PAX1

Protein identityUniProt · HPA

UniProt accession

P15863

Gene

PAX1

Ensembl

ENSG00000125813

Chromosome

20

Canonical length

534 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

534 residues, UniProt reviewed canonical sequence.

>P15863|PAX1
     1  MKFTLGLGSR AWRVSWEGAA AAAAGPGAGG SALRCRAQRV SSPRLGRRGS RLSGALPLCL
    61  SRGGGGAQAL PDCAGPSPGH PGHPGARQLA GPLAMEQTYG EVNQLGGVFV NGRPLPNAIR
   121  LRIVELAQLG IRPCDISRQL RVSHGCVSKI LARYNETGSI LPGAIGGSKP RVTTPNVVKH
   181  IRDYKQGDPG IFAWEIRDRL LADGVCDKYN VPSVSSISRI LRNKIGSLAQ PGPYEASKQP
   241  PSQPTLPYNH IYQYPYPSPV SPTGAKMGSH PGVPGTAGHV SIPRSWPSAH SVSNILGIRT
   301  FMEQTGALAG SEGTAYSPKM EDWAGVNRTA FPATPAVNGL EKPALEADIK YTQSASTLSA
   361  VGGFLPACAY PASNQHGVYS APGGGYLAPG PPWPPAQGPP LAPPGAGVAV HGGELAAAMT
   421  FKHPSREGSL PAPAARPRTP SVAYTDCPSR PRPPRGSSPR TRARRERQAD PGAQVCAAAP
   481  AIGTGRIGGL AEEEASAGPR GARPASPQAQ PCLWPDPPHF LYWSGFLGFS ELGF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PAX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.66

Highest tissue expression

153 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PAX1.

Disease | AllUniProt

Conditions PAX1 is implicated in, by any mechanism.

• Otofaciocervical syndrome 2, with T-cell deficiency (OTFCS2) MIM:615560

Disease | GeneticClinVar

23 pathogenic / likely-pathogenic of 517 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Otofaciocervical syndrome 2
• Craniofacial microsomia
• PAX1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.5

gnomAD pLI

0.7

gnomAD missense Z

-0.76

DepMap mean gene effect

0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• embryo development ending in birth or egg hatching
• regulation of transcription by RNA polymerase II
• skeletal system development
• transcription by RNA polymerase II

Molecular functions

• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Paired domain
• Homedomain-like superfamily
• Winged helix-like DNA-binding domain superfamily
• Paired DNA-binding site
• PAX family
• 'Paired box' domain

KeywordsUniProt

• Activator
• Deafness
• Developmental protein
• DNA-binding
• Intellectual disability
• Nucleus
• Paired box
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of PAX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PPM1E
• MEOX1