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Q9BZ72 (PITM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:PITPNM2
Synonyms:KIAA1457, NIR3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1349 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Interacts with PTK2B via its C-terminus. Ref.1

Subcellular location

Endomembrane system; Peripheral membrane protein Ref.3.

Tissue specificity

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

Sequence similarities

Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily.

Contains 1 DDHD domain.

Sequence caution

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

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BZ72-1)

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.
Isoform 2 (identifier: Q9BZ72-2)

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.
Isoform 3 (identifier: Q9BZ72-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13491349Membrane-associated phosphatidylinositol transfer protein 2
PRO_0000232741

Regions

Domain715 – 963249DDHD
Compositional bias612 – 63221Gly-rich

Natural variations

Alternative sequence50 – 328279Missing in isoform 3.
VSP_017961
Alternative sequence8021A → VETVQRNPELVLEGGPLAPL PHGDGFLETSMPVPAPTWQD GPRPGCAES in isoform 2.
VSP_017962
Alternative sequence857 – 91155KAPDA…DIGEV → I in isoform 2.
VSP_017963
Natural variant91P → L.
Corresponds to variant rs17884869 [ dbSNP | Ensembl ].
VAR_053584
Natural variant6611L → M.
Corresponds to variant rs55813219 [ dbSNP | Ensembl ].
VAR_062131

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: E9EB51FBF8E708F1

FASTA1,349148,933
        10         20         30         40         50         60 
MIIKEYRIPL PMTVEEYRIA QLYMIQKKSR NETYGEGSGV EILENRPYTD GPGGSGQYTH 

        70         80         90        100        110        120 
KVYHVGMHIP SWFRSILPKA ALRVVEESWN AYPYTRTRFT CPFVEKFSID IETFYKTDAG 

       130        140        150        160        170        180 
ENPDVFNLSP VEKNQLTIDF IDIVKDPVPH NEYKTEEDPK LFQSTKTQRG PLSENWIEEY 

       190        200        210        220        230        240 
KKQVFPIMCA YKLCKVEFRY WGMQSKIERF IHDTGLRRVM VRAHRQAWCW QDEWYGLSME 

       250        260        270        280        290        300 
NIRELEKEAQ LMLSRKMAQF NEDGEEATEL VKHEAVSDQT SGEPPEPSSS NGEPLVGRGL 

       310        320        330        340        350        360 
KKQWSTSSKS SRSSKRGASP SRHSISEWRM QSIARDSDES SDDEFFDAHE DLSDTEEMFP 

       370        380        390        400        410        420 
KDITKWSSND LMDKIESPEP EDTQDGLYRQ GAPEFRVASS VEQLNIIEDE VSQPLAAPPS 

       430        440        450        460        470        480 
KIHVLLLVLH GGTILDTGAG DPSSKKGDAN TIANVFDTVM RVHYPSALGR LAIRLVPCPP 

       490        500        510        520        530        540 
VCSDAFALVS NLSPYSHDEG CLSSSQDHIP LAALPLLATS SPQYQEAVAT VIQRANLAYG 

       550        560        570        580        590        600 
DFIKSQEGMT FNGQVCLIGD CVGGILAFDA LCYSNQPVSE SQSSSRRGSV VSMQDNDLLS 

       610        620        630        640        650        660 
PGILMNAAHC CGGGGGGGGG GGSSGGGGSS GGSSLESSRH LSRSNVDIPR SNGTEDPKRQ 

       670        680        690        700        710        720 
LPRKRSDSST YELDTIQQHQ AFLSSLHASV LRTEPCSRHS SSSTMLDGTG ALGRFDFEIT 

       730        740        750        760        770        780 
DLFLFGCPLG LVLALRKTVI PALDVFQLRP ACQQVYNLFH PADPSASRLE PLLERRFHAL 

       790        800        810        820        830        840 
PPFSVPRYQR YPLGDGCSTL LADVLQTHNA AFQEHGAPSS PGTAPASRGF RRASEISIAS 

       850        860        870        880        890        900 
QVSGMAESYT ASSIAQKAPD ALSHTPSVRR LSLLALPAPS PTTPGPHPPA RKASPGLERA 

       910        920        930        940        950        960 
PGLPELDIGE VAAKWWGQKR IDYALYCPDA LTAFPTVALP HLFHASYWES TDVVSFLLRQ 

       970        980        990       1000       1010       1020 
VMRHDNSSIL ELDGKEVSVF TPSKPREKWQ RKRTHVKLRN VTANHRINDA LANEDGPQVL 

