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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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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