Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Membrane-associated phosphatidylinositol transfer protein 3

Gene

PITPNM3

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) (By similarity). Binds calcium ions.By similarity

GO - Molecular functioni

  • calcium ion binding Source: UniProtKB
  • lipid binding Source: UniProtKB-KW
  • phosphatidylinositol transporter activity Source: UniProtKB
  • receptor tyrosine kinase binding Source: UniProtKB

GO - Biological processi

  • phosphatidylinositol metabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Calcium, Lipid-binding, Metal-binding

Names & Taxonomyi

Protein namesi
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 namesi
Name:PITPNM3
Synonyms:NIR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:21043. PITPNM3.

Subcellular locationi

GO - Cellular componenti

  • endomembrane system Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB
  • intracellular Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Cone-rod dystrophy 5 (CORD5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:600977
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti626 – 6261Q → H in CORD5. 1 Publication
Corresponds to variant rs76024428 [ dbSNP | Ensembl ].
VAR_046787

Keywords - Diseasei

Cone-rod dystrophy, Disease mutation

Organism-specific databases

MalaCardsiPITPNM3.
MIMi600977. phenotype.
Orphaneti1872. Cone rod dystrophy.
PharmGKBiPA134971883.

Polymorphism and mutation databases

BioMutaiPITPNM3.
DMDMi93140544.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 974974Membrane-associated phosphatidylinositol transfer protein 3PRO_0000232743Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei30 – 301PhosphoserineCombined sources
Modified residuei31 – 311PhosphoserineCombined sources
Modified residuei109 – 1091PhosphoserineBy similarity
Modified residuei295 – 2951PhosphoserineBy similarity
Modified residuei298 – 2981PhosphoserineBy similarity
Modified residuei321 – 3211PhosphoserineCombined sources
Modified residuei343 – 3431PhosphoserineCombined sources
Modified residuei495 – 4951PhosphoserineBy similarity
Modified residuei612 – 6121PhosphoserineCombined sources
Modified residuei907 – 9071PhosphoserineCombined sources
Modified residuei928 – 9281PhosphoserineCombined sources
Modified residuei946 – 9461PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BZ71.
MaxQBiQ9BZ71.
PaxDbiQ9BZ71.
PeptideAtlasiQ9BZ71.
PRIDEiQ9BZ71.

PTM databases

iPTMnetiQ9BZ71.
PhosphoSiteiQ9BZ71.

Expressioni

Tissue specificityi

Detected in brain and spleen, and at low levels in ovary.1 Publication

Gene expression databases

BgeeiQ9BZ71.
CleanExiHS_PITPNM3.
ExpressionAtlasiQ9BZ71. baseline and differential.
GenevisibleiQ9BZ71. HS.

Organism-specific databases

HPAiHPA022432.
HPA059005.

Interactioni

Subunit structurei

Interacts with PTK2B via its C-terminus.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CCL18P557744EBI-2815766,EBI-711240

GO - Molecular functioni

  • receptor tyrosine kinase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi123636. 3 interactions.
IntActiQ9BZ71. 4 interactions.
STRINGi9606.ENSP00000262483.

Structurei

3D structure databases

ProteinModelPortaliQ9BZ71.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini390 – 594205DDHDPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi279 – 32749Ser-richAdd
BLAST

Sequence similaritiesi

Contains 1 DDHD domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3668. Eukaryota.
COG5083. LUCA.
GeneTreeiENSGT00760000119216.
HOGENOMiHOG000294231.
HOVERGENiHBG052733.
InParanoidiQ9BZ71.
OMAiCAMSYLT.
OrthoDBiEOG7NW69J.
PhylomeDBiQ9BZ71.
TreeFamiTF312967.

