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UniProtKB - Q6ZV29 (PLPL7_HUMAN)

Entry version 141 (26 Feb 2020)
Sequence version 4 (28 Mar 2018)
Previous versions | rss
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Protein

Patatin-like phospholipase domain-containing protein 7

Gene

PNPLA7

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

Serine hydrolase, whose specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei961NucleophilePROSITE-ProRule annotation1
Active sitei1081Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi145 – 272cNMP 1Add BLAST128
Nucleotide bindingi458 – 580cNMP 2Add BLAST123
Nucleotide bindingi576 – 696cNMP 3Add BLAST121

<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

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

Molecular functionHydrolase
Biological processLipid degradation, Lipid metabolism

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6814848 Glycerophospholipid catabolism

<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%5Fand%5Ftaxonomy%5Fsection">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:
Patatin-like phospholipase domain-containing protein 7 (EC:3.1.1.-)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:PNPLA7
Synonyms:C9orf111
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 9

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:24768 PNPLA7

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612122 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6ZV29

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei13 – 33HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Lysosome, Membrane, Microsome, Mitochondrion, Nucleus

<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

Organism-specific databases

DisGeNET

More...DisGeNETi		375775

Open Targets

More...OpenTargetsi		ENSG00000130653

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134935962

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6ZV29 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PNPLA7

Domain mapping of disease mutations (DMDM)

More...DMDMi		296452996

<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_00002934891 – 1317Patatin-like phospholipase domain-containing protein 7Add BLAST1317

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 residuei355PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi728N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi975N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1014N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1233N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei1258PhosphoserineBy similarity1
Modified residuei1262PhosphothreonineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6ZV29

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6ZV29

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

More...PaxDbi		Q6ZV29

PeptideAtlas

More...PeptideAtlasi		Q6ZV29

PRoteomics IDEntifications database

More...PRIDEi		Q6ZV29

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		68378 [Q6ZV29-1]
68379 [Q6ZV29-2]
68380 [Q6ZV29-3]
68381 [Q6ZV29-4]
68382 [Q6ZV29-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6ZV29

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

More...PhosphoSitePlusi		Q6ZV29

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000130653 Expressed in prostate gland and 110 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6ZV29 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6ZV29 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA009130

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		131999, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000384610

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6ZV29 protein

<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		Q6ZV29

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%5Fand%5Fdomains%5Fsection">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>Domaini928 – 1094PNPLAPROSITE-ProRule annotationAdd BLAST167

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi932 – 937GXGXXGPROSITE-ProRule annotation6
Motifi959 – 963GXSXGPROSITE-ProRule annotation5
Motifi1081 – 1083DGA/GPROSITE-ProRule annotation3

<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 NTE family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2968 Eukaryota
COG0664 LUCA
COG1752 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156763

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000960_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6ZV29

KEGG Orthology (KO)

More...KOi		K14676

Identification of Orthologs from Complete Genome Data

More...OMAi		YPKATAH

Database of Orthologous Groups

More...OrthoDBi		253518at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6ZV29

TreeFam database of animal gene trees

More...TreeFami		TF300519

Family and domain databases

Conserved Domains Database

More...CDDi		cd00038 CAP_ED, 3 hits

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.120.10, 3 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR016035 Acyl_Trfase/lysoPLipase
IPR018490 cNMP-bd-like
IPR000595 cNMP-bd_dom
IPR002641 PNPLA_dom
IPR014710 RmlC-like_jellyroll

