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Protein

Patatin-like phospholipase domain-containing protein 7

Gene

PNPLA7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei961NucleophilePROSITE-ProRule annotation1
Active sitei1081Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi145 – 272cNMP 1Add BLAST128
Nucleotide bindingi458 – 580cNMP 2Add BLAST123
Nucleotide bindingi576 – 696cNMP 3Add BLAST121

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processLipid degradation, Lipid metabolism

Enzyme and pathway databases

ReactomeiR-HSA-6814848 Glycerophospholipid catabolism

Names & Taxonomyi

Protein namesi
Recommended name:
Patatin-like phospholipase domain-containing protein 7 (EC:3.1.1.-)
Gene namesi
Name:PNPLA7
Synonyms:C9orf111
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000130653.15
HGNCiHGNC:24768 PNPLA7
MIMi612122 gene
neXtProtiNX_Q6ZV29

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei13 – 33HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000130653
PharmGKBiPA134935962

Polymorphism and mutation databases

BioMutaiPNPLA7
DMDMi296452996

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002934891 – 1317Patatin-like phospholipase domain-containing protein 7Add BLAST1317

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei355PhosphoserineCombined sources1
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

EPDiQ6ZV29
PaxDbiQ6ZV29
PeptideAtlasiQ6ZV29
PRIDEiQ6ZV29
ProteomicsDBi68378
68379 [Q6ZV29-2]
68380 [Q6ZV29-3]
68381 [Q6ZV29-4]
68382 [Q6ZV29-5]

PTM databases

iPTMnetiQ6ZV29
PhosphoSitePlusiQ6ZV29

Expressioni

Gene expression databases

BgeeiENSG00000130653
ExpressionAtlasiQ6ZV29 baseline and differential
GenevisibleiQ6ZV29 HS

Organism-specific databases

HPAiHPA009130

Interactioni

Protein-protein interaction databases

BioGridi131999, 2 interactors
STRINGi9606.ENSP00000384610

Structurei

3D structure databases

ProteinModelPortaliQ6ZV29
SMRiQ6ZV29
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini928 – 1094PNPLAPROSITE-ProRule annotationAdd BLAST167

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi932 – 937GXGXXGPROSITE-ProRule annotation6
Motifi959 – 963GXSXGPROSITE-ProRule annotation5
Motifi1081 – 1083DGA/GPROSITE-ProRule annotation3

Sequence similaritiesi

Belongs to the NTE family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2968 Eukaryota
COG0664 LUCA
COG1752 LUCA
GeneTreeiENSGT00390000002533
HOVERGENiHBG053067
InParanoidiQ6ZV29
KOiK14676
OrthoDBiEOG091G00XM
PhylomeDBiQ6ZV29
TreeFamiTF300519

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

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6ZV29-1) [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
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
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

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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

Note: No experimental confirmation available.
Show »
Length:1,342
Mass (Da):148,431
Checksum:iE56D9ADBE9D30BC1
GO

Sequence cautioni

The sequence BAB71033 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAI14579 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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
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:
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 Translation: CAI14579.1 Sequence problems.
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]
UniGeneiHs.294147

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPLPL7_HUMAN
AccessioniPrimary (citable) accession number: Q6ZV29
Secondary accession number(s): B5MDD3
, Q5T364, Q658X0, Q658Y3, Q6ZTS1, Q86YU8, Q8TAY5, Q96N75, Q9H7N5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: March 28, 2018
Last modified: July 18, 2018
This is version 130 of the entry and version 4 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 9
    Human chromosome 9: 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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