Q9BZ72 (PITM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	PITPNM2
Synonyms:	KIAA1457, NIR3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1349 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	Calcium Lipid-binding Metal-binding
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	metabolic process Non-traceable author statement Ref.1. Source: UniProtKB transport Inferred from electronic annotation. Source: InterPro
Cellular_component	endomembrane system Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Non-traceable author statement Ref.1. Source: UniProtKB intracellular membrane-bounded organelle Inferred from direct assay. Source: HPA
Molecular_function	calcium ion binding Non-traceable author statement Ref.1. Source: UniProtKB lipid binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1349	1349	Membrane-associated phosphatidylinositol transfer protein 2		PRO_0000232741
Regions
	Domain	715 – 963	249	DDHD
	Compositional bias	612 – 632	21	Gly-rich
Amino acid modifications
	Modified residue	1277	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	50 – 328	279	Missing in isoform 3.		VSP_017961
	Alternative sequence	802	1	A → VETVQRNPELVLEGGPLAPL PHGDGFLETSMPVPAPTWQD GPRPGCAES in isoform 2.		VSP_017962
	Alternative sequence	857 – 911	55	KAPDA…DIGEV → I in isoform 2.		VSP_017963
	Natural variant	9	1	P → L. Corresponds to variant rs17884869 [ dbSNP | Ensembl ].		VAR_053584
	Natural variant	661	1	L → M. Corresponds to variant rs55813219 [ dbSNP | Ensembl ].		VAR_062131

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: E9EB51FBF8E708F1	FASTA	1,349	148,933
	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
	Isoform 2 [UniParc]. Checksum: 6F6856F776EFAAA4	FASTA	1,343	148,489
	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 LVETVQRNPE LVLEGGPLAP LPHGDGFLET SMPVPAPTWQ 850 860 870 880 890 900 DGPRPGCAES DVLQTHNAAF QEHGAPSSPG TAPASRGFRR ASEISIASQV SGMAESYTAS 910 920 930 940 950 960 SIAQIAAKWW GQKRIDYALY CPDALTAFPT VALPHLFHAS YWESTDVVSF LLRQVMRHDN 970 980 990 1000 1010 1020 SSILELDGKE VSVFTPSKPR EKWQRKRTHV KLRNVTANHR INDALANEDG PQVLTGRFMY 1030 1040 1050 1060 1070 1080 GPLDMVTLTG EKVDVHIMTQ PPSGEWLYLD TLVTNNSGRV SYTIPESHRL GVGVYPIKMV 1090 1100 1110 1120 1130 1140 VRGDHTFADS YITVLPKGTE FVVFSIDGSF AASVSIMGSD PKVRAGAVDV VRHWQDLGYL 1150 1160 1170 1180 1190 1200 IIYVTGRPDM QKQRVVAWLA QHNFPHGVVS FCDGLVHDPL RHKANFLKLL ISELHLRVHA 1210 1220 1230 1240 1250 1260 AYGSTKDVAV YSAISLSPMQ IYIVGRPTKK LQQQCQFITD GYAAHLAQLK YSHRARPARN 1270 1280 1290 1300 1310 1320 TATRMALRKG SFGLPGQGDF LRSRNHLLRT ISAQPSGPSH RHERTQSQAD GEQRGQRSMS 1330 1340 VAAGCWGRAM TGRLEPGAAA GPK
	Isoform 3 [UniParc]. Checksum: A211E0D36B26FF1E	FASTA	1,070	116,586
	10 20 30 40 50 60 MIIKEYRIPL PMTVEEYRIA QLYMIQKKSR NETYGEGSGV EILENRPYTR MQSIARDSDE 70 80 90 100 110 120 SSDDEFFDAH EDLSDTEEMF PKDITKWSSN DLMDKIESPE PEDTQDGLYR QGAPEFRVAS 130 140 150 160 170 180 SVEQLNIIED EVSQPLAAPP SKIHVLLLVL HGGTILDTGA GDPSSKKGDA NTIANVFDTV 190 200 210 220 230 240 MRVHYPSALG RLAIRLVPCP PVCSDAFALV SNLSPYSHDE GCLSSSQDHI PLAALPLLAT 250 260 270 280 290 300 SSPQYQEAVA TVIQRANLAY GDFIKSQEGM TFNGQVCLIG DCVGGILAFD ALCYSNQPVS 310 320 330 340 350 360 ESQSSSRRGS VVSMQDNDLL SPGILMNAAH CCGGGGGGGG GGGSSGGGGS SGGSSLESSR 370 380 390 400 410 420 HLSRSNVDIP RSNGTEDPKR QLPRKRSDSS TYELDTIQQH QAFLSSLHAS VLRTEPCSRH 430 440 450 460 470 480 SSSSTMLDGT GALGRFDFEI TDLFLFGCPL GLVLALRKTV IPALDVFQLR PACQQVYNLF 490 500 510 520 530 540 HPADPSASRL EPLLERRFHA LPPFSVPRYQ RYPLGDGCST LLADVLQTHN AAFQEHGAPS 550 560 570 580 590 600 SPGTAPASRG FRRASEISIA SQVSGMAESY TASSIAQKAP DALSHTPSVR RLSLLALPAP 610 620 630 640 650 660 SPTTPGPHPP ARKASPGLER APGLPELDIG EVAAKWWGQK RIDYALYCPD ALTAFPTVAL 670 680 690 700 710 720 PHLFHASYWE STDVVSFLLR QVMRHDNSSI LELDGKEVSV FTPSKPREKW QRKRTHVKLR 730 740 750 760 770 780 NVTANHRIND ALANEDGPQV LTGRFMYGPL DMVTLTGEKV DVHIMTQPPS GEWLYLDTLV 790 800 810 820 830 840 TNNSGRVSYT IPESHRLGVG VYPIKMVVRG DHTFADSYIT VLPKGTEFVV FSIDGSFAAS 850 860 870 880 890 900 VSIMGSDPKV RAGAVDVVRH WQDLGYLIIY VTGRPDMQKQ RVVAWLAQHN FPHGVVSFCD 910 920 930 940 950 960 GLVHDPLRHK ANFLKLLISE LHLRVHAAYG STKDVAVYSA ISLSPMQIYI VGRPTKKLQQ 970 980 990 1000 1010 1020 QCQFITDGYA AHLAQLKYSH RARPARNTAT RMALRKGSFG LPGQGDFLRS RNHLLRTISA 1030 1040 1050 1060 1070 QPSGPSHRHE RTQSQADGEQ RGQRSMSVAA GCWGRAMTGR LEPGAAAGPK

