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

Gene ID: 64081, updated on 29-Oct-2022

Summary

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
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Genomic context

See PBLD in Genome Data Viewer
Location:
10q21.3
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (68282660..68332928, complement)
110 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 long intergenic non-protein coding RNA 2640 Neighboring gene keratin 19 pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 82 Neighboring gene heterogeneous nuclear ribonucleoprotein H3 Neighboring gene RUN and FYVE domain containing 2 Neighboring gene ribosomal protein L26 pseudogene 29 Neighboring gene DNA replication helicase/nuclease 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 

General protein information

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

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_001033083.2NP_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:1244
    DAP_epimerase; Diaminopimelate epimerase
  2. NM_022129.4NP_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
    P30039, Q9HCC2
    UniProtKB/TrEMBL
    A0A024QZK5
    Related
    ENSP00000351619.2, ENST00000358769.7
    Conserved Domains (1) summary
    cl27516
    Location:9284
    PhzC-PhzF; Phenazine biosynthesis-like protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017016513.2XP_016872002.1  phenazine biosynthesis-like domain-containing protein isoform X2

    Conserved Domains (1) summary
    cl19724
    Location:1234
    DAP_epimerase; Diaminopimelate epimerase
  2. XM_011540060.4XP_011538362.1  phenazine biosynthesis-like domain-containing protein isoform X2

    Conserved Domains (1) summary
    cl19724
    Location:1234
    DAP_epimerase; Diaminopimelate epimerase
  3. XM_005270028.5XP_005270085.1  phenazine biosynthesis-like domain-containing protein isoform X1

    See identical proteins and their annotated locations for XP_005270085.1

    UniProtKB/Swiss-Prot
    P30039, Q9HCC2
    UniProtKB/TrEMBL
    A0A024QZK5
    Related
    ENSP00000308466.4, ENST00000309049.8
    Conserved Domains (1) summary
    cl27516
    Location:9284
    PhzC-PhzF; Phenazine biosynthesis-like protein
  4. XM_017016514.2XP_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)