440 450
VEQLNIIEDE VSQPLAAPPS KIHVLLLVLH GGTILDTGAG DPSSKKGDAN
460 470 480 490 500
TIANVFDTVM RVHYPSALGR LAIRLVPCPP VCSDAFALVS NLSPYSHDEG
510 520 530 540 550
CLSSSQDHIP LAALPLLATS SPQYQEAVAT VIQRANLAYG DFIKSQEGMT
560 570 580 590 600
FNGQVCLIGD CVGGILAFDA LCYSNQPVSE SQSSSRRGSV VSMQDNDLLS
610 620 630 640 650
PGILMNAAHC CGGGGGGGGG GGSSGGGGSS GGSSLESSRH LSRSNVDIPR
660 670 680 690 700
SNGTEDPKRQ LPRKRSDSST YELDTIQQHQ AFLSSLHASV LRTEPCSRHS
710 720 730 740 750
SSSTMLDGTG ALGRFDFEIT DLFLFGCPLG LVLALRKTVI PALDVFQLRP
760 770 780 790 800
ACQQVYNLFH PADPSASRLE PLLERRFHAL PPFSVPRYQR YPLGDGCSTL
810 820 830 840 850
LADVLQTHNA AFQEHGAPSS PGTAPASRGF RRASEISIAS QVSGMAESYT
860 870 880 890 900
ASSIAQKAPD ALSHTPSVRR LSLLALPAPS PTTPGPHPPA RKASPGLERA
910 920 930 940 950
PGLPELDIGE VAAKWWGQKR IDYALYCPDA LTAFPTVALP HLFHASYWES
960 970 980 990 1000
TDVVSFLLRQ VMRHDNSSIL ELDGKEVSVF TPSKPREKWQ RKRTHVKLRN
1010 1020 1030 1040 1050
VTANHRINDA LANEDGPQVL TGRFMYGPLD MVTLTGEKVD VHIMTQPPSG
1060 1070 1080 1090 1100
EWLYLDTLVT NNSGRVSYTI PESHRLGVGV YPIKMVVRGD HTFADSYITV
1110 1120 1130 1140 1150
LPKGTEFVVF SIDGSFAASV SIMGSDPKVR AGAVDVVRHW QDLGYLIIYV
1160 1170 1180 1190 1200
TGRPDMQKQR VVAWLAQHNF PHGVVSFCDG LVHDPLRHKA NFLKLLISEL
1210 1220 1230 1240 1250
HLRVHAAYGS TKDVAVYSAI SLSPMQIYIV GRPTKKLQQQ CQFITDGYAA
1260 1270 1280 1290 1300
HLAQLKYSHR ARPARNTATR MALRKGSFGL PGQGDFLRSR NHLLRTISAQ
1310 1320 1330 1340
PSGPSHRHER TQSQADGEQR GQRSMSVAAG CWGRAMTGRL EPGAAAGPK
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.
CCDSiCCDS73543.1. [Q9BZ72-2]
CCDS9242.1. [Q9BZ72-1]
RefSeqiNP_065896.1. NM_020845.2. [Q9BZ72-1]
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 CCDS73543.1. [Q9BZ72-2 ]
CCDS9242.1. [Q9BZ72-1 ]
RefSeqi NP_065896.1. NM_020845.2. [Q9BZ72-1 ]
UniGenei Hs.272759.

3D structure databases

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

Protein-protein interaction databases

BioGridi 121653. 2 interactions.
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.
GeneTreei ENSGT00760000119216.
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

Bgeei Q9BZ72.
CleanExi HS_PITPNM2.
ExpressionAtlasi Q9BZ72. baseline and differential.
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: October 29, 2014
This is version 91 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