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PBX3 PBX homeobox 3 [ Homo sapiens (human) ]

Gene ID: 5090, updated on 9-Dec-2018

Summary

Official Symbol
PBX3provided by HGNC
Official Full Name
PBX homeobox 3provided by HGNC
Primary source
HGNC:HGNC:8634
See related
Ensembl:ENSG00000167081 MIM:176312
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
Expression
Ubiquitous expression in adrenal (RPKM 28.9), ovary (RPKM 26.1) and 25 other tissues See more
Orthologs

Genomic context

See PBX3 in Genome Data Viewer
Location:
9q33.3
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (125747338..125967377)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (128509617..128729656)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase associated protein 1 Neighboring gene uncharacterized LOC107987128 Neighboring gene VISTA enhancer hs1030 Neighboring gene VISTA enhancer hs818 Neighboring gene VISTA enhancer hs1102 Neighboring gene uncharacterized LOC51145 Neighboring gene uncharacterized LOC107984127 Neighboring gene VISTA enhancer hs1017 Neighboring gene uncharacterized LOC105376273 Neighboring gene VISTA enhancer hs987

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
anterior compartment pattern formation TAS
Traceable Author Statement
more info
PubMed 
dorsal spinal cord development IEA
Inferred from Electronic Annotation
more info
 
neuron development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
posterior compartment specification TAS
Traceable Author Statement
more info
PubMed 
regulation of respiratory gaseous exchange by neurological system process IEA
Inferred from Electronic Annotation
more info
 
respiratory gaseous exchange IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
transcription factor complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
pre-B-cell leukemia transcription factor 3
Names
homeobox protein PBX3
pre-B-cell leukemia homeobox 3

NCBI Reference Sequences (RefSeq)

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_001134778.1NP_001128250.1  pre-B-cell leukemia transcription factor 3 isoform 2

    See identical proteins and their annotated locations for NP_001128250.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) utilizes an alternate first exon and 5'UTR; thus, the first likely translation initiation site corresponds to an internal methionine in variant 1. The predicted protein (isoform 2) is N-terminally truncated compared to isoform 1 and is not predicted to have a signal peptide.
    Source sequence(s)
    AK309713, BC094883, CD675622, CN372830, CN372832
    Consensus CDS
    CCDS48021.1
    UniProtKB/Swiss-Prot
    P40426
    Related
    ENSP00000387456.2, ENST00000447726.6
    Conserved Domains (2) summary
    cd00086
    Location:161221
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03792
    Location:1159
    PBC; PBC domain
  2. NM_001330782.1NP_001317711.1  pre-B-cell leukemia transcription factor 3 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL358074, AL445186, BC094883, BP340711, DA692140
    Consensus CDS
    CCDS83416.1
    UniProtKB/Swiss-Prot
    P40426
    Related
    ENSP00000341990.5, ENST00000342287.9
    Conserved Domains (2) summary
    cd00086
    Location:236296
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03792
    Location:43234
    PBC; PBC domain
  3. NM_006195.6NP_006186.1  pre-B-cell leukemia transcription factor 3 isoform 1

    See identical proteins and their annotated locations for NP_006186.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) utilizes an alternate first exon containing a predicted translation initiation site with a strong Kozak signal; the resulting protein isoform (1) is predicted to have a signal peptide.
    Source sequence(s)
    BC016977, BC094883, X59841
    Consensus CDS
    CCDS6865.1
    UniProtKB/Swiss-Prot
    P40426
    UniProtKB/TrEMBL
    Q96AL5
    Related
    ENSP00000362588.5, ENST00000373489.9
    Conserved Domains (2) summary
    cd00086
    Location:236296
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03792
    Location:43234
    PBC; PBC domain

RNA

  1. NR_024122.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) omits a coding exon resulting in a frameshift and truncated open reading frame. The transcript is predicted to be a candidate for nonsense-mediated decay and likely does not encode a protein.
    Source sequence(s)
    AF355141, AI479638, BC094883, CD675622, CN372830, CN372832, X59841
  2. NR_024123.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) omits two coding exons resulting in a frameshift and truncated open reading frame. The transcript is predicted to be a candidate for nonsense-mediated decay and likely does not encode a protein.
    Source sequence(s)
    AF355142, AI479638, BC094883, CD675622, CN372830, CN372832, X59841

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    125747338..125967377
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717130.1XP_006717193.1  pre-B-cell leukemia transcription factor 3 isoform X1

    UniProtKB/TrEMBL
    Q5JS98
    Related
    ENSP00000362586.4, ENST00000373487.8
    Conserved Domains (2) summary
    cd00086
    Location:236317
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03792
    Location:43234
    PBC; PBC domain
  2. XM_006717131.1XP_006717194.1  pre-B-cell leukemia transcription factor 3 isoform X3

    Conserved Domains (2) summary
    cd00086
    Location:236317
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03792
    Location:43234
    PBC; PBC domain
  3. XM_006717133.2XP_006717196.1  pre-B-cell leukemia transcription factor 3 isoform X5

    See identical proteins and their annotated locations for XP_006717196.1

    Conserved Domains (2) summary
    cd00086
    Location:55136
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03792
    Location:153
    PBC; PBC domain
  4. XM_017014786.1XP_016870275.1  pre-B-cell leukemia transcription factor 3 isoform X4

    Conserved Domains (2) summary
    cd00086
    Location:161221
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03792
    Location:1159
    PBC; PBC domain
  5. XM_011518755.2XP_011517057.1  pre-B-cell leukemia transcription factor 3 isoform X2

    Conserved Domains (2) summary
    cd00086
    Location:161242
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03792
    Location:1159
    PBC; PBC domain
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