Family and domain databases

Gene3Di3.40.50.1000. 1 hit.
InterProiIPR004177. DDHD_dom.
IPR023214. HAD-like_dom.
IPR031315. LNS2/PITP.
IPR001666. PI_transfer.
[Graphical view]
PANTHERiPTHR10658. PTHR10658. 1 hit.
PfamiPF02862. DDHD. 1 hit.
[Graphical view]
SMARTiSM01127. DDHD. 1 hit.
SM00775. 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. AlignAdd to basket

Isoform 1 (identifier: Q9BZ71-1) [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
MAKAGRAGGP PPGGGAPWHL RNVLSDSVES SDDEFFDARE EMAEGKNAIL
60 70 80 90 100
IGMSQWNSND LVEQIETMGK LDEHQGEGTA PCTSSILQEK QRELYRVSLR
110 120 130 140 150
RQRFPAQGSI EIHEDSEEGC PQRSCKTHVL LLVLHGGNIL DTGAGDPSCK
160 170 180 190 200
AADIHTFSSV LEKVTRAHFP AALGHILIKF VPCPAICSEA FSLVSHLNPY
210 220 230 240 250
SHDEGCLSSS QDHVPLAALP LLAISSPQYQ DAVATVIERA NQVYREFLKS
260 270 280 290 300
SDGIGFSGQV CLIGDCVGGL LAFDAICYSA GPSGDSPASS SRKGSISSTQ
310 320 330 340 350
DTPVAVEEDC SLASSKRLSK SNIDISSGLE DEEPKRPLPR KQSDSSTYDC
360 370 380 390 400
EAITQHHAFL SSIHSSVLKD ESETPAAGGP QLPEVSLGRF DFDVSDFFLF
410 420 430 440 450
GSPLGLVLAM RRTVLPGLDG FQVRPACSQV YSFFHCADPS ASRLEPLLEP
460 470 480 490 500
KFHLVPPVSV PRYQRFPLGD GQSLLLADAL HTHSPLFLEG SSRDSPPLLD
510 520 530 540 550
APASPPQASR FQRPGRRMSE GSSHSESSES SDSMAPVGAS RITAKWWGSK
560 570 580 590 600
RIDYALYCPD VLTAFPTVAL PHLFHASYWE STDVVAFILR QVMRYESVNI
610 620 630 640 650
KESARLDPAA LSPANPREKW LRKRTQVKLR NVTANHRAND VIAAEDGPQV
660 670 680 690 700
LVGRFMYGPL DMVALTGEKV DILVMAEPSS GRWVHLDTEI TNSSGRITYN
710 720 730 740 750
VPRPRRLGVG VYPVKMVVRG DQTCAMSYLT VLPRGMECVV FSIDGSFAAS
760 770 780 790 800
VSIMGSDPKV RPGAVDVVRH WQDLGYMILY ITGRPDMQKQ RVVSWLSQHN
810 820 830 840 850
FPQGMIFFSD GLVHDPLRQK AIFLRNLMQE CFIKISAAYG STKDISVYSV
860 870 880 890 900
LGLPASQIFI VGRPTKKYQT QCQFLSEGYA AHLAALEASH RSRPKKNNSR
910 920 930 940 950
MILRKGSFGL HAQPEFLRKR NHLRRTMSVQ QPDPPAANPK PERAQSQPES
960 970
DKDHERPLPA LSWARGPPKF ESVP
Length:974
Mass (Da):106,781
Last modified:April 18, 2006 - v2
Checksum:iC4A653710140895E
GO
Isoform 2 (identifier: Q9BZ71-2) [UniParc]FASTAAdd to basket

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.
Show »
Length:565
Mass (Da):63,100
Checksum:i5634D1E2B539A225
GO
Isoform 3 (identifier: Q9BZ71-3) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:938
Mass (Da):102,710
Checksum:i1D133038C755E820
GO

Sequence cautioni

The sequence BAD92367.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti885 – 8851A → V in AAK01446 (PubMed:10022914).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171P → S.
Corresponds to variant rs28493751 [ dbSNP | Ensembl ].
VAR_062132
Natural varianti80 – 801A → T.2 Publications
Corresponds to variant rs3809835 [ dbSNP | Ensembl ].
VAR_026014
Natural varianti626 – 6261Q → H in CORD5. 1 Publication
Corresponds to variant rs76024428 [ dbSNP | Ensembl ].
VAR_046787

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 409409Missing in isoform 2. 1 PublicationVSP_017965Add
BLAST
Alternative sequencei40 – 7536Missing in isoform 3. 1 PublicationVSP_046060Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS11076.1. [Q9BZ71-1]
CCDS54080.1. [Q9BZ71-3]
RefSeqiNP_112497.2. NM_031220.3. [Q9BZ71-1]
UniGeneiHs.183983.

