Skip Header

Contribute Send feedback
Read comments (?) or add your own

Q8N2A8 (PLD6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 68. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Mitochondrial cardiolipin hydrolase

EC=3.1.4.-
Alternative name(s):
Choline phosphatase 6
Mitochondrial phospholipase
Short name=MitoPLD
Phosphatidylcholine-hydrolyzing phospholipase D6
Phospholipase D6
Short name=PLD 6
Protein zucchini homolog
Gene names
Name:PLD6
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length252 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Cardiolipin hydrolase present at the mitochondrial outer membrane required both for mitochondrial fusion and piRNA metabolic process. Acts by catalyzing the hydrolysis of cardiolipin (diphosphatidylglycerol) to form phosphatidate (phosphatidic acid or PA) at the mitochondrial outer membrane surface, promoting mitochondrial fusion. The production of phosphatidate also regulates the piRNA metabolic process by promoting recruitment and/or activation of components of the meiotic nuage, also named P granule, a critical step for primary biogenesis of piRNAs. Required during spermatogenesis to repress transposable elements and prevent their mobilization via its role in the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Ref.4 Ref.6

Subunit structure

Homodimer. Ref.4

Subcellular location

Mitochondrion outer membrane; Single-pass membrane protein Ref.4.

Tissue specificity

Widely expressed. Expression is not limites to testis and ovary. Ref.5

Domain

In contrast to other members of the phospholipase D family, contains only one PLD phosphodiesterase domain, suggesting that it has a single half-catalytic and requires homodimerization to form a complete active site (Ref.4).

Sequence similarities

Belongs to the phospholipase D family. MitoPLD/Zucchini subfamily.

Contains 1 PLD phosphodiesterase domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 252252Mitochondrial cardiolipin hydrolase
PRO_0000325910

Regions

Topological domain1 – 44Mitochondrial intermembrane Potential
Transmembrane5 – 2723Helical; Potential
Topological domain28 – 252225Cytoplasmic Potential
Domain151 – 17828PLD phosphodiesterase

Sites

Active site1561 Probable
Active site1581 Potential
Active site1631 Potential

Natural variations

Natural variant421L → P. Ref.3
Corresponds to variant rs17856924 [ dbSNP | Ensembl ].
VAR_039951
Natural variant1081R → H. Ref.3
Corresponds to variant rs11551966 [ dbSNP | Ensembl ].
VAR_039952

Experimental info

Mutagenesis1561H → N: Abolishes cardiolipin hydrolase activity. Ref.4 Ref.6

Sequences

Sequence LengthMass (Da)Tools
Q8N2A8 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: CE3A205C1D42B497

FASTA25228,273
        10         20         30         40         50         60 
MGRLSWQVAA AAAVGLALTL EALPWVLRWL RSRRRRPRRE ALFFPSQVTC TEALLRAPGA 

        70         80         90        100        110        120 
ELAELPEGCP CGLPHGESAL SRLLRALLAA RASLDLCLFA FSSPQLGRAV QLLHQRGVRV 

       130        140        150        160        170        180 
RVVTDCDYMA LNGSQIGLLR KAGIQVRHDQ DPGYMHHKFA IVDKRVLITG SLNWTTQAIQ 

       190        200        210        220        230        240 
NNRENVLITE DDEYVRLFLE EFERIWEQFN PTKYTFFPPK KSHGSCAPPV SRAGGRLLSW 

       250 
HRTCGTSSES QT 

« Hide

References

« Hide 'large scale' 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: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Amygdala.
[2]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed: 16625196] [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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS PRO-42 AND HIS-108.
Tissue: Brain.
[4]"A common lipid links Mfn-mediated mitochondrial fusion and SNARE-regulated exocytosis."
Choi S.Y., Huang P., Jenkins G.M., Chan D.C., Schiller J., Frohman M.A.
Nat. Cell Biol. 8:1255-1262(2006) [PubMed: 17028579] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, SUBUNIT, MUTAGENESIS OF HIS-156.
[5]"MITOPLD is a mitochondrial protein essential for nuage formation and piRNA biogenesis in the mouse germline."
Watanabe T., Chuma S., Yamamoto Y., Kuramochi-Miyagawa S., Totoki Y., Toyoda A., Hoki Y., Fujiyama A., Shibata T., Sado T., Noce T., Nakano T., Nakatsuji N., Lin H., Sasaki H.
Dev. Cell 20:364-375(2011) [PubMed: 21397847] [Abstract]
Cited for: TISSUE SPECIFICITY.
[6]"piRNA-associated germline nuage formation and spermatogenesis require MitoPLD profusogenic mitochondrial-surface lipid signaling."
Huang H., Gao Q., Peng X., Choi S.Y., Sarma K., Ren H., Morris A.J., Frohman M.A.
Dev. Cell 20:376-387(2011) [PubMed: 21397848] [Abstract]
Cited for: FUNCTION, MUTAGENESIS OF HIS-156.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK090899 mRNA. Translation: BAC03541.1.
AC055811 Genomic DNA. No translation available.
BC031263 mRNA. Translation: AAH31263.1.
IPIIPI00251454.
RefSeqNP_849158.2. NM_178836.3.
UniGeneHs.729079.

3D structure databases

ProteinModelPortalQ8N2A8.
SMRQ8N2A8. Positions 77-213.
ModBaseSearch...

Protein-protein interaction databases

STRINGQ8N2A8.

Polymorphism databases

DMDM74728697.

Proteomic databases

PRIDEQ8N2A8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000321560; ENSP00000317177; ENSG00000179598.
GeneID201164.
KEGGhsa:201164.
UCSCuc002gqz.1. human.

Organism-specific databases

CTD201164.
GeneCardsGC17M017048.
HGNCHGNC:30447. PLD6.
neXtProtNX_Q8N2A8.
PharmGKBPA164724625.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG11656.
GeneTreeENSGT00390000004368.
HOGENOMHBG714389.
HOVERGENHBG108267.
InParanoidQ8N2A8.
OMAPRREVLF.
OrthoDBEOG402WTD.
PhylomeDBQ8N2A8.

Gene expression databases

ArrayExpressQ8N2A8.
BgeeQ8N2A8.
CleanExHS_PLD6.
GenevestigatorQ8N2A8.

Family and domain databases

InterProIPR001736. PLipase_D/transphosphatidylase.
[Graphical view]
SMARTSM00155. PLDc. 1 hit.
[Graphical view]
PROSITEPS50035. PLD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio90067.

Entry information

Entry namePLD6_HUMAN
AccessionPrimary (citable) accession number: Q8N2A8
Secondary accession number(s): Q8N5Y1
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: October 1, 2002
Last modified: January 25, 2012
This is version 68 of the entry and version 1 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

Human chromosome 17

Human chromosome 17: 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

SIMILARITY comments

Index of protein domains and families