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Entry version 134 (16 Oct 2019)
Sequence version 2 (11 Jan 2011)
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Protein

PAX-interacting protein 1

Gene

PAXIP1

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

Involved in DNA damage response and in transcriptional regulation through histone methyltransferase (HMT) complexes. Plays a role in early development. In DNA damage response is required for cell survival after ionizing radiation. In vitro shown to be involved in the homologous recombination mechanism for the repair of double-strand breaks (DSBs). Its localization to DNA damage foci requires RNF8 and UBE2N. Recruits TP53BP1 to DNA damage foci and, at least in particular repair processes, effective DNA damage response appears to require the association with TP53BP1 phosphorylated by ATM at 'Ser-25'. Together with TP53BP1 regulates ATM association. Proposed to recruit PAGR1 to sites of DNA damage and the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage; the function is probably independent of MLL-containing histone methyltransferase (HMT) complexes. However, this function has been questioned (By similarity). Promotes ubiquitination of PCNA following UV irradiation and may regulate recruitment of polymerase eta and RAD51 to chromatin after DNA damage. Proposed to be involved in transcriptional regulation by linking MLL-containing histone methyltransferase (HMT) complexes to gene promoters by interacting with promoter-bound transcription factors such as PAX2. Associates with gene promoters that are known to be regulated by KMT2D/MLL2. During immunoglobulin class switching in activated B-cells is involved in trimethylation of histone H3 at 'Lys-4' and in transcription initiation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus; this function appears to involve the recruitment of MLL-containing HMT complexes. Conflictingly, its function in transcriptional regulation during immunoglobulin class switching is reported to be independent of the MLL2/MLL3 complex (By similarity).By similarity7 Publications

Caution

The terminology of MLL proteins in mammalia is not consistent also concerning the terminology of MLL protein-containing complexes. The decribed MLL2/MLL3 complex is commonly described as MLL3/MLL4 complex in literature.Curated

<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 - 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

Biological processDNA damage, DNA recombination, DNA repair, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-5693571 Nonhomologous End-Joining (NHEJ)

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

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SignaLinki
Q6ZW49

SIGNOR Signaling Network Open Resource

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SIGNORi
Q6ZW49

<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:
PAX-interacting protein 1
Alternative name(s):
PAX transactivation activation domain-interacting protein
<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:PAXIP1
Synonyms:PAXIP1L, PTIP
ORF Names:CAGF28
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8624 PAXIP1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
608254 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6ZW49

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, 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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi676W → A: Abolishes interaction with TP53BP1; prevents recruitment to DNA damage foci. 1 Publication1
Mutagenesisi910R → Q: Abolishes interaction with TP53BP1; impairs intact cellular response to DNA damage. 1 Publication1
Mutagenesisi929W → A: Abolishes interaction with TP53BP1; prevents recruitment to DNA damage foci. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
22976

Open Targets

More...
OpenTargetsi
ENSG00000157212

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA32964

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6ZW49

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PAXIP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
317373316

<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_00002962621 – 1069PAX-interacting protein 1Add BLAST1069

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 residuei227PhosphoserineBy similarity1
Modified residuei235PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q6ZW49

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q6ZW49

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q6ZW49

MaxQB - The MaxQuant DataBase

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MaxQBi
Q6ZW49

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

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PaxDbi
Q6ZW49

PeptideAtlas

More...
PeptideAtlasi
Q6ZW49

PRoteomics IDEntifications database

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PRIDEi
Q6ZW49

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
68459 [Q6ZW49-6]
68460 [Q6ZW49-1]
68461 [Q6ZW49-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6ZW49

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

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PhosphoSitePlusi
Q6ZW49

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000157212 Expressed in 207 organ(s), highest expression level in secondary oocyte

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q6ZW49 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q6ZW49 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA006694
HPA016950

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with the C-terminal transactivation domain of PAX2 (By similarity).

Forms a constitutive complex with PAGR1 independently of the MLL2/MLL3 complex (By similarity).

Interacts with TP53BP1 (when phosphorylated at the N-terminus by ATM) (PubMed:15456759, PubMed:17690115, PubMed:23727112).

Interacts with HLTF (PubMed:19723507).

Component of the KMT2 family MLL2/MLL3 complex (also named ASCOM complex), at least composed of the HMTs KMT2D and/or KMT2C, the common subunits ASH2L, RBBP5, WDR5 and DPY30, and the complex type-specific subunits PAXIP1/PTIP, PAGR1, NCOA6 and KDM6A; required for the association of PAGR1 with the MLL2/MLL3 complex (PubMed:17178841, PubMed:17500065, PubMed:17761849, PubMed:17925232).

