O60733 (PA2G6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
85 kDa calcium-independent phospholipase A2
Short name=CaI-PLA2
Short name=iPLA2
EC=3.1.1.4

Alternative name(s):
Group VI phospholipase A2
Short name=GVI PLA2

Gene names

Name:	PLA2G6
Synonyms:	IPLA2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	806 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Catalyzes the release of fatty acids from phospholipids. It has been implicated in normal phospholipid remodeling, nitric oxide-induced or vasopressin-induced arachidonic acid release and in leukotriene and prostaglandin production. May participate in fas mediated apoptosis and in regulating transmembrane ion flux in glucose-stimulated B-cells. Has a role in cardiolipin (CL) deacylation. Ref.11 Isoform ankyrin-iPLA2-1 and isoform ankyrin-iPLA2-2, which lack the catalytic domain, are probably involved in the negative regulation of iPLA2 activity. Ref.11
Catalytic activity	Phosphatidylcholine + H2O = 1-acylglycerophosphocholine + a carboxylate.
Subunit structure	Forms large oligomeric 270-350 kDa structures.
Subcellular location	Isoform LH-iPLA2: Membrane; Peripheral membrane protein. Isoform SH-iPLA2: Cytoplasm.
Tissue specificity	Four different transcripts were found to be expressed in a distinct tissue distribution.
Involvement in disease	Defects in PLA2G6 are the cause of neurodegeneration with brain iron accumulation type 2B (NBIA2B) [MIM:610217]. A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive extrapyramidal dysfunction leading to rigidity, dystonia, dysarthria and sensorimotor impairment. Ref.13 Defects in PLA2G6 are the cause of neurodegeneration with brain iron accumulation type 2A (NBIA2A) [MIM:256600]; also known as Seitelberger disease. NBIA2A is a neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years. Defects in PLA2G6 are the cause of Parkinson disease type 14 (PARK14) [MIM:612953]. An adult-onset progressive neurodegenerative disorder characterized by parkinsonism, dystonia, severe cognitive decline, cerebral and cerebellar atrophy and absent iron in the basal ganglia on magnetic resonance imaging. Ref.15
Pharmaceutical use	Potential target for therapeutic intervention of Barth syndrome.
Sequence similarities	Contains 7 ANK repeats.

Ontologies

Keywords
Biological process	Lipid degradation
Cellular component	Cytoplasm Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Dystonia Neurodegeneration Parkinsonism
Domain	ANK repeat Repeat
Molecular function	Hydrolase
PTM	Phosphoprotein
Technical term	Complete proteome Pharmaceutical Reference proteome
Gene Ontology (GO)
Biological process	cardiolipin biosynthetic process Inferred from mutant phenotype Ref.11. Source: UniProtKB cell death Inferred from electronic annotation. Source: UniProtKB-KW lipid catabolic process Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	centrosome Inferred from direct assay. Source: HPA membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform LH-iPLA2 (identifier: O60733-1)

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 SH-iPLA2 (identifier: O60733-2)

The sequence of this isoform differs from the canonical sequence as follows:
     396-450: LVTRKAILTLLRTVGAEYCFPPIHGVPAEQGSAAPHHPFSLERAQPPPISLNNLE → Q

Isoform Ankyrin-iPLA2-1 (identifier: O60733-3)

The sequence of this isoform differs from the canonical sequence as follows:
     477-479: HDH → CRT
     480-806: Missing.

Isoform Ankyrin-iPLA2-2 (identifier: O60733-4)

The sequence of this isoform differs from the canonical sequence as follows:
     71-142: Missing.
     450-499: ELQDLMHISR...GLIIIQLLIA → GSHPSQAGWW...READMQNLSP
     500-806: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 806	806	85 kDa calcium-independent phospholipase A2		PRO_0000067037
Regions
	Repeat	151 – 181	31	ANK 1
	Repeat	185 – 215	31	ANK 2
	Repeat	219 – 248	30	ANK 3
	Repeat	251 – 281	31	ANK 4
	Repeat	286 – 312	27	ANK 5
	Repeat	316 – 345	30	ANK 6
	Repeat	349 – 378	30	ANK 7
Sites
	Active site	519	1	Potential
Amino acid modifications
	Modified residue	587	1	Phosphothreonine By similarity
Natural variations
	Alternative sequence	71 – 142	72	Missing in isoform Ankyrin-iPLA2-2.		VSP_000277
	Alternative sequence	396 – 450	55	LVTRK…LNNLE → Q in isoform SH-iPLA2.		VSP_000278
	Alternative sequence	450 – 499	50	ELQDL…QLLIA → GSHPSQAGWWAWGAVSDGTT GSHAHLTGPEASVHPGLHEG READMQNLSP in isoform Ankyrin-iPLA2-2.		VSP_000279
	Alternative sequence	477 – 479	3	HDH → CRT in isoform Ankyrin-iPLA2-1.		VSP_000281
	Alternative sequence	480 – 806	327	Missing in isoform Ankyrin-iPLA2-1.		VSP_000282
	Alternative sequence	500 – 806	307	Missing in isoform Ankyrin-iPLA2-2.		VSP_000280
	Natural variant	58	1	V → I. Ref.6 Corresponds to variant rs11570605 [ dbSNP | Ensembl ].		VAR_018961
	Natural variant	63	1	R → G. Ref.6 Corresponds to variant rs11570606 [ dbSNP | Ensembl ].		VAR_018962
	Natural variant	70	1	R → Q. Ref.6 Corresponds to variant rs11570607 [ dbSNP | Ensembl ].		VAR_018963
	Natural variant	183	1	D → N. Ref.6 Corresponds to variant rs11570646 [ dbSNP | Ensembl ].		VAR_018964
	Natural variant	310	1	V → E in NBIA2A. Ref.13		VAR_029371
	Natural variant	343	1	A → T. Ref.6 Corresponds to variant rs11570680 [ dbSNP | Ensembl ].		VAR_018965
	Natural variant	545	1	K → T in NBIA2B. Ref.13		VAR_029372
	Natural variant	632	1	R → W in NBIA2B. Ref.13		VAR_029373
	Natural variant	691	1	Missing in NBIA2A.		VAR_029374
	Natural variant	741	1	R → Q in PARK14. Ref.15		VAR_062530
	Natural variant	747	1	R → W in PARK14. Ref.15		VAR_062531
	Natural variant	774	1	S → T. Corresponds to variant rs34184838 [ dbSNP | Ensembl ].		VAR_037903
Experimental info
	Sequence conflict	11	1	F → S in AAD30424. Ref.3
	Sequence conflict	64	1	N → D in AAD41722. Ref.2
	Sequence conflict	64	1	N → D in AAD41723. Ref.2
	Sequence conflict	579	1	K → I in AAD30424. Ref.3
	Sequence conflict	686	1	K → I in AAD30424. Ref.3
	Sequence conflict	801	1	Q → H in AAC97486. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform LH-iPLA2 [UniParc]. Last modified May 30, 2000. Version 2. Checksum: 8E55CD4EB9ACAD8B	FASTA	806	89,903
	10 20 30 40 50 60 MQFFGRLVNT FSGVTNLFSN PFRVKEVAVA DYTSSDRVRE EGQLILFQNT PNRTWDCVLV 70 80 90 100 110 120 NPRNSQSGFR LFQLELEADA LVNFHQYSSQ LLPFYESSPQ VLHTEVLQHL TDLIRNHPSW 130 140 150 160 170 180 SVAHLAVELG IRECFHHSRI ISCANCAENE EGCTPLHLAC RKGDGEILVE LVQYCHTQMD 190 200 210 220 230 240 VTDYKGETVF HYAVQGDNSQ VLQLLGRNAV AGLNQVNNQG LTPLHLACQL GKQEMVRVLL 250 260 270 280 290 300 LCNARCNIMG PNGYPIHSAM KFSQKGCAEM IISMDSSQIH SKDPRYGASP LHWAKNAEMA 310 320 330 340 350 360 RMLLKRGCNV NSTSSAGNTA LHVAVMRNRF DCAIVLLTHG ANADARGEHG NTPLHLAMSK 370 380 390 400 410 420 DNVEMIKALI VFGAEVDTPN DFGETPTFLA SKIGRLVTRK AILTLLRTVG AEYCFPPIHG 430 440 450 460 470 480 VPAEQGSAAP HHPFSLERAQ PPPISLNNLE LQDLMHISRA RKPAFILGSM RDEKRTHDHL 490 500 510 520 530 540 LCLDGGGVKG LIIIQLLIAI EKASGVATKD LFDWVAGTST GGILALAILH SKSMAYMRGM 550 560 570 580 590 600 YFRMKDEVFR GSRPYESGPL EEFLKREFGE HTKMTDVRKP KVMLTGTLSD RQPAELHLFR 610 620 630 640 650 660 NYDAPETVRE PRFNQNVNLR PPAQPSDQLV WRAARSSGAA PTYFRPNGRF LDGGLLANNP 670 680 690 700 710 720 TLDAMTEIHE YNQDLIRKGQ ANKVKKLSIV VSLGTGRSPQ VPVTCVDVFR PSNPWELAKT 730 740 750 760 770 780 VFGAKELGKM VVDCCTDPDG RAVDRARAWC EMVGIQYFRL NPQLGTDIML DEVSDTVLVN 790 800 ALWETEVYIY EHREEFQKLI QLLLSP
