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Entry version 172 (07 Apr 2021)
Sequence version 2 (19 Dec 2001)
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Protein

PAX3- and PAX7-binding protein 1

Gene

PAXBP1

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

Adapter protein linking the transcription factors PAX3 and PAX7 to the histone methylation machinery and involved in myogenesis. Associates with a histone methyltransferase complex that specifically mediates dimethylation and trimethylation of 'Lys-4' of histone H3. Mediates the recruitment of that complex to the transcription factors PAX3 and PAX7 on chromatin to regulate the expression of genes involved in muscle progenitor cells proliferation including ID3 and CDC20 (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 functionDNA-binding
Biological processMyogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9Y5B6

<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%5Fand%5Ftaxonomy%5Fsection">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:
PAX3- and PAX7-binding protein 1
Alternative name(s):
GC-rich sequence DNA-binding factor 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:PAXBP1
Synonyms:C21orf66, GCFC, GCFC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 21

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:13579, PAXBP1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
617621, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y5B6

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000159086.14

<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

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
94104

Open Targets

More...
OpenTargetsi
ENSG00000159086

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25861

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y5B6, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PAXBP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20141448

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000874391 – 917PAX3- and PAX7-binding protein 1Add BLAST917

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei16PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki149Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki149Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei154PhosphoserineCombined sources1
Modified residuei155PhosphoserineCombined sources1
Modified residuei158PhosphoserineCombined sources1
Modified residuei191PhosphoserineCombined sources1
Modified residuei262PhosphoserineCombined sources1
Modified residuei295PhosphoserineCombined sources1
Modified residuei557PhosphoserineCombined sources1
Modified residuei558PhosphoserineCombined sources1
Modified residuei563PhosphothreonineBy similarity1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9Y5B6

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9Y5B6

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9Y5B6

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

More...
PaxDbi
Q9Y5B6

PeptideAtlas

More...
PeptideAtlasi
Q9Y5B6

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y5B6

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
86332 [Q9Y5B6-1]
86333 [Q9Y5B6-2]
86334 [Q9Y5B6-3]
86335 [Q9Y5B6-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9Y5B6

MetOSite database of methionine sulfoxide sites

More...
MetOSitei
Q9Y5B6

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

More...
PhosphoSitePlusi
Q9Y5B6

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000159086, Expressed in sural nerve and 229 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y5B6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y5B6, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000159086, Low tissue specificity

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with PAX3 and PAX7.

Interacts with WDR5; associates with a histone methyltransferase (HMT) complex composed at least of RBBP5, ASH2L, SET1, SET2 and KMT2A/MLL1, KMT2D/MLL2, KMT2C/MLL3 and KMT2B/MLL4 through direct interaction with WDR5 (By similarity).

By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
125115, 57 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9Y5B6

Protein interaction database and analysis system

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IntActi
Q9Y5B6, 21 interactors

Molecular INTeraction database

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MINTi
Q9Y5B6

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000328992

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9Y5B6, protein

<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

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

More...
SMRi
Q9Y5B6

Database of comparative protein structure models

More...
ModBasei
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

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>Regioni378 – 558Necessary and sufficient for interaction with PAX7By similarityAdd BLAST181

<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 GCF family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2136, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000000455

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_010846_3_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y5B6

Identification of Orthologs from Complete Genome Data

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OMAi
STQRTKN

Database of Orthologous Groups

More...
OrthoDBi
798081at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y5B6

TreeFam database of animal gene trees

More...
TreeFami
TF315109

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR012890, GCFC2-like
IPR022783, GCFC_dom

The PANTHER Classification System

More...
PANTHERi
PTHR12214, PTHR12214, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07842, GCFC, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 4 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y5B6-1) [UniParc]FASTAAdd to basket
Also known as: A