Interacts with NUPR1; this interaction prevents PAXIP1 inhibition of PAX2 transcription factor activity (PubMed:11940591).

By similarity9 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116625, 269 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q6ZW49

Database of interacting proteins

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DIPi
DIP-41786N

Protein interaction database and analysis system

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IntActi
Q6ZW49, 33 interactors

Molecular INTeraction database

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MINTi
Q6ZW49

STRING: functional protein association networks

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STRINGi
9606.ENSP00000384048

<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

Secondary structure

11069
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q6ZW49

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
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>Domaini8 – 93BRCT 1PROSITE-ProRule annotationAdd BLAST86
Domaini94 – 183BRCT 2PROSITE-ProRule annotationAdd BLAST90
Domaini601 – 694BRCT 3PROSITE-ProRule annotationAdd BLAST94
Domaini703 – 779BRCT 4PROSITE-ProRule annotationAdd BLAST77
Domaini866 – 947BRCT 5PROSITE-ProRule annotationAdd BLAST82
Domaini970 – 1059BRCT 6PROSITE-ProRule annotationAdd BLAST90

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>Regioni94 – 183Interaction with PAGR1By similarityAdd BLAST90
Regioni590 – 1069Interaction with TP53BP1Add BLAST480

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi702 – 719Nuclear localization signalSequence analysisAdd BLAST18

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi223 – 250Glu-richAdd BLAST28
Compositional biasi406 – 624Gln-richAdd BLAST219

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The BRCT 1 and 2 domains mediate the interaction with PAGR1A.By similarity
The BRCT 5 and 6 domains mediate the association with the MLL2/MLL3 complex (By similarity). The BRCT 5 and 6 domains function as a single module and are necessary and sufficient for in vitro phospho-specific binding (substrates phosphorylated by the kinases ataxia telangiectasia-mutated (ATM), ataxia telangiectasia and RAD3-related (ATR) in response to gamma irradiation). In contrast, in vivo two pairs of BRCT domains (3-6) bind to phosphorylated TP53BP1 much more efficiently.By similarity

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2043 Eukaryota
ENOG410XSGS LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155757

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q6ZW49

KEGG Orthology (KO)

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KOi
K14972

Identification of Orthologs from Complete Genome Data

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OMAi
FTGFEPM

Database of Orthologous Groups

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OrthoDBi
840249at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q6ZW49

TreeFam database of animal gene trees

More...
TreeFami
TF329580

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.10190, 5 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001357 BRCT_dom
IPR036420 BRCT_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00533 BRCT, 1 hit
PF12738 PTCB-BRCT, 2 hits
PF16770 RTT107_BRCT_5, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00292 BRCT, 5 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52113 SSF52113, 5 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50172 BRCT, 5 hits

<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>. 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 (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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6ZW49-6) [UniParc]FASTAAdd to basket

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
MSDQAPKVPE EMFREVKYYA VGDIDPQVIQ LLKAGKAKEV SYNALASHII
60 70 80 90 100
SEDGDNPEVG EAREVFDLPV VKPSWVILSV QCGTLLPVNG FSPESCQIFF
110 120 130 140 150
GITACLSQVS SEDRSALWAL VTFYGGDCQL TLNKKCTHLI VPEPKGEKYE
160 170 180 190 200
CALKRASIKI VTPDWVLDCV SEKTKKDEAF YHPRLIIYEE EEEEEEEEEE
210 220 230 240 250
VENEEQDSQN EGSTDEKSSP ASSQEGSPSG DQQFSPKSNT EKSKGELMFD
260 270 280 290 300
DSSDSSPEKQ ERNLNWTPAE VPQLAAAKRR LPQGKEPGLI NLCANVPPVP
310 320 330 340 350
GNILPPEVRG NLMAAGQNLQ SSERSEMIAT WSPAVRTLRN ITNNADIQQM
360 370 380 390 400
NRPSNVAHIL QTLSAPTKNL EQQVNHSQQG HTNANAVLFS QVKVTPETHM
410 420 430 440 450
LQQQQQAQQQ QQQHPVLHLQ PQQIMQLQQQ QQQQISQQPY PQQPPHPFSQ
460 470 480 490 500
QQQQQQQAHP HQFSQQQLQF PQQQLHPPQQ LHRPQQQLQP FQQQHALQQQ
510 520 530 540 550
FHQLQQHQLQ QQQLAQLQQQ HSLLQQQQQQ QIQQQQLQRM HQQQQQQQMQ
560 570 580 590 600
SQTAPHLSQT SQALQHQVPP QQPPQQQQQQ QPPPSPQQHQ LFGHDPAVEI
610 620 630 640 650
PEEGFLLGCV FAIADYPEQM SDKQLLATWK RIIQAHGGTV DPTFTSRCTH
660 670 680 690 700
LLCESQVSSA YAQAIRERKR CVTAHWLNTV LKKKKMVPPH RALHFPVAFP
710 720 730 740 750
PGGKPCSQHI ISVTGFVDSD RDDLKLMAYL AGAKYTGYLC RSNTVLICKE
760 770 780 790 800
PTGLKYEKAK EWRIPCVNAQ WLGDILLGNF EALRQIQYSR YTAFSLQDPF
810 820 830 840 850
APTQHLVLNL LDAWRVPLKV SAELLMSIRL PPKLKQNEVA NVQPSSKRAR
860 870 880 890 900
IEDVPPPTKK LTPELTPFVL FTGFEPVQVQ QYIKKLYILG GEVAESAQKC
910 920 930 940 950
THLIASKVTR TVKFLTAISV VKHIVTPEWL EECFRCQKFI DEQNYILRDA
960 970 980 990 1000
EAEVLFSFSL EESLKRAHVS PLFKAKYFYI TPGICPSLST MKAIVECAGG
1010 1020 1030 1040 1050
KVLSKQPSFR KLMEHKQNSS LSEIILISCE NDLHLCREYF ARGIDVHNAE
1060
FVLTGVLTQT LDYESYKFN
Length:1,069
Mass (Da):121,341
Last modified:January 11, 2011 - 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:i78CD535A150E1FC1
GO
Isoform 2 (identifier: Q6ZW49-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-108: MSDQAPKVPE...FFGITACLSQ → MVFLQNHVRF...QAEASVVMCW

Show »
Length:1,035
Mass (Da):117,690
Checksum:i3AB758354881AF7D
GO
Isoform 3 (identifier: Q6ZW49-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-247: Missing.

Note: No experimental confirmation available.
Show »
Length:822
Mass (Da):93,882
Checksum:i06D81BB07A314ED0
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
H7BZI8H7BZI8_HUMAN
PAX-interacting protein 1
PAXIP1
173Annotation 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>
F8WC23F8WC23_HUMAN
PAX-interacting protein 1
PAXIP1
147Annotation 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 AAB91434 differs from that shown. Reason: Frameshift.Curated
The sequence AAH33781 differs from that shown. Contaminating sequence.Curated
The sequence AAH33781 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAP21865 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAC85523 differs from that shown. Intron retention.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 conflicti121V → D in AK307417 (PubMed:14702039).Curated1
Sequence conflicti154K → R in CAE45762 (PubMed:17974005).Curated1
Sequence conflicti260Q → H in CAE45762 (PubMed:17974005).Curated1
Sequence conflicti406Missing in AK307417 (PubMed:14702039).Curated1
Sequence conflicti458 – 581Missing in AAB91434 (PubMed:9225980).CuratedAdd BLAST124
Sequence conflicti847K → Q in AAB91434 (PubMed:9225980).Curated1
Sequence conflicti912V → L in AAB91434 (PubMed:9225980).Curated1
Sequence conflicti916T → A in AAB91434 (PubMed:9225980).Curated1

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_0346271013M → V1 PublicationCorresponds to variant dbSNP:rs3501Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0403031 – 247Missing in isoform 3. 1 PublicationAdd BLAST247
Alternative sequenceiVSP_0403001 – 108MSDQA…ACLSQ → MVFLQNHVRFFLESLPAFLR VLIQAGALCWSLPELSQGEV GKGACPAEVGKHRDHLPSSD PVLMQAEASVVMCW in isoform 2. 1 PublicationAdd BLAST108

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK123044 mRNA Translation: BAC85523.1 Sequence problems.
AK123600 mRNA Translation: BAC85657.1
AK307417 mRNA No translation available.
BX538201 mRNA Translation: CAD98066.1
BX640616 mRNA Translation: CAE45762.1
AC093726 Genomic DNA Translation: AAP21865.1 Sequence problems.
U80735 mRNA Translation: AAB91434.1 Frameshift.
BC008328 mRNA Translation: AAH08328.1
BC033781 mRNA Translation: AAH33781.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47753.1 [Q6ZW49-6]

NCBI Reference Sequences

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RefSeqi
NP_031375.3, NM_007349.3 [Q6ZW49-6]
XP_005249596.1, XM_005249539.1 [Q6ZW49-1]
XP_016867370.1, XM_017011881.1 [Q6ZW49-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000397192; ENSP00000380376; ENSG00000157212 [Q6ZW49-6]
ENST00000404141; ENSP00000384048; ENSG00000157212 [Q6ZW49-6]

Database of genes from NCBI RefSeq genomes

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GeneIDi
22976

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:22976

UCSC genome browser

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UCSCi
uc033aqm.2 human [Q6ZW49-6]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK123044 mRNA Translation: BAC85523.1 Sequence problems.
AK123600 mRNA Translation: BAC85657.1
AK307417 mRNA No translation available.
BX538201 mRNA Translation: CAD98066.1
BX640616 mRNA Translation: CAE45762.1
AC093726 Genomic DNA Translation: AAP21865.1 Sequence problems.
U80735 mRNA Translation: AAB91434.1 Frameshift.
BC008328 mRNA Translation: AAH08328.1
BC033781 mRNA Translation: AAH33781.1 Sequence problems.
CCDSiCCDS47753.1 [Q6ZW49-6]
RefSeqiNP_031375.3, NM_007349.3 [Q6ZW49-6]
XP_005249596.1, XM_005249539.1 [Q6ZW49-1]
XP_016867370.1, XM_017011881.1 [Q6ZW49-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3SQDX-ray2.15A/B860-1069[»]
SMRiQ6ZW49
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi116625, 269 interactors
CORUMiQ6ZW49
DIPiDIP-41786N
IntActiQ6ZW49, 33 interactors
MINTiQ6ZW49
STRINGi9606.ENSP00000384048

PTM databases

iPTMnetiQ6ZW49
PhosphoSitePlusiQ6ZW49

Polymorphism and mutation databases

BioMutaiPAXIP1
DMDMi317373316

Proteomic databases

EPDiQ6ZW49
jPOSTiQ6ZW49
MassIVEiQ6ZW49
MaxQBiQ6ZW49
PaxDbiQ6ZW49
PeptideAtlasiQ6ZW49
PRIDEiQ6ZW49
ProteomicsDBi68459 [Q6ZW49-6]
68460 [Q6ZW49-1]
68461 [Q6ZW49-2]

Genome annotation databases

EnsembliENST00000397192; ENSP00000380376; ENSG00000157212 [Q6ZW49-6]
ENST00000404141; ENSP00000384048; ENSG00000157212 [Q6ZW49-6]
GeneIDi22976
KEGGihsa:22976
UCSCiuc033aqm.2 human [Q6ZW49-6]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
22976
DisGeNETi22976

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PAXIP1
HGNCiHGNC:8624 PAXIP1
HPAiHPA006694
HPA016950
MIMi608254 gene
neXtProtiNX_Q6ZW49
OpenTargetsiENSG00000157212
PharmGKBiPA32964

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2043 Eukaryota
ENOG410XSGS LUCA
GeneTreeiENSGT00940000155757
InParanoidiQ6ZW49
KOiK14972
OMAiFTGFEPM
OrthoDBi840249at2759
PhylomeDBiQ6ZW49
TreeFamiTF329580

Enzyme and pathway databases

ReactomeiR-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-5693571 Nonhomologous End-Joining (NHEJ)
SignaLinkiQ6ZW49
SIGNORiQ6ZW49

Miscellaneous databases

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

More...
ChiTaRSi
PAXIP1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PAXIP1

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

More...
GenomeRNAii
22976
PharosiQ6ZW49

Protein Ontology

More...
PROi
PR:Q6ZW49

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000157212 Expressed in 207 organ(s), highest expression level in secondary oocyte
ExpressionAtlasiQ6ZW49 baseline and differential
GenevisibleiQ6ZW49 HS

Family and domain databases

Gene3Di3.40.50.10190, 5 hits
InterProiView protein in InterPro
IPR001357 BRCT_dom
IPR036420 BRCT_dom_sf
PfamiView protein in Pfam
PF00533 BRCT, 1 hit
PF12738 PTCB-BRCT, 2 hits
PF16770 RTT107_BRCT_5, 1 hit
SMARTiView protein in SMART
SM00292 BRCT, 5 hits
SUPFAMiSSF52113 SSF52113, 5 hits
PROSITEiView protein in PROSITE
PS50172 BRCT, 5 hits

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 nameiPAXI1_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: Q6ZW49
Secondary accession number(s): O15404
, Q6N099, Q6ZWH9, Q7Z315, Q86UN0, Q8N4P9, Q96HP2
<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: July 24, 2007
Last sequence update: January 11, 2011
Last modified: October 16, 2019
This is version 134 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

3D-structure, Complete proteome, Reference proteome

Documents

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