P80108 (PHLD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Phosphatidylinositol-glycan-specific phospholipase D
Short name=PI-G PLD
EC=3.1.4.50

Alternative name(s):
Glycoprotein phospholipase D
Glycosyl-phosphatidylinositol-specific phospholipase D
Short name=GPI-PLD
Short name=GPI-specific phospholipase D

Gene names

Name:	GPLD1
Synonyms:	PIGPLD1

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	840 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	This protein hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans (GPI-anchor) thus releasing these proteins from the membrane.
Catalytic activity	6-(alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + H2O = 6-(alpha-D-glucosaminyl)-1D-myo-inositol + phosphatidate.
Subunit structure	Monomer Potential.
Subcellular location	Secreted.
Sequence similarities	Belongs to the GPLD1 family. Contains 7 FG-GAP repeats.
Sequence caution	The sequence AAA36444.1 differs from that shown. Reason: This sequence has numerous of conflicts with the human genome.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Signal
Molecular function	Hydrolase
PTM	Glycoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Cellular component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	glycosylphosphatidylinositol phospholipase D activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P80108-1)

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: P80108-2)

The sequence of this isoform differs from the canonical sequence as follows:
     165-176: GDVLSQFEFNFN → TVYLHLLNFLVV
     177-840: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 23	23
	Chain	24 – 840	817	Phosphatidylinositol-glycan-specific phospholipase D		PRO_0000022047
Regions
	Repeat	367 – 428	62	FG-GAP 1
	Repeat	436 – 497	62	FG-GAP 2
	Repeat	499 – 559	61	FG-GAP 3
	Repeat	563 – 623	61	FG-GAP 4
	Repeat	633 – 693	61	FG-GAP 5
	Repeat	704 – 770	67	FG-GAP 6
	Repeat	788 – 840	53	FG-GAP 7
Amino acid modifications
	Glycosylation	94	1	N-linked (GlcNAc...) Ref.7
	Glycosylation	271	1	N-linked (GlcNAc...) Potential
	Glycosylation	292	1	N-linked (GlcNAc...) Potential
	Glycosylation	307	1	N-linked (GlcNAc...) Potential
	Glycosylation	321	1	N-linked (GlcNAc...) Potential
	Glycosylation	501	1	N-linked (GlcNAc...) Potential
	Glycosylation	568	1	N-linked (GlcNAc...) Potential
	Glycosylation	591	1	N-linked (GlcNAc...) Potential
	Glycosylation	604	1	N-linked (GlcNAc...) Potential
	Glycosylation	659	1	N-linked (GlcNAc...) Ref.8
Natural variations
	Alternative sequence	165 – 176	12	GDVLS…EFNFN → TVYLHLLNFLVV in isoform 2.		VSP_023261
	Alternative sequence	177 – 840	664	Missing in isoform 2.		VSP_023262
	Natural variant	17	1	L → V. Ref.5 Corresponds to variant rs2235501 [ dbSNP | Ensembl ].		VAR_030743
	Natural variant	30	1	V → I. Ref.1 Ref.2 Ref.5 Corresponds to variant rs1126617 [ dbSNP | Ensembl ].		VAR_030744
	Natural variant	275	1	D → E. Corresponds to variant rs17300770 [ dbSNP | Ensembl ].		VAR_030745
	Natural variant	350	1	I → V. Ref.1 Corresponds to variant rs1062496 [ dbSNP | Ensembl ].		VAR_051278
	Natural variant	396	1	G → S. Corresponds to variant rs6924628 [ dbSNP | Ensembl ].		VAR_030746