	Isoform SH-iPLA2 [UniParc]. Checksum: F1C46C9380332E1D	FASTA	752	84,093
	10 20 30 40 50 60 MQFFGRLVNT FSGVTNLFSN PFRVKEVAVA DYTSSDRVRE EGQLILFQNT PNRTWDCVLV 70 80 90 100 110 120 NPRNSQSGFR LFQLELEADA LVNFHQYSSQ LLPFYESSPQ VLHTEVLQHL TDLIRNHPSW 130 140 150 160 170 180 SVAHLAVELG IRECFHHSRI ISCANCAENE EGCTPLHLAC RKGDGEILVE LVQYCHTQMD 190 200 210 220 230 240 VTDYKGETVF HYAVQGDNSQ VLQLLGRNAV AGLNQVNNQG LTPLHLACQL GKQEMVRVLL 250 260 270 280 290 300 LCNARCNIMG PNGYPIHSAM KFSQKGCAEM IISMDSSQIH SKDPRYGASP LHWAKNAEMA 310 320 330 340 350 360 RMLLKRGCNV NSTSSAGNTA LHVAVMRNRF DCAIVLLTHG ANADARGEHG NTPLHLAMSK 370 380 390 400 410 420 DNVEMIKALI VFGAEVDTPN DFGETPTFLA SKIGRQLQDL MHISRARKPA FILGSMRDEK 430 440 450 460 470 480 RTHDHLLCLD GGGVKGLIII QLLIAIEKAS GVATKDLFDW VAGTSTGGIL ALAILHSKSM 490 500 510 520 530 540 AYMRGMYFRM KDEVFRGSRP YESGPLEEFL KREFGEHTKM TDVRKPKVML TGTLSDRQPA 550 560 570 580 590 600 ELHLFRNYDA PETVREPRFN QNVNLRPPAQ PSDQLVWRAA RSSGAAPTYF RPNGRFLDGG 610 620 630 640 650 660 LLANNPTLDA MTEIHEYNQD LIRKGQANKV KKLSIVVSLG TGRSPQVPVT CVDVFRPSNP 670 680 690 700 710 720 WELAKTVFGA KELGKMVVDC CTDPDGRAVD RARAWCEMVG IQYFRLNPQL GTDIMLDEVS 730 740 750 DTVLVNALWE TEVYIYEHRE EFQKLIQLLL SP
	Isoform Ankyrin-iPLA2-1 [UniParc]. Checksum: 2C849808049DD065	FASTA	479	53,216
	10 20 30 40 50 60 MQFFGRLVNT FSGVTNLFSN PFRVKEVAVA DYTSSDRVRE EGQLILFQNT PNRTWDCVLV 70 80 90 100 110 120 NPRNSQSGFR LFQLELEADA LVNFHQYSSQ LLPFYESSPQ VLHTEVLQHL TDLIRNHPSW 130 140 150 160 170 180 SVAHLAVELG IRECFHHSRI ISCANCAENE EGCTPLHLAC RKGDGEILVE LVQYCHTQMD 190 200 210 220 230 240 VTDYKGETVF HYAVQGDNSQ VLQLLGRNAV AGLNQVNNQG LTPLHLACQL GKQEMVRVLL 250 260 270 280 290 300 LCNARCNIMG PNGYPIHSAM KFSQKGCAEM IISMDSSQIH SKDPRYGASP LHWAKNAEMA 310 320 330 340 350 360 RMLLKRGCNV NSTSSAGNTA LHVAVMRNRF DCAIVLLTHG ANADARGEHG NTPLHLAMSK 370 380 390 400 410 420 DNVEMIKALI VFGAEVDTPN DFGETPTFLA SKIGRLVTRK AILTLLRTVG AEYCFPPIHG 430 440 450 460 470 VPAEQGSAAP HHPFSLERAQ PPPISLNNLE LQDLMHISRA RKPAFILGSM RDEKRTCRT
	Isoform Ankyrin-iPLA2-2 [UniParc]. Checksum: 52DAEBA2EDDC4C31	FASTA	427	46,484
	10 20 30 40 50 60 MQFFGRLVNT FSGVTNLFSN PFRVKEVAVA DYTSSDRVRE EGQLILFQNT PNRTWDCVLV 70 80 90 100 110 120 NPRNSQSGFR CANCAENEEG CTPLHLACRK GDGEILVELV QYCHTQMDVT DYKGETVFHY 130 140 150 160 170 180 AVQGDNSQVL QLLGRNAVAG LNQVNNQGLT PLHLACQLGK QEMVRVLLLC NARCNIMGPN 190 200 210 220 230 240 GYPIHSAMKF SQKGCAEMII SMDSSQIHSK DPRYGASPLH WAKNAEMARM LLKRGCNVNS 250 260 270 280 290 300 TSSAGNTALH VAVMRNRFDC AIVLLTHGAN ADARGEHGNT PLHLAMSKDN VEMIKALIVF 310 320 330 340 350 360 GAEVDTPNDF GETPTFLASK IGRLVTRKAI LTLLRTVGAE YCFPPIHGVP AEQGSAAPHH 370 380 390 400 410 420 PFSLERAQPP PISLNNLGSH PSQAGWWAWG AVSDGTTGSH AHLTGPEASV HPGLHEGREA DMQNLSP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Multiple splice variants of the human calcium-independent phospholipase A2 and their effect on enzyme activity." Larsson P.K.A., Claesson H.-E., Kennedy B.P. J. Biol. Chem. 273:207-214(1998) [PubMed: 9417066] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LH-IPLA2; ANKYRIN-IPLA2-1 AND ANKYRIN-IPLA2-2). Tissue: B-cell and Testis.