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MFRKARRVNV RKRNDSEEEE RERDEEQEPP PLLPPPGTGE EAGPGGGDRA
60 70 80 90 100
PGGESLLGPG PSPPSALTPG LGAEAGGGFP GGAEPGNGLK PRKRPRENKE
110 120 130 140 150
VPRASLLSFQ DEEEENEEVF KVKKSSYSKK IVKLLKKEYK EDLEKSKIKT
160 170 180 190 200
ELNSSAESEQ PLDKTGHVKD TNQEDGVIIS EHGEDEMDME SEKEEEKPKT
210 220 230 240 250
GGAFSNALSS LNVLRPGEIP DAAFIHAARK KRQMARELGD FTPHDNEPGK
260 270 280 290 300
GRLVREDEND ASDDEDDDEK RRIVFSVKEK SQRQKIAEEI GIEGSDDDAL
310 320 330 340 350
VTGEQDEELS RWEQEQIRKG INIPQVQASQ PAEVNMYYQN TYQTMPYGSS
360 370 380 390 400
YGIPYSYTAY GSSDAKSQKT DNTVPFKTPS NEMTPVTIDL VKKQLKDRLD
410 420 430 440 450
SMKELHKTNR QQHEKHLQSR VDSTRAIERL EGSSGGIGER YKFLQEMRGY
460 470 480 490 500
VQDLLECFSE KVPLINELES AIHQLYKQRA SRLVQRRQDD IKDESSEFSS
510 520 530 540 550
HSNKALMAPN LDSFGRDRAL YQEHAKRRIA EREARRTRRR QAREQTGKMA
560 570 580 590 600
DHLEGLSSDD EETSTDITNF NLEKDRISKE SGKVFEDVLE SFYSIDCIKS
610 620 630 640 650
QFEAWRSKYY TSYKDAYIGL CLPKLFNPLI RLQLLTWTPL EAKCRDFENM
660 670 680 690 700
LWFESLLFYG CEEREQEKDD VDVALLPTIV EKVILPKLTV IAENMWDPFS
710 720 730 740 750
TTQTSRMVGI TLKLINGYPS VVNAENKNTQ VYLKALLLRM RRTLDDDVFM
760 770 780 790 800
PLYPKNVLEN KNSGPYLFFQ RQFWSSVKLL GNFLQWYGIF SNKTLQELSI
810 820 830 840 850
DGLLNRYILM AFQNSEYGDD SIKKAQNVIN CFPKQWFMNL KGERTISQLE
860 870 880 890 900
NFCRYLVHLA DTIYRNSIGC SDVEKRNARE NIKQIVKLLA SVRALDHAMS
910
VASDHNVKEF KSLIEGK
Length:917
Mass (Da):104,804
Last modified:December 19, 2001 - v2
<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:i855960A1D50A7789
GO
Isoform 2 (identifier: Q9Y5B6-2) [UniParc]FASTAAdd to basket
Also known as: B

The sequence of this isoform differs from the canonical sequence as follows:
     779-917: LLGNFLQWYG...KEFKSLIEGK → VIKPPFQRGS...WTDRPCVVFS

Show »
Length:815
Mass (Da):93,170
Checksum:iA2843B97BBEA753E
GO
Isoform 3 (identifier: Q9Y5B6-3) [UniParc]FASTAAdd to basket
Also known as: C

The sequence of this isoform differs from the canonical sequence as follows:
     462-469: VPLINELE → SVQFRKLL
     470-917: Missing.

Show »
Length:469
Mass (Da):52,611
Checksum:i96B04F480DFFAEDD
GO
Isoform 4 (identifier: Q9Y5B6-4) [UniParc]FASTAAdd to basket
Also known as: D

The sequence of this isoform differs from the canonical sequence as follows:
     503-511: NKALMAPNL → SQSILKTKL
     512-917: Missing.

Note: Most abundantly expressed isoform, at mRNA level according to PubMed:11707072, despite the presence of a premature stop codon in the mRNA that may lead to nonsense-mediated mRNA decay.Curated
Show »
Length:511
Mass (Da):57,431
Checksum:i2D90273749BD50FE
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BZC8H7BZC8_HUMAN
PAX3- and PAX7-binding protein 1
PAXBP1
36Annotation 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>
H7C2W4H7C2W4_HUMAN
PAX3- and PAX7-binding protein 1
PAXBP1
25Annotation 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 AAD34617 differs from that shown. Contaminating sequence. Sequence of unknown origin in the N-terminal part.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti692 – 711Missing in AAD34617 (Ref. 5) CuratedAdd BLAST20

Natural variant

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_079417538R → C Found in a family with global developmental delay and myopathic hypotonia; unknown pathological significance. 1 Publication1

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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_004263462 – 469VPLINELE → SVQFRKLL in isoform 3. 1 Publication8
Alternative sequenceiVSP_004264470 – 917Missing in isoform 3. 1 PublicationAdd BLAST448
Alternative sequenceiVSP_004265503 – 511NKALMAPNL → SQSILKTKL in isoform 4. 2 Publications9
Alternative sequenceiVSP_004266512 – 917Missing in isoform 4. 2 PublicationsAdd BLAST406
Alternative sequenceiVSP_004267779 – 917LLGNF…LIEGK → VIKPPFQRGSCPIPRRKECC SERPRRIWTDRPCVVFS in isoform 2. 2 PublicationsAdd BLAST139

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
AY033903 mRNA Translation: AAK68721.1
AY033904 mRNA Translation: AAK68722.1
AY033905 mRNA Translation: AAK68723.1
AY033906 mRNA Translation: AAK68724.1
AJ279080 mRNA Translation: CAC40813.1
AJ279081 mRNA Translation: CAC40814.1
CH471079 Genomic DNA Translation: EAX09859.1
CH471079 Genomic DNA Translation: EAX09861.1
AF231920 mRNA Translation: AAF72944.1
AF153208 mRNA Translation: AAD34617.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13619.1 [Q9Y5B6-1]
CCDS33541.1 [Q9Y5B6-2]

NCBI Reference Sequences

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RefSeqi
NP_037461.2, NM_013329.3 [Q9Y5B6-2]
NP_057715.2, NM_016631.3 [Q9Y5B6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000290178; ENSP00000290178; ENSG00000159086 [Q9Y5B6-2]
ENST00000331923; ENSP00000328992; ENSG00000159086 [Q9Y5B6-1]
ENST00000443785; ENSP00000393038; ENSG00000159086 [Q9Y5B6-4]
ENST00000573680; ENSP00000458892; ENSG00000263141
ENST00000574159; ENSP00000458262; ENSG00000263141

Database of genes from NCBI RefSeq genomes

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GeneIDi
94104

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:94104

UCSC genome browser

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UCSCi
uc002yqn.3, human [Q9Y5B6-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AY033903 mRNA Translation: AAK68721.1
AY033904 mRNA Translation: AAK68722.1
AY033905 mRNA Translation: AAK68723.1
AY033906 mRNA Translation: AAK68724.1
AJ279080 mRNA Translation: CAC40813.1
AJ279081 mRNA Translation: CAC40814.1
CH471079 Genomic DNA Translation: EAX09859.1
CH471079 Genomic DNA Translation: EAX09861.1
AF231920 mRNA Translation: AAF72944.1
AF153208 mRNA Translation: AAD34617.1 Sequence problems.
CCDSiCCDS13619.1 [Q9Y5B6-1]
CCDS33541.1 [Q9Y5B6-2]
RefSeqiNP_037461.2, NM_013329.3 [Q9Y5B6-2]
NP_057715.2, NM_016631.3 [Q9Y5B6-1]

3D structure databases

SMRiQ9Y5B6
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi125115, 57 interactors
CORUMiQ9Y5B6
IntActiQ9Y5B6, 21 interactors
MINTiQ9Y5B6
STRINGi9606.ENSP00000328992

PTM databases

iPTMnetiQ9Y5B6
MetOSiteiQ9Y5B6
PhosphoSitePlusiQ9Y5B6

Genetic variation databases

BioMutaiPAXBP1
DMDMi20141448

Proteomic databases

EPDiQ9Y5B6
jPOSTiQ9Y5B6
MassIVEiQ9Y5B6
PaxDbiQ9Y5B6
PeptideAtlasiQ9Y5B6
PRIDEiQ9Y5B6
ProteomicsDBi86332 [Q9Y5B6-1]
86333 [Q9Y5B6-2]
86334 [Q9Y5B6-3]
86335 [Q9Y5B6-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
22645, 129 antibodies

The DNASU plasmid repository

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DNASUi
94104

Genome annotation databases

EnsembliENST00000290178; ENSP00000290178; ENSG00000159086 [Q9Y5B6-2]
ENST00000331923; ENSP00000328992; ENSG00000159086 [Q9Y5B6-1]
ENST00000443785; ENSP00000393038; ENSG00000159086 [Q9Y5B6-4]
ENST00000573680; ENSP00000458892; ENSG00000263141
ENST00000574159; ENSP00000458262; ENSG00000263141
GeneIDi94104
KEGGihsa:94104
UCSCiuc002yqn.3, human [Q9Y5B6-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
94104
DisGeNETi94104

GeneCards: human genes, protein and diseases

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GeneCardsi
PAXBP1
HGNCiHGNC:13579, PAXBP1
HPAiENSG00000159086, Low tissue specificity
MIMi617621, gene
neXtProtiNX_Q9Y5B6
OpenTargetsiENSG00000159086
PharmGKBiPA25861
VEuPathDBiHostDB:ENSG00000159086.14

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2136, Eukaryota
GeneTreeiENSGT00390000000455
HOGENOMiCLU_010846_3_0_1
InParanoidiQ9Y5B6
OMAiSTQRTKN
OrthoDBi798081at2759
PhylomeDBiQ9Y5B6
TreeFamiTF315109

Enzyme and pathway databases

PathwayCommonsiQ9Y5B6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
94104, 511 hits in 999 CRISPR screens

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

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ChiTaRSi
PAXBP1, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
C21orf66

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

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GenomeRNAii
94104
PharosiQ9Y5B6, Tbio

Protein Ontology

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PROi
PR:Q9Y5B6
RNActiQ9Y5B6, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000159086, Expressed in sural nerve and 229 other tissues
ExpressionAtlasiQ9Y5B6, baseline and differential
GenevisibleiQ9Y5B6, HS

Family and domain databases

InterProiView protein in InterPro
IPR012890, GCFC2-like
IPR022783, GCFC_dom
PANTHERiPTHR12214, PTHR12214, 1 hit
PfamiView protein in Pfam
PF07842, GCFC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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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 nameiPAXB1_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: Q9Y5B6
Secondary accession number(s): D3DSE7, Q96DU8, Q9NYQ0
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: December 19, 2001
Last modified: April 7, 2021
This is version 172 of the entry and version 2 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

Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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