PBLD

gene
On this page

Also known as MAWBPMAWDBPFLJ14767

Summary

PBLD (phenazine biosynthesis like protein domain containing, HGNC:23301) is a protein-coding gene on chromosome 10q21.3, encoding Phenazine biosynthesis-like domain-containing protein (P30039). Functions as a positive regulator of the antiviral immune response by modulating innate immunity and viral replication by enhancing type I interferon (IFN-I) response.

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.

Source: NCBI Gene 64081 — RefSeq curated summary.

At a glance

  • GWAS associations: 8
  • Clinical variants (ClinVar): 50 total
  • MANE Select transcript: NM_022129

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:23301
Approved symbolPBLD
Namephenazine biosynthesis like protein domain containing
Location10q21.3
Locus typegene with protein product
StatusApproved
AliasesMAWBP, MAWDBP, FLJ14767
Ensembl geneENSG00000108187
Ensembl biotypeprotein_coding
OMIM612189
Entrez64081

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 19 protein_coding, 2 retained_intron

ENST00000277795, ENST00000309049, ENST00000336578, ENST00000358769, ENST00000468798, ENST00000478192, ENST00000495025, ENST00000880158, ENST00000880159, ENST00000880160, ENST00000880161, ENST00000880162, ENST00000880163, ENST00000880164, ENST00000880165, ENST00000880166, ENST00000880167, ENST00000880168, ENST00000880169, ENST00000940606, ENST00000966864

RefSeq mRNA: 2 — MANE Select: NM_022129 NM_001033083, NM_022129

CCDS: CCDS44413, CCDS7277

Canonical transcript exons

ENST00000358769 — 10 exons

ExonStartEnd
ENSE000014611986833278468332928
ENSE000033849006830676168306903
ENSE000037075736829688668296985
ENSE000037097566829212968292238
ENSE000037112306829201068292039
ENSE000038897796829626668296364
ENSE000038918586828534868285410
ENSE000038921156828848368288661
ENSE000038957786828266068284289
ENSE000038961006828893168289019

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 99.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.3167 / max 472.1352, expressed in 1647 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter IDTPM avgSamples expressed
1097493.60521560
1097451.251843
1097481.0298621
1097440.280124
1097460.118528
1097470.031315

Top tissues by expression

280 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
nephron tubuleUBERON:000123199.73gold quality
jejunal mucosaUBERON:000039999.61gold quality
kidney epitheliumUBERON:000481999.53gold quality
renal glomerulusUBERON:000007499.39gold quality
metanephric glomerulusUBERON:000473699.31gold quality
duodenumUBERON:000211498.67gold quality
renal medullaUBERON:000036298.10gold quality
liverUBERON:000210797.97gold quality
right lobe of liverUBERON:000111497.72gold quality
adult organismUBERON:000702397.02gold quality
adult mammalian kidneyUBERON:000008296.48gold quality
ileal mucosaUBERON:000033196.23gold quality
kidneyUBERON:000211396.09gold quality
colonic mucosaUBERON:000031795.66gold quality
mucosa of sigmoid colonUBERON:000499394.79gold quality
cortex of kidneyUBERON:000122594.64gold quality
endothelial cellCL:000011594.33gold quality
metanephrosUBERON:000008193.81gold quality
body of pancreasUBERON:000115093.71gold quality
caput epididymisUBERON:000435893.28gold quality
mucosa of transverse colonUBERON:000499192.89gold quality
pylorusUBERON:000116691.83gold quality
rectumUBERON:000105291.51gold quality
small intestineUBERON:000210891.11gold quality
small intestine Peyer’s patchUBERON:000345490.20gold quality
pancreasUBERON:000126489.49gold quality
cardia of stomachUBERON:000116289.36gold quality
bronchial epithelial cellCL:000232889.07gold quality
pancreatic ductal cellCL:000207989.02gold quality
body of stomachUBERON:000116188.98gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-HCAD-10yes30.32
E-CURD-135no848.93
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

