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Q6ZV29 (PLPL7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Patatin-like phospholipase domain-containing protein 7

EC=3.1.1.-
Gene names
Name:PNPLA7
Synonyms:C9orf111
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1317 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13171317Patatin-like phospholipase domain-containing protein 7
PRO_0000293489

Regions

Transmembrane13 – 3321Helical; Potential
Domain928 – 1094167Patatin
Nucleotide binding145 – 272128cNMP 1
Nucleotide binding458 – 580123cNMP 2
Nucleotide binding576 – 696121cNMP 3
Motif959 – 9635GXSXG

Sites

Active site9611 By similarity

Amino acid modifications

Glycosylation7281N-linked (GlcNAc...) Potential
Glycosylation9751N-linked (GlcNAc...) Potential
Glycosylation10141N-linked (GlcNAc...) Potential
Glycosylation12331N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence101Q → QADFCLGTALHSWGLWFTEE GSPSTM in isoform 2 and isoform 5.
VSP_026500
Alternative sequence384 – 43350GGPGS…STVSQ → ARVLCLLPQCLGGLPPTDTS VYSSASSDCCGCSMPVLCIM GHKPHVTVDT in isoform 2.
VSP_026501
Alternative sequence434 – 1317884Missing in isoform 2.
VSP_026502
Alternative sequence1191 – 125565EVGYQ…PAMVD → VP in isoform 3.
VSP_026503
Alternative sequence1256 – 126813DESDY…YEEEL → GEWRRKTKPWRRA in isoform 4.
VSP_026504
Alternative sequence1269 – 131749Missing in isoform 4.
VSP_026505
Natural variant2361R → H.
Corresponds to variant rs12788 [ dbSNP | Ensembl ].
VAR_061139
Natural variant2861G → S.
Corresponds to variant rs2298171 [ dbSNP | Ensembl ].
VAR_055696
Natural variant3231R → Q.
Corresponds to variant rs11137410 [ dbSNP | Ensembl ].
VAR_033060
Natural variant3641Q → E.
Corresponds to variant rs3750378 [ dbSNP | Ensembl ].
VAR_033061
Natural variant3681E → D.
Corresponds to variant rs3750379 [ dbSNP | Ensembl ].
VAR_033062
Natural variant3871G → S.
Corresponds to variant rs11791683 [ dbSNP | Ensembl ].
VAR_060409
Natural variant8031V → A. Ref.1 Ref.3 Ref.4
Corresponds to variant rs1891630 [ dbSNP | Ensembl ].
VAR_033063
Natural variant8241V → M.
Corresponds to variant rs34938599 [ dbSNP | Ensembl ].
VAR_033064
Natural variant9081P → L. Ref.3
Corresponds to variant rs3812499 [ dbSNP | Ensembl ].
VAR_033065
Natural variant9931L → M.
Corresponds to variant rs35177111 [ dbSNP | Ensembl ].
VAR_033066
Natural variant10501D → N. Ref.1
Corresponds to variant rs4962237 [ dbSNP | Ensembl ].
VAR_055697

Experimental info

Sequence conflict1731F → L in BAC86509. Ref.1
Sequence conflict3261K → M in BAC86036. Ref.1
Sequence conflict384 – 39916Missing in BAC86509. Ref.1
Sequence conflict403 – 47371FLHSD…SLLDG → LCLLPQCLGGLPPTDTSVYS SASSDCCGCSMPVLCIMGHK PHVTVDT in BAC86509. Ref.1
Sequence conflict4091H → D in BAC86036. Ref.1
Sequence conflict8741W → S in BAB71033. Ref.1
Sequence conflict892 – 8965SLPKL → RLLPQ in BAC56931. Ref.1
Sequence conflict1016 – 102712SIFSV…DQQIE → WERAHLSPVRPQ in BAB15733. Ref.1
Sequence conflict10271E → EQ in CAH56483. Ref.4
Sequence conflict10551W → R in BAB15733. Ref.1
Sequence conflict10551W → R in BAB71033. Ref.1
Sequence conflict10551W → R in BAC56931. Ref.1
Sequence conflict10551W → R in BAC86036. Ref.1
Sequence conflict10551W → R in AAH25663. Ref.3
Sequence conflict10551W → R in CAH56322. Ref.4
Sequence conflict10551W → R in CAH56483. Ref.4
Sequence conflict11401V → VV in CAH56483. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 3C0DF9776006F349

