Q6ZV29 (PLPL7_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 83.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Patatin-like phospholipase domain-containing protein 7 EC=3.1.1.- | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1317 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Serine hydrolase, whose specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy By similarity. |
| Subcellular location | Membrane; Single-pass membrane protein Potential. Nucleus membrane; Single-pass membrane protein By similarity. Mitochondrion membrane; Single-pass membrane protein By similarity. Lysosome membrane; Single-pass membrane protein By similarity. Microsome membrane; Single-pass membrane protein By similarity. Note: Found in the nuclear, mitochondrial, lysosomal, and microsomal fractions By similarity. |
| Sequence similarities | Belongs to the NTE family. Contains 3 cyclic nucleotide-binding domains. Contains 1 patatin domain. |
| Sequence caution | The sequence BAB71033.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence CAI14579.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Endoplasmic reticulum Lysosome Membrane Microsome Mitochondrion Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Transmembrane Transmembrane helix |
| Molecular function | Hydrolase |
| PTM | Glycoprotein Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | lipid metabolic process Inferred from electronic annotation. Source: InterPro |
| Cellular_component | endoplasmic reticulum Inferred from electronic annotation. Source: UniProtKB-KW integral to membraneInferred from electronic annotation. Source: UniProtKB-KW lysosomal membraneInferred from electronic annotation. Source: UniProtKB-SubCell mitochondrial membraneInferred from electronic annotation. Source: UniProtKB-SubCell nuclear membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | hydrolase activity Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6ZV29-1) 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. | ||||||
| Isoform 2 (identifier: Q6ZV29-2) 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. | ||||||
| Isoform 3 (identifier: Q6ZV29-3) The sequence of this isoform differs from the canonical sequence as follows: 1191-1255: EVGYQHGRTVFDIWGRSGVLEKMLRDQQGPSKKPASAVLTCPNASFTDLAEIVSRIEPAKPAMVD → VP | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q6ZV29-4) The sequence of this isoform differs from the canonical sequence as follows: 1256-1268: DESDYQTEYEEEL → GEWRRKTKPWRRA 1269-1317: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q6ZV29-5) The sequence of this isoform differs from the canonical sequence as follows: 10-10: Q → QADFCLGTALHSWGLWFTEEGSPSTM | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1317 | 1317 | Patatin-like phospholipase domain-containing protein 7 | PRO_0000293489 | |||||
Regions | |||||||||
| Transmembrane | 13 – 33 | 21 | Helical; Potential | ||||||
| Domain | 928 – 1094 | 167 | Patatin | ||||||
| Nucleotide binding | 145 – 272 | 128 | cNMP 1 | ||||||
| Nucleotide binding | 458 – 580 | 123 | cNMP 2 | ||||||
| Nucleotide binding | 576 – 696 | 121 | cNMP 3 | ||||||
| Motif | 959 – 963 | 5 | GXSXG | ||||||
Sites | |||||||||
| Active site | 961 | 1 | By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 355 | 1 | Phosphoserine By similarity | ||||||
| Glycosylation | 728 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 975 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 1014 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 1233 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 10 | 1 | Q → QADFCLGTALHSWGLWFTEE GSPSTM in isoform 2 and isoform 5. | VSP_026500 | |||||
| Alternative sequence | 384 – 433 | 50 | GGPGS…STVSQ → ARVLCLLPQCLGGLPPTDTS VYSSASSDCCGCSMPVLCIM GHKPHVTVDT in isoform 2. | VSP_026501 | |||||
| Alternative sequence | 434 – 1317 | 884 | Missing in isoform 2. | VSP_026502 | |||||
| Alternative sequence | 1191 – 1255 | 65 | EVGYQ…PAMVD → VP in isoform 3. | VSP_026503 | |||||
| Alternative sequence | 1256 – 1268 | 13 | DESDY…YEEEL → GEWRRKTKPWRRA in isoform 4. | VSP_026504 | |||||
| Alternative sequence | 1269 – 1317 | 49 | Missing in isoform 4. | VSP_026505 | |||||
| Natural variant | 236 | 1 | R → H. Corresponds to variant rs12788 [ dbSNP | Ensembl ]. | VAR_061139 | |||||
| Natural variant | 286 | 1 | G → S. Corresponds to variant rs2298171 [ dbSNP | Ensembl ]. | VAR_055696 | |||||
| Natural variant | 323 | 1 | R → Q. Corresponds to variant rs11137410 [ dbSNP | Ensembl ]. | VAR_033060 | |||||
| Natural variant | 364 | 1 | Q → E. Corresponds to variant rs3750378 [ dbSNP | Ensembl ]. | VAR_033061 | |||||
| Natural variant | 368 | 1 | E → D. Corresponds to variant rs3750379 [ dbSNP | Ensembl ]. | VAR_033062 | |||||
