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UniProtKB - Q9Y5B6 (PAXB1_HUMAN)

Entry version 172 (07 Apr 2021)
Sequence version 2 (19 Dec 2001)
Previous versions | rss
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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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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)

More...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

More...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

More...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

More...Bgeei		ENSG00000159086, Expressed in sural nerve and 229 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		125115, 57 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9Y5B6

Protein interaction database and analysis system

More...IntActi		Q9Y5B6, 21 interactors

Molecular INTeraction database

More...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

More...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

More...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

More...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

More...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

More...GeneIDi		94104

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:94104

UCSC genome browser

More...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

More...Antibodypediai		22645, 129 antibodies

The DNASU plasmid repository

More...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

More...CTDi		94104
DisGeNETi94104

GeneCards: human genes, protein and diseases

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

GenAtlas: human gene database

More...GenAtlasi		Search...

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

More...BioGRID-ORCSi		94104, 511 hits in 999 CRISPR screens

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

More...ChiTaRSi		PAXBP1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		C21orf66

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

More...GenomeRNAii		94104
PharosiQ9Y5B6, Tbio

Protein Ontology

More...PROi		PR:Q9Y5B6
RNActiQ9Y5B6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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
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