PISD - phosphatidylserine decarboxylase Gene

Homo sapiens

Also known as PSD; LIBF; PSDC; PSSC; DJ858B16; dJ858B16.2

Gene ID: 23761 | Gene type: protein coding

About PISD

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:31,618,491-31,662,564 (from NCBI)

This gene has 17 transcripts (splice variants), 201 orthologues and is associated with 2 phenotypes. Ubiquitous expression in placenta (RPKM 30.5), fat (RPKM 25.3) and 25 other tissues.

Summary

The protein encoded by this gene catalyzes the conversion of phosphatidylserine to phosphatidylethanolamine in the inner mitochondrial membrane. The encoded protein is active in phospholipid metabolism and interorganelle trafficking of phosphatidylserine. [provided by RefSeq, May 2016]

PISD Products(13)

mRNA	Protein	Name
NM_001326411.2	NP_001313340.1	phosphatidylserine decarboxylase proenzyme, mitochondrial isoform a
NM_001326412.1	NP_001313341.1	phosphatidylserine decarboxylase proenzyme, mitochondrial isoform b
NM_001326413.2	NP_001313342.1	phosphatidylserine decarboxylase proenzyme, mitochondrial isoform c
NM_001326414.2	NP_001313343.1	phosphatidylserine decarboxylase proenzyme, mitochondrial isoform c
NM_001326415.2	NP_001313344.1	phosphatidylserine decarboxylase proenzyme, mitochondrial isoform d
NM_001326416.2	NP_001313345.1	phosphatidylserine decarboxylase proenzyme, mitochondrial isoform d
NM_001326417.2	NP_001313346.1	phosphatidylserine decarboxylase proenzyme, mitochondrial isoform d
NM_001326418.2	NP_001313347.1	phosphatidylserine decarboxylase proenzyme, mitochondrial isoform e precursor
NM_001326419.2	NP_001313348.1	phosphatidylserine decarboxylase proenzyme, mitochondrial isoform f
NM_001326420.2	NP_001313349.1	phosphatidylserine decarboxylase proenzyme, mitochondrial isoform g precursor
NM_001326421.1	NP_001313350.1	phosphatidylserine decarboxylase proenzyme, mitochondrial isoform h
NM_014338.4	NP_055153.1	phosphatidylserine decarboxylase proenzyme, mitochondrial isoform d
NM_178022.2	NP_821141.1	phosphatidylserine decarboxylase proenzyme, mitochondrial isoform d

PISD Protein Structure

PS_Dcarbxylase

0
100
200
300
409 a.a.

Protein Preferred Names

Protein Names

phosphatidylserine decarboxylase proenzyme, mitochondrial

Related Diseases

Diseases

Alias

Liberfarb Syndrome

LIBF	Spondyloepimetaphyseal Dysplasia, Liberfarb Type
Semdlibf

Short Stature-Skeletal Dysplasia-Retinal Degeneration-Intellectual Disability-Sensorineural Hearing Loss Syndrome

Liberfarb Syndrome

Neuronopathy, Distal Hereditary Motor, Type Viia

HMN7A	Hmn Viia
Dhmn7a	Neuropathy, Distal Hereditary Motor, Type Viia
Dhmnvp	Harper-Young Myopathy
Distal Hereditary Motor Neuronopathy Type 7a	Distal Hereditary Motor Neuropathy Type Viia
Neuronopathy, Distal Hereditary Motor, Type 7a	Spinal Muscular Atrophy, Distal, With Vocal Cord Paralysis
Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7a	Harper-Young Myopath
Neuronopathy, Distal Hereditary Motor, 7a	Distal Hereditary Motor Neuronopathy Type Viia
Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis	Distal Spinal Muscular Atrophy With Vocal Cord Paralysis
Neuropathy, Motor, Distal, Hereditary, Type Viia

Lenz-Majewski Hyperostotic Dwarfism

Lenz-Majewski Syndrome	Lenz Majewski Hyperostotic Dwarfism
LMHD	Hyperostotic Dwarfism Lenz-Majewski Type
Lenz-Majewski Hyperostotic Dysplasia	Multiple Congenital Anomalies, Intellectual Disability And Progressive Skeletal Sclerosis
Lms

Retinal Degeneration

Degeneration Of Retina

Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly

Majewski Syndrome	SRTD6
Srps2a	Short Rib-Polydactyly Syndrome, Majewski Type
Polydactyly With Neonatal Chondrodystrophy, Type Ii	Short Rib-Polydactyly Syndrome Type Iia
Short Rib-Polydactyly Syndrome Type 2	Short Rib-Polydactyly Syndrome Type Ii
Short Rib-Polydactyly Syndrome, Type Ii	Srps, Type Ii
Short Rib-Polydactyly Syndrome, Type Iia	Polydactyly With Neonatal Chondrodystrophy Type 2
Srps Type 2	Short Rib-Polydactyly Syndrome Majewski Type
Polydactyly With Neonatal Chondrodystrophy Type Ii	Short Rib-Polydactyly Syndrome 2a
Srps Type Ii

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10573	PISD Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PISD	MGD	MGI:2445114
Felis catus	PISD	VGNC	VGNC:68866
Bos taurus	PISD	VGNC	VGNC:32917
Canis familiaris	PISD	VGNC	VGNC:44581
Macaca mulatta	PISD	VGNC	VGNC:76005
Rattus norvegicus	PISD	RGD	RGD:1596729