UniProtKB - Q9BZ71 (PITM3_HUMAN)
Protein
Membrane-associated phosphatidylinositol transfer protein 3
Gene
PITPNM3
Organism
Homo sapiens (Human)
Status
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
- phospholipase activity Source: GO_Central
- receptor tyrosine kinase binding Source: UniProtKB
GO - Biological processi
- phosphatidylinositol biosynthetic process Source: Reactome
Keywordsi
Ligand | Calcium, Lipid-binding, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9BZ71 |
Reactomei | R-HSA-1483226, Synthesis of PI |
Names & Taxonomyi
Protein namesi | Recommended name: Membrane-associated phosphatidylinositol transfer protein 3Alternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000091622.15 |
HGNCi | HGNC:21043, PITPNM3 |
MIMi | 608921, gene |
neXtProti | NX_Q9BZ71 |
Subcellular locationi
Other locations
- Endomembrane system Curated; Peripheral membrane protein Curated
Cytosol
- cytosol Source: Reactome
Other locations
- cell body Source: Ensembl
- cell projection Source: Ensembl
- COPII-coated ER to Golgi transport vesicle Source: GO_Central
- cytoplasm Source: GO_Central
- endomembrane system Source: UniProtKB-SubCell
- membrane Source: UniProtKB-KW
Keywords - Cellular componenti
MembranePathology & 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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_046787 | 626 | Q → H in CORD5. 1 PublicationCorresponds to variant dbSNP:rs76024428EnsemblClinVar. | 1 |
Keywords - Diseasei
Cone-rod dystrophy, Disease mutationOrganism-specific databases
DisGeNETi | 83394 |
MalaCardsi | PITPNM3 |
MIMi | 600977, phenotype |
OpenTargetsi | ENSG00000091622 |
Orphaneti | 1872, Cone rod dystrophy |
PharmGKBi | PA134971883 |
Miscellaneous databases
Pharosi | Q9BZ71, Tbio |
Polymorphism and mutation databases
BioMutai | PITPNM3 |
DMDMi | 93140544 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000232743 | 1 – 974 | Membrane-associated phosphatidylinositol transfer protein 3Add BLAST | 974 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 30 | PhosphoserineCombined sources | 1 | |
Modified residuei | 31 | PhosphoserineCombined sources | 1 | |
Modified residuei | 109 | PhosphoserineBy similarity | 1 | |
Modified residuei | 295 | PhosphoserineBy similarity | 1 | |
Modified residuei | 298 | PhosphoserineBy similarity | 1 | |
Modified residuei | 321 | PhosphoserineCombined sources | 1 | |
Modified residuei | 343 | PhosphoserineCombined sources | 1 | |
Modified residuei | 495 | PhosphoserineBy similarity | 1 | |
Modified residuei | 612 | PhosphoserineCombined sources | 1 | |
Modified residuei | 907 | PhosphoserineCombined sources | 1 | |
Modified residuei | 928 | PhosphoserineCombined sources | 1 | |
Modified residuei | 946 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9BZ71 |
jPOSTi | Q9BZ71 |
MassIVEi | Q9BZ71 |
MaxQBi | Q9BZ71 |
PaxDbi | Q9BZ71 |
PeptideAtlasi | Q9BZ71 |
PRIDEi | Q9BZ71 |
ProteomicsDBi | 31981 79771 [Q9BZ71-1] 79772 [Q9BZ71-2] |
PTM databases
iPTMneti | Q9BZ71 |
PhosphoSitePlusi | Q9BZ71 |
Expressioni
Tissue specificityi
Detected in brain and spleen, and at low levels in ovary.1 Publication
Gene expression databases
Bgeei | ENSG00000091622, Expressed in prefrontal cortex and 188 other tissues |
ExpressionAtlasi | Q9BZ71, baseline and differential |
Genevisiblei | Q9BZ71, HS |
Organism-specific databases
HPAi | ENSG00000091622, Tissue enhanced (brain, lymphoid tissue, ovary) |
Interactioni
Subunit structurei
Interacts with PTK2B via its C-terminus.
