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    PBLD phenazine biosynthesis like protein domain containing [ Homo sapiens (human) ]

    Gene ID: 64081, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PBLDprovided by HGNC
    Official Full Name
    phenazine biosynthesis like protein domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:23301
    See related
    Ensembl:ENSG00000108187 MIM:612189; AllianceGenome:HGNC:23301
    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
    MAWBP; MAWDBP; HEL-S-306
    Summary
    Enables identical protein binding activity. Involved in maintenance of gastrointestinal epithelium. Acts upstream of or within with a positive effect on negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in kidney (RPKM 94.0), duodenum (RPKM 62.5) and 5 other tissues See more
    Orthologs
    all
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    Genomic context

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    See PBLD in Genome Data Viewer
    Location:
    10q21.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (68282660..68332928, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (69151835..69202137, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (70042417..70092685, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16219 Neighboring gene long intergenic non-protein coding RNA 2640 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16253 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:70010536-70011036 Neighboring gene keratin 19 pseudogene 4 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16457 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16478 Neighboring gene MPRA-validated peak989 silencer Neighboring gene MPRA-validated peak990 silencer Neighboring gene MPRA-validated peak991 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3460 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3462 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:70091533-70092347 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:70092348-70093161 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16564 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16571 Neighboring gene heterogeneous nuclear ribonucleoprotein H3 Neighboring gene MPRA-validated peak992 silencer Neighboring gene RUN and FYVE domain containing 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16583 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16593 Neighboring gene MPRA-validated peak994 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:70166191-70166692 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:70166693-70167192 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16635 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16643 Neighboring gene ribosomal protein L26 pseudogene 29 Neighboring gene DNA replication helicase/nuclease 2

    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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    Related articles in PubMed

    1. PBLD inhibits angiogenesis via impeding VEGF/VEGFR2-mediated microenvironmental cross-talk between HCC cells and endothelial cells. Han L, et al. Oncogene, 2022 Mar. PMID 35140333, Free PMC Article
    2. Decreased expression of PBLD correlates with poor prognosis and functions as a tumor suppressor in human hepatocellular carcinoma. Li A, et al. Oncotarget, 2016 Jan 5. PMID 26594798, Free PMC Article
    3. circKDM4C suppresses tumor progression and attenuates doxorubicin resistance by regulating miR-548p/PBLD axis in breast cancer. Liang Y, et al. Oncogene, 2019 Oct. PMID 31406252
    4. Mitogen-activated protein kinase activator with WD40 repeats (MAWD) and MAWD-binding protein induce cell differentiation in gastric cancer. Li D, et al. BMC Cancer, 2015 Sep 15. PMID 26373288, Free PMC Article
    5. Cloning and sequencing of a novel human gene which encodes a putative hydroxylase. Iriyama C, et al. J Hum Genet, 2001. PMID 11355021

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PBLD inhibits angiogenesis via impeding VEGF/VEGFR2-mediated microenvironmental cross-talk between HCC cells and endothelial cells.
      Title: PBLD inhibits angiogenesis via impeding VEGF/VEGFR2-mediated microenvironmental cross-talk between HCC cells and endothelial cells.
    2. Long noncoding RNA MEG3 suppresses cell proliferation, migration and invasion, induces apoptosis and paclitaxel-resistance via miR-4513/PBLD axis in breast cancer cells.
      Title: Long noncoding RNA MEG3 suppresses cell proliferation, migration and invasion, induces apoptosis and paclitaxel-resistance via miR-4513/PBLD axis in breast cancer cells.
    3. data indicate that circKDM4C might have considerable potential as a prognostic biomarker in breast cancer, and support the notion that therapeutic targeting of circKDM4C/miR-548p/PBLD axis may be a promising treatment approach for breast cancer patients
      Title: circKDM4C suppresses tumor progression and attenuates doxorubicin resistance by regulating miR-548p/PBLD axis in breast cancer.
    4. Data show that phenazine biosynthesis-like domain-containing protein (PBLD) is aberrantly downregulated in hepatocellular carcinoma (HCC).
      Title: Decreased expression of PBLD correlates with poor prognosis and functions as a tumor suppressor in human hepatocellular carcinoma.
    5. MAWD and MAWBP were downregulated and associated with the differentiation grade in GC tissues.
      Title: Mitogen-activated protein kinase activator with WD40 repeats (MAWD) and MAWD-binding protein induce cell differentiation in gastric cancer.
    6. Coexpression of MAWBP and MAWD inhibited epithelial mesenchymal transformation, and EMT-aided malignant cell progression was suppressed in gastric cancer.
      Title: MAWBP and MAWD inhibit proliferation and invasion in gastric cancer.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study of optic disc parameters.
    EBI GWAS Catalog
    Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
    EBI GWAS Catalog

    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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    Markers

    Homology

    Clone Names

    • FLJ14767, FLJ35507

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in maintenance of gastrointestinal epithelium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within_positive_effect negative regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    phenazine biosynthesis-like domain-containing protein
    Names
    MAWD-binding protein
    epididymis secretory protein Li 306
    epididymis secretory sperm binding protein
    NP_001028255.1
    NP_071412.2
    XP_005270085.1
    XP_011538362.1
    XP_016872002.1
    XP_016872003.1
    XP_054222508.1
    XP_054222509.1
    XP_054222510.1
    XP_054222511.1

    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_001033083.2 → NP_001028255.1  phenazine biosynthesis-like domain-containing protein isoform b

      See identical proteins and their annotated locations for NP_001028255.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes a different 3' terminal exon compared to variant 1. The resulting protein (isoform b) has a shorter, distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC016395, AI114748, AI439144, CB121561
      Consensus CDS
      CCDS44413.1
      UniProtKB/Swiss-Prot
      P30039
      Related
      ENSP00000476306.1, ENST00000495025.2
      Conserved Domains (1) summary
      cl19724
      Location:1 → 244
      DAP_epimerase; Diaminopimelate epimerase

    2. NM_022129.4 → NP_071412.2  phenazine biosynthesis-like domain-containing protein isoform a

      See identical proteins and their annotated locations for NP_071412.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC016395, AI114748, CB121561
      Consensus CDS
      CCDS7277.2
      UniProtKB/Swiss-Prot
      A8MZJ3, C9JIM0, P30039, Q9HCC2
      UniProtKB/TrEMBL
      A0A024QZK5, A0A0C4DFS0
      Related
      ENSP00000351619.2, ENST00000358769.7
      Conserved Domains (1) summary
      cl27516
      Location:9 → 284
      PhzC-PhzF; Phenazine biosynthesis-like protein

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      68282660..68332928 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016513.2 → XP_016872002.1  phenazine biosynthesis-like domain-containing protein isoform X2

      Conserved Domains (1) summary
      cl19724
      Location:1 → 234
      DAP_epimerase; Diaminopimelate epimerase

    2. XM_011540060.4 → XP_011538362.1  phenazine biosynthesis-like domain-containing protein isoform X2

      Conserved Domains (1) summary
      cl19724
      Location:1 → 234
      DAP_epimerase; Diaminopimelate epimerase

    3. XM_005270028.5 → XP_005270085.1  phenazine biosynthesis-like domain-containing protein isoform X1

      See identical proteins and their annotated locations for XP_005270085.1

      UniProtKB/Swiss-Prot
      A8MZJ3, C9JIM0, P30039, Q9HCC2
      UniProtKB/TrEMBL
      A0A024QZK5, A0A0C4DFS0
      Related
      ENSP00000308466.4, ENST00000309049.8
      Conserved Domains (1) summary
      cl27516
      Location:9 → 284
      PhzC-PhzF; Phenazine biosynthesis-like protein

    4. XM_017016514.2 → XP_016872003.1  phenazine biosynthesis-like domain-containing protein isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      69151835..69202137 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366535.1 → XP_054222510.1  phenazine biosynthesis-like domain-containing protein isoform X2

    2. XM_054366534.1 → XP_054222509.1  phenazine biosynthesis-like domain-containing protein isoform X2

    3. XM_054366533.1 → XP_054222508.1  phenazine biosynthesis-like domain-containing protein isoform X1

      UniProtKB/Swiss-Prot
      A8MZJ3, C9JIM0, P30039, Q9HCC2
      UniProtKB/TrEMBL
      A0A024QZK5

    4. XM_054366536.1 → XP_054222511.1  phenazine biosynthesis-like domain-containing protein isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P30039.2 GenPept UniProtKB/Swiss-Prot:P30039

    Gene LinkOut

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

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