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Protein

PAX3- and PAX