      1030       1040       1050       1060       1070       1080 
TGRFMYGPLD MVTLTGEKVD VHIMTQPPSG EWLYLDTLVT NNSGRVSYTI PESHRLGVGV 

      1090       1100       1110       1120       1130       1140 
YPIKMVVRGD HTFADSYITV LPKGTEFVVF SIDGSFAASV SIMGSDPKVR AGAVDVVRHW 

      1150       1160       1170       1180       1190       1200 
QDLGYLIIYV TGRPDMQKQR VVAWLAQHNF PHGVVSFCDG LVHDPLRHKA NFLKLLISEL 

      1210       1220       1230       1240       1250       1260 
HLRVHAAYGS TKDVAVYSAI SLSPMQIYIV GRPTKKLQQQ CQFITDGYAA HLAQLKYSHR 

      1270       1280       1290       1300       1310       1320 
ARPARNTATR MALRKGSFGL PGQGDFLRSR NHLLRTISAQ PSGPSHRHER TQSQADGEQR 

      1330       1340 
GQRSMSVAAG CWGRAMTGRL EPGAAAGPK 

« Hide

Isoform 2 [UniParc].

Checksum: 6F6856F776EFAAA4
Show »

FASTA1,343148,489
Isoform 3 [UniParc].

Checksum: A211E0D36B26FF1E
Show »

FASTA1,070116,586

References

« Hide 'large scale' references
[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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF334585 mRNA. Translation: AAK01445.1.
AB040890 mRNA. Translation: BAA95981.2. Different initiation.
CCDSCCDS9242.1. [Q9BZ72-1]
RefSeqNP_065896.1. NM_020845.2. [Q9BZ72-1]
XP_005253642.1. XM_005253585.1. [Q9BZ72-2]
UniGeneHs.272759.

3D structure databases

ProteinModelPortalQ9BZ72.
SMRQ9BZ72. Positions 1-250.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121653. 1 interaction.
IntActQ9BZ72. 1 interaction.
STRING9606.ENSP00000322218.

PTM databases

PhosphoSiteQ9BZ72.

Polymorphism databases

DMDM74717733.

Proteomic databases

MaxQBQ9BZ72.
PaxDbQ9BZ72.
PRIDEQ9BZ72.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000280562; ENSP00000280562; ENSG00000090975. [Q9BZ72-2]
ENST00000320201; ENSP00000322218; ENSG00000090975. [Q9BZ72-1]
ENST00000542749; ENSP00000437611; ENSG00000090975. [Q9BZ72-1]
GeneID57605.
KEGGhsa:57605.
UCSCuc001uej.1. human. [Q9BZ72-1]
uc001uek.1. human. [Q9BZ72-2]

Organism-specific databases

CTD57605.
GeneCardsGC12M123468.
H-InvDBHIX0011103.
HGNCHGNC:21044. PITPNM2.
HPAHPA003414.
HPA003978.
MIM608920. gene.
neXtProtNX_Q9BZ72.
PharmGKBPA134963002.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5083.
HOGENOMHOG000294231.
HOVERGENHBG052733.
InParanoidQ9BZ72.
OMAIPRYQRY.
OrthoDBEOG7NW69J.
PhylomeDBQ9BZ72.
TreeFamTF312967.

Gene expression databases

ArrayExpressQ9BZ72.
BgeeQ9BZ72.
CleanExHS_PITPNM2.
GenevestigatorQ9BZ72.

Family and domain databases

Gene3D3.30.530.20. 1 hit.
3.40.50.1000. 1 hit.
InterProIPR004177. DDHD.
IPR023214. HAD-like_dom.
IPR013209. LNS2.
IPR001666. PI_transfer.
IPR023393. START-like_dom.
[Graphical view]
PANTHERPTHR10658. PTHR10658. 1 hit.
PfamPF02862. DDHD. 1 hit.
PF02121. IP_trans. 1 hit.
PF08235. LNS2. 1 hit.
[Graphical view]
PRINTSPR00391. PITRANSFER.
SMARTSM00775. LNS2. 1 hit.
[Graphical view]
SUPFAMSSF56784. SSF56784. 1 hit.
PROSITEPS51043. DDHD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPITPNM2. human.
GenomeRNAi57605.
NextBio64231.
PROQ9BZ72.
SOURCESearch...

Entry information

Entry namePITM2_HUMAN
AccessionPrimary (citable) accession number: Q9BZ72
Secondary accession number(s): Q9P271
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM