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    PLSCR3 phospholipid scramblase 3 [ Homo sapiens (human) ]

    Gene ID: 57048, updated on 9-Dec-2024

    Summary

    Official Symbol
    PLSCR3provided by HGNC
    Official Full Name
    phospholipid scramblase 3provided by HGNC
    Primary source
    HGNC:HGNC:16495
    See related
    Ensembl:ENSG00000187838 MIM:607611; AllianceGenome:HGNC:16495
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables calcium-dependent protein binding activity; metal ion binding activity; and phospholipid scramblase activity. Involved in several processes, including apoptotic process; cardiolipin biosynthetic process; and regulation of release of cytochrome c from mitochondria. Located in cytosol; mitochondrion; and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 12.9), fat (RPKM 12.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PLSCR3 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7389727..7394525, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7293769..7298567, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7293046..7297844, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8113 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7258016-7258542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7258543-7259069 Neighboring gene potassium channel tetramerization domain containing 11 Neighboring gene transmembrane protein 95 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:7269638-7269860 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7283926-7284426 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8114 Neighboring gene tyrosine kinase non receptor 1 Neighboring gene TMEM256-PLSCR3 readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8116 Neighboring gene transmembrane protein 256 Neighboring gene neuroligin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7323127-7323646

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough TMEM256-PLSCR3

    Readthrough gene: TMEM256-PLSCR3, Included gene: TMEM256

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables calcium ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables calcium-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables lead ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables magnesium ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables mercury ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables phospholipid scramblase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phospholipid scramblase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables phospholipid scramblase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiolipin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glucose homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in plasma membrane phospholipid scrambling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in plasma membrane phospholipid scrambling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of release of cytochrome c from mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    phospholipid scramblase 3
    Names
    PL scramblase 3
    ca(2+)-dependent phospholipid scramblase 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001201576.2NP_001188505.1  phospholipid scramblase 3 isoform 1

      See identical proteins and their annotated locations for NP_001188505.1

      Status: VALIDATED

      Source sequence(s)
      AC113189
      Consensus CDS
      CCDS42253.1
      UniProtKB/Swiss-Prot
      A8K252, Q567U0, Q8NBW6, Q96F13, Q9NRY6
      UniProtKB/TrEMBL
      B2RBF8
      Related
      ENSP00000316021.11, ENST00000324822.15
      Conserved Domains (2) summary
      PRK05641
      Location:3171
      PRK05641; putative acetyl-CoA carboxylase biotin carboxyl carrier protein subunit; Validated
      pfam03803
      Location:62284
      Scramblase
    2. NM_001369407.1NP_001356336.1  phospholipid scramblase 3 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC113189
      Consensus CDS
      CCDS42253.1
      UniProtKB/Swiss-Prot
      A8K252, Q567U0, Q8NBW6, Q96F13, Q9NRY6
      UniProtKB/TrEMBL
      B2RBF8
      Related
      ENSP00000459019.1, ENST00000574401.5
      Conserved Domains (2) summary
      PRK05641
      Location:3171
      PRK05641; putative acetyl-CoA carboxylase biotin carboxyl carrier protein subunit; Validated
      pfam03803
      Location:62284
      Scramblase
    3. NM_001369420.1NP_001356349.1  phospholipid scramblase 3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC113189
      Conserved Domains (1) summary
      cl02043
      Location:62219
      LOR; LURP-one-related
    4. NM_001369421.1NP_001356350.1  phospholipid scramblase 3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC113189
      Conserved Domains (1) summary
      cl02043
      Location:1115
      LOR; LURP-one-related
    5. NM_001369422.1NP_001356351.1  phospholipid scramblase 3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC113189
      Conserved Domains (1) summary
      cl02043
      Location:1115
      LOR; LURP-one-related
    6. NM_020360.4NP_065093.2  phospholipid scramblase 3 isoform 1

      See identical proteins and their annotated locations for NP_065093.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC011735, BC093026
      Consensus CDS
      CCDS42253.1
      UniProtKB/Swiss-Prot
      A8K252, Q567U0, Q8NBW6, Q96F13, Q9NRY6
      UniProtKB/TrEMBL
      B2RBF8
      Related
      ENSP00000483743.2, ENST00000619711.5
      Conserved Domains (2) summary
      PRK05641
      Location:3171
      PRK05641; putative acetyl-CoA carboxylase biotin carboxyl carrier protein subunit; Validated
      pfam03803
      Location:62284
      Scramblase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7389727..7394525 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107299.1 Reference GRCh38.p14 PATCHES

      Range
      10184..14982 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7293769..7298567 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)