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PISD phosphatidylserine decarboxylase [ Homo sapiens (human) ]

Gene ID: 23761, updated on 5-Mar-2024

Summary

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Official Symbol
PISDprovided by HGNC
Official Full Name
phosphatidylserine decarboxylaseprovided by HGNC
Primary source
HGNC:HGNC:8999
See related
Ensembl:ENSG00000241878 MIM:612770; AllianceGenome:HGNC:8999
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PSD; LIBF; PSDC; PSSC; DJ858B16; dJ858B16.2
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]
Expression
Ubiquitous expression in placenta (RPKM 30.5), fat (RPKM 25.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
22q12.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (31618491..31662564, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (32082496..32126559, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (32014477..32058550, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18861 Neighboring gene SFI1 centrin binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18862 Neighboring gene H2A.Z histone pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 2577 Neighboring gene ribosomal protein S18 pseudogene 14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18863 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:31987010-31987819 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31988629-31989437 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32006104-32006750 Neighboring gene VISTA enhancer hs2240 Neighboring gene Sharpr-MPRA regulatory region 13794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32027367-32028054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18865 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:32042322-32043521 Neighboring gene microRNA 7109 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32056038-32056932 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:32057235-32058434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32060967-32061468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:32091023-32091524 Neighboring gene proline rich 14 like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32145128-32145760 Neighboring gene Sharpr-MPRA regulatory region 5994 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13638 Neighboring gene RNA, 7SL, cytoplasmic 20, pseudogene Neighboring gene DEP domain containing 5, GATOR1 subcomplex subunit

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Conditional targeting of phosphatidylserine decarboxylase to lipid droplets. Kumar S, et al. Biol Open, 2021 Mar 3. PMID 33593792, Free PMC Article
  2. PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. Zhao T, et al. Life Sci Alliance, 2019 Apr. PMID 30858161, Free PMC Article
  3. The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. Girisha KM, et al. Hum Mutat, 2019 Mar. PMID 30488656
  4. Phosphatidylserine decarboxylases, key enzymes of lipid metabolism. Schuiki I, et al. IUBMB Life, 2009 Feb. PMID 19165886
  5. High-throughput mass spectrometry screening for inhibitors of phosphatidylserine decarboxylase. Forbes CD, et al. J Biomol Screen, 2007 Aug. PMID 17478478

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Conditional targeting of phosphatidylserine decarboxylase to lipid droplets.
    Title: Conditional targeting of phosphatidylserine decarboxylase to lipid droplets.
  2. the biallelic hypomorphic PISD variant p.(Cys266Tyr) is associated with a novel Spondyloepimetaphyseal dysplasias form.
    Title: The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  4. High-throughput mass spectrometry screening for inhibitors of PISD is reported.
    Title: High-throughput mass spectrometry screening for inhibitors of phosphatidylserine decarboxylase.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Liberfarb syndrome
MedGen: C5394404 OMIM: 618889 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
EBI GWAS Catalog
Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.
EBI GWAS Catalog
Genome-wide association study of intelligence: additive effects of novel brain expressed genes.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp566G2246

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidylserine decarboxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylserine decarboxylase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in lipid droplet formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in phosphatidylethanolamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphatidylethanolamine biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in phosphatidylethanolamine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein autoprocessing IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in lipid droplet IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
phosphatidylserine decarboxylase proenzyme, mitochondrial
NP_001313340.1
NP_001313341.1
NP_001313342.1
NP_001313343.1
NP_001313344.1
NP_001313345.1
NP_001313346.1
NP_001313347.1
NP_001313348.1
NP_001313349.1
NP_001313350.1
NP_055153.1
NP_821141.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_050741.1 RefSeqGene

    Range
    5350..49074
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001326411.2 → NP_001313340.1  phosphatidylserine decarboxylase proenzyme, mitochondrial isoform a

    Status: REVIEWED

    Source sequence(s)
    AL031255, AL096768
    Consensus CDS
    CCDS87016.1
    UniProtKB/Swiss-Prot
    B1AKM7, O43207, O95535, Q6IC28, Q96GQ2, Q9UG56, Q9UGA9
    UniProtKB/TrEMBL
    H0Y7P7
    Related
    ENSP00000391739.2, ENST00000439502.7
    Conserved Domains (1) summary
    cl03656
    Location:151 → 407
    PS_Dcarbxylase; Phosphatidylserine decarboxylase

