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Aliases for PAX1 Gene

Aliases for PAX1 Gene

  • Paired Box 1 2 3
  • Paired Box Gene 1 2 3
  • HUP48 3 4
  • OFC2 3 6
  • Paired Box Protein Pax-1 3
  • Paired Domain Gene HuP48 3

External Ids for PAX1 Gene

Previous GeneCards Identifiers for PAX1 Gene

  • GC20P021675
  • GC20P021682
  • GC20P021634

Summaries for PAX1 Gene

Entrez Gene Summary for PAX1 Gene

  • This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]

GeneCards Summary for PAX1 Gene

PAX1 (Paired Box 1) is a Protein Coding gene. Diseases associated with PAX1 include otofaciocervical syndrome 2 and otofaciocervical syndrome. An important paralog of this gene is PAX4.

UniProtKB/Swiss-Prot for PAX1 Gene

  • 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).

Gene Wiki entry for PAX1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAX1 Gene

Genomics for PAX1 Gene

Regulatory Elements for PAX1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PAX1 Gene

Start:
21,705,659 bp from pter
End:
21,718,486 bp from pter
Size:
12,828 bases
Orientation:
Plus strand

Genomic View for PAX1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PAX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAX1 Gene

Proteins for PAX1 Gene

  • Protein details for PAX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15863-PAX1_HUMAN
    Recommended name:
    Paired box protein Pax-1
    Protein Accession:
    P15863
    Secondary Accessions:
    • B4E0D6
    • Q642X9
    • Q6NTC0
    • Q9Y558

    Protein attributes for PAX1 Gene

    Size:
    534 amino acids
    Molecular mass:
    55499 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH69134.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAU21037.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for PAX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAX1 Gene

Proteomics data for PAX1 Gene at MOPED

Post-translational modifications for PAX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PAX1 Gene

No data available for DME Specific Peptides for PAX1 Gene

Domains for PAX1 Gene

Gene Families for PAX1 Gene

HGNC:
  • PAX :Paired boxes

Protein Domains for PAX1 Gene

Suggested Antigen Peptide Sequences for PAX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P15863

UniProtKB/Swiss-Prot:

PAX1_HUMAN :
  • P15863
Domain:
  • Contains 1 paired domain.
genes like me logo Genes that share domains with PAX1: view

Function for PAX1 Gene

Molecular function for PAX1 Gene

GENATLAS Biochemistry: paired box (DNA binding) containing protein 1,with homeo domain,expressed in the sclerotome,controlling chondrogenesis through SHH signaling,involved in the development of vertebral column,homologous to undulated
UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for PAX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with PAX1: view
genes like me logo Genes that share phenotypes with PAX1: view

Animal Models for PAX1 Gene

MGI Knock Outs for PAX1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for PAX1 Gene

Localization for PAX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAX1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PAX1 Gene COMPARTMENTS Subcellular localization image for PAX1 gene
Compartment Confidence
nucleus 5
extracellular 1

Gene Ontology (GO) - Cellular Components for PAX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with PAX1: view

Pathways for PAX1 Gene

SuperPathways for PAX1 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Stem Cell Transcription Factors in human,mouse,rat
    • T-cell & B-cell Activation in human,mouse,rat

Gene Ontology (GO) - Biological Process for PAX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 9671740
GO:0001756 somitogenesis IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006366 transcription from RNA polymerase II promoter TAS 1358810
GO:0007389 pattern specification process --
genes like me logo Genes that share ontologies with PAX1: view

No data available for Pathways by source for PAX1 Gene

Transcripts for PAX1 Gene

mRNA/cDNA for PAX1 Gene

(5) Selected AceView cDNA sequences:
(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PAX1 Gene

Paired box 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PAX1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAX1 Gene

No ASD Table

Relevant External Links for PAX1 Gene

GeneLoc Exon Structure for
PAX1
ECgene alternative splicing isoforms for
PAX1

Expression for PAX1 Gene

mRNA expression in normal human tissues for PAX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PAX1 Gene

