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

Gene ID: 55344, updated on 27-Nov-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
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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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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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