| Natural variant | 387 | 1 | G → S. Corresponds to variant rs11791683 [ dbSNP | Ensembl ]. | VAR_060409 | |||||
| Natural variant | 803 | 1 | V → A. Ref.1 Ref.3 Ref.4 Corresponds to variant rs1891630 [ dbSNP | Ensembl ]. | VAR_033063 | |||||
| Natural variant | 824 | 1 | V → M. Corresponds to variant rs34938599 [ dbSNP | Ensembl ]. | VAR_033064 | |||||
| Natural variant | 908 | 1 | P → L. Ref.3 Corresponds to variant rs3812499 [ dbSNP | Ensembl ]. | VAR_033065 | |||||
| Natural variant | 993 | 1 | L → M. Corresponds to variant rs35177111 [ dbSNP | Ensembl ]. | VAR_033066 | |||||
| Natural variant | 1050 | 1 | D → N. Ref.1 Corresponds to variant rs4962237 [ dbSNP | Ensembl ]. | VAR_055697 | |||||
Experimental info | |||||||||
| Sequence conflict | 173 | 1 | F → L in BAC86509. Ref.1 | ||||||
| Sequence conflict | 326 | 1 | K → M in BAC86036. Ref.1 | ||||||
| Sequence conflict | 384 – 399 | 16 | Missing in BAC86509. Ref.1 | ||||||
| Sequence conflict | 403 – 473 | 71 | FLHSD…SLLDG → LCLLPQCLGGLPPTDTSVYS SASSDCCGCSMPVLCIMGHK PHVTVDT in BAC86509. Ref.1 | ||||||
| Sequence conflict | 409 | 1 | H → D in BAC86036. Ref.1 | ||||||
| Sequence conflict | 874 | 1 | W → S in BAB71033. Ref.1 | ||||||
| Sequence conflict | 892 – 896 | 5 | SLPKL → RLLPQ in BAC56931. Ref.1 | ||||||
| Sequence conflict | 1016 – 1027 | 12 | SIFSV…DQQIE → WERAHLSPVRPQ in BAB15733. Ref.1 | ||||||
| Sequence conflict | 1027 | 1 | E → EQ in CAH56483. Ref.4 | ||||||
| Sequence conflict | 1055 | 1 | W → R in BAB15733. Ref.1 | ||||||
| Sequence conflict | 1055 | 1 | W → R in BAB71033. Ref.1 | ||||||
| Sequence conflict | 1055 | 1 | W → R in BAC56931. Ref.1 | ||||||
| Sequence conflict | 1055 | 1 | W → R in BAC86036. Ref.1 | ||||||
| Sequence conflict | 1055 | 1 | W → R in AAH25663. Ref.3 | ||||||
| Sequence conflict | 1055 | 1 | W → R in CAH56322. Ref.4 | ||||||
| Sequence conflict | 1055 | 1 | W → R in CAH56483. Ref.4 | ||||||
| Sequence conflict | 1140 | 1 | V → VV in CAH56483. Ref.4 | ||||||
Sequences
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References
| [1] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1016-1268 (ISOFORM 4), VARIANTS ALA-803 AND ASN-1050. Tissue: Liver, Spleen, Thalamus and Trachea. |
| [2] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 688-1317 (ISOFORM 1), VARIANTS ALA-803 AND LEU-908. Tissue: Brain. |
| [4] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 721-1317 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 897-1317 (ISOFORM 3), VARIANT ALA-803. Tissue: Lymph node and Stomach. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00394981. IPI00445250. IPI00470404. IPI00796247. IPI00852921. |
| RefSeq | NP_001092007.1. NM_001098537.1. NP_689499.3. NM_152286.3. |
| UniGene | Hs.294147. |
3D structure databases | |
| ProteinModelPortal | Q6ZV29. |
| SMR | Q6ZV29. Positions 410-661. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q6ZV29. |
Polymorphism databases | |
| DMDM | 296452996. |
Proteomic databases | |
| PaxDb | Q6ZV29. |
| PRIDE | Q6ZV29. |
Protocols and materials databases | |
| DNASU | 375775. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000277531; ENSP00000277531; ENSG00000130653. ENST00000371457; ENSP00000360512; ENSG00000130653. ENST00000406427; ENSP00000384610; ENSG00000130653. |
| GeneID | 375775. |
| KEGG | hsa:375775. |
| UCSC | uc004cnf.2. human. uc010ncj.1. human. |
Organism-specific databases | |
| CTD | 375775. |
| GeneCards | GC09M140354. |
| H-InvDB | HIX0201358. |
| HGNC | HGNC:24768. PNPLA7. |
| HPA | HPA009130. |
| MIM | 612122. gene. |
| neXtProt | NX_Q6ZV29. |
| PharmGKB | PA134935962. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0664. |
| HOVERGEN | HBG053067. |
| InParanoid | Q6ZV29. |
| KO | K14676. |
| OMA | MACDRAR. |
| PhylomeDB | Q6ZV29. |
Gene expression databases | |
| ArrayExpress | Q6ZV29. |
| Bgee | Q6ZV29. |
| Genevestigator | Q6ZV29. |
Family and domain databases | |
| Gene3D | 2.60.120.10. 3 hits. |
| InterPro | IPR016035. Acyl_Trfase/lysoPLipase. IPR018490. cNMP-bd-like. IPR000595. cNMP-bd_dom. IPR002641. Patatin/PLipase_A2-rel. IPR014710. RmlC-like_jellyroll. [Graphical view] |
| Pfam | PF00027. cNMP_binding. 3 hits. PF01734. Patatin. 1 hit. [Graphical view] |
| SMART | SM00100. cNMP. 3 hits. [Graphical view] |
| SUPFAM | SSF52151. Acyl_Trfase/lysoPlipase. 1 hit. SSF51206. cNMP_binding. 3 hits. |
| PROSITE | PS00888. CNMP_BINDING_1. False negative. PS00889. CNMP_BINDING_2. False negative. PS50042. CNMP_BINDING_3. 3 hits. PS01237. UPF0028. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | PNPLA7. human. |
| GenomeRNAi | 375775. |
| NextBio | 100611. |
| SOURCE | Search... |
Entry information
| Entry name | PLPL7_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6ZV29 Secondary accession number(s): B5MDD3 Q9H7N5 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
