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UniProtKB - Q9BZ71 (PITM3_HUMAN)

Entry version 139 (31 Jul 2019)
Sequence version 2 (18 Apr 2006)
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Protein

Membrane-associated phosphatidylinositol transfer protein 3

Gene

PITPNM3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • calcium ion binding Source: UniProtKB
  • lipid binding Source: UniProtKB-KW
  • phospholipase activity Source: GO_Central
  • receptor tyrosine kinase binding Source: UniProtKB
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandCalcium, Lipid-binding, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1483226 Synthesis of PI

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PITPNM3
Synonyms:NIR1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:21043 PITPNM3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608921 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BZ71

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_046787626Q → H in CORD5. 1 PublicationCorresponds to variant dbSNP:rs76024428EnsemblClinVar.1

Keywords - Diseasei

Cone-rod dystrophy, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		83394

MalaCards human disease database

More...MalaCardsi		PITPNM3
MIMi600977 phenotype

Open Targets

More...OpenTargetsi		ENSG00000091622

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		1872 Cone rod dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134971883

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PITPNM3

Domain mapping of disease mutations (DMDM)

More...DMDMi		93140544

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002327431 – 974Membrane-associated phosphatidylinositol transfer protein 3Add BLAST974

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BZ71

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BZ71

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BZ71

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9BZ71

PeptideAtlas

More...PeptideAtlasi		Q9BZ71

PRoteomics IDEntifications database

More...PRIDEi		Q9BZ71

ProteomicsDB human proteome resource

More...ProteomicsDBi		31981
79771 [Q9BZ71-1]
79772 [Q9BZ71-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BZ71

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9BZ71

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000091622 Expressed in 170 organ(s), highest expression level in prefrontal cortex

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BZ71 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BZ71 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA022432
HPA059005

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with PTK2B via its C-terminus.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		123636, 4 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q9BZ71

Protein interaction database and analysis system

More...IntActi		Q9BZ71, 7 interactors

Molecular INTeraction database

More...MINTi		Q9BZ71

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000262483

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9BZ71

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini390 – 594DDHDPROSITE-ProRule annotationAdd BLAST205

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi279 – 327Ser-richAdd BLAST49

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3668 Eukaryota
COG5083 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153849

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000294231

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BZ71

Identification of Orthologs from Complete Genome Data

More...OMAi		KVDIFIM

Database of Orthologous Groups

More...OrthoDBi		122895at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BZ71

TreeFam database of animal gene trees

More...TreeFami		TF312967

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR004177 DDHD_dom
IPR036412 HAD-like_sf
IPR031315 LNS2/PITP

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02862 DDHD, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01127 DDHD, 1 hit
SM00775 LNS2, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF56784 SSF56784, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51043 DDHD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L1K1I3L1K1_HUMAN
Membrane-associated phosphatidylino...
PITPNM3
116Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11076.1 [Q9BZ71-1]
CCDS54080.1 [Q9BZ71-3]

NCBI Reference Sequences

More...RefSeqi		NP_112497.2, NM_031220.3 [Q9BZ71-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000262483; ENSP00000262483; ENSG00000091622 [Q9BZ71-1]
ENST00000421306; ENSP00000407882; ENSG00000091622 [Q9BZ71-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		83394

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:83394

UCSC genome browser

More...UCSCi		uc002gdd.5 human [Q9BZ71-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

SMRiQ9BZ71
ModBaseiSearch...

Protein-protein interaction databases

BioGridi123636, 4 interactors
ELMiQ9BZ71
IntActiQ9BZ71, 7 interactors
MINTiQ9BZ71
STRINGi9606.ENSP00000262483

PTM databases

iPTMnetiQ9BZ71
PhosphoSitePlusiQ9BZ71

Polymorphism and mutation databases

BioMutaiPITPNM3
DMDMi93140544

Proteomic databases

EPDiQ9BZ71
jPOSTiQ9BZ71
MaxQBiQ9BZ71
PaxDbiQ9BZ71
PeptideAtlasiQ9BZ71
PRIDEiQ9BZ71
ProteomicsDBi31981
79771 [Q9BZ71-1]
79772 [Q9BZ71-2]

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

Comparative Toxicogenomics Database

More...CTDi		83394
DisGeNETi83394

GeneCards: human genes, protein and diseases

More...GeneCardsi		PITPNM3
HGNCiHGNC:21043 PITPNM3
HPAiHPA022432
HPA059005
MalaCardsiPITPNM3
MIMi600977 phenotype
608921 gene
neXtProtiNX_Q9BZ71
OpenTargetsiENSG00000091622
Orphaneti1872 Cone rod dystrophy
PharmGKBiPA134971883

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3668 Eukaryota
COG5083 LUCA
GeneTreeiENSGT00940000153849
HOGENOMiHOG000294231
InParanoidiQ9BZ71
OMAiKVDIFIM
OrthoDBi122895at2759
PhylomeDBiQ9BZ71
TreeFamiTF312967

Enzyme and pathway databases

ReactomeiR-HSA-1483226 Synthesis of PI

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		83394

Protein Ontology

More...PROi		PR:Q9BZ71

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000091622 Expressed in 170 organ(s), highest expression level in prefrontal cortex
ExpressionAtlasiQ9BZ71 baseline and differential
GenevisibleiQ9BZ71 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPITM3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BZ71
Secondary accession number(s): A1A5D0
, F8WEW5, Q59GH9, Q9NPQ4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: April 18, 2006
Last modified: July 31, 2019
This is version 139 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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