PISD - phosphatidylserine decarboxylase Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23761

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 Verweise 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 Verweise 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 Verweise 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

Pre-clinical Phase

Bioactive Molecules (4)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS10573 PISD Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS12766 SFI1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22280 Pisd Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28803 Pisd Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others PISD NCBI