	Natural variant	461	1	V → M. Ref.1 Corresponds to variant rs1062505 [ dbSNP | Ensembl ].		VAR_030747
	Natural variant	694	1	M → V. Ref.2 Corresponds to variant rs1042303 [ dbSNP | Ensembl ].		VAR_030748
	Natural variant	698	1	T → I. Ref.1 Ref.2 Ref.3 Ref.5 Corresponds to variant rs1772256 [ dbSNP | Ensembl ].		VAR_030749
Experimental info
	Sequence conflict	531 – 534	4	VIGS → MLGT AA sequence Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 20, 2007. Version 3. Checksum: 11369BAFEC3D6D38	FASTA	840	92,336
	10 20 30 40 50 60 MSAFRLWPGL LIMLGSLCHR GSPCGLSTHV EIGHRALEFL QLHNGRVNYR ELLLEHQDAY 70 80 90 100 110 120 QAGIVFPDCF YPSICKGGKF HDVSESTHWT PFLNASVHYI RENYPLPWEK DTEKLVAFLF 130 140 150 160 170 180 GITSHMAADV SWHSLGLEQG FLRTMGAIDF HGSYSEAHSA GDFGGDVLSQ FEFNFNYLAR 190 200 210 220 230 240 RWYVPVKDLL GIYEKLYGRK VITENVIVDC SHIQFLEMYG EMLAVSKLYP TYSTKSPFLV 250 260 270 280 290 300 EQFQEYFLGG LDDMAFWSTN IYHLTSFMLE NGTSDCNLPE NPLFIACGGQ QNHTQGSKMQ 310 320 330 340 350 360 KNDFHRNLTT SLTESVDRNI NYTERGVFFS VNSWTPDSMS FIYKALERNI RTMFIGGSQL 370 380 390 400 410 420 SQKHVSSPLA SYFLSFPYAR LGWAMTSADL NQDGHGDLVV GAPGYSRPGH IHIGRVYLIY 430 440 450 460 470 480 GNDLGLPPVD LDLDKEAHRI LEGFQPSGRF GSALAVLDFN VDGVPDLAVG APSVGSEQLT 490 500 510 520 530 540 YKGAVYVYFG SKQGGMSSSP NITISCQDIY CNLGWTLLAA DVNGDSEPDL VIGSPFAPGG 550 560 570 580 590 600 GKQKGIVAAF YSGPSLSDKE KLNVEAANWT VRGEEDFSWF GYSLHGVTVD NRTLLLVGSP 610 620 630 640 650 660 TWKNASRLGH LLHIRDEKKS LGRVYGYFPP NGQSWFTISG DKAMGKLGTS LSSGHVLMNG 670 680 690 700 710 720 TLKQVLLVGA PTYDDVSKVA FLTVTLHQGG ATRMYALTSD AQPLLLSTFS GDRRFSRFGG 730 740 750 760 770 780 VLHLSDLDDD GLDEIIMAAP LRIADVTSGL IGGEDGRVYV YNGKETTLGD MTGKCKSWIT 790 800 810 820 830 840 PCPEEKAQYV LISPEASSRF GSSLITVRSK AKNQVVIAAG RSSLGARLSG ALHVYSLGSD
	Isoform 2 [UniParc]. Checksum: B71070D7DD58234B	FASTA	176	19,865
	10 20 30 40 50 60 MSAFRLWPGL LIMLGSLCHR GSPCGLSTHV EIGHRALEFL QLHNGRVNYR ELLLEHQDAY 70 80 90 100 110 120 QAGIVFPDCF YPSICKGGKF HDVSESTHWT PFLNASVHYI RENYPLPWEK DTEKLVAFLF 130 140 150 160 170 GITSHMAADV SWHSLGLEQG FLRTMGAIDF HGSYSEAHSA GDFGTVYLHL LNFLVV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation and expression of two human glycosylphosphatidylinositol phospholipase D (GPI-PLD) cDNAs." Tsang T.C., Fung W.-J.C., Levine J., Metz C.N., Davitz M.A., Burns D.K., Huang K.-S., Kochan J.P. FASEB J. 6:A1922-A1922(1992) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ILE-30; VAL-350; MET-461 AND ILE-698. Tissue: Liver and Pancreas.
[2]	"Structure and expression of the human glycosylphosphatidylinositol phospholipase D1 (GPLD1) gene." Schofield J.N., Rademacher T.W. Biochim. Biophys. Acta 1494:189-194(2000) [PubMed: 11072085] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 384-840, VARIANTS ILE-30; VAL-694 AND ILE-698. Tissue: Liver.
[3]	"Preliminary study of the gene structure of human glycosylphosphatidylinositol specific phospholipase D." Tang J.H., Gu S.L., Zhang X.J. Hunan Yi Ke Da Xue Xue Bao 26:96-97(2001) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ILE-698. Tissue: Bone marrow.
[4]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 266-840 (ISOFORM 1), VARIANTS VAL-17; ILE-30 AND ILE-698. Tissue: Eye and Liver.