Genome annotation databases

EnsembliENST00000262483; ENSP00000262483; ENSG00000091622. [Q9BZ71-1]
ENST00000421306; ENSP00000407882; ENSG00000091622. [Q9BZ71-3]
GeneIDi83394.
KEGGihsa:83394.
UCSCiuc002gdd.5. human. [Q9BZ71-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS11076.1. [Q9BZ71-1]
CCDS54080.1. [Q9BZ71-3]
RefSeqiNP_112497.2. NM_031220.3. [Q9BZ71-1]
UniGeneiHs.183983.

3D structure databases

ProteinModelPortaliQ9BZ71.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123636. 3 interactions.
IntActiQ9BZ71. 4 interactions.
STRINGi9606.ENSP00000262483.

PTM databases

iPTMnetiQ9BZ71.
PhosphoSiteiQ9BZ71.

Polymorphism and mutation databases

BioMutaiPITPNM3.
DMDMi93140544.

Proteomic databases

EPDiQ9BZ71.
MaxQBiQ9BZ71.
PaxDbiQ9BZ71.
PeptideAtlasiQ9BZ71.
PRIDEiQ9BZ71.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262483; ENSP00000262483; ENSG00000091622. [Q9BZ71-1]
ENST00000421306; ENSP00000407882; ENSG00000091622. [Q9BZ71-3]
GeneIDi83394.
KEGGihsa:83394.
UCSCiuc002gdd.5. human. [Q9BZ71-1]

Organism-specific databases

CTDi83394.
GeneCardsiPITPNM3.
HGNCiHGNC:21043. PITPNM3.
HPAiHPA022432.
HPA059005.
MalaCardsiPITPNM3.
MIMi600977. phenotype.
608921. gene.
neXtProtiNX_Q9BZ71.
Orphaneti1872. Cone rod dystrophy.
PharmGKBiPA134971883.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3668. Eukaryota.
COG5083. LUCA.
GeneTreeiENSGT00760000119216.
HOGENOMiHOG000294231.
HOVERGENiHBG052733.
InParanoidiQ9BZ71.
OMAiCAMSYLT.
OrthoDBiEOG7NW69J.
PhylomeDBiQ9BZ71.
TreeFamiTF312967.

Miscellaneous databases

GenomeRNAii83394.
PROiQ9BZ71.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BZ71.
CleanExiHS_PITPNM3.
ExpressionAtlasiQ9BZ71. baseline and differential.
GenevisibleiQ9BZ71. HS.

Family and domain databases

Gene3Di3.40.50.1000. 1 hit.
InterProiIPR004177. DDHD_dom.
IPR023214. HAD-like_dom.
IPR031315. LNS2/PITP.
IPR001666. PI_transfer.
[Graphical view]
PANTHERiPTHR10658. PTHR10658. 1 hit.
PfamiPF02862. DDHD. 1 hit.
[Graphical view]
SMARTiSM01127. DDHD. 1 hit.
SM00775. LNS2. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 1 hit.
PROSITEiPS51043. DDHD. 1 hit.
[Graphical view]
ProtoNetiSearch...

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), 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] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-954 (ISOFORM 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. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30; SER-31 AND SER-928, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. "Toward a comprehensive characterization of a human cancer cell phosphoproteome."
    Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S.
    J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-321; SER-612; SER-907 AND SER-946, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-343 AND SER-928, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  9. "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.

Entry informationi

Entry nameiPITM3_HUMAN
AccessioniPrimary (citable) accession number: Q9BZ71
Secondary accession number(s): A1A5D0
, F8WEW5, Q59GH9, Q9NPQ4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: April 18, 2006
Last modified: July 6, 2016
This is version 119 of the entry and version 2 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 17
    Human chromosome 17: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.