FASTA1,317145,733
        10         20         30         40         50         60 
MEEEKDDSPQ LTGIAVGALL ALALVGVLIL FMFRRLRQFR QAQPTPQYRF RKRDKVMFYG 

        70         80         90        100        110        120 
RKIMRKVTTL PNTLVENTAL PRQRARKRTK VLSLAKRILR FKKEYPALQP KEPPPSLLEA 

       130        140        150        160        170        180 
DLTEFDVKNS HLPSEVLYML KNVRVLGHFE KPLFLELCKH IVFVQLQEGE HVFQPREPDP 

       190        200        210        220        230        240 
SICVVQDGRL EVCIQDTDGT EVVVKEVLAG DSVHSLLSIL DIITGHAAPY KTVSVRAAIP 

       250        260        270        280        290        300 
STILRLPAAA FHGVFEKYPE TLVRVVQIIM VRLQRVTFLA LHNYLGLTTE LFNAESQAIP 

       310        320        330        340        350        360 
LVSVASVAAG KAKKQVFYGE EERLKKPPRL QESCDSDHGG GRPAAAGPLL KRSHSVPAPS 

       370        380        390        400        410        420 
IRKQILEELE KPGAGDPDPS APQGGPGSAT SDLGMACDRA RVFLHSDEHP GSSVASKSRK 

       430        440        450        460        470        480 
SVMVAEIPST VSQHSESHTD ETLASRKSDA IFRAAKKDLL TLMKLEDSSL LDGRVALLHV 

       490        500        510        520        530        540 
PAGTVVSRQG DQDASILFVV SGLLHVYQRK IGSQEDTCLF LTRPGEMVGQ LAVLTGEPLI 

       550        560        570        580        590        600 
FTVKANRDCS FLSISKAHFY EIMRKQPTVV LGVAHTVVKR MSSFVRQIDF ALDWVEVEAG 

       610        620        630        640        650        660 
RAIYRQGDKS DCTYIMLSGR LRSVIRKDDG KKRLAGEYGR GDLVGVVETL THQARATTVH 

       670        680        690        700        710        720 
AVRDSELAKL PAGALTSIKR RYPQVVTRLI HLLGEKILGS LQQGPVTGHQ LGLPTEGSKW 

       730        740        750        760        770        780 
DLGNPAVNLS TVAVMPVSEE VPLTAFALEL EHALSAIGPT LLLTSDNIKR RLGSAALDSV 

       790        800        810        820        830        840 
HEYRLSSWLG QQEDTHRIVL YQVDGTLTPW TQRCVRQADC ILIVGLGDQE PTVGELERML 

       850        860        870        880        890        900 
ESTAVRAQKQ LILLHREEGP APARTVEWLN MRSWCSGHLH LCCPRRVFSR RSLPKLVEMY 

       910        920        930        940        950        960 
KHVFQRPPDR HSDFSRLARV LTGNAIALVL GGGGARGCAQ VGVLKALAEC GIPVDMVGGT 

       970        980        990       1000       1010       1020 
SIGAFVGALY SEERNYSQMR IRAKQWAEGM TSLMKAALDL TYPITSMFSG AGFNSSIFSV 

      1030       1040       1050       1060       1070       1080 
FKDQQIEDLW IPYFAITTDI TASAMRVHTD GSLWWYVRAS MSLSGYMPPL CDPKDGHLLM 

