InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PAX9

Summary

InnateDB Protein

IDBP-294694.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PAX9

Protein Name

paired box 9

Synonyms

STHAG3;

Species

Homo sapiens

Ensembl Protein

ENSP00000384817

InnateDB Gene

IDBG-5047 (PAX9)

Protein Structure

UniProt Annotation

Function

Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs. {ECO:0000250}.

Subcellular Localization

Nucleus.

Disease Associations

Tooth agenesis selective 3 (STHAG3) [MIM:604625]: A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). {ECO:0000269PubMed:12786960}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	11 [view]
Protein-Protein	11 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0005515	protein binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0045892	negative regulation of transcription, DNA-templated

Cellular Component

GO:0005634

nucleus

Protein Structure and Domains

PDB ID

InterPro

IPR001523 Paired domain
IPR009057 Homeodomain-like

PFAM

PF00292

PRINTS

PR00027

PIRSF

SMART

SM00351

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

PhosphoSite

PhosphoSite-P55771

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

RefSeq

HUGO

OMIM

CCDS

HPRD

IMGT

EMBL

AB248958 AJ238381 AJ238382 AJ238383 AY338688 BC001159 CH471078 HM214021 HM214022 HM214023 HM214024 HM214025 HM214026 HM214027 HM214028 HM214029 HM214030 HM214031 HM214032 HM214033 HM214034 HM214035 HM214036 HM214037 HM214038 HM214039 HM214040 HM214041 HM214042 HM214043 HM214044 HM214045 HM214046 HM214047 HM214048 HM214051 HM214052 HM214054 HM214055 HM214056 HM214057 HM214059 HM214060 HM214061 HM214062 HM214063 HM214065 HM214067 HM214068 HM214069 HM214070 HM214071 HM214072 HM214073 HM214074 HM214075 HM214077 HM214079 HM214080 HM214081 HM214082 HM214085 HM214087 HM214088 HM214089 HM214090 HM214091 HM214092 HM214093 HM214094 HM214095 HM214096 HM214097 HM214099 HM214100 HM214101 HM214102 HM214103 HM214104 HM214106 HM214107 HM214108 HM214109 HM214110 HM214111 HM214114 HM214116 HM214118 HM214119 HM214120 HM214121 HM214122 HM214123 HM214124 HM214125 HM214126 HM214127 HM214128 HM214129 HM214130 HM214131 HM214132 HM214133 HM214134 HM214135 HM214136 HM214137 HM214138 HM214139 HM214140 L09745 X92850

GenPept

AAH01159 AAQ16120 ADR64954 ADR64955 ADR64956 ADR64957 ADR64958 ADR64959 ADR64960 ADR64961 ADR64962 ADR64963 ADR64964 ADR64965 ADR64966 ADR64967 ADR64968 ADR64969 ADR64970 ADR64971 ADR64972 ADR64973 ADR64974 ADR64975 ADR64976 ADR64977 ADR64978 ADR64979 ADR64980 ADR64981 ADR64984 ADR64985 ADR64987 ADR64988 ADR64989 ADR64990 ADR64992 ADR64993 ADR64994 ADR64995 ADR64996 ADR64998 ADR65000 ADR65001 ADR65002 ADR65003 ADR65004 ADR65005 ADR65006 ADR65007 ADR65008 ADR65010 ADR65012 ADR65013 ADR65014 ADR65015 ADR65018 ADR65020 ADR65021 ADR65022 ADR65023 ADR65024 ADR65025 ADR65026 ADR65027 ADR65028 ADR65029 ADR65030 ADR65032 ADR65033 ADR65034 ADR65035 ADR65036 ADR65037 ADR65039 ADR65040 ADR65041 ADR65042 ADR65043 ADR65044 ADR65047 ADR65049 ADR65051 ADR65052 ADR65053 ADR65054 ADR65055 ADR65056 ADR65057 ADR65058 ADR65059 ADR65060 ADR65061 ADR65062 ADR65063 ADR65064 ADR65065 ADR65066 ADR65067 ADR65068 ADR65069 ADR65070 ADR65071 ADR65072 ADR65073 BAE79273 CAA63436 CAB41533 EAW65853

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1)

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca