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

Gene ID: 64081, updated on 3-Apr-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; negative regulation of SMAD protein signal transduction; and negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (68282660..68332928, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (69151835..69202137, complement)
105.20220307 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
  • 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. Long noncoding RNA MEG3 suppresses cell proliferation, migration and invasion, induces apoptosis and paclitaxel-resistance via miR-4513/PBLD axis in breast cancer cells. Zhu M, et al. Cell Cycle, 2020 Dec. PMID 33121324, Free PMC Article

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_2023_10

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

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