      1090       1100       1110       1120       1130       1140 
DGGYINNLPA DVARSMGAKV VIAIDVGSRD ETDLTNYGDA LSGWWLLWKR WNPLATKVKV 

      1150       1160       1170       1180       1190       1200 
LNMAEIQTRL AYVCCVRQLE VVKSSDYCEY LRPPIDSYST LDFGKFNEIC EVGYQHGRTV 

      1210       1220       1230       1240       1250       1260 
FDIWGRSGVL EKMLRDQQGP SKKPASAVLT CPNASFTDLA EIVSRIEPAK PAMVDDESDY 

      1270       1280       1290       1300       1310 
QTEYEEELLD VPRDAYADFQ STSAQQGSDL EDESSLRHRH PSLAFPKLSE GSSDQDG 

« Hide

Isoform 2 [UniParc].

Checksum: 125B513AF8FA5CAC
Show »

FASTA45850,719
Isoform 3 [UniParc].

Checksum: 2A60F69C46051181
Show »

FASTA1,254138,848
Isoform 4 [UniParc].

Checksum: 1E4158DB3AC3BD63
Show »

FASTA1,268140,480
Isoform 5 [UniParc].

Checksum: E56D9FD160C30BC1
Show »

FASTA1,342148,459

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., 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.
RefSeqNP_001092007.2. NM_001098537.2. [Q6ZV29-5]
NP_689499.4. NM_152286.4. [Q6ZV29-1]
UniGeneHs.294147.

3D structure databases

ProteinModelPortalQ6ZV29.
SMRQ6ZV29. Positions 410-661.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ6ZV29.

Polymorphism databases

DMDM296452996.

Proteomic databases

MaxQBQ6ZV29.
PaxDbQ6ZV29.
PRIDEQ6ZV29.

Protocols and materials databases

DNASU375775.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000277531; ENSP00000277531; ENSG00000130653. [Q6ZV29-1]
ENST00000406427; ENSP00000384610; ENSG00000130653. [Q6ZV29-5]
GeneID375775.
KEGGhsa:375775.
UCSCuc004cnf.2. human. [Q6ZV29-1]
uc010ncj.1. human. [Q6ZV29-5]

Organism-specific databases

CTD375775.
GeneCardsGC09M140354.
H-InvDBHIX0201358.
HGNCHGNC:24768. PNPLA7.
HPAHPA009130.
MIM612122. gene.
neXtProtNX_Q6ZV29.
PharmGKBPA134935962.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0664.
HOVERGENHBG053067.
InParanoidQ6ZV29.
KOK14676.
OMAMACDRAR.
PhylomeDBQ6ZV29.
TreeFamTF300519.

Gene expression databases

ArrayExpressQ6ZV29.
BgeeQ6ZV29.
GenevestigatorQ6ZV29.

Family and domain databases

Gene3D2.60.120.10. 3 hits.
InterProIPR016035. Acyl_Trfase/lysoPLipase.
IPR018490. cNMP-bd-like.
IPR000595. cNMP-bd_dom.
IPR002641. Patatin/PLipase_A2-rel.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PfamPF00027. cNMP_binding. 3 hits.
PF01734. Patatin. 1 hit.
[Graphical view]
SMARTSM00100. cNMP. 3 hits.
[Graphical view]
SUPFAMSSF51206. SSF51206. 3 hits.
SSF52151. SSF52151. 1 hit.
PROSITEPS50042. CNMP_BINDING_3. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPNPLA7. human.
GenomeRNAi375775.
NextBio100611.
PROQ6ZV29.
SOURCESearch...

Entry information

Entry namePLPL7_HUMAN
AccessionPrimary (citable) accession number: Q6ZV29
Secondary accession number(s): B5MDD3 expand/collapse secondary AC list , Q5T364, Q658X0, Q658Y3, Q6ZTS1, Q86YU8, Q8TAY5, Q96N75, Q9H7N5
Entry history
Integrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 93 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM