Seroatlas · Human Serome Atlas

PITX1

Pituitary homeobox 1

Also known as: BFT, PITX1_HUMAN, POTX, PTX1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P78337
Gene: PITX1
Ensembl: ENSG00000069011
Chromosome: 5
Canonical length: 314 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoli

OverviewNCBI Gene

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

314 residues, UniProt reviewed canonical sequence.

>P78337|PITX1
     1  MDAFKGGMSL ERLPEGLRPP PPPPHDMGPA FHLARPADPR EPLENSASES SDTELPEKER
    61  GGEPKGPEDS GAGGTGCGGA DDPAKKKKQR RQRTHFTSQQ LQELEATFQR NRYPDMSMRE
   121  EIAVWTNLTE PRVRVWFKNR RAKWRKRERN QQLDLCKGGY VPQFSGLVQP YEDVYAAGYS
   181  YNNWAAKSLA PAPLSTKSFT FFNSMSPLSS QSMFSAPSSI SSMTMPSSMG PGAVPGMPNS
   241  GLNNINNLTG SSLNSAMSPG ACPYGTPASP YSVYRDTCNS SLASLRLKSK QHSSFGYGGL
   301  QGPASGLNAC QYNS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PITX1 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): 0.62
Highest tissue expression: 701 nTPM

Expression across tissuesHPA

Tissue

esophagus: 701 nTPM
vagina: 195 nTPM
pituitary gland: 158 nTPM
cervix: 135 nTPM
salivary gland: 129 nTPM
urinary bladder: 72 nTPM

Single-cell type

esophageal apical cells: 3,695 nCPM
esophageal suprabasal cells: 1,805 nCPM
esophageal basal cells: 919 nCPM
suprabasal keratinocytes: 838 nCPM
basal keratinocytes: 313 nCPM
gonadotrophs: 253 nCPM

Immune cell

basophil: 0.2 nTPM
memory CD8 T-cell: 0.1 nTPM
naive CD8 T-cell: 0.1 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM

Brain region

choroid plexus: 9.6 nTPM
hypothalamus: 2.1 nTPM
cerebellum: 1.7 nTPM
hippocampal formation: 1.7 nTPM
midbrain: 1.7 nTPM
medulla oblongata: 1.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PITX1.

Disease | AllUniProt

Conditions PITX1 is implicated in, by any mechanism.

Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF) MIM:119800
Liebenberg syndrome (LBNBG) MIM:186550

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 117 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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): 0.42
gnomAD pLI: 0.88
gnomAD missense Z: 1.31
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PITX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PITX1 as an antibody target. Whether an autoantibody or antibody against PITX1 could matter depends on whether native PITX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PITX1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PITX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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