This gene is overexpressed in Esophagus - Mucosa (8.7), Muscle - Skeletal (7.6), Thyroid (7.2), Skin - Sun Exposed (Lower leg) (5.6), and Minor Salivary Gland (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PAX1 Gene

SOURCE GeneReport for Unigene cluster for PAX1 Gene Hs.122310

genes like me logo Genes that share expressions with PAX1: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for PAX1 Gene

Orthologs for PAX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PAX1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PAX1 35
  • 88.54 (n)
  • 89.96 (a)
PAX1 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PAX1 35
  • 89.96 (n)
  • 91.52 (a)
PAX1 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pax1 35
  • 86.92 (n)
  • 91.7 (a)
Pax1 16
Pax1 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PAX1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAX1 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAX1 35
  • 79.39 (n)
  • 80.06 (a)
PAX1 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PAX1 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pax1 35
  • 70.69 (n)
  • 75.56 (a)
zebrafish
(Danio rerio)
Actinopterygii pax1a 35
  • 68.56 (n)
  • 73.3 (a)
pax1a 36
  • 69 (a)
OneToMany
pax1b 36
  • 66 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Poxm 36
  • 41 (a)
OneToMany
sv 37
  • 69 (a)
Poxn 37
  • 66 (a)
Poxm 37
  • 88 (a)
worm
(Caenorhabditis elegans)
Secernentea pax-1 36
  • 42 (a)
OneToMany
K07C11.1 37
  • 72 (a)
egl-38 37
  • 67 (a)
K06B9.5 37
  • 63 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for PAX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PAX1 Gene

ENSEMBL:
Gene Tree for PAX1 (if available)
TreeFam:
Gene Tree for PAX1 (if available)

Paralogs for PAX1 Gene

Paralogs for PAX1 Gene

Selected SIMAP similar genes for PAX1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PAX1: view

Variants for PAX1 Gene

Sequence variations from dbSNP and Humsavar for PAX1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs1009739 -- 21,712,680(-) GTTAT(C/T)TTTAA intron-variant
rs6035934 -- 21,709,698(+) AGAGG(A/T)GAAAG intron-variant
rs6047586 -- 21,706,003(+) GGTAA(A/G)GGGCG intron-variant
rs6047587 -- 21,706,040(+) GATGA(A/G)GTGGG intron-variant
rs6047588 -- 21,707,534(+) TCTAA(A/G)GTCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PAX1 Gene

Variant ID Type Subtype PubMed ID
nsv828703 CNV Gain 20364138

Relevant External Links for PAX1 Gene

HapMap Linkage Disequilibrium report
PAX1
Human Gene Mutation Database (HGMD)
PAX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAX1 Gene

Disorders for PAX1 Gene

(1) OMIM Diseases for PAX1 Gene (167411)

UniProtKB/Swiss-Prot

PAX1_HUMAN
  • 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:0000269 PubMed:23851939}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for PAX1 Gene

(1) Novoseek inferred disease relationships for PAX1 Gene

Disease -log(P) Hits PubMed IDs
vertebral anomalies 74.7 2

Relevant External Links for PAX1

Genetic Association Database (GAD)
PAX1
Human Genome Epidemiology (HuGE) Navigator
PAX1
genes like me logo Genes that share disorders with PAX1: view

Publications for PAX1 Gene

  1. Pax1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH). (PMID: 1358810) Schnittger S. … Hansmann I. (Genomics 1992) 2 3 23
  2. Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review. (PMID: 12833407) Bannykh S.I. … Masliah E. (Am. J. Med. Genet. A 2003) 3 23
  3. Conservation of the paired domain in metazoans and its structure in three isolated human genes. (PMID: 2501086) Burri M. … Noll M. (EMBO J. 1989) 3 4
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  5. PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida. (PMID: 8863157) Hol F.A. … Mariman E.C.M. (J. Med. Genet. 1996) 3 4

Products for PAX1 Gene

Sources for PAX1 Gene

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