  2. NM_001326412.1 → NP_001313341.1  phosphatidylserine decarboxylase proenzyme, mitochondrial isoform b

    Status: REVIEWED

    Source sequence(s)
    AL031255, AL096768
    UniProtKB/TrEMBL
    H0Y7P7

  3. NM_001326413.2 → NP_001313342.1  phosphatidylserine decarboxylase proenzyme, mitochondrial isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) and variant 4 both encode the same isoform (c).
    Source sequence(s)
    AL031255, AL096768
    UniProtKB/TrEMBL
    B4DPS3
    Conserved Domains (1) summary
    cl03656
    Location:130 → 386
    PS_Dcarbxylase; Phosphatidylserine decarboxylase

  4. NM_001326414.2 → NP_001313343.1  phosphatidylserine decarboxylase proenzyme, mitochondrial isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) and variant 3 both encode the same isoform (c).
    Source sequence(s)
    AL031255, AL096768
    UniProtKB/TrEMBL
    B4DPS3
    Conserved Domains (1) summary
    cl03656
    Location:130 → 386
    PS_Dcarbxylase; Phosphatidylserine decarboxylase

  5. NM_001326415.2 → NP_001313344.1  phosphatidylserine decarboxylase proenzyme, mitochondrial isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 5, 6, 8, and 9, encodes isoform d.
    Source sequence(s)
    AL031255, AL096768
    Consensus CDS
    CCDS13899.1
    UniProtKB/TrEMBL
    B4DPS3
    Conserved Domains (1) summary
    cl27394
    Location:80 → 373
    PLN02964; phosphatidylserine decarboxylase

  6. NM_001326416.2 → NP_001313345.1  phosphatidylserine decarboxylase proenzyme, mitochondrial isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 5, 6, 7, and 9, encodes isoform d.
    Source sequence(s)
    AL031255, AL096768
    Consensus CDS
    CCDS13899.1
    UniProtKB/TrEMBL
    B4DPS3
    Conserved Domains (1) summary
    cl27394
    Location:80 → 373
    PLN02964; phosphatidylserine decarboxylase

  7. NM_001326417.2 → NP_001313346.1  phosphatidylserine decarboxylase proenzyme, mitochondrial isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 5, 6, 7, and 8, encodes isoform d.
    Source sequence(s)
    AL031255, AL096768
    Consensus CDS
    CCDS13899.1
    UniProtKB/TrEMBL
    B4DPS3
    Conserved Domains (1) summary
    cl27394
    Location:80 → 373
    PLN02964; phosphatidylserine decarboxylase

  8. NM_001326418.2 → NP_001313347.1  phosphatidylserine decarboxylase proenzyme, mitochondrial isoform e precursor

    Status: REVIEWED

    Source sequence(s)
    AL031255, AL096768
    UniProtKB/TrEMBL
    H0Y7P7

  9. NM_001326419.2 → NP_001313348.1  phosphatidylserine decarboxylase proenzyme, mitochondrial isoform f

    Status: REVIEWED

    Source sequence(s)
    AL031255, AL096768
    UniProtKB/TrEMBL
    B4DPS3

  10. NM_001326420.2 → NP_001313349.1  phosphatidylserine decarboxylase proenzyme, mitochondrial isoform g precursor

    Status: REVIEWED

    Source sequence(s)
    AL031255, AL096768
    UniProtKB/TrEMBL
    H0Y7P7

  11. NM_001326421.1 → NP_001313350.1  phosphatidylserine decarboxylase proenzyme, mitochondrial isoform h

    Status: REVIEWED

    Source sequence(s)
    AL031255, AL096768

  12. NM_014338.4 → NP_055153.1  phosphatidylserine decarboxylase proenzyme, mitochondrial isoform d

    See identical proteins and their annotated locations for NP_055153.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 6, 7, 8, and 9, encodes isoform d.
    Source sequence(s)
    AL096768, BC001482
    Consensus CDS
    CCDS13899.1
    UniProtKB/TrEMBL
    B4DPS3
    Related
    ENSP00000266095.5, ENST00000266095.9
    Conserved Domains (1) summary
    cl27394
    Location:80 → 373
    PLN02964; phosphatidylserine decarboxylase

  13. NM_178022.2 → NP_821141.1  phosphatidylserine decarboxylase proenzyme, mitochondrial isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 5, 7, 8, and 9, encodes isoform d.
    Source sequence(s)
    AL096768
    Consensus CDS
    CCDS13899.1
    UniProtKB/TrEMBL
    B4DPS3
    Conserved Domains (1) summary
    cl27394
    Location:80 → 373
    PLN02964; phosphatidylserine decarboxylase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    31618491..31662564 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    32082496..32126559 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UG56.4 GenPept UniProtKB/Swiss-Prot:Q9UG56

Gene LinkOut

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