[2]	"Human pancreatic islets express mRNA species encoding two distinct catalytically active isoforms of group VI phospholipase A2 (iPLA2) that arise from an exon-skipping mechanism of alternative splicing of the transcript from the iPLA2 gene on chromosome 22q13.1." Ma Z., Wang X., Nowatzke W., Ramanadham S., Turk J. J. Biol. Chem. 274:9607-9616(1999) [PubMed: 10092647] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS LH-IPLA2 AND SH-IPLA2). Tissue: Pancreatic islet.
[3]	"The human calcium-independent phospholipase A2 gene. Multiple enzymes with distinct properties from a single gene." Larsson Forsell P.K.A., Kennedy B.P., Claesson H.-E. Eur. J. Biochem. 262:575-585(1999) [PubMed: 10336645] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING.
[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: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LH-IPLA2). Tissue: Testis.
[5]	"A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:R84.1-R84.11(2004) [PubMed: 15461802] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LH-IPLA2).
[6]	NIEHS SNPs program Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-58; GLY-63; GLN-70; ASN-183 AND THR-343.
[7]	"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. , 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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LH-IPLA2).
[8]	"The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H. Nature 402:489-495(1999) [PubMed: 10591208] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[10]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS LH-IPLA2 AND SH-IPLA2). Tissue: Brain.
[11]	"Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome." Malhotra A., Edelman-Novemsky I., Xu Y., Plesken H., Ma J., Schlame M., Ren M. Proc. Natl. Acad. Sci. U.S.A. 106:2337-2341(2009) [PubMed: 19164547] [Abstract] Cited for: FUNCTION, PHARMACEUTICAL USE.
[12]	"PLA2G6 mutation underlies infantile neuroaxonal dystrophy." Khateeb S., Flusser H., Ofir R., Shelef I., Narkis G., Vardi G., Shorer Z., Levy R., Galil A., Elbedour K., Birk O.S. Am. J. Hum. Genet. 79:942-948(2006) [PubMed: 17033970] [Abstract] Cited for: VARIANT NBIA2A VAL-691 DEL.
[13]	"PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron." Morgan N.V., Westaway S.K., Morton J.E., Gregory A., Gissen P., Sonek S., Cangul H., Coryell J., Canham N., Nardocci N., Zorzi G., Pasha S., Rodriguez D., Desguerre I., Mubaidin A., Bertini E., Trembath R.C., Simonati A. , Schanen C., Johnson C.A., Levinson B., Woods C.G., Wilmot B., Kramer P., Gitschier J., Maher E.R., Hayflick S.J. Nat. Genet. 38:752-754(2006) [PubMed: 16783378] [Abstract] Cited for: VARIANTS NBIA2B THR-545 AND TRP-632, VARIANTS NBIA2A GLU-310 AND VAL-691 DEL.
[14]	Erratum Morgan N.V., Westaway S.K., Morton J.E., Gregory A., Gissen P., Sonek S., Cangul H., Coryell J., Canham N., Nardocci N., Zorzi G., Pasha S., Rodriguez D., Desguerre I., Mubaidin A., Bertini E., Trembath R.C., Simonati A. , Schanen C., Johnson C.A., Levinson B., Woods C.G., Wilmot B., Kramer P., Gitschier J., Maher E.R., Hayflick S.J. Nat. Genet. 38:957-957(2006)
[15]	"Characterization of PLA2G6 as a locus for dystonia-parkinsonism." Paisan-Ruiz C., Bhatia K.P., Li A., Hernandez D., Davis M., Wood N.W., Hardy J., Houlden H., Singleton A., Schneider S.A. Ann. Neurol. 65:19-23(2009) [PubMed: 18570303] [Abstract] Cited for: VARIANTS PARK14 GLN-741 AND TRP-747.
+	Additional computationally mapped references.

