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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-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

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Lipid 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

HGNCiHGNC:24768. PNPLA7.

Subcellular locationi

Topology

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

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...)Sequence analysis1
Glycosylationi975N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1014N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1233N-linked (GlcNAc...)Sequence analysis1
Modified residuei1258PhosphoserineBy similarity1
Modified residuei1262PhosphothreonineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ6ZV29.
PaxDbiQ6ZV29.
PeptideAtlasiQ6ZV29.
PRIDEiQ6ZV29.

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. 1 interactor.
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
Contains 3 cyclic nucleotide-binding domains.PROSITE-ProRule annotation
Contains 1 PNPLA (patatin-like phospholipase) domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

Gene3Di2.60.120.10. 3 hits.
InterProiIPR016035. Acyl_Trfase/lysoPLipase.
IPR018490. cNMP-bd-like.
IPR000595. cNMP-bd_dom.
IPR002641. Patatin/PLipase_A2-rel.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PfamiPF00027. cNMP_binding. 3 hits.
PF01734. Patatin. 1 hit.
[Graphical view]
SMARTiSM00100. cNMP. 3 hits.
[Graphical view]
SUPFAMiSSF51206. SSF51206. 3 hits.
SSF52151. SSF52151. 1 hit.
PROSITEiPS50042. CNMP_BINDING_3. 3 hits.
PS51635. PNPLA. 1 hit.
[Graphical view]

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
YQVDGTLTPW 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):145,733
Last modified:May 18, 2010 - v3
Checksum:i3C0DF9776006F349
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.

Note: No experimental confirmation available.
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):138,848
Checksum:i2A60F69C46051181
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):140,480
Checksum:i1E4158DB3AC3BD63
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):148,459
Checksum:iE56D9FD160C30BC1
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 rs12788dbSNPEnsembl.1
Natural variantiVAR_055696286G → S.Corresponds to variant rs2298171dbSNPEnsembl.1
Natural variantiVAR_033060323R → Q.Corresponds to variant rs11137410dbSNPEnsembl.1
Natural variantiVAR_033061364Q → E.Corresponds to variant rs3750378dbSNPEnsembl.1
Natural variantiVAR_033062368E → D.Corresponds to variant rs3750379dbSNPEnsembl.1
Natural variantiVAR_060409387G → S.Corresponds to variant rs11791683dbSNPEnsembl.1
Natural variantiVAR_033063803V → A.3 PublicationsCorresponds to variant rs1891630dbSNPEnsembl.1
Natural variantiVAR_033064824V → M.Corresponds to variant rs34938599dbSNPEnsembl.1
Natural variantiVAR_033065908P → L.1 PublicationCorresponds to variant rs3812499dbSNPEnsembl.1
Natural variantiVAR_033066993L → M.Corresponds to variant rs35177111dbSNPEnsembl.1
Natural variantiVAR_0556971050D → N.1 PublicationCorresponds to variant rs4962237dbSNPEnsembl.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.
NP_689499.4. NM_152286.4.
UniGeneiHs.294147.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. 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.
NP_689499.4. NM_152286.4.
UniGeneiHs.294147.

3D structure databases

ProteinModelPortaliQ6ZV29.
SMRiQ6ZV29.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131999. 1 interactor.
STRINGi9606.ENSP00000384610.

PTM databases

iPTMnetiQ6ZV29.
PhosphoSitePlusiQ6ZV29.

Polymorphism and mutation databases

BioMutaiPNPLA7.
DMDMi296452996.

Proteomic databases

MaxQBiQ6ZV29.
PaxDbiQ6ZV29.
PeptideAtlasiQ6ZV29.
PRIDEiQ6ZV29.

Protocols and materials databases

DNASUi375775.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi375775.
GeneCardsiPNPLA7.
H-InvDBHIX0201358.
HGNCiHGNC:24768. PNPLA7.
HPAiHPA009130.
MIMi612122. gene.
neXtProtiNX_Q6ZV29.
PharmGKBiPA134935962.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-6814848. Glycerophospholipid catabolism.

Miscellaneous databases

ChiTaRSiPNPLA7. human.
GenomeRNAii375775.
PROiQ6ZV29.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130653.
ExpressionAtlasiQ6ZV29. baseline and differential.
GenevisibleiQ6ZV29. HS.

Family and domain databases

Gene3Di2.60.120.10. 3 hits.
InterProiIPR016035. Acyl_Trfase/lysoPLipase.
IPR018490. cNMP-bd-like.
IPR000595. cNMP-bd_dom.
IPR002641. Patatin/PLipase_A2-rel.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PfamiPF00027. cNMP_binding. 3 hits.
PF01734. Patatin. 1 hit.
[Graphical view]
SMARTiSM00100. cNMP. 3 hits.
[Graphical view]
SUPFAMiSSF51206. SSF51206. 3 hits.
SSF52151. SSF52151. 1 hit.
PROSITEiPS50042. CNMP_BINDING_3. 3 hits.
PS51635. PNPLA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPLPL7_HUMAN
AccessioniPrimary (citable) accession number: Q6ZV29
Secondary accession number(s): B5MDD3
, Q5T364, Q658X0, Q658Y3, Q6ZTS1, Q86YU8, Q8TAY5, Q96N75, Q9H7N5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 115 of the entry and version 3 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.