Entity Details

Primary name PAX4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO43316
EntryNamePAX4_HUMAN
FullNamePaired box protein Pax-4
TaxID9606
Evidenceevidence at protein level
Length350
SequenceStatuscomplete
DateCreated1998-12-15
DateModified2021-06-02

Ontological Relatives

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0003677 DNA binding
GO:0005654 nucleoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0009887 animal organ morphogenesis
GO:0030154 cell differentiation
GO:0031018 endocrine pancreas development
GO:0048856 anatomical structure development
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR001523 Paired domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site
IPR033559 Paired box protein Pax-4FamilyFamily
IPR036388 Winged helix-like DNA-binding domain superfamilyFamilyHomologous superfamily
IPR043182 Paired DNA-binding domainDomainDomain
IPR043565 PAX familyFamilyFamily

Diseases

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Disease IDSourceNameDescription
612225 OMIMMaturity-onset diabetes of the young 9 (MODY9)A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. The disease is caused by variants affecting the gene represented in this entry.
612227 OMIMDiabetes mellitus, ketosis-prone (KPD)An atypical form of diabetes mellitus characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding. Disease susceptibility is associated with variants affecting the gene represented in this entry.
125853 OMIMDiabetes mellitus, non-insulin-dependent (NIDDM)A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Disease susceptibility is associated with variants affecting the gene represented in this entry.
222100 OMIMDiabetes mellitus, insulin-dependent (IDDM)A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
PAX4_HUMANFLNC_HUMANIntAct28514442 details
PAX4_HUMANHNRPU_HUMANIntAct30021884 details