2. Gene
  3. PISD - phosphatidylserine decarboxylase Gene

PISD - phosphatidylserine decarboxylase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables phosphatidylserine decarboxylase activity IMP
IMP: Inferred from mutant phenotype
30858161 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence Reference Source
involved in lipid droplet formation IMP
IMP: Inferred from mutant phenotype
33593792 GOA
involved in mitochondrial protein catabolic process IMP
IMP: Inferred from mutant phenotype
30858161 GOA
involved in phosphatidylethanolamine biosynthetic process IMP
IMP: Inferred from mutant phenotype
30488656 GOA
involved in regulation of mitochondrion organization IMP
IMP: Inferred from mutant phenotype
30858161 GOA
Cellular Component GO Annotation Evidence Reference Source
located in lipid droplet IDA
IDA: Inferred from direct assay
33593792 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
30858161 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

PISD Protein Structure

PS_Dcarbxylase

PS_Dcarbxylase: Phosphatidylserine decarboxylase (165 - 407)

  • 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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10573 PISD Human Pre-designed siRNA Set A Pre-designed Sets / 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