Phospholipase D1 (PLD1)

The protein contains 1074 amino acids for an estimated molecular weight of 124184 Da.

 

Function as phospholipase selective for phosphatidylcholine (PubMed:8530346, PubMed:9582313). Implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis. May be involved in the regulation of perinuclear intravesicular membrane traffic (By similarity). (updated: Feb. 10, 2021)

Protein identification was indicated in the following studies:

  1. Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
  2. D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
  3. Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.

Methods

The following articles were analysed to gather the proteome content of erythrocytes.

The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.

PublicationIdentification 1Uniprot mapping 2Not mapped /
Obsolete		TrEMBLSwiss-Prot
Goodman (2013)2289 (gene list)227853205992269
Lange (2014)123412347281224
Hegedus (2015)2638262202352387
Wilson (2016)165815281702911068
d'Alessandro (2017)18261817201815
Bryk (2017)20902060101081942
Chu (2018)18531804553621387

1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry

The compilation of older studies can be retrieved from the Red Blood Cell Collection database.

The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.

No sequence conservation computed yet.
Protein sequence (FASTA)
Protein coevolution profile (FreeContact)
Multiple Sequence Alignment (Muscle)

This protein is annotated as membranous in Gene Ontology.


Interpro domains
Total structural coverage: 0%
Model score: 0
No model available.

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VariantDescription
dbSNP:rs9819927
CVDD
dbSNP:rs2290480
dbSNP:rs2287579
dbSNP:rs9827333

The reference OMIM entry for this protein is 212093

Cardiac valvular defect, developmental

Bendon et al. (1987) described a male infant who died at age 2.5 months after surgery for replacement of the mitral valve for mitral stenosis. Tricuspid regurgitation was also present and both atrioventricular valves were thickened. The infant also had nonobstructive right hydronephrosis and hydroureter and a urethral diverticulum. At the age of 2 months he had undergone bilateral inguinal herniorrhaphies prompted by an incarcerated inguinal hernia. The mother of the patient had earlier had a first-trimester spontaneous abortion. A third pregnancy resulted in an induced delivery of a dead male infant at 24 weeks of gestation. Thickening of the atrioventricular valves was found. In a fourth pregnancy, fetal hydrops was detected ultrasonographically at 22 weeks and fetal death at 25 weeks. The fetus showed thickened tricuspid leaflets that were partially bound to the wall below the annulus, and irregular thickening of the mitral valve with a parachute configuration. ... More on the omim web site

Subscribe to this protein entry history

Feb. 16, 2021: Protein entry updated
Automatic update: Entry updated from uniprot information.

Nov. 17, 2018: Protein entry updated
Automatic update: OMIM entry 212093 was added.

Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).