1. Gene
  2. PISD - phosphatidylserine decarboxylase Gene

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

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

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