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00027 cNMP_binding, 3 hits
PF01734 Patatin, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00100 cNMP, 3 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF51206 SSF51206, 3 hits
SSF52151 SSF52151, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50042 CNMP_BINDING_3, 3 hits
PS51635 PNPLA, 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%5Flength">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 (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 5 <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 5 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6ZV29-1) [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
MEEEKDDSPQ LTGIAVGALL ALALVGVLIL FMFRRLRQFR QAQPTPQYRF 
        60         70         80         90        100
RKRDKVMFYG RKIMRKVTTL PNTLVENTAL PRQRARKRTK VLSLAKRILR 
       110        120        130        140        150
FKKEYPALQP KEPPPSLLEA DLTEFDVKNS HLPSEVLYML KNVRVLGHFE 
       160        170        180        190        200
KPLFLELCKH IVFVQLQEGE HVFQPREPDP SICVVQDGRL EVCIQDTDGT 
       210        220        230        240        250
EVVVKEVLAG DSVHSLLSIL DIITGHAAPY KTVSVRAAIP STILRLPAAA 
       260        270        280        290        300
FHGVFEKYPE TLVRVVQIIM VRLQRVTFLA LHNYLGLTTE LFNAESQAIP 
       310        320        330        340        350
LVSVASVAAG KAKKQVFYGE EERLKKPPRL QESCDSDHGG GRPAAAGPLL 
       360        370        380        390        400
KRSHSVPAPS IRKQILEELE KPGAGDPDPS APQGGPGSAT SDLGMACDRA 
       410        420        430        440        450
RVFLHSDEHP GSSVASKSRK SVMVAEIPST VSQHSESHTD ETLASRKSDA 
       460        470        480        490        500
IFRAAKKDLL TLMKLEDSSL LDGRVALLHV PAGTVVSRQG DQDASILFVV 
       510        520        530        540        550
SGLLHVYQRK IGSQEDTCLF LTRPGEMVGQ LAVLTGEPLI FTVKANRDCS 
       560        570        580        590        600
FLSISKAHFY EIMRKQPTVV LGVAHTVVKR MSSFVRQIDF ALDWVEVEAG 
       610        620        630        640        650
RAIYRQGDKS DCTYIMLSGR LRSVIRKDDG KKRLAGEYGR GDLVGVVETL 
       660        670        680        690        700
THQARATTVH AVRDSELAKL PAGALTSIKR RYPQVVTRLI HLLGEKILGS 
       710        720        730        740        750
LQQGPVTGHQ LGLPTEGSKW DLGNPAVNLS TVAVMPVSEE VPLTAFALEL 
       760        770        780        790        800
EHALSAIGPT LLLTSDNIKR RLGSAALDSV HEYRLSSWLG QQEDTHRIVL 
       810        820        830        840        850
YQADGTLTPW TQRCVRQADC ILIVGLGDQE PTVGELERML ESTAVRAQKQ 
       860        870        880        890        900
LILLHREEGP APARTVEWLN MRSWCSGHLH LCCPRRVFSR RSLPKLVEMY 
       910        920        930        940        950
KHVFQRPPDR HSDFSRLARV LTGNAIALVL GGGGARGCAQ VGVLKALAEC 
       960        970        980        990       1000
GIPVDMVGGT SIGAFVGALY SEERNYSQMR IRAKQWAEGM TSLMKAALDL 
      1010       1020       1030       1040       1050
TYPITSMFSG AGFNSSIFSV FKDQQIEDLW IPYFAITTDI TASAMRVHTD 
      1060       1070       1080       1090       1100
GSLWWYVRAS MSLSGYMPPL CDPKDGHLLM DGGYINNLPA DVARSMGAKV 
      1110       1120       1130       1140       1150
VIAIDVGSRD ETDLTNYGDA LSGWWLLWKR WNPLATKVKV LNMAEIQTRL 
      1160       1170       1180       1190       1200
AYVCCVRQLE VVKSSDYCEY LRPPIDSYST LDFGKFNEIC EVGYQHGRTV 
      1210       1220       1230       1240       1250
FDIWGRSGVL EKMLRDQQGP SKKPASAVLT CPNASFTDLA EIVSRIEPAK 
      1260       1270       1280       1290       1300
PAMVDDESDY QTEYEEELLD VPRDAYADFQ STSAQQGSDL EDESSLRHRH 
      1310 
PSLAFPKLSE GSSDQDG
Length:1,317
Mass (Da):145,705
Last modified:March 28, 2018 - v4
<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:i3C0DFC7DE916F349
GO
Isoform 2 (identifier: Q6ZV29-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     10-10: Q → QADFCLGTALHSWGLWFTEEGSPSTM
     384-433: GGPGSATSDL...VAEIPSTVSQ → ARVLCLLPQC...GHKPHVTVDT
     434-1317: Missing.

Show »
Length:458
Mass (Da):50,719
Checksum:i125B513AF8FA5CAC
GO
Isoform 3 (identifier: Q6ZV29-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1191-1255: EVGYQHGRTVFDIWGRSGVLEKMLRDQQGPSKKPASAVLTCPNASFTDLAEIVSRIEPAKPAMVD → VP

Show »
Length:1,254
Mass (Da):138,820
Checksum:i9A0C21C0BCCD4274
GO
Isoform 4 (identifier: Q6ZV29-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1256-1268: DESDYQTEYEEEL → GEWRRKTKPWRRA
     1269-1317: Missing.

