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    PBDC1 polysaccharide biosynthesis domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 51260, updated on 14-Nov-2024

    Summary

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    Official Symbol
    PBDC1provided by HGNC
    Official Full Name
    polysaccharide biosynthesis domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:28790
    See related
    Ensembl:ENSG00000102390 AllianceGenome:HGNC:28790
    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
    CXorf26
    Expression
    Ubiquitous expression in duodenum (RPKM 13.7), small intestine (RPKM 12.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PBDC1 in Genome Data Viewer
    Location:
    Xq13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (76173062..76178314)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (74606393..74611646)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (75392897..75398149)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene FOXN3 pseudogene 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:75226832-75227391 Neighboring gene ARL5A pseudogene 5 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:75329968-75330101 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:75365139-75365958 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:75368282-75368816 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:75392909-75393766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:75439133-75439876 Neighboring gene MMADHC pseudogene 1 Neighboring gene RNA, U6 small nuclear 867, pseudogene

    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 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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    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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    Homology

    Clone Names

    • MGC874, 2610029G23Rik

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein PBDC1
    Names
    UPF0368 protein Cxorf26
    polysaccharide biosynthesis 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.

    mRNA and Protein(s)

    1. NM_001300888.2 → NP_001287817.1  protein PBDC1 isoform 2

      See identical proteins and their annotated locations for NP_001287817.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region which results in a frameshift compared to isoform 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC233281, AI919559, BC001220, CD704296, DB536944
      Consensus CDS
      CCDS75995.1
      UniProtKB/TrEMBL
      A6NDF3
      Related
      ENSP00000362455.3, ENST00000373357.3
      Conserved Domains (1) summary
      cl04661
      Location:35 → 100
      Polysacc_synt_4; Polysaccharide biosynthesis

    2. NM_016500.5 → NP_057584.2  protein PBDC1 isoform 1

      See identical proteins and their annotated locations for NP_057584.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC233281, AI919559, BC001220
      Consensus CDS
      CCDS14432.1
      UniProtKB/Swiss-Prot
      Q9BVG4
      Related
      ENSP00000362456.3, ENST00000373358.8
      Conserved Domains (1) summary
      pfam04669
      Location:35 → 159
      Polysacc_synt_4; Polysaccharide biosynthesis

    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
      76173062..76178314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      74606393..74611646
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BVG4.1 GenPept UniProtKB/Swiss-Prot:Q9BVG4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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