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

Gene ID: 51260, updated on 23-Nov-2021

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
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
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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
109.20211119 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (76173062..76178314)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (75392897..75398149)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ARL5A pseudogene 5 Neighboring gene uncharacterized LOC107985665 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
  • 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. Dephosphorylation of the transcriptional cofactor NACA by the PP1A phosphatase enhances cJUN transcriptional activity and osteoblast differentiation. Addison WN, et al. J Biol Chem, 2019 May 17. PMID 30948508, Free PMC Article
  2. Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution. Cheng J, et al. Science, 2005 May 20. PMID 15790807
  3. The intracellular NADH level regulates atrophic nonunion pathogenesis through the CtBP2-p300-Runx2 transcriptional complex. Zhang W, et al. Int J Biol Sci, 2018. PMID 30585266, Free PMC Article
  4. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. Zhang QH, et al. Genome Res, 2000 Oct. PMID 11042152, Free PMC Article
  5. Upregulation of RIN3 induces endosomal dysfunction in Alzheimer's disease. Shen R, et al. Transl Neurodegener, 2020 Jun 18. PMID 32552912, Free PMC Article

See all (24) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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)

Genotypes

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 molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  

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/Swiss-Prot
    Q9BVG4
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    76173062..76178314
    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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