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Protein

Paired box protein Pax-4

Gene

PAX4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi170 – 229HomeoboxPROSITE-ProRule annotationAdd BLAST60

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processDifferentiation, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-210746 Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
O43316

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Paired box protein Pax-4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PAX4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000106331.14

Human Gene Nomenclature Database

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HGNCi
HGNC:8618 PAX4

Online Mendelian Inheritance in Man (OMIM)

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MIMi
167413 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43316

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Diabetes mellitus, non-insulin-dependent (NIDDM)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:125853
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_054881129R → W in NIDDM; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs114202595EnsemblClinVar.1
Diabetes mellitus, insulin-dependent (IDDM)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:222100
Diabetes mellitus, ketosis-prone (KPD)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:612227
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05488045R → W in KPD; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_054882141R → W in KPD; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs2233578EnsemblClinVar.1
Maturity-onset diabetes of the young 9 (MODY9)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612225
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054883172R → W in MODY9; the mutant sequence represses the activity of the insulin and glucagon promoters by only 35% compared to 50% and 57% respectively with wild-type sequence. 1 Publication1

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
5078

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
PAX4

MalaCards human disease database

More...
MalaCardsi
PAX4
MIMi125853 phenotype
222100 phenotype
612225 phenotype
612227 phenotype

Open Targets

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OpenTargetsi
ENSG00000106331

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
552 MODY

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA32958

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PAX4

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000501801 – 350Paired box protein Pax-4Add BLAST350

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O43316

PeptideAtlas

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PeptideAtlasi
O43316

PRoteomics IDEntifications database

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PRIDEi
O43316

ProteomicsDB human proteome resource

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ProteomicsDBi
48895
48896 [O43316-2]
48897 [O43316-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O43316

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O43316

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000106331 Expressed in 14 organ(s), highest expression level in mucosa of transverse colon

CleanEx database of gene expression profiles

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CleanExi
HS_PAX4

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O43316 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O43316 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111112, 4 interactors

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O43316

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O43316

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini5 – 131PairedPROSITE-ProRule annotationAdd BLAST127

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni278 – 350Transcription repressionAdd BLAST73

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the paired homeobox family.Curated

Keywords - Domaini

Homeobox, Paired box

Phylogenomic databases

Ensembl GeneTree

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GeneTreei
ENSGT00940000161709

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000230939

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG009115

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O43316

KEGG Orthology (KO)

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KOi
K08032

Database of Orthologous Groups

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OrthoDBi
890925at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O43316

TreeFam database of animal gene trees

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TreeFami
TF320146

Family and domain databases

Conserved Domains Database

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CDDi
cd00086 homeodomain, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR001523 Paired_dom
IPR033559 Pax-4
IPR036388 WH-like_DNA-bd_sf

The PANTHER Classification System

More...
PANTHERi
PTHR24329:SF14 PTHR24329:SF14, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00046 Homeodomain, 1 hit
PF00292 PAX, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00027 PAIREDBOX

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00389 HOX, 1 hit
SM00351 PAX, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46689 SSF46689, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
PS00034 PAIRED_1, 1 hit
PS51057 PAIRED_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O43316-1) [UniParc]FASTAAdd to basket
Also known as: Pax4

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MHQDGISSMN QLGGLFVNGR PLPLDTRQQI VRLAVSGMRP CDISRILKVS
60 70 80 90 100
NGCVSKILGR YYRTGVLEPK GIGGSKPRLA TPPVVARIAQ LKGECPALFA
110 120 130 140 150
WEIQRQLCAE GLCTQDKTPS VSSINRVLRA LQEDQGLPCT RLRSPAVLAP
160 170 180 190 200
AVLTPHSGSE TPRGTHPGTG HRNRTIFSPS QAEALEKEFQ RGQYPDSVAR
210 220 230 240 250
GKLATATSLP EDTVRVWFSN RRAKWRRQEK LKWEMQLPGA SQGLTVPRVA
260 270 280 290 300
PGIISAQQSP GSVPTAALPA LEPLGPSCYQ LCWATAPERC LSDTPPKACL
310 320 330 340 350
KPCWDCGSFL LPVIAPSCVD VAWPCLDASL AHHLIGGAGK ATPTHFSHWP
Length:350
Mass (Da):37,833
Last modified:June 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i2C2343AF16AEAAAC
GO
Isoform 2 (identifier: O43316-2) [UniParc]FASTAAdd to basket
Also known as: Pax4V

The sequence of this isoform differs from the canonical sequence as follows:
     239-257: Missing.
     258-350: QSPGSVPTAA...ATPTHFSHWP → AVPWQCAHSSPACPGTTGSLLLSAVLGNSTRKVSE

Show »
Length:273
Mass (Da):29,820
Checksum:i34658C1CBE7C81B5
GO
Isoform 3 (identifier: O43316-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: Missing.
     305-350: DCGSFLLPVI...ATPTHFSHWP → GHLPPQPNSL...PGCPLLYGLE

Show »
Length:343
Mass (Da):37,061
Checksum:iD58E65CD918472DA
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q3KNR5Q3KNR5_HUMAN
PAX4 protein
PAX4
257Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PPX4A0A1W2PPX4_HUMAN
Paired box protein Pax-4
PAX4
351Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MRB6A0A0A0MRB6_HUMAN
Paired box protein Pax-4
PAX4
349Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V4Q1G3V4Q1_HUMAN
Paired box protein Pax-4
PAX4
341Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KPG0J3KPG0_HUMAN
Paired box protein Pax-4
PAX4
348Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AC073934 differs from that shown. According to the human genome assembly there is a stop codon in position 349.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05487939R → Q1 PublicationCorresponds to variant dbSNP:rs115887120EnsemblClinVar.1
Natural variantiVAR_05488045R → W in KPD; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_054881129R → W in NIDDM; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs114202595EnsemblClinVar.1
Natural variantiVAR_054882141R → W in KPD; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs2233578EnsemblClinVar.1
Natural variantiVAR_054883172R → W in MODY9; the mutant sequence represses the activity of the insulin and glucagon promoters by only 35% compared to 50% and 57% respectively with wild-type sequence. 1 Publication1
Natural variantiVAR_054884191R → C1 PublicationCorresponds to variant dbSNP:rs114315130EnsemblClinVar.1
Natural variantiVAR_054885200R → H1 PublicationCorresponds to variant dbSNP:rs2233580EnsemblClinVar.1
Natural variantiVAR_054886200R → S1 PublicationCorresponds to variant dbSNP:rs3824004EnsemblClinVar.1
Isoform 3 (identifier: O43316-4)
Natural varianti321H → P Associated with susceptibility to IDDM. Corresponds to variant dbSNP:rs712701Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0364481 – 8Missing in isoform 3. 2 Publications8
Alternative sequenceiVSP_002359239 – 257Missing in isoform 2. CuratedAdd BLAST19
Alternative sequenceiVSP_002360258 – 350QSPGS…FSHWP → AVPWQCAHSSPACPGTTGSL LLSAVLGNSTRKVSE in isoform 2. CuratedAdd BLAST93
Alternative sequenceiVSP_036449305 – 350DCGSF…FSHWP → GHLPPQPNSLDSGLLCLPCP SSHCHLASLSGSQALLWPGC PLLYGLE in isoform 3. 2 PublicationsAdd BLAST46

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AB008913 mRNA Translation: BAA24506.1
AF043978 mRNA Translation: AAD02289.1
AC073934 Genomic DNA No translation available.
BC074761 mRNA Translation: AAH74761.1

NCBI Reference Sequences

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RefSeqi
NP_006184.2, NM_006193.2 [O43316-4]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.129706

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000341640; ENSP00000339906; ENSG00000106331 [O43316-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
5078

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5078

UCSC genome browser

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UCSCi
uc010lld.1 human [O43316-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB008913 mRNA Translation: BAA24506.1
AF043978 mRNA Translation: AAD02289.1
AC073934 Genomic DNA No translation available.
BC074761 mRNA Translation: AAH74761.1
RefSeqiNP_006184.2, NM_006193.2 [O43316-4]
UniGeneiHs.129706

3D structure databases

ProteinModelPortaliO43316
SMRiO43316
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111112, 4 interactors

PTM databases

iPTMnetiO43316
PhosphoSitePlusiO43316

Polymorphism and mutation databases

BioMutaiPAX4

Proteomic databases

jPOSTiO43316
PeptideAtlasiO43316
PRIDEiO43316
ProteomicsDBi48895
48896 [O43316-2]
48897 [O43316-4]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
5078
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000341640; ENSP00000339906; ENSG00000106331 [O43316-4]
GeneIDi5078
KEGGihsa:5078
UCSCiuc010lld.1 human [O43316-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
5078
DisGeNETi5078
EuPathDBiHostDB:ENSG00000106331.14

GeneCards: human genes, protein and diseases

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GeneCardsi
PAX4
GeneReviewsiPAX4

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0033508
HGNCiHGNC:8618 PAX4
MalaCardsiPAX4
MIMi125853 phenotype
167413 gene
222100 phenotype
612225 phenotype
612227 phenotype
neXtProtiNX_O43316
OpenTargetsiENSG00000106331
Orphaneti552 MODY
PharmGKBiPA32958

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00940000161709
HOGENOMiHOG000230939
HOVERGENiHBG009115
InParanoidiO43316
KOiK08032
OrthoDBi890925at2759
PhylomeDBiO43316
TreeFamiTF320146

Enzyme and pathway databases

ReactomeiR-HSA-210746 Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
SignaLinkiO43316

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
PAX4 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PAX4

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
5078

Protein Ontology

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PROi
PR:O43316

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000106331 Expressed in 14 organ(s), highest expression level in mucosa of transverse colon
CleanExiHS_PAX4
ExpressionAtlasiO43316 baseline and differential
GenevisibleiO43316 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
Gene3Di1.10.10.10, 2 hits
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR001523 Paired_dom
IPR033559 Pax-4
IPR036388 WH-like_DNA-bd_sf
PANTHERiPTHR24329:SF14 PTHR24329:SF14, 1 hit
PfamiView protein in Pfam
PF00046 Homeodomain, 1 hit
PF00292 PAX, 1 hit
PRINTSiPR00027 PAIREDBOX
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SM00351 PAX, 1 hit
SUPFAMiSSF46689 SSF46689, 2 hits
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
PS00034 PAIRED_1, 1 hit
PS51057 PAIRED_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPAX4_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O43316
Secondary accession number(s): O95161, Q6B0H0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: June 1, 1998
Last modified: January 16, 2019
This is version 175 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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