Q9BZ71 (PITM3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Membrane-associated phosphatidylinositol transfer protein 3

Alternative name(s):
Phosphatidylinositol transfer protein, membrane-associated 3
Short name=PITPnm 3
Pyk2 N-terminal domain-interacting receptor 1
Short name=NIR-1

Gene names

Name:	PITPNM3
Synonyms:	NIR1

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	974 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) By similarity. Binds calcium ions.
Subunit structure	Interacts with PTK2B via its C-terminus. Ref.1
Subcellular location	Endomembrane system; Peripheral membrane protein Probable.
Tissue specificity	Detected in brain and spleen, and at low levels in ovary. Ref.1
Involvement in disease	Cone-rod dystrophy 5 (CORD5) [MIM:600977]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7
Sequence similarities	Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily. Contains 1 DDHD domain.
Sequence caution	The sequence BAD92367.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Cone-rod dystrophy Disease mutation
Ligand	Calcium Lipid-binding Metal-binding
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	phosphatidylinositol metabolic process Traceable author statement Ref.1. Source: UniProtKB
Cellular_component	endomembrane system Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Traceable author statement Ref.1. Source: UniProtKB intracellular Inferred from electronic annotation. Source: InterPro
Molecular_function	calcium ion binding Traceable author statement Ref.1. Source: UniProtKB lipid binding Inferred from electronic annotation. Source: UniProtKB-KW phosphatidylinositol transporter activity Traceable author statement Ref.1. Source: UniProtKB receptor tyrosine kinase binding Traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CCL18	P55774	4	EBI-2815766,EBI-711240

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BZ71-1)

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: Q9BZ71-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-409: Missing.

Note: No experimental confirmation available. May be due to an intron retention.

Isoform 3 (identifier: Q9BZ71-3)

The sequence of this isoform differs from the canonical sequence as follows:
     40-75: Missing.
     955-974: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 974	974	Membrane-associated phosphatidylinositol transfer protein 3		PRO_0000232743
Regions
	Domain	390 – 594	205	DDHD
	Compositional bias	279 – 327	49	Ser-rich
Amino acid modifications
	Modified residue	30	1	Phosphoserine Ref.6
	Modified residue	31	1	Phosphoserine Ref.6
	Modified residue	495	1	Phosphoserine By similarity
	Modified residue	928	1	Phosphoserine Ref.6
Natural variations
	Alternative sequence	1 – 409	409	Missing in isoform 2.		VSP_017965
	Alternative sequence	40 – 75	36	Missing in isoform 3.		VSP_046060
	Alternative sequence	955 – 974	20	Missing in isoform 3.		VSP_046061
	Natural variant	17	1	P → S. Corresponds to variant rs28493751 [ dbSNP | Ensembl ].		VAR_062132
	Natural variant	80	1	A → T. Ref.4 Ref.5 Corresponds to variant rs3809835 [ dbSNP | Ensembl ].		VAR_026014
	Natural variant	626	1	Q → H in CORD5. Ref.7		VAR_046787
Experimental info
	Sequence conflict	885	1	A → V in AAK01446. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 18, 2006. Version 2. Checksum: C4A653710140895E	FASTA	974	106,781
	10 20 30 40 50 60 MAKAGRAGGP PPGGGAPWHL RNVLSDSVES SDDEFFDARE EMAEGKNAIL IGMSQWNSND 70 80 90 100 110 120 LVEQIETMGK LDEHQGEGTA PCTSSILQEK QRELYRVSLR RQRFPAQGSI EIHEDSEEGC 130 140 150 160 170 180 PQRSCKTHVL LLVLHGGNIL DTGAGDPSCK AADIHTFSSV LEKVTRAHFP AALGHILIKF 190 200 210 220 230 240 VPCPAICSEA FSLVSHLNPY SHDEGCLSSS QDHVPLAALP LLAISSPQYQ DAVATVIERA 250 260 270 280 290 300 NQVYREFLKS SDGIGFSGQV CLIGDCVGGL LAFDAICYSA GPSGDSPASS SRKGSISSTQ 310 320 330 340 350 360 DTPVAVEEDC SLASSKRLSK SNIDISSGLE DEEPKRPLPR KQSDSSTYDC EAITQHHAFL 370 380 390 400 410 420 SSIHSSVLKD ESETPAAGGP QLPEVSLGRF DFDVSDFFLF GSPLGLVLAM RRTVLPGLDG 430 440 450 460 470 480 FQVRPACSQV YSFFHCADPS ASRLEPLLEP KFHLVPPVSV PRYQRFPLGD GQSLLLADAL 490 500 510 520 530 540 HTHSPLFLEG SSRDSPPLLD APASPPQASR FQRPGRRMSE GSSHSESSES SDSMAPVGAS 550 560 570 580 590 600 RITAKWWGSK RIDYALYCPD VLTAFPTVAL PHLFHASYWE STDVVAFILR QVMRYESVNI 610 620 630 640 650 660 KESARLDPAA LSPANPREKW LRKRTQVKLR NVTANHRAND VIAAEDGPQV LVGRFMYGPL 670 680 690 700 710 720 DMVALTGEKV DILVMAEPSS GRWVHLDTEI TNSSGRITYN VPRPRRLGVG VYPVKMVVRG 730 740 750 760 770 780 DQTCAMSYLT VLPRGMECVV FSIDGSFAAS VSIMGSDPKV RPGAVDVVRH WQDLGYMILY 790 800 810 820 830 840 ITGRPDMQKQ RVVSWLSQHN FPQGMIFFSD GLVHDPLRQK AIFLRNLMQE CFIKISAAYG 850 860 870 880 890 900 STKDISVYSV LGLPASQIFI VGRPTKKYQT QCQFLSEGYA AHLAALEASH RSRPKKNNSR 910 920 930 940 950 960 MILRKGSFGL HAQPEFLRKR NHLRRTMSVQ QPDPPAANPK PERAQSQPES DKDHERPLPA 970 LSWARGPPKF ESVP
	Isoform 2 [UniParc]. Checksum: 5634D1E2B539A225	FASTA	565	63,100
	10 20 30 40 50 60 MRRTVLPGLD GFQVRPACSQ VYSFFHCADP SASRLEPLLE PKFHLVPPVS VPRYQRFPLG 70 80 90 100 110 120 DGQSLLLADA LHTHSPLFLE GSSRDSPPLL DAPASPPQAS RFQRPGRRMS EGSSHSESSE 130 140 150 160 170 180 SSDSMAPVGA SRITAKWWGS KRIDYALYCP DVLTAFPTVA LPHLFHASYW ESTDVVAFIL 190 200 210 220 230 240 RQVMRYESVN IKESARLDPA ALSPANPREK WLRKRTQVKL RNVTANHRAN DVIAAEDGPQ 250 260 270 280 290 300 VLVGRFMYGP LDMVALTGEK VDILVMAEPS SGRWVHLDTE ITNSSGRITY NVPRPRRLGV 310 320 330 340 350 360 GVYPVKMVVR GDQTCAMSYL TVLPRGMECV VFSIDGSFAA SVSIMGSDPK VRPGAVDVVR 370 380 390 400 410 420 HWQDLGYMIL YITGRPDMQK QRVVSWLSQH NFPQGMIFFS DGLVHDPLRQ KAIFLRNLMQ 430 440 450 460 470 480 ECFIKISAAY GSTKDISVYS VLGLPASQIF IVGRPTKKYQ TQCQFLSEGY AAHLAALEAS 490 500 510 520 530 540 HRSRPKKNNS RMILRKGSFG LHAQPEFLRK RNHLRRTMSV QQPDPPAANP KPERAQSQPE 550 560 SDKDHERPLP ALSWARGPPK FESVP
	Isoform 3 [UniParc]. Checksum: BDE4BBA876899661	FASTA	918	100,493
	10 20 30 40 50 60 MAKAGRAGGP PPGGGAPWHL RNVLSDSVES SDDEFFDARG EGTAPCTSSI LQEKQRELYR 70 80 90 100 110 120 VSLRRQRFPA QGSIEIHEDS EEGCPQRSCK THVLLLVLHG GNILDTGAGD PSCKAADIHT 130 140 150 160 170 180 FSSVLEKVTR AHFPAALGHI LIKFVPCPAI CSEAFSLVSH LNPYSHDEGC LSSSQDHVPL 190 200 210 220 230 240 AALPLLAISS PQYQDAVATV IERANQVYRE FLKSSDGIGF SGQVCLIGDC VGGLLAFDAI 250 260 270 280 290 300 CYSAGPSGDS PASSSRKGSI SSTQDTPVAV EEDCSLASSK RLSKSNIDIS SGLEDEEPKR 310 320 330 340 350 360 PLPRKQSDSS TYDCEAITQH HAFLSSIHSS VLKDESETPA AGGPQLPEVS LGRFDFDVSD 370 380 390 400 410 420 FFLFGSPLGL VLAMRRTVLP GLDGFQVRPA CSQVYSFFHC ADPSASRLEP LLEPKFHLVP 430 440 450 460 470 480 PVSVPRYQRF PLGDGQSLLL ADALHTHSPL FLEGSSRDSP PLLDAPASPP QASRFQRPGR 490 500 510 520 530 540 RMSEGSSHSE SSESSDSMAP VGASRITAKW WGSKRIDYAL YCPDVLTAFP TVALPHLFHA 550 560 570 580 590 600 SYWESTDVVA FILRQVMRYE SVNIKESARL DPAALSPANP REKWLRKRTQ VKLRNVTANH 610 620 630 640 650 660 RANDVIAAED GPQVLVGRFM YGPLDMVALT GEKVDILVMA EPSSGRWVHL DTEITNSSGR 670 680 690 700 710 720 ITYNVPRPRR LGVGVYPVKM VVRGDQTCAM SYLTVLPRGM ECVVFSIDGS FAASVSIMGS 730 740 750 760 770 780 DPKVRPGAVD VVRHWQDLGY MILYITGRPD MQKQRVVSWL SQHNFPQGMI FFSDGLVHDP 790 800 810 820 830 840 LRQKAIFLRN LMQECFIKIS AAYGSTKDIS VYSVLGLPAS QIFIVGRPTK KYQTQCQFLS 850 860 870 880 890 900 EGYAAHLAAL EASHRSRPKK NNSRMILRKG SFGLHAQPEF LRKRNHLRRT MSVQQPDPPA 910 ANPKPERAQS QPESDKDH