[6]	"Phosphatidylinositol-glycan-specific phospholipase D is an amphiphilic glycoprotein that in serum is associated with high-density lipoproteins." Hoener M.C., Brodbeck U. Eur. J. Biochem. 206:747-757(1992) [PubMed: 1606959] [Abstract] Cited for: PARTIAL PROTEIN SEQUENCE. Tissue: Serum.
[7]	"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry." Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D. J. Proteome Res. 4:2070-2080(2005) [PubMed: 16335952] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-94, MASS SPECTROMETRY. Tissue: Plasma.
[8]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed: 19159218] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-659, MASS SPECTROMETRY. Tissue: Liver.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	L11701 mRNA. Translation: AAA36444.1. Sequence problems. L11702 mRNA. Translation: AAA36445.1. AJ308108 mRNA. Translation: CAC87068.1. AJ400872 , AJ400873, AJ400874, AJ400875, AJ400876 Genomic DNA. Translation: CAC14844.1. AY007546 mRNA. Translation: AAG16627.2. AL359713, AL031230 Genomic DNA. Translation: CAI17103.1. AL031230, AL359713 Genomic DNA. Translation: CAI22602.1. AL031230 Genomic DNA. Translation: CAD92520.1. BC007614 mRNA. Translation: AAH07614.1. BC020748 mRNA. Translation: AAH20748.1. BC093645 mRNA. Translation: AAH93645.1. BC112001 mRNA. Translation: AAI12002.1.
IPI	IPI00299503. IPI00376358.
RefSeq	NP_001494.2. NM_001503.2. NP_803436.1. NM_177483.1.
UniGene	Hs.533291.
3D structure databases
ProteinModelPortal	P80108.
SMR	P80108. Positions 374-600, 716-764.
ModBase	Search...
Protein-protein interaction databases
STRING	P80108.
PTM databases
PhosphoSite	P80108.
Polymorphism databases
DMDM	126302583.
Proteomic databases
PeptideAtlas	P80108.
PRIDE	P80108.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000230036; ENSP00000230036; ENSG00000112293.
GeneID	2822.
KEGG	hsa:2822.
UCSC	uc003ned.1. human. uc003nee.1. human.
Organism-specific databases
CTD	2822.
GeneCards	GC06M024377.
H-InvDB	HIX0032817.
HGNC	HGNC:4459. GPLD1.
HPA	CAB008625. HPA012500.
MIM	602515. gene.
neXtProt	NX_P80108.
PharmGKB	PA28842.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG17699.
GeneTree	ENSGT00390000013522.
HOVERGEN	HBG008185.
InParanoid	P80108.
OMA	GIVAAFY.
OrthoDB	EOG48SGSC.
Enzyme and pathway databases
BRENDA	3.1.4.50. 2681.
Gene expression databases
ArrayExpress	P80108.
Bgee	P80108.
Genevestigator	P80108.
GermOnline	ENSG00000112293. Homo sapiens.
Family and domain databases
InterPro	IPR013517. FG-GAP. IPR001028. Gprt_PLipase_D. IPR013519. Int_alpha_beta-p. [Graphical view]
KO	K01127.
Pfam	PF01839. FG-GAP. 3 hits. [Graphical view]
PRINTS	PR00718. PHPHLIPASED.
SMART	SM00191. Int_alpha. 5 hits. [Graphical view]
PROSITE	PS51470. FG_GAP. 7 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	11121.
SOURCE	Search...

Entry information

Entry name

PHLD_HUMAN

Accession

Primary (citable) accession number: P80108
Secondary accession number(s): Q15127 , Q15128, Q2M2F2, Q5T3Y0, Q7Z6T8, Q8TCV0, Q8WW82, Q96ID6, Q9H167, Q9H4M1, Q9UJC9

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
Last sequence update:	February 20, 2007
Last modified:	December 14, 2011
This is version 100 of the entry and version 3 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.