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UniProtKB - Q9BZ71 (PITM3_HUMAN)

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Protein

Membrane-associated phosphatidylinositol transfer protein 3

Gene

PITPNM3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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: Reactome
  • receptor tyrosine kinase binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

LigandCalcium, Lipid-binding, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-1483226 Synthesis of PI

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000091622.15
HGNCiHGNC:21043 PITPNM3
MIMi608921 gene
neXtProtiNX_Q9BZ71

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
See also OMIM:600977
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_046787626Q → H in CORD5. 1 PublicationCorresponds to variant dbSNP:rs76024428EnsemblClinVar.1

Keywords - Diseasei

Cone-rod dystrophy, Disease mutation

Organism-specific databases

DisGeNETi83394
MalaCardsiPITPNM3
MIMi600977 phenotype
OpenTargetsiENSG00000091622
Orphaneti1872 Cone rod dystrophy
PharmGKBiPA134971883

Polymorphism and mutation databases

BioMutaiPITPNM3
DMDMi93140544

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002327431 – 974Membrane-associated phosphatidylinositol transfer protein 3Add BLAST974

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei30PhosphoserineCombined sources1
Modified residuei31PhosphoserineCombined sources1
Modified residuei109PhosphoserineBy similarity1
Modified residuei295PhosphoserineBy similarity1
Modified residuei298PhosphoserineBy similarity1
Modified residuei321PhosphoserineCombined sources1
Modified residuei343PhosphoserineCombined sources1
Modified residuei495PhosphoserineBy similarity1
Modified residuei612PhosphoserineCombined sources1
Modified residuei907PhosphoserineCombined sources1
Modified residuei928PhosphoserineCombined sources1
Modified residuei946PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BZ71
MaxQBiQ9BZ71
PaxDbiQ9BZ71
PeptideAtlasiQ9BZ71
PRIDEiQ9BZ71
ProteomicsDBi79771
79772 [Q9BZ71-2]

PTM databases

iPTMnetiQ9BZ71
PhosphoSitePlusiQ9BZ71

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000091622
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
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi123636, 3 interactors
ELMiQ9BZ71
IntActiQ9BZ71, 5 interactors
MINTiQ9BZ71
STRINGi9606.ENSP00000262483

Structurei

3D structure databases

ProteinModelPortaliQ9BZ71
SMRiQ9BZ71
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini390 – 594DDHDPROSITE-ProRule annotationAdd BLAST205

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi279 – 327Ser-richAdd BLAST49

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG3668 Eukaryota
COG5083 LUCA
GeneTreeiENSGT00760000119216
HOGENOMiHOG000294231
HOVERGENiHBG052733
InParanoidiQ9BZ71
OMAiCAMSYLT
OrthoDBiEOG091G0BMT
PhylomeDBiQ9BZ71
TreeFamiTF312967

Family and domain databases

InterProiView protein in InterPro
IPR004177 DDHD_dom
IPR036412 HAD-like_sf
IPR031315 LNS2/PITP
PfamiView protein in Pfam
PF02862 DDHD, 1 hit
SMARTiView protein in SMART
SM01127 DDHD, 1 hit
SM00775 LNS2, 1 hit
SUPFAMiSSF56784 SSF56784, 1 hit
PROSITEiView protein in PROSITE
PS51043 DDHD, 1 hit

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 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti885A → V in AAK01446 (PubMed:10022914).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06213217P → S. Corresponds to variant dbSNP:rs28493751EnsemblClinVar.1
Natural variantiVAR_02601480A → T2 PublicationsCorresponds to variant dbSNP:rs3809835EnsemblClinVar.1
Natural variantiVAR_046787626Q → H in CORD5. 1 PublicationCorresponds to variant dbSNP:rs76024428EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0179651 – 409Missing in isoform 2. 1 PublicationAdd BLAST409
Alternative sequenceiVSP_04606040 – 75Missing in isoform 3. 1 PublicationAdd BLAST36

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

Similar proteinsi

Entry informationi

Entry nameiPITM3_HUMAN
AccessioniPrimary (citable) accession number: Q9BZ71
Secondary accession number(s): A1A5D0
, F8WEW5, Q59GH9, Q9NPQ4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: April 18, 2006
Last modified: July 18, 2018
This is version 132 of the entry and version 2 of the sequence. See 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

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