Show »
Length:1,268
Mass (Da):140,452
Checksum:i9340B3B094D72932
GO
Isoform 5 (identifier: Q6ZV29-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     10-10: Q → QADFCLGTALHSWGLWFTEEGSPSTM

Show »
Length:1,342
Mass (Da):148,431
Checksum:iE56D9ADBE9D30BC1
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
F2Z2D4F2Z2D4_HUMAN
Patatin-like phospholipase domain-c...
PNPLA7
200Annotation 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 BAB71033 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti173F → L in BAC86509 (PubMed:14702039).Curated1
Sequence conflicti326K → M in BAC86036 (PubMed:14702039).Curated1
Sequence conflicti384 – 399Missing in BAC86509 (PubMed:14702039).CuratedAdd BLAST16
Sequence conflicti403 – 473FLHSD…SLLDG → LCLLPQCLGGLPPTDTSVYS SASSDCCGCSMPVLCIMGHK PHVTVDT in BAC86509 (PubMed:14702039).CuratedAdd BLAST71
Sequence conflicti409H → D in BAC86036 (PubMed:14702039).Curated1
Sequence conflicti874W → S in BAB71033 (PubMed:14702039).Curated1
Sequence conflicti892 – 896SLPKL → RLLPQ in BAC56931 (PubMed:14702039).Curated5
Sequence conflicti1016 – 1027SIFSV…DQQIE → WERAHLSPVRPQ in BAB15733 (PubMed:14702039).CuratedAdd BLAST12
Sequence conflicti1027E → EQ in CAH56483 (PubMed:17974005).Curated1
Sequence conflicti1055W → R in BAB15733 (PubMed:14702039).Curated1
Sequence conflicti1055W → R in BAB71033 (PubMed:14702039).Curated1
Sequence conflicti1055W → R in BAC56931 (PubMed:14702039).Curated1
Sequence conflicti1055W → R in BAC86036 (PubMed:14702039).Curated1
Sequence conflicti1055W → R in AAH25663 (PubMed:15489334).Curated1
Sequence conflicti1055W → R in CAH56322 (PubMed:17974005).Curated1
Sequence conflicti1055W → R in CAH56483 (PubMed:17974005).Curated1
Sequence conflicti1140V → VV in CAH56483 (PubMed:17974005).Curated1

Natural variant

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_061139236R → H. Corresponds to variant dbSNP:rs12788Ensembl.1
Natural variantiVAR_055696286G → S. Corresponds to variant dbSNP:rs2298171Ensembl.1
Natural variantiVAR_033060323R → Q. Corresponds to variant dbSNP:rs11137410Ensembl.1
Natural variantiVAR_033061364Q → E. Corresponds to variant dbSNP:rs3750378Ensembl.1
Natural variantiVAR_033062368E → D. Corresponds to variant dbSNP:rs3750379Ensembl.1
Natural variantiVAR_060409387G → S. Corresponds to variant dbSNP:rs11791683Ensembl.1
Natural variantiVAR_033063803A → V. Corresponds to variant dbSNP:rs1891630Ensembl.1
Natural variantiVAR_033064824V → M. Corresponds to variant dbSNP:rs34938599Ensembl.1
Natural variantiVAR_033065908P → L1 PublicationCorresponds to variant dbSNP:rs3812499Ensembl.1
Natural variantiVAR_033066993L → M. Corresponds to variant dbSNP:rs35177111Ensembl.1
Natural variantiVAR_0556971050D → N1 PublicationCorresponds to variant dbSNP:rs4962237Ensembl.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_02650010Q → QADFCLGTALHSWGLWFTEE GSPSTM in isoform 2 and isoform 5. 1 Publication1
Alternative sequenceiVSP_026501384 – 433GGPGS…STVSQ → ARVLCLLPQCLGGLPPTDTS VYSSASSDCCGCSMPVLCIM GHKPHVTVDT in isoform 2. 1 PublicationAdd BLAST50
Alternative sequenceiVSP_026502434 – 1317Missing in isoform 2. 1 PublicationAdd BLAST884
Alternative sequenceiVSP_0265031191 – 1255EVGYQ…PAMVD → VP in isoform 3. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_0265041256 – 1268DESDY…YEEEL → GEWRRKTKPWRRA in isoform 4. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_0265051269 – 1317Missing in isoform 4. 1 PublicationAdd BLAST49

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
AK024443 mRNA Translation: BAB15733.1
AK055880 mRNA Translation: BAB71033.1 Different initiation.
AK122590 mRNA Translation: BAC56931.1
AK125060 mRNA Translation: BAC86036.1
AK126267 mRNA Translation: BAC86509.1
AL365502 Genomic DNA No translation available.
BC025663 mRNA Translation: AAH25663.1
AL832944 mRNA Translation: CAH56322.1
AL832856 mRNA Translation: CAH56483.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS48070.1 [Q6ZV29-5]
CCDS7045.1 [Q6ZV29-1]

