PLD3 - phospholipase D family member 3 Gene

Also Known as AD19; HUK4; HU-K4; SCA46

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23646

About PLD3

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:40,348,695-40,378,485 (from NCBI)

This gene has 48 transcripts (splice variants), 198 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 96.3), spleen (RPKM 74.5) and 25 other tissues.

Summary

This gene encodes a member of the Phospholipase D (PLD) family of Enzymes that catalyze the hydrolysis of membrane Phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]

PLD3 Products (3)

mRNA	Protein	Name
NM_001031696.4	NP_001026866.1	5'-3' exonuclease PLD3
NM_001291311.2	NP_001278240.1	5'-3' exonuclease PLD3
NM_012268.4	NP_036400.2	5'-3' exonuclease PLD3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20195357	GOA
enables single-stranded DNA 5'-3' DNA exonuclease activity	IDA IDA: Inferred from direct assay	30312375	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in myotube differentiation	IDA IDA: Inferred from direct assay	22428023	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi membrane	IDA IDA: Inferred from direct assay	29368044	GOA
located in early endosome membrane	IDA IDA: Inferred from direct assay	29386126	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15794758	GOA
located in late endosome membrane	IDA IDA: Inferred from direct assay	29386126	GOA
located in lysosomal lumen	IDA IDA: Inferred from direct assay	30312375	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLD3 Protein Structure

PLDc_3

0
100
200
300
400
490 a.a.

Protein Preferred Names	Protein Names
5'-3' exonuclease PLD3	choline phosphatase 3

PLD3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PLD3	Q8IV08	CNIH3	Homo sapiens	Q8TBE1	Validated Y2H	32296183
Intra	PLD3	Q8IV08	OPRM1	Homo sapiens	P35372-10	Y2H Prey Pooling	32296183
Intra	PLD3	Q8IV08	OPRM1	Homo sapiens	P35372-10	Y2H Array	32296183
Intra	PLD3	Q8IV08	NFKB1	Homo sapiens	P19838	TAP	20195357
Intra	PLD3	Q8IV08	NFKB1	Homo sapiens	P19838	Display Tech	20195357
Intra	PLD3	Q8IV08	SMCO4	Homo sapiens	Q9NRQ5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spinocerebellar Ataxia 46	SCA46 Spinocerebellar Ataxia, 46, Autosomal Dominant, With Sensory Axonal Neuropathy Spinocerebellar Ataxia Type 46
Acute Hemorrhagic Conjunctivitis	Viral Conjunctivitis Conjunctivitis, Acute Hemorrhagic Apollo Disease Epidemic Hemorrhagic Conjunctivitis Viral Conjunctiva Disorder Viral Conjunctivitis Nos
Shipyard Eye	Epidemic Keratoconjunctivitis Ekc
Conjunctival Folliculosis	Acute Follicular Conjunctivitis
Acute Conjunctivitis
Cerebellar Ataxia Type 41	Sca41
Nephrotic Syndrome, Type 7	Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 7 NPHS7 Nephrotic Syndrome Type 7 Ig-Mediated Membranoproliferative Glomerulonephritis Ig-Mediated Mpgn Immunoglobulin-Mediated Mpgn Nephrotic Syndrome, Type 7, With Membranoproliferative Glomerulonephritis Hemolytic Uremic Syndrome, Atypical 7 Nephrotic Syndrome Type 7 With Membranoptoliferative Glomerulonephritis Hemolytic Uremic Syndrome With Dgke Deficiency Hus With Dgke Deficiency Hemolytic Uremic Syndrome Atypical 7 AHUS7 Nephrotic Syndrome 7 Nephrotic Syndrome Type 7 With Membranoproliferative Glomerulonephritis
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Spinocerebellar Ataxia, Autosomal Recessive 21	SCAR21 Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome Spinocerebellar Ataxia, Autosomal Recessive 21, With Hepatopathy Cholestasis, Low Ggt, Acute Liver Failure, And Neurodegeneration Syndrome Calfan Autosomal Recessive Spinocerebellar Ataxia 21 Autosomal Recessive Spinocerebellar Ataxia 21 With Hepatopathy Autosomal Recessive Spinocerebellar Ataxia Type 21 Spinocerebellar Ataxia, Autosomal Recessive, 21 Calfan Syndrome
Spinocerebellar Ataxia, Autosomal Recessive 23	SCAR23 Autosomal Recessive Spinocerebellar Ataxia 23 Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency Autosomal Recessive Cerebellar Ataxia - Epilepsy - Intellectual Disability Syndrome Due To Tud Deficiency Spinocerebellar Ataxia Autosomal Recessive Type 23 Spinocerebellar Ataxia, Autosomal Recessive, 23 Ataxia, Spinocerebellar, Autosomal Recessive, Type 23
Cerebellar Ataxia Type 43	Sca43
Spinocerebellar Ataxia, Autosomal Recessive 24	SCAR24 Autosomal Recessive Spinocerebellar Ataxia 24 Spinocerebellar Ataxia, Autosomal Recessive, 24 Ataxia, Spinocerebellar, Autosomal Recessive, Type 24
Inclusion Conjunctivitis	Chlamydial Conjunctivitis Inclusion Blennorrhoea Paratrachoma Adult Inclusion Conjunctivitis Inclusion Blenorrhea Conjunctivitis, Inclusion Neonatal Chlamydial Conjunctivitis Inclusion Conjunctivitis Of The Adult Chronic Conjunctivitis Due To Chlamydia Trachomatis Inclusion Conjunctivitis Due To Chlamydia Trachomatis Acute Follicular Conjunctivitis, Chlamydial Adult Chlamydial Keratoconjunctivitis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10672	PLD3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20795	Pld3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27309	Pld3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PLD3	RGD	RGD:1308248
Canis familiaris	PLD3	VGNC	VGNC:44662
Macaca mulatta	PLD3	VGNC	VGNC:76041
Bos taurus	PLD3	VGNC	VGNC:32997
Mus musculus	PLD3	MGD	MGI:1333782
Felis catus	PLD3	VGNC	VGNC:64213
Others	PLD3	NCBI