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    MAGIX MAGI family member, X-linked [ Homo sapiens (human) ]

    Gene ID: 79917, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MAGIXprovided by HGNC
    Official Full Name
    MAGI family member, X-linkedprovided by HGNC
    Primary source
    HGNC:HGNC:30006
    See related
    Ensembl:ENSG00000269313 AllianceGenome:HGNC:30006
    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
    Also known as
    JM10; PDZX
    Expression
    Ubiquitous expression in stomach (RPKM 1.5), kidney (RPKM 1.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAGIX in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (49162665..49168774)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48574403..48580510)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (49019099..49025111)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chrX:48974390-48974501 Neighboring gene G-patch domain and KOW motifs Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:48979755-48980408 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:48980409-48981062 Neighboring gene uncharacterized LOC105373195 Neighboring gene CRISPRi-validated cis-regulatory element chrX.1004 Neighboring gene CRISPRi-validated cis-regulatory element chrX.1005 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 1 Neighboring gene RNA, 7SL, cytoplasmic 262, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:49019052-49019751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20837 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:49022309-49023254 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20838 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20839 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:49032849-49033350 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 11 Neighboring gene prickle planar cell polarity protein 3 Neighboring gene proteolipid protein 2 Neighboring gene CRISPRi-FlowFISH-validated GATA1 and PLP2 regulatory element Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29635 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 13 Neighboring gene synaptophysin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20843 Neighboring gene SYP antisense RNA 1

    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. Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. Wang P, et al. J Clin Invest, 2019 Jul 25. PMID 31343991, Free PMC Article
    2. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

    See all (9) 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

    • FLJ21687, MGC138889

    General protein information

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    Preferred Names
    PDZ domain-containing protein MAGIX
    Names
    PDZ domain containing, X chromosome

    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.

    mRNA and Protein(s)

    1. NM_001099681.2 → NP_001093151.2  PDZ domain-containing protein MAGIX isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (c) is shorter than isoform a.
      Source sequence(s)
      AC231657, AI369342, AK025340, BC067800
      Consensus CDS
      CCDS48107.1
      UniProtKB/TrEMBL
      A0A087WUY6
      Related
      ENSP00000479023.1, ENST00000615626.4
      Conserved Domains (1) summary
      cd00992
      Location:93 → 130
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

    2. NM_001099682.2 → NP_001093152.2  PDZ domain-containing protein MAGIX isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (d) is shorter than isoform a.
      Source sequence(s)
      AC231657, AK025340, BC027995
      Consensus CDS
      CCDS75976.1
      UniProtKB/TrEMBL
      A0A087X263
      Related
      ENSP00000484729.1, ENST00000614074.4
      Conserved Domains (1) summary
      cd00992
      Location:93 → 130
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

    3. NM_001395401.1 → NP_001382330.1  PDZ domain-containing protein MAGIX isoform e

      Status: VALIDATED

      Source sequence(s)
      AC231657
      Consensus CDS
      CCDS94607.1
      UniProtKB/TrEMBL
      A0A087X1L4
      Related
      ENSP00000481198.1, ENST00000616266.4
      Conserved Domains (1) summary
      cd00992
      Location:65 → 147
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

    4. NM_024859.4 → NP_079135.3  PDZ domain-containing protein MAGIX isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC231657
      Consensus CDS
      CCDS48106.1
      UniProtKB/Swiss-Prot
      A0A075B7A2, A6XND4, A8MSX9, B7WP26, Q14C81, Q9H6Y5
      Related
      ENSP00000471299.1, ENST00000595224.6
      Conserved Domains (1) summary
      cd00992
      Location:124 → 206
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

    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
      49162665..49168774
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791820.1 Reference GRCh38.p14 PATCHES

      Range
      321616..327725
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      48574403..48580510
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001099680.1: Suppressed sequence

      Description
      NM_001099680.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6Y5.4 GenPept UniProtKB/Swiss-Prot:Q9H6Y5

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