NCBI Reference Sequences

More...RefSeqi		NP_001092007.2, NM_001098537.2 [Q6ZV29-5]
NP_689499.4, NM_152286.4 [Q6ZV29-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000277531; ENSP00000277531; ENSG00000130653 [Q6ZV29-1]
ENST00000406427; ENSP00000384610; ENSG00000130653 [Q6ZV29-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		375775

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:375775

UCSC genome browser

More...UCSCi		uc004cnf.3 human [Q6ZV29-1]

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
AK024443 mRNA Translation: BAB15733.1
AK055880 mRNA Translation: BAB71033.1 Different initiation.
AK122590 mRNA Translation: BAC56931.1
AK125060 mRNA Translation: BAC86036.1
AK126267 mRNA Translation: BAC86509.1
AL365502 Genomic DNA No translation available.
BC025663 mRNA Translation: AAH25663.1
AL832944 mRNA Translation: CAH56322.1
AL832856 mRNA Translation: CAH56483.1
CCDSiCCDS48070.1 [Q6ZV29-5]
CCDS7045.1 [Q6ZV29-1]
RefSeqiNP_001092007.2, NM_001098537.2 [Q6ZV29-5]
NP_689499.4, NM_152286.4 [Q6ZV29-1]

3D structure databases

SMRiQ6ZV29
ModBaseiSearch...

Protein-protein interaction databases

BioGridi131999, 2 interactors
STRINGi9606.ENSP00000384610

PTM databases

iPTMnetiQ6ZV29
PhosphoSitePlusiQ6ZV29

Polymorphism and mutation databases

BioMutaiPNPLA7
DMDMi296452996

Proteomic databases

jPOSTiQ6ZV29
MassIVEiQ6ZV29
PaxDbiQ6ZV29
PeptideAtlasiQ6ZV29
PRIDEiQ6ZV29
ProteomicsDBi68378 [Q6ZV29-1]
68379 [Q6ZV29-2]
68380 [Q6ZV29-3]
68381 [Q6ZV29-4]
68382 [Q6ZV29-5]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		375775

Genome annotation databases

EnsembliENST00000277531; ENSP00000277531; ENSG00000130653 [Q6ZV29-1]
ENST00000406427; ENSP00000384610; ENSG00000130653 [Q6ZV29-5]
GeneIDi375775
KEGGihsa:375775
UCSCiuc004cnf.3 human [Q6ZV29-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		375775
DisGeNETi375775

GeneCards: human genes, protein and diseases

More...GeneCardsi		PNPLA7
HGNCiHGNC:24768 PNPLA7
HPAiHPA009130
MIMi612122 gene
neXtProtiNX_Q6ZV29
OpenTargetsiENSG00000130653
PharmGKBiPA134935962

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2968 Eukaryota
COG0664 LUCA
COG1752 LUCA
GeneTreeiENSGT00940000156763
HOGENOMiCLU_000960_1_0_1
InParanoidiQ6ZV29
KOiK14676
OMAiYPKATAH
OrthoDBi253518at2759
PhylomeDBiQ6ZV29
TreeFamiTF300519

Enzyme and pathway databases

ReactomeiR-HSA-6814848 Glycerophospholipid catabolism

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PNPLA7 human

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

More...GenomeRNAii		375775
PharosiQ6ZV29 Tdark

Protein Ontology

More...PROi		PR:Q6ZV29
RNActiQ6ZV29 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000130653 Expressed in prostate gland and 110 other tissues
ExpressionAtlasiQ6ZV29 baseline and differential
GenevisibleiQ6ZV29 HS

Family and domain databases

CDDicd00038 CAP_ED, 3 hits
Gene3Di2.60.120.10, 3 hits
InterProiView protein in InterPro
IPR016035 Acyl_Trfase/lysoPLipase
IPR018490 cNMP-bd-like
IPR000595 cNMP-bd_dom
IPR002641 PNPLA_dom
IPR014710 RmlC-like_jellyroll
PfamiView protein in Pfam
PF00027 cNMP_binding, 3 hits
PF01734 Patatin, 1 hit
SMARTiView protein in SMART
SM00100 cNMP, 3 hits
SUPFAMiSSF51206 SSF51206, 3 hits
SSF52151 SSF52151, 1 hit
PROSITEiView protein in PROSITE
PS50042 CNMP_BINDING_3, 3 hits
PS51635 PNPLA, 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 nameiPLPL7_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: Q6ZV29
Secondary accession number(s): B5MDD3
, Q5T364, Q658X0, Q658Y3, Q6ZTS1, Q86YU8, Q8TAY5, Q96N75, Q9H7N5
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: March 28, 2018
Last modified: February 26, 2020
This is version 141 of the entry and version 4 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

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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