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    PLCXD1 phosphatidylinositol specific phospholipase C X domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 55344, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PLCXD1provided by HGNC
    Official Full Name
    phosphatidylinositol specific phospholipase C X domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:23148
    See related
    Ensembl:ENSG00000182378 Ensembl:ENSG00000292344 MIM:300974; AllianceGenome:HGNC:23148
    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
    LL0XNC01-136G2.1
    Summary
    This gene is the most terminal protein-coding gene in the pseudoautosomal (PAR) region on chromosomes X and Y. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
    Expression
    Ubiquitous expression in stomach (RPKM 5.3), skin (RPKM 4.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLCXD1 in Genome Data Viewer
    Location:
    X;Y
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (276356..303356)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (276356..303356)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (103482..131585)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (103034..130734)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (193023..220023)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (143023..170023)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:187587-188168 Neighboring gene GTP binding protein 6 (putative) Neighboring gene long intergenic non-protein coding RNA 685

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:187587-188168 Neighboring gene vegetative cell wall protein gp1-like Neighboring gene GTP binding protein 6 (putative) Neighboring gene long intergenic non-protein coding RNA 685

    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. The Eutherian Pseudoautosomal Region. Raudsepp T, et al. Cytogenet Genome Res, 2015. PMID 26730606
    2. About PAR: the distinct evolutionary dynamics of the pseudoautosomal region. Otto SP, et al. Trends Genet, 2011 Sep. PMID 21962971
    3. Characterization of the bovine pseudoautosomal region and comparison with sheep, goat, and other mammalian pseudoautosomal regions. Das PJ, et al. Cytogenet Genome Res, 2009. PMID 20016163
    4. The origin and evolution of the pseudoautosomal regions of human sex chromosomes. Graves JA, et al. Hum Mol Genet, 1998 Dec. PMID 9817914
    5. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Tarpey PS, et al. Nat Genet, 2009 May. PMID 19377476, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11323

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphoric diester hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    PI-PLC X domain-containing protein 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_016868.1 RefSeqGene

      Range
      10058..32033
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001370370.1 → NP_001357299.1  PI-PLC X domain-containing protein 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      BX000483, BX537334
      Consensus CDS
      CCDS14103.1
      UniProtKB/Swiss-Prot
      A2BH51, A2BH52, Q9NUJ7
      Related
      ENSP00000381976.1, ENSP00000518594.1, ENST00000399012.6, ENST00000711184.1
      Conserved Domains (1) summary
      cd08616
      Location:27 → 317
      PI-PLCXD1c; Catalytic domain of phosphatidylinositol-specific phospholipase C, X domain containing 1

    2. NM_001370371.1 → NP_001357300.1  PI-PLC X domain-containing protein 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      BX000483, BX537334
      Consensus CDS
      CCDS14103.1
      UniProtKB/Swiss-Prot
      A2BH51, A2BH52, Q9NUJ7
      Conserved Domains (1) summary
      cd08616
      Location:27 → 317
      PI-PLCXD1c; Catalytic domain of phosphatidylinositol-specific phospholipase C, X domain containing 1

    3. NM_001370372.1 → NP_001357301.1  PI-PLC X domain-containing protein 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      BX000483, BX537334
      Conserved Domains (1) summary
      cd08616
      Location:27 → 265
      PI-PLCXD1c; Catalytic domain of phosphatidylinositol-specific phospholipase C, X domain containing 1

    4. NM_001370373.1 → NP_001357302.1  PI-PLC X domain-containing protein 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      BX000483, BX537334
      Consensus CDS
      CCDS14103.1
      UniProtKB/Swiss-Prot
      A2BH51, A2BH52, Q9NUJ7
      Conserved Domains (1) summary
      cd08616
      Location:27 → 317
      PI-PLCXD1c; Catalytic domain of phosphatidylinositol-specific phospholipase C, X domain containing 1

    5. NM_018390.4 → NP_060860.1  PI-PLC X domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_060860.1

      Status: REVIEWED

      Source sequence(s)
      BC005028, BU594555, BX000483, BX537334, DA052662
      Consensus CDS
      CCDS14103.1
      UniProtKB/Swiss-Prot
      A2BH51, A2BH52, Q9NUJ7
      Related
      ENSP00000371073.2, ENSP00000518661.1, ENST00000381657.8, ENST00000711179.1
      Conserved Domains (1) summary
      cd08616
      Location:27 → 317
      PI-PLCXD1c; Catalytic domain of phosphatidylinositol-specific phospholipase C, X domain containing 1

    RNA

    1. NR_028057.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BX000483, BX537334

    2. NR_163416.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BX000483, BX537334

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      276356..303356
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442245.1 → XP_047298201.1  PI-PLC X domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2BH51, A2BH52, Q9NUJ7

    2. XM_024452395.2 → XP_024308163.1  PI-PLC X domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2BH51, A2BH52, Q9NUJ7
      Conserved Domains (1) summary
      cd08616
      Location:27 → 317
      PI-PLCXD1c; Catalytic domain of phosphatidylinositol-specific phospholipase C, X domain containing 1

    3. XM_047442244.1 → XP_047298200.1  PI-PLC X domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2BH51, A2BH52, Q9NUJ7

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

      Range
      276356..303356
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442741.1 → XP_047298697.1  PI-PLC X domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2BH51, A2BH52, Q9NUJ7

    2. XM_011545633.4 → XP_011543935.1  PI-PLC X domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011543935.1

      UniProtKB/Swiss-Prot
      A2BH51, A2BH52, Q9NUJ7
      Conserved Domains (1) summary
      cd08616
      Location:27 → 317
      PI-PLCXD1c; Catalytic domain of phosphatidylinositol-specific phospholipase C, X domain containing 1

    3. XM_024452491.2 → XP_024308259.1  PI-PLC X domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2BH51, A2BH52, Q9NUJ7
      Conserved Domains (1) summary
      cd08616
      Location:27 → 317
      PI-PLCXD1c; Catalytic domain of phosphatidylinositol-specific phospholipase C, X domain containing 1

    4. XM_047442740.1 → XP_047298696.1  PI-PLC X domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2BH51, A2BH52, Q9NUJ7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      103482..131585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327360.1 → XP_054183335.1  PI-PLC X domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2BH51, A2BH52, Q9NUJ7

    2. XM_054327361.1 → XP_054183336.1  PI-PLC X domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2BH51, A2BH52, Q9NUJ7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060948.1 Alternate T2T-CHM13v2.0

      Range
      103034..130734
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328313.1 → XP_054184288.1  PI-PLC X domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2BH51, A2BH52, Q9NUJ7

    2. XM_054328315.1 → XP_054184290.1  PI-PLC X domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2BH51, A2BH52, Q9NUJ7

    3. XM_054328314.1 → XP_054184289.1  PI-PLC X domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2BH51, A2BH52, Q9NUJ7

    4. XM_054328316.1 → XP_054184291.1  PI-PLC X domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2BH51, A2BH52, Q9NUJ7

    5. XM_054328312.1 → XP_054184287.1  PI-PLC X domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2BH51, A2BH52, Q9NUJ7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NUJ7.1 GenPept UniProtKB/Swiss-Prot:Q9NUJ7

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