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Protein

Paired box protein Pax-1

Gene

PAX1

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

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).By similarity

<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 functionActivator, Developmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P15863

<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-1
Alternative name(s):
HuP48
<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:PAX1
Synonyms:HUP48
<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 20

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000125813.13

Human Gene Nomenclature Database

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HGNCi
HGNC:8615 PAX1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
167411 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P15863

<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

Otofaciocervical syndrome 2 (OTFCS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615560
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_070922166G → V in OTFCS2; significantly reduced transactivation of the regulatory sequence of NKX3-2 in cells over-expressing the mutant sequence compared to cells over-expressing wild-type sequence. 1 PublicationCorresponds to variant dbSNP:rs540296842EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
5075

MalaCards human disease database

More...
MalaCardsi
PAX1
MIMi615560 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000125813

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

More...
Orphaneti
2792 Otofaciocervical syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA32955

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PAX1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439493

<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_00000501721 – 534Paired box protein Pax-1Add BLAST534

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P15863

PeptideAtlas

More...
PeptideAtlasi
P15863

PRoteomics IDEntifications database

More...
PRIDEi
P15863

ProteomicsDB human proteome resource

More...
ProteomicsDBi
53230
53231 [P15863-2]
53232 [P15863-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P15863

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

More...
PhosphoSitePlusi
P15863

<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

More...
Bgeei
ENSG00000125813 Expressed in 47 organ(s), highest expression level in tonsil

CleanEx database of gene expression profiles

More...
CleanExi
HS_PAX1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P15863 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P15863 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)

More...
BioGridi
111109, 2 interactors

Molecular INTeraction database

More...
MINTi
P15863

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000381499

<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

More...
ProteinModelPortali
P15863

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

More...
SMRi
P15863

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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>Domaini98 – 224PairedPROSITE-ProRule annotationAdd BLAST127

Keywords - Domaini

Paired box

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3517 Eukaryota
ENOG4111FI9 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159137

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000230938

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG009115

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P15863

KEGG Orthology (KO)

More...
KOi
K09382

Identification of Orthologs from Complete Genome Data

More...
OMAi
KMGSHHG

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0S4E

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P15863

TreeFam database of animal gene trees

More...
TreeFami
TF315397

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00131 PAX, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR009057 Homeobox-like_sf
IPR001523 Paired_dom
IPR033206 PAX1
IPR036388 WH-like_DNA-bd_sf

The PANTHER Classification System

More...
PANTHERi
PTHR24329:SF262 PTHR24329:SF262, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00292 PAX, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00027 PAIREDBOX

Simple Modular Architecture Research Tool; a protein domain database

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

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46689 SSF46689, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P15863-1) [UniParc]FASTAAdd to basket

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
MKFTLGLGSR AWRVSWEGAA AAAAGPGAGG SALRCRAQRV SSPRLGRRGS
60 70 80 90 100
RLSGALPLCL SRGGGGAQAL PDCAGPSPGH PGHPGARQLA GPLAMEQTYG
110 120 130 140 150
EVNQLGGVFV NGRPLPNAIR LRIVELAQLG IRPCDISRQL RVSHGCVSKI
160 170 180 190 200
LARYNETGSI LPGAIGGSKP RVTTPNVVKH IRDYKQGDPG IFAWEIRDRL
210 220 230 240 250
LADGVCDKYN VPSVSSISRI LRNKIGSLAQ PGPYEASKQP PSQPTLPYNH
260 270 280 290 300
IYQYPYPSPV SPTGAKMGSH PGVPGTAGHV SIPRSWPSAH SVSNILGIRT
310 320 330 340 350
FMEQTGALAG SEGTAYSPKM EDWAGVNRTA FPATPAVNGL EKPALEADIK
360 370 380 390 400
YTQSASTLSA VGGFLPACAY PASNQHGVYS APGGGYLAPG PPWPPAQGPP
410 420 430 440 450
LAPPGAGVAV HGGELAAAMT FKHPSREGSL PAPAARPRTP SVAYTDCPSR
460 470 480 490 500
PRPPRGSSPR TRARRERQAD PGAQVCAAAP AIGTGRIGGL AEEEASAGPR
510 520 530
GARPASPQAQ PCLWPDPPHF LYWSGFLGFS ELGF
Length:534
Mass (Da):55,499
Last modified:May 18, 2010 - v4
<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:i6B06A2AD302FDEEA
GO
Isoform 2 (identifier: P15863-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: MKFTLGLGSR...ARQLAGPLAM → MRRAPLRGSS...SGSLLSGASA
     428-534: GSLPAPAARP...GFLGFSELGF → VADRKPPSSGSKAPDALSSLHGLPIPASTS

Show »
Length:433
Mass (Da):45,118
Checksum:i0C7B15EABE3BC79E
GO
Isoform 3 (identifier: P15863-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: MKFTLGLGSR...ARQLAGPLAM → MRRAPLRGSS...SGSLLSGASA

Note: No experimental confirmation available.
Show »
Length:510
Mass (Da):53,393
Checksum:i0EB46FE06D86D72E
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WXV5A0A087WXV5_HUMAN
Paired box protein Pax-1
PAX1
457Annotation 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 AAH69134 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAU21037 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003787139Q → H Found in a patient with neural tube defects; unknown pathological significance. 1 Publication1
Natural variantiVAR_070922166G → V in OTFCS2; significantly reduced transactivation of the regulatory sequence of NKX3-2 in cells over-expressing the mutant sequence compared to cells over-expressing wild-type sequence. 1 PublicationCorresponds to variant dbSNP:rs540296842EnsemblClinVar.1
Natural variantiVAR_055369439T → R1 PublicationCorresponds to variant dbSNP:rs17861058Ensembl.1
Natural variantiVAR_055370453P → L1 PublicationCorresponds to variant dbSNP:rs17861059Ensembl.1
Natural variantiVAR_055371504P → L1 PublicationCorresponds to variant dbSNP:rs17861061Ensembl.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_0390951 – 95MKFTL…GPLAM → MRRAPLRGSSAPLPTPSQTQ AVCPWTPSCLGTHRSPLEVR LGAVPRSAWGPLANPPGVFS PSGSLLSGASA in isoform 2 and isoform 3. 1 PublicationAdd BLAST95
Alternative sequenceiVSP_039096428 – 534GSLPA…SELGF → VADRKPPSSGSKAPDALSSL HGLPIPASTS in isoform 2. 1 PublicationAdd BLAST107

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

More...
DDBJi
Links Updated
AK303335 mRNA Translation: BAG64398.1
AY740018 Genomic DNA Translation: AAU21037.1 Different initiation.
AL035562 Genomic DNA No translation available.
BC069134 mRNA Translation: AAH69134.1 Different initiation.
X15044 Genomic DNA Translation: CAA33146.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS13146.2 [P15863-1]

Protein sequence database of the Protein Information Resource

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PIRi
S06961

NCBI Reference Sequences

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RefSeqi
NP_006183.2, NM_006192.4 [P15863-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.122310

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000398485; ENSP00000381499; ENSG00000125813 [P15863-1]
ENST00000444366; ENSP00000410355; ENSG00000125813 [P15863-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
5075

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5075

UCSC genome browser

More...
UCSCi
uc002wsj.4 human [P15863-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK303335 mRNA Translation: BAG64398.1
AY740018 Genomic DNA Translation: AAU21037.1 Different initiation.
AL035562 Genomic DNA No translation available.
BC069134 mRNA Translation: AAH69134.1 Different initiation.
X15044 Genomic DNA Translation: CAA33146.1
CCDSiCCDS13146.2 [P15863-1]
PIRiS06961
RefSeqiNP_006183.2, NM_006192.4 [P15863-1]
UniGeneiHs.122310

3D structure databases

ProteinModelPortaliP15863
SMRiP15863
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111109, 2 interactors
MINTiP15863
STRINGi9606.ENSP00000381499

PTM databases

iPTMnetiP15863
PhosphoSitePlusiP15863

Polymorphism and mutation databases

BioMutaiPAX1
DMDMi296439493

Proteomic databases

PaxDbiP15863
PeptideAtlasiP15863
PRIDEiP15863
ProteomicsDBi53230
53231 [P15863-2]
53232 [P15863-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000398485; ENSP00000381499; ENSG00000125813 [P15863-1]
ENST00000444366; ENSP00000410355; ENSG00000125813 [P15863-2]
GeneIDi5075
KEGGihsa:5075
UCSCiuc002wsj.4 human [P15863-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5075
DisGeNETi5075
EuPathDBiHostDB:ENSG00000125813.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PAX1

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0040597
HGNCiHGNC:8615 PAX1
MalaCardsiPAX1
MIMi167411 gene
615560 phenotype
neXtProtiNX_P15863
OpenTargetsiENSG00000125813
Orphaneti2792 Otofaciocervical syndrome
PharmGKBiPA32955

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3517 Eukaryota
ENOG4111FI9 LUCA
GeneTreeiENSGT00940000159137
HOGENOMiHOG000230938
HOVERGENiHBG009115
InParanoidiP15863
KOiK09382
OMAiKMGSHHG
OrthoDBiEOG091G0S4E
PhylomeDBiP15863
TreeFamiTF315397

Enzyme and pathway databases

SIGNORiP15863

Miscellaneous databases

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

More...
ChiTaRSi
PAX1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PAX1

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

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GenomeRNAii
5075

Protein Ontology

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PROi
PR:P15863

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000125813 Expressed in 47 organ(s), highest expression level in tonsil
CleanExiHS_PAX1
ExpressionAtlasiP15863 baseline and differential
GenevisibleiP15863 HS

Family and domain databases

CDDicd00131 PAX, 1 hit
Gene3Di1.10.10.10, 2 hits
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR001523 Paired_dom
IPR033206 PAX1
IPR036388 WH-like_DNA-bd_sf
PANTHERiPTHR24329:SF262 PTHR24329:SF262, 1 hit
PfamiView protein in Pfam
PF00292 PAX, 1 hit
PRINTSiPR00027 PAIREDBOX
SMARTiView protein in SMART
SM00351 PAX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00034 PAIRED_1, 1 hit
PS51057 PAIRED_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiPAX1_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: P15863
Secondary accession number(s): B4E0D6
, Q642X9, Q6NTC0, Q9Y558
<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: April 1, 1990
Last sequence update: May 18, 2010
Last modified: December 5, 2018
This is version 172 of the entry and version 4 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. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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