1 PublicationBinary interactionsi
Q9BZ71
With | #Exp. | IntAct |
---|---|---|
CCL18 [P55774] | 4 | EBI-2815766,EBI-711240 |
GO - Molecular functioni
- receptor tyrosine kinase binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 123636, 5 interactors |
ELMi | Q9BZ71 |
IntActi | Q9BZ71, 8 interactors |
MINTi | Q9BZ71 |
STRINGi | 9606.ENSP00000262483 |
Miscellaneous databases
RNActi | Q9BZ71, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 390 – 594 | DDHDPROSITE-ProRule annotationAdd BLAST | 205 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 279 – 327 | Ser-richAdd BLAST | 49 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG3668, Eukaryota |
GeneTreei | ENSGT00940000153849 |
HOGENOMi | CLU_007179_1_0_1 |
InParanoidi | Q9BZ71 |
OMAi | HPNVFLE |
OrthoDBi | 122895at2759 |
PhylomeDBi | Q9BZ71 |
TreeFami | TF312967 |
Family and domain databases
InterProi | View protein in InterPro IPR004177, DDHD_dom IPR036412, HAD-like_sf IPR031315, LNS2/PITP |
Pfami | View protein in Pfam PF02862, DDHD, 1 hit |
SMARTi | View protein in SMART SM01127, DDHD, 1 hit SM00775, LNS2, 1 hit |
SUPFAMi | SSF56784, SSF56784, 1 hit |
PROSITEi | View protein in PROSITE PS51043, DDHD, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9BZ71-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketI3L1K1 | I3L1K1_HUMAN | Membrane-associated phosphatidylino... | PITPNM3 | 116 | Annotation score: |
Sequence cautioni
The sequence BAD92367 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 885 | A → V in AAK01446 (PubMed:10022914).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_062132 | 17 | P → S. Corresponds to variant dbSNP:rs28493751EnsemblClinVar. | 1 | |
Natural variantiVAR_026014 | 80 | A → T2 PublicationsCorresponds to variant dbSNP:rs3809835EnsemblClinVar. | 1 | |
Natural variantiVAR_046787 | 626 | Q → H in CORD5. 1 PublicationCorresponds to variant dbSNP:rs76024428EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_017965 | 1 – 409 | Missing in isoform 2. 1 PublicationAdd BLAST | 409 | |
Alternative sequenceiVSP_046060 | 40 – 75 | Missing in isoform 3. 1 PublicationAdd BLAST | 36 |
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 |
CCDSi | CCDS11076.1 [Q9BZ71-1] CCDS54080.1 [Q9BZ71-3] |
RefSeqi | NP_112497.2, NM_031220.3 [Q9BZ71-1] |
Genome annotation databases
Ensembli | ENST00000262483; ENSP00000262483; ENSG00000091622 [Q9BZ71-1] ENST00000421306; ENSP00000407882; ENSG00000091622 [Q9BZ71-3] |
GeneIDi | 83394 |
KEGGi | hsa:83394 |
UCSCi | uc002gdd.5, human [Q9BZ71-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS11076.1 [Q9BZ71-1] CCDS54080.1 [Q9BZ71-3] |
RefSeqi | NP_112497.2, NM_031220.3 [Q9BZ71-1] |
3D structure databases
SMRi | Q9BZ71 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 123636, 5 interactors |
ELMi | Q9BZ71 |
IntActi | Q9BZ71, 8 interactors |
MINTi | Q9BZ71 |
STRINGi | 9606.ENSP00000262483 |
PTM databases
iPTMneti | Q9BZ71 |
PhosphoSitePlusi | Q9BZ71 |
Polymorphism and mutation databases
BioMutai | PITPNM3 |
DMDMi | 93140544 |
Proteomic databases
EPDi | Q9BZ71 |
jPOSTi | Q9BZ71 |
MassIVEi | Q9BZ71 |
MaxQBi | Q9BZ71 |
PaxDbi | Q9BZ71 |
PeptideAtlasi | Q9BZ71 |
PRIDEi | Q9BZ71 |
ProteomicsDBi | 31981 79771 [Q9BZ71-1] 79772 [Q9BZ71-2] |
Protocols and materials databases
Antibodypediai | 23792, 117 antibodies |
Genome annotation databases
Ensembli | ENST00000262483; ENSP00000262483; ENSG00000091622 [Q9BZ71-1] ENST00000421306; ENSP00000407882; ENSG00000091622 [Q9BZ71-3] |
GeneIDi | 83394 |
KEGGi | hsa:83394 |
UCSCi | uc002gdd.5, human [Q9BZ71-1] |
Organism-specific databases
CTDi | 83394 |
DisGeNETi | 83394 |
EuPathDBi | HostDB:ENSG00000091622.15 |
GeneCardsi | PITPNM3 |
HGNCi | HGNC:21043, PITPNM3 |
HPAi | ENSG00000091622, Tissue enhanced (brain, lymphoid tissue, ovary) |
MalaCardsi | PITPNM3 |
MIMi | 600977, phenotype 608921, gene |
neXtProti | NX_Q9BZ71 |
OpenTargetsi | ENSG00000091622 |
Orphaneti | 1872, Cone rod dystrophy |
PharmGKBi | PA134971883 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3668, Eukaryota |
GeneTreei | ENSGT00940000153849 |
HOGENOMi | CLU_007179_1_0_1 |
InParanoidi | Q9BZ71 |
OMAi | HPNVFLE |
OrthoDBi | 122895at2759 |
PhylomeDBi | Q9BZ71 |
TreeFami | TF312967 |
Enzyme and pathway databases
PathwayCommonsi | Q9BZ71 |
Reactomei | R-HSA-1483226, Synthesis of PI |
Miscellaneous databases
BioGRID-ORCSi | 83394, 2 hits in 844 CRISPR screens |
GenomeRNAii | 83394 |
Pharosi | Q9BZ71, Tbio |
PROi | PR:Q9BZ71 |
RNActi | Q9BZ71, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000091622, Expressed in prefrontal cortex and 188 other tissues |
ExpressionAtlasi | Q9BZ71, baseline and differential |
Genevisiblei | Q9BZ71, HS |
Family and domain databases
InterProi | View protein in InterPro IPR004177, DDHD_dom IPR036412, HAD-like_sf IPR031315, LNS2/PITP |
Pfami | View protein in Pfam PF02862, DDHD, 1 hit |
SMARTi | View protein in SMART SM01127, DDHD, 1 hit SM00775, LNS2, 1 hit |
SUPFAMi | SSF56784, SSF56784, 1 hit |
PROSITEi | View protein in PROSITE PS51043, DDHD, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PITM3_HUMAN | |
Accessioni | Q9BZ71Primary (citable) accession number: Q9BZ71 Secondary accession number(s): A1A5D0 Q9NPQ4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 18, 2006 |
Last sequence update: | April 18, 2006 | |
Last modified: | December 2, 2020 | |
This is version 148 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations