InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PAX1

Summary

InnateDB Protein

IDBP-369045.5

Last Modified

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

Gene Symbol

PAX1

Protein Name

paired box 1

Synonyms

HUP48; OFC2;

Species

Homo sapiens

Ensembl Protein

ENSP00000410355

InnateDB Gene

IDBG-59158 (PAX1)

Protein Structure

UniProt Annotation

Function

This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus.

Disease Associations

Otofaciocervical syndrome 2 (OFC2) [MIM:615560]: A disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability. {ECO:0000269PubMed:23851939}. 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 4 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	3 [view]
Protein-DNA	1 [view]
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

Biological Process

GO:0001501	skeletal system development
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter

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

P15863

PhosphoSite

PhosphoSite-P15863

TrEMBL

UniProt Splice Variant

Entrez Gene

5075

UniGene

Hs.122310

RefSeq

HUGO

HGNC:8615

OMIM

167411

CCDS

HPRD

01332

IMGT

EMBL

AK303335 AL035562 AY740018 BC069134 X15044

GenPept

AAH69134 AAU21037 BAG64398 CAA33146 CAB46996 CAX12115