Web resources

GeneReviews

NIEHS-SNPs

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF064594 mRNA. Translation: AAC97486.1. AF102988 mRNA. Translation: AAD41722.1. AF102989 mRNA. Translation: AAD41723.1. AF117692 , AF117677, AF117678, AF117679, AF117680, AF117681, AF117682, AF117683, AF117684, AF117685, AF117686, AF117687, AF117688, AF117689, AF117690, AF117691 Genomic DNA. Translation: AAD30424.1. AF116267 , AF116252, AF116253, AF116254, AF116255, AF116256, AF116257, AF116258, AF116259, AF116260, AF116261, AF116262, AF116263, AF116264, AF116265, AF116266 Genomic DNA. Translation: AAF34728.1. AL080187 mRNA. Translation: CAB45768.2. CR456543 mRNA. Translation: CAG30429.1. AY522921 Genomic DNA. Translation: AAR92478.1. AK291212 mRNA. Translation: BAF83901.1. AL022322 Genomic DNA. Translation: CAA18446.1. AL022322 Genomic DNA. Translation: CAQ10446.1. CH471095 Genomic DNA. Translation: EAW60219.1. CH471095 Genomic DNA. Translation: EAW60220.1. BC036742 mRNA. Translation: AAH36742.2. BC051904 mRNA. Translation: AAH51904.1.
IPI	IPI00031476. IPI00220207. IPI00220209. IPI00375455.
RefSeq	NP_001004426.1. NM_001004426.1. NP_001186491.1. NM_001199562.1. NP_003551.2. NM_003560.2.
UniGene	Hs.170479.
3D structure databases
ProteinModelPortal	O60733.
SMR	O60733. Positions 116-418.
ModBase	Search...
Protein-protein interaction databases
STRING	O60733.
PTM databases
PhosphoSite	O60733.
Proteomic databases
PRIDE	O60733.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000332509; ENSP00000333142; ENSG00000184381.
GeneID	8398.
KEGG	hsa:8398.
UCSC	uc003auy.1. human. uc003auz.1. human.
Organism-specific databases
CTD	8398.
GeneCards	GC22M038507.
H-InvDB	HIX0016464.
HGNC	HGNC:9039. PLA2G6.
HPA	HPA001171.
MIM	256600. phenotype. 603604. gene. 610217. phenotype. 612953. phenotype.
neXtProt	NX_O60733.
Orphanet	199351. Dystonia-parkinsonism, Paisan-Ruiz type. 35069. Infantile neuroaxonal dystrophy.
PharmGKB	PA33367.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG11587.
GeneTree	ENSGT00530000063645.
HOGENOM	HBG314710.
HOVERGEN	HBG053482.
InParanoid	O60733.
OMA	QLETEAD.
OrthoDB	EOG46Q6RW.
PhylomeDB	O60733.
Gene expression databases
ArrayExpress	O60733.
Bgee	O60733.
CleanEx	HS_PLA2G6.
Genevestigator	O60733.
GermOnline	ENSG00000184381. Homo sapiens.
Family and domain databases
InterPro	IPR016035. Acyl_Trfase/lysoPLipase. IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR002641. Patatin/PLipase_A2-rel. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 3 hits.
KO	K01047.
Pfam	PF00023. Ank. 3 hits. PF01734. Patatin. 1 hit. [Graphical view]
PRINTS	PR01415. ANKYRIN.
SMART	SM00248. ANK. 6 hits. [Graphical view]
SUPFAM	SSF52151. Acyl_Trfase/lysoPlipase. 1 hit. SSF48403. ANK. 1 hit.
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 4 hits. [Graphical view]
ProtoNet	Search...
Other
DrugBank	DB01103. Quinacrine.
NextBio	31428.
PMAP-CutDB	O60733.
SOURCE	Search...

Entry information

Entry name

PA2G6_HUMAN

Accession

Primary (citable) accession number: O60733
Secondary accession number(s): A8K597 , B0QYE8, O75645, Q8N452, Q9UG29, Q9UIT0, Q9Y671

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	May 30, 2000
Last modified:	January 25, 2012
This is version 117 of the entry and version 2 of the sequence. [Complete 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.