80 targeting PBLD, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6867-5P100.0082.213464
HSA-MIR-3163100.0077.238605
HSA-MIR-656-3P100.0072.152788
HSA-MIR-548P99.9872.253784
HSA-MIR-32-5P99.9875.211964
HSA-MIR-92A-3P99.9875.211960
HSA-MIR-92B-3P99.9875.251955
HSA-MIR-25-3P99.9874.601817
HSA-MIR-363-3P99.9874.721821
HSA-MIR-367-3P99.9874.831819
HSA-MIR-477599.9875.006394
HSA-MIR-3692-3P99.9870.272139
HSA-MIR-302C-5P99.9772.563642
HSA-MIR-60799.9773.625593
HSA-MIR-302E99.9670.742669
HSA-MIR-548AT-5P99.9670.832666
HSA-MIR-3682-5P99.9367.971163
HSA-MIR-3529-3P99.9073.553045
HSA-MIR-106A-5P99.9073.942683
HSA-MIR-302A-3P99.8971.231777
HSA-MIR-302B-3P99.8971.231777
HSA-MIR-302C-3P99.8971.201778
HSA-MIR-302D-3P99.8971.251777
HSA-MIR-17-5P99.8973.832665
HSA-MIR-106B-5P99.8874.722795
HSA-MIR-20A-5P99.8874.762769
HSA-MIR-526B-3P99.8874.062587
HSA-MIR-20B-5P99.8874.012621
HSA-MIR-519D-3P99.8873.972607
HSA-MIR-93-5P99.8873.982606

Literature-anchored findings (GeneRIF, showing 6)

  • Coexpression of MAWBP and MAWD inhibited epithelial mesenchymal transformation, and EMT-aided malignant cell progression was suppressed in gastric cancer. (PMID:23687415)
  • MAWD and MAWBP were downregulated and associated with the differentiation grade in GC tissues. (PMID:26373288)
  • Data show that phenazine biosynthesis-like domain-containing protein (PBLD) is aberrantly downregulated in hepatocellular carcinoma (HCC). (PMID:26594798)
  • 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 (PMID:31406252)
  • Long noncoding RNA MEG3 suppresses cell proliferation, migration and invasion, induces apoptosis and paclitaxel-resistance via miR-4513/PBLD axis in breast cancer cells. (PMID:33121324)
  • PBLD inhibits angiogenesis via impeding VEGF/VEGFR2-mediated microenvironmental cross-talk between HCC cells and endothelial cells. (PMID:35140333)

Cross-species orthologs

11 orthologs

OrganismSymbolGene ID
danio_reriopbldENSDARG00000016704
danio_reriopbld2ENSDARG00000026359
mus_musculusPbld2ENSMUSG00000020072
mus_musculusPbld1ENSMUSG00000112129
rattus_norvegicusPbld1ENSRNOG00000000386
rattus_norvegicusPbld2ENSRNOG00000069854
caenorhabditis_elegansWBGENE00011416
caenorhabditis_elegansWBGENE00011417
caenorhabditis_elegansWBGENE00011419
caenorhabditis_elegansWBGENE00011420
caenorhabditis_elegansWBGENE00235310

Protein

Protein identifiers

Phenazine biosynthesis-like domain-containing proteinP30039 (reviewed: P30039)

Alternative names: MAWD-binding protein, Unknown protein 32 from 2D-page of liver tissue

All UniProt accessions (4): P30039, A0A024QZK5, A0A0C4DFS0, V9GY00

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a positive regulator of the antiviral immune response by modulating innate immunity and viral replication by enhancing type I interferon (IFN-I) response. PBLD enhances IFN-I signaling via multiple pathways. Promotes IRF3-mediated IFN-I production and apoptosis, thereby inhibiting viral replication. Upregulates IFN-I response by activating the NF-kappaB signaling pathway, potentially through inhibition of TRIM21-mediated degradation of phosphorylated IKKbeta, thereby sustaining NF-kappaB activation to counteract viral infection. Additionally, promotes the p53-USP4-MAVS signaling axis by stabilizing MAVS through USP4-mediated deubiquitination, thereby enhancing the IFN-I response against RNA virus infection. Acts as a tumor suppressor, regulating development of various cancers.

Subunit / interactions. Interacts with STRAP.

Similarity. Belongs to the PhzF family.

Isoforms (2)

UniProt IDNamesCanonical?
P30039-11yes
P30039-22

RefSeq proteins (2): NP_001028255, NP_071412* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR003719Phenazine_PhzF-likeFamily

Pfam: PF02567

UniProt features (6 total): sequence variant 3, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P30039-F195.610.93

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 138 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, MODULE_93, GOBP_DIGESTION, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_POSITIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, chr10q21, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, GOBP_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA, GOBP_CYTOKINE_PRODUCTION, GOBP_MAINTENANCE_OF_GASTROINTESTINAL_EPITHELIUM

GO Biological Process (8): apoptotic process (GO:0006915), maintenance of gastrointestinal epithelium (GO:0030277), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), regulation of type I interferon production (GO:0032479), positive regulation of type I interferon production (GO:0032481), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), antiviral innate immune response (GO:0140374), biosynthetic process (GO:0009058)

GO Molecular Function (5): isomerase activity (GO:0016853), identical protein binding (GO:0042802), molecular_function (GO:0003674), catalytic activity (GO:0003824), protein binding (GO:0005515)

GO Cellular Component (2): cytoplasm (GO:0005737), extracellular exosome (GO:0070062)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
type I interferon production2
programmed cell death1
apoptotic signaling pathway1
execution phase of apoptosis1
epithelial structure maintenance1
digestive system process1
transforming growth factor beta receptor signaling pathway1
regulation of transforming growth factor beta receptor signaling pathway1
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway1
regulation of cytokine production1
positive regulation of cytokine production1
regulation of type I interferon production1
canonical NF-kappaB signal transduction1
regulation of canonical NF-kappaB signal transduction1
positive regulation of intracellular signal transduction1
innate immune response1
defense response to virus1
metabolic process1
catalytic activity1
protein binding1
molecular_function1
binding1
intracellular anatomical structure1
cellular anatomical structure1
extracellular vesicle1

Protein interactions and networks

STRING

552 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PBLDSTRAPQ9Y3F4981
PBLDRUFY2Q8WXA3538
PBLDATOH7Q8N100454
PBLDZNRD2O60232436
PBLDTMEM50AO95807425
PBLDTMTC2Q8N394415
PBLDMYPNQ86TC9391
PBLDFRMPD2Q68DX3386
PBLDFAM131CQ96AQ9384
PBLDVRK1Q99986366
PBLDASB7Q9H672365
PBLDRPAP3Q9H6T3358
PBLDRFLNAQ6ZTI6356
PBLDFRMD8Q9BZ67353
PBLDLARP4Q71RC2346

IntAct

57 interactions, top by confidence:

ABTypeScore
PBLDEFHC2psi-mi:“MI:0915”(physical association)0.780
EFHC2PBLDpsi-mi:“MI:0915”(physical association)0.780
PBLDZRANB1psi-mi:“MI:0915”(physical association)0.760
CCDC184PBLDpsi-mi:“MI:0915”(physical association)0.720
PBLDCCDC184psi-mi:“MI:0915”(physical association)0.720
TRIP13PBLDpsi-mi:“MI:0915”(physical association)0.670
PBLDTRIP13psi-mi:“MI:0915”(physical association)0.670
PBLDPBLDpsi-mi:“MI:0915”(physical association)0.670
PLEKHS1PBLDpsi-mi:“MI:0915”(physical association)0.590
TCF4PBLDpsi-mi:“MI:0915”(physical association)0.560
LNX1PBLDpsi-mi:“MI:0915”(physical association)0.560
PBLDTCF4psi-mi:“MI:0915”(physical association)0.560
PBLDLNX1psi-mi:“MI:0915”(physical association)0.560
PBLDVAC14psi-mi:“MI:0915”(physical association)0.560
AMOTPBLDpsi-mi:“MI:0915”(physical association)0.560
PBLDBEND7psi-mi:“MI:0915”(physical association)0.560

BioGRID (38): PBLD (Two-hybrid), PBLD (Two-hybrid), PBLD (Two-hybrid), EFHC2 (Two-hybrid), LNX1 (Two-hybrid), CCDC184 (Two-hybrid), ZRANB1 (Affinity Capture-MS), PBLD (Affinity Capture-MS), PBLD (Affinity Capture-MS), PBLD (Two-hybrid), ZRANB1 (Affinity Capture-MS), PBLD (Affinity Capture-MS), PBLD (Affinity Capture-MS), PBLD (Affinity Capture-MS), PBLD (Two-hybrid)

ESM2 similar proteins: A1CP85, A3QFI1, A6R8Q8, A8X493, B0WSW8, B3MZN7, B3NY19, B4PYH5, B6JVD0, C0NL63, C4JYG6, C5G8R4, C5JKE6, C6HCG7, D0A8W2, D5SQS4, P05165, P07547, P0DTA4, P14882, P30039, P37757, P38765, P58292, P73125, P87241, Q08DA5, Q0D0F3, Q16P87, Q21657, Q2HJF4, Q32LQ3, Q383H9, Q3SX04, Q42777, Q4V7F3, Q5I0C3, Q5RDZ1, Q68EH8, Q68G31

Diamond homologs: O31570, P30039, P37757, P40788, P58292, P58293, Q5RDZ1, Q9A3I3, Q9HY42, Q9KBH7, Q9RUQ2, Q2HJF4, Q68G31, Q8NIL3, Q98KN6, Q9CKV2, Q9CXN7, Q9DCG6, Q9I073, Q9KG32, O69754, Q51520, Q51792, P0A5G8, P38765, P73125, P9WL42, P9WL43, Q9P7P9, Q9KMG3

SIGNOR signaling

0 interactions.

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

50 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance42
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2214 predictions. Top by Δscore:

VariantEffectΔscore
10:68288925:TCTTA:Tdonor_loss1.0000
10:68288926:CTTA:Cdonor_loss1.0000
10:68288927:TTAC:Tdonor_loss1.0000
10:68288928:TACCT:Tdonor_loss1.0000
10:68288929:A:ACdonor_gain1.0000
10:68288930:C:CCdonor_gain1.0000
10:68288930:C:CGdonor_loss1.0000
10:68289020:C:CCacceptor_gain1.0000
10:68296264:A:ACdonor_gain1.0000
10:68296265:C:CCdonor_gain1.0000
10:68296268:A:ACdonor_gain1.0000
10:68296884:A:ACdonor_gain1.0000
10:68296885:C:CCdonor_gain1.0000
10:68306759:A:ACdonor_gain1.0000
10:68306760:C:CCdonor_gain1.0000
10:68306760:CA:Cdonor_gain1.0000
10:68306904:CTT:Cacceptor_gain1.0000
10:68306907:C:CCacceptor_gain1.0000
10:68306908:T:Cacceptor_gain1.0000
10:68306908:T:TCacceptor_gain1.0000
10:68332215:GG:Gdonor_gain1.0000
10:68332216:GG:Gdonor_gain1.0000
10:68332223:G:GTdonor_gain1.0000
10:68332226:G:GGdonor_gain1.0000
10:68332232:GGGG:Gdonor_gain1.0000
10:68332233:GGGG:Gdonor_gain1.0000
10:68288601:C:Adonor_gain0.9900
10:68288663:T:Cacceptor_gain0.9900
10:68289016:CAGT:Cacceptor_gain0.9900
10:68289019:TCT:Tacceptor_loss0.9900

AlphaMissense

1883 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
10:68306812:G:CF11L0.996
10:68306812:G:TF11L0.996
10:68306814:A:GF11L0.996
10:68296344:A:GW69R0.995
10:68296344:A:TW69R0.995
10:68288493:G:CD227E0.993
10:68288493:G:TD227E0.993
10:68288495:C:GD227H0.993
10:68296339:A:CF70L0.993
10:68296339:A:TF70L0.993
10:68296341:A:GF70L0.993
10:68288494:T:CD227G0.992
10:68296923:A:CF49L0.991
10:68296923:A:TF49L0.991
10:68296925:A:GF49L0.991
10:68288494:T:GD227A0.989
10:68288527:C:GR216T0.989
10:68288955:A:TV163D0.989
10:68288494:T:AD227V0.988
10:68306788:A:CN19K0.988
10:68306788:A:TN19K0.988
10:68285381:A:GW241R0.987
10:68285381:A:TW241R0.987
10:68288526:T:AR216S0.987
10:68288526:T:GR216S0.987
10:68296306:A:CH81Q0.987
10:68296306:A:TH81Q0.987
10:68306793:C:AG18W0.987
10:68296290:C:GA87P0.986
10:68296295:G:TA85D0.985

dbSNP variants (sampled 300 via entrez): RS1000152563 (10:68316791 T>C), RS1000228517 (10:68297256 G>A), RS1000237599 (10:68285868 A>G,T), RS1000292075 (10:68332632 A>T), RS1000294505 (10:68289632 G>A,C), RS1000327056 (10:68310149 A>G), RS1000377888 (10:68303693 C>G,T), RS1000405323 (10:68322596 C>T), RS1000420993 (10:68326667 T>G), RS1000455859 (10:68296585 C>A,G,T), RS1000515525 (10:68282562 C>A,T), RS1000573550 (10:68287747 TTTG>T), RS1000598362 (10:68296833 C>T), RS1000666591 (10:68289875 C>T), RS1000725840 (10:68332461 A>G)

Disease associations

OMIM: gene MIM:612189 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

8 associations (top):

StudyTraitp-value
GCST000657_5Optic nerve measurement (disc area)2.000000e-10
GCST000699_2Optic disc parameters3.000000e-35
GCST000700_8Vertical cup-disc ratio2.000000e-08
GCST004047_2Optic nerve measurement (cup-to-disc ratio)1.000000e-13
GCST009427_2Optic disc radius4.000000e-11
GCST009462_11Optic disc size3.000000e-209
GCST009462_12Optic disc size1.000000e-56
GCST90020028_49Hip circumference adjusted for BMI1.000000e-08

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0006939cup-to-disc ratio measurement
EFO:0008039BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, decreases expression, affects expression8
Aflatoxin B1affects expression, decreases expression, decreases methylation3
Hydrogen Peroxideaffects expression, decreases expression2
Tetrachlorodibenzodioxinaffects expression, decreases expression2
Cyclosporinedecreases expression2
sotorasibaffects cotreatment, increases expression1
dicrotophosdecreases expression1
methylmercuric chloridedecreases expression1
methyleugenoldecreases expression1
triphenyl phosphateaffects expression1
bisphenol Aaffects expression1
di-n-butylphosphoric acidaffects expression1
perfluorooctane sulfonic acidincreases expression1
perfluoro-n-nonanoic aciddecreases expression1
monomethylarsonous aciddecreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
perfluorohexanesulfonic acidincreases expression1
clothianidindecreases expression1
dorsomorphindecreases expression, affects cotreatment1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidineincreases expression, increases response to substance1
trametinibaffects cotreatment, increases expression1
NVP-BKM120affects cotreatment, increases expression1
Sunitinibdecreases expression1
Zoledronic Aciddecreases expression1
Air Pollutantsdecreases expression1
Arsenicaffects methylation1
Atrazinedecreases expression1
Benzo(a)pyrenedecreases expression1
Estradioldecreases expression1
Ethyl Methanesulfonateincreases expression1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_D7WMUbigene A-549 PBLD KOCancer cell lineMale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.