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PISD phosphatidylserine decarboxylase [ Homo sapiens (human) ]

Gene ID: 23761, updated on 12-Oct-2019

Summary

Official Symbol
PISDprovided by HGNC
Official Full Name
phosphatidylserine decarboxylaseprovided by HGNC
Primary source
HGNC:HGNC:8999
See related
Ensembl:ENSG00000241878 MIM:612770
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; 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

Genomic context

See PISD in Genome Data Viewer
Location:
22q12.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (31618491..31662564, complement)
105 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 SFI1 centrin binding protein Neighboring gene H2A.Z histone pseudogene 6 Neighboring gene ribosomal protein S18 pseudogene 14 Neighboring gene VISTA enhancer hs2240 Neighboring gene Sharpr-MPRA regulatory region 13794 Neighboring gene microRNA 7109 Neighboring gene proline rich 14 like Neighboring gene Sharpr-MPRA regulatory region 5994 Neighboring gene RNA, 7SL, cytoplasmic 20, pseudogene Neighboring gene DEP domain containing 5, GATOR1 subcomplex subunit

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp566G2246

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylserine decarboxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
phosphatidylethanolamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein autoprocessing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

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)

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
    5001..49074
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AL031255, AL096768
    Consensus CDS
    CCDS87016.1
    UniProtKB/Swiss-Prot
    Q9UG56
    Related
    ENSP00000391739.2, ENST00000439502.6
    Conserved Domains (1) summary
    cl03656
    Location:151407
    PS_Dcarbxylase; Phosphatidylserine decarboxylase
  2. NM_001326412.1NP_001313341.1  phosphatidylserine decarboxylase proenzyme, mitochondrial isoform b

    Status: REVIEWED

    Source sequence(s)
    AL031255, AL096768
  3. NM_001326413.2NP_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
    Conserved Domains (1) summary
    cl03656
    Location:130386
    PS_Dcarbxylase; Phosphatidylserine decarboxylase
  4. NM_001326414.2NP_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
    Conserved Domains (1) summary
    cl03656
    Location:130386
    PS_Dcarbxylase; Phosphatidylserine decarboxylase
  5. NM_001326415.2NP_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/Swiss-Prot
    Q9UG56
    UniProtKB/TrEMBL
    A0A024R1K5
    Conserved Domains (1) summary
    cl27394
    Location:80373
    PLN02964; phosphatidylserine decarboxylase
  6. NM_001326416.2NP_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/Swiss-Prot
    Q9UG56
    UniProtKB/TrEMBL
    A0A024R1K5
    Conserved Domains (1) summary
    cl27394
    Location:80373
    PLN02964; phosphatidylserine decarboxylase
  7. NM_001326417.2NP_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/Swiss-Prot
    Q9UG56
    UniProtKB/TrEMBL
    A0A024R1K5
    Conserved Domains (1) summary
    cl27394
    Location:80373
    PLN02964; phosphatidylserine decarboxylase
  8. NM_001326418.2NP_001313347.1  phosphatidylserine decarboxylase proenzyme, mitochondrial isoform e precursor

    Status: REVIEWED

    Source sequence(s)
    AL031255, AL096768
  9. NM_001326419.2NP_001313348.1  phosphatidylserine decarboxylase proenzyme, mitochondrial isoform f

    Status: REVIEWED

    Source sequence(s)
    AL031255, AL096768
  10. NM_001326420.2NP_001313349.1  phosphatidylserine decarboxylase proenzyme, mitochondrial isoform g precursor

    Status: REVIEWED

    Source sequence(s)
    AL031255, AL096768
  11. NM_001326421.1NP_001313350.1  phosphatidylserine decarboxylase proenzyme, mitochondrial isoform h

    Status: REVIEWED

    Source sequence(s)
    AL031255, AL096768
  12. NM_014338.3NP_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)
    BC001482
    Consensus CDS
    CCDS13899.1
    UniProtKB/Swiss-Prot
    Q9UG56
    UniProtKB/TrEMBL
    A0A024R1K5
    Related
    ENSP00000266095.5, ENST00000266095.9
    Conserved Domains (1) summary
    cl27394
    Location:80373
    PLN02964; phosphatidylserine decarboxylase
  13. NM_178022.2NP_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/Swiss-Prot
    Q9UG56
    UniProtKB/TrEMBL
    A0A024R1K5
    Conserved Domains (1) summary
    cl27394
    Location:80373
    PLN02964; phosphatidylserine decarboxylase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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