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), INTERACTION WITH PTK2B, CALCIUM-BINDING, TISSUE SPECIFICITY. Tissue: Brain.
[2]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[3]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT THR-80. Tissue: Hippocampus.
[5]	The European IMAGE consortium Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 43-954 (ISOFORM 1), VARIANT THR-80.
[6]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30; SER-31 AND SER-928, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families." Koehn L., Kadzhaev K., Burstedt M.S., Haraldsson S., Hallberg B., Sandgren O., Golovleva I. Eur. J. Hum. Genet. 15:664-671(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CORD5 HIS-626.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF334586 mRNA. Translation: AAK01446.1. AB209130 mRNA. Translation: BAD92367.1. Different initiation. AC055872 Genomic DNA. No translation available. BC035799 mRNA. No translation available. BC128584 mRNA. Translation: AAI28585.1. AL389994 mRNA. Translation: CAB97544.1.
IPI	IPI00307757. IPI00748829.
RefSeq	NP_112497.2. NM_031220.3.
UniGene	Hs.183983.
3D structure databases
ProteinModelPortal	Q9BZ71.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BZ71. 3 interactions.
STRING	9606.ENSP00000262483.
PTM databases
PhosphoSite	Q9BZ71.
Polymorphism databases
DMDM	93140544.
Proteomic databases
PaxDb	Q9BZ71.
PRIDE	Q9BZ71.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000262483; ENSP00000262483; ENSG00000091622.
GeneID	83394.
KEGG	hsa:83394.
UCSC	uc002gdc.4. human. uc010clm.3. human.
Organism-specific databases
CTD	83394.
GeneCards	GC17M006357.
HGNC	HGNC:21043. PITPNM3.
MIM	600977. phenotype. 608921. gene.
neXtProt	NX_Q9BZ71.
Orphanet	1872. Cone rod dystrophy.
PharmGKB	PA134971883.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5083.
HOGENOM	HOG000294231.
HOVERGEN	HBG052733.
InParanoid	Q9BZ71.
OMA	CAMSYLT.
OrthoDB	EOG49P9XQ.
PhylomeDB	Q9BZ71.
Gene expression databases
ArrayExpress	Q9BZ71.
Bgee	Q9BZ71.
CleanEx	HS_PITPNM3.
Genevestigator	Q9BZ71.
GermOnline	ENSG00000091622. Homo sapiens.
Family and domain databases
Gene3D	3.40.50.1000. 1 hit.
InterPro	IPR004177. DDHD. IPR023214. HAD-like_dom. IPR013209. LNS2. IPR001666. PI_transfer. [Graphical view]
PANTHER	PTHR10658. PTHR10658. 1 hit.
Pfam	PF02862. DDHD. 1 hit. PF08235. LNS2. 1 hit. [Graphical view]
SMART	SM00775. LNS2. 1 hit. [Graphical view]
SUPFAM	SSF56784. HAD-like_dom. 1 hit.
PROSITE	PS51043. DDHD. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	83394.
NextBio	72295.
SOURCE	Search...

Entry information

Entry name

PITM3_HUMAN

Accession

Primary (citable) accession number: Q9BZ71
Secondary accession number(s): A1A5D0 , F8WEW5, Q59GH9, Q9NPQ4

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 18, 2006
Last sequence update:	April 18, 2006
Last modified:	May 1, 2013
This is version 88 of the entry and version 2 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.