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Protein

Membrane-associated phosphatidylinositol transfer protein 2

Gene

PITPNM2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • calcium ion binding Source: UniProtKB
  • lipid binding Source: UniProtKB-KW
  • phosphatidylinositol transporter activity Source: Reactome

GO - Biological processi

  • metabolic process Source: UniProtKB
  • phosphatidylinositol biosynthetic process Source: Reactome

Keywordsi

LigandCalcium, Lipid-binding, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-1483226. Synthesis of PI.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000090975.12.
HGNCiHGNC:21044. PITPNM2.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000090975.
PharmGKBiPA134963002.

Polymorphism and mutation databases

BioMutaiPITPNM2.
DMDMi74717733.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002327411 – 1349Membrane-associated phosphatidylinositol transfer protein 2Add BLAST1349

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei337PhosphoserineBy similarity1
Modified residuei341PhosphoserineBy similarity1
Modified residuei368PhosphoserineBy similarity1
Modified residuei589PhosphoserineBy similarity1
Modified residuei644PhosphoserineCombined sources1
Modified residuei700PhosphoserineBy similarity1
Modified residuei701PhosphoserineBy similarity1
Modified residuei702PhosphoserineBy similarity1
Modified residuei828Omega-N-methylarginineBy similarity1
Modified residuei1277PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ9BZ72.
MaxQBiQ9BZ72.
PaxDbiQ9BZ72.
PeptideAtlasiQ9BZ72.
PRIDEiQ9BZ72.

PTM databases

iPTMnetiQ9BZ72.
PhosphoSitePlusiQ9BZ72.

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

BgeeiENSG00000090975.
CleanExiHS_PITPNM2.
ExpressionAtlasiQ9BZ72. baseline and differential.
GenevisibleiQ9BZ72. HS.

Organism-specific databases

HPAiHPA003414.
HPA003978.

Interactioni

Subunit structurei

Interacts with PTK2B via its C-terminus (PubMed:10022914). Interacts with CPNE4 (via VWFA domain) (By similarity).By similarity1 Publication

Protein-protein interaction databases

BioGridi121653. 4 interactors.
ELMiQ9BZ72.
IntActiQ9BZ72. 3 interactors.
STRINGi9606.ENSP00000322218.

Structurei

3D structure databases

ProteinModelPortaliQ9BZ72.
SMRiQ9BZ72.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini715 – 963DDHDPROSITE-ProRule annotationAdd BLAST249

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi612 – 632Gly-richAdd BLAST21

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3668. Eukaryota.
COG5083. LUCA.
GeneTreeiENSGT00760000119216.
HOGENOMiHOG000294231.
HOVERGENiHBG052733.
InParanoidiQ9BZ72.
OMAiYTKKIYH.
OrthoDBiEOG091G0BMT.
PhylomeDBiQ9BZ72.
TreeFamiTF312967.

Family and domain databases

Gene3Di3.30.530.20. 1 hit.
3.40.50.1000. 1 hit.
InterProiView protein in InterPro
IPR004177. DDHD_dom.
IPR023214. HAD-like_dom.
IPR031315. LNS2/PITP.
IPR001666. PI_transfer.
IPR023393. START-like_dom.
PANTHERiPTHR10658. PTHR10658. 1 hit.
PfamiView protein in Pfam
PF02862. DDHD. 1 hit.
PF02121. IP_trans. 1 hit.
PRINTSiPR00391. PITRANSFER.
SMARTiView protein in SMART
SM01127. DDHD. 1 hit.
SM00775. LNS2. 1 hit.
SUPFAMiSSF56784. SSF56784. 1 hit.
PROSITEiView protein in PROSITE
PS51043. DDHD. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0535849P → L. Corresponds to variant dbSNP:rs17884869Ensembl.1
Natural variantiVAR_062131661L → M. Corresponds to variant dbSNP:rs55813219Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01796150 – 328Missing in isoform 3. CuratedAdd BLAST279
Alternative sequenceiVSP_017962802A → VETVQRNPELVLEGGPLAPL PHGDGFLETSMPVPAPTWQD GPRPGCAES in isoform 2. 1 Publication1
Alternative sequenceiVSP_017963857 – 911KAPDA…DIGEV → I in isoform 2. 1 PublicationAdd BLAST55

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF334585 mRNA. Translation: AAK01445.1.
AB040890 mRNA. Translation: BAA95981.2. Different initiation.
CCDSiCCDS73543.1. [Q9BZ72-2]
CCDS9242.1. [Q9BZ72-1]
RefSeqiNP_001287730.1. NM_001300801.1. [Q9BZ72-2]
NP_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.2. human. [Q9BZ72-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPITM2_HUMAN
AccessioniPrimary (citable) accession number: Q9BZ72
Secondary accession number(s): Q9P271
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: June 1, 2001
Last modified: September 27, 2017
This is version 115 of the entry and version 1 of the sequence. See 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