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00097494. IPI00155134. IPI00747418.
RefSeq	NP_065896.1. NM_020845.2.
UniGene	Hs.272759.
3D structure databases
ProteinModelPortal	Q9BZ72.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BZ72. 1 interaction.
STRING	9606.ENSP00000322218.
PTM databases
PhosphoSite	Q9BZ72.
Polymorphism databases
DMDM	74717733.
Proteomic databases
PaxDb	Q9BZ72.
PRIDE	Q9BZ72.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000280562; ENSP00000280562; ENSG00000090975. ENST00000320201; ENSP00000322218; ENSG00000090975. ENST00000542749; ENSP00000437611; ENSG00000090975.
GeneID	57605.
KEGG	hsa:57605.
UCSC	uc001uej.1. human. uc001uek.1. human.
Organism-specific databases
CTD	57605.
GeneCards	GC12M123468.
H-InvDB	HIX0011103.
HGNC	HGNC:21044. PITPNM2.
HPA	HPA003414. HPA003978.
MIM	608920. gene.
neXtProt	NX_Q9BZ72.
PharmGKB	PA134963002.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5083.
HOGENOM	HOG000294231.
HOVERGEN	HBG052733.
InParanoid	Q9BZ72.
OMA	NTVFQEH.
OrthoDB	EOG479F68.
Gene expression databases
ArrayExpress	Q9BZ72.
Bgee	Q9BZ72.
CleanEx	HS_PITPNM2.
Genevestigator	Q9BZ72.
GermOnline	ENSG00000090975. Homo sapiens.
Family and domain databases
Gene3D	3.30.530.20. 1 hit. 3.40.50.1000. 1 hit.
InterPro	IPR004177. DDHD. IPR023214. HAD-like_dom. IPR013209. LNS2. IPR001666. PI_transfer. IPR023393. START-like_dom. [Graphical view]
PANTHER	PTHR10658. PTHR10658. 1 hit.
Pfam	PF02862. DDHD. 1 hit. PF02121. IP_trans. 1 hit. PF08235. LNS2. 1 hit. [Graphical view]
PRINTS	PR00391. PITRANSFER.
SMART	SM00775. LNS2. 1 hit. [Graphical view]
SUPFAM	SSF56784. HAD-like_dom. 1 hit.
PROSITE	PS51043. DDHD. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	PITPNM2. human.
GenomeRNAi	57605.
NextBio	64231.
SOURCE	Search...

Entry information

Entry name

PITM2_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 79 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.