Gene

pax1b

ID
ZDB-GENE-060503-372
Name
paired box 1b
Symbol
pax1b Nomenclature History
Previous Names
  • si:dkeyp-50f5.1
Type
protein_coding_gene
Location
Chr: 20 Mapping Details/Browsers
Description
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within chordate embryonic development; cranial skeletal system development; and pectoral fin development. Predicted to be located in nucleus. Is expressed in several structures, including axial blood vessel; fin bud; notochord; pharyngeal endoderm; and pharyngeal pouch. Human ortholog(s) of this gene implicated in branchiootorenal syndrome. Orthologous to human PAX1 (paired box 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
7 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
as37Allele with one deletionExon 2Premature StopCRISPR
kt1106Allele with one deletionUnknownUnknownCRISPR
sa43535Allele with one point mutationUnknownPremature StopENU
zf4131Allele with one deletionUnknownUnknownCRISPR
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Sequence Targeting Reagents
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Human Disease
Associated With pax1b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Otofaciocervical syndrome 2 with T-cell deficiency 615560
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Associated With pax1b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001523 Paired domain
Domain IPR043182 Paired DNA-binding domain
Family IPR043565 PAX family
Homologous_superfamily IPR009057 Homedomain-like superfamily
Homologous_superfamily IPR036388 Winged helix-like DNA-binding domain superfamily
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Domain Details Per Protein
Protein Additional Resources Length Homedomain-like superfamily Paired DNA-binding domain Paired domain PAX family Winged helix-like DNA-binding domain superfamily
UniProtKB:B0S7C8 InterPro 340
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 20
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA pax1b-201 (1) Ensembl 1,659 nt
mRNA pax1b-202 (1) Ensembl 4,794 nt
mRNA pax1b-203 (1) Ensembl 3,407 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEYP-50F5ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanPAX120
Amino acid sequence comparison (2)
Conserved genome location (synteny) (1)
MousePax12
Amino acid sequence comparison (2)
Conserved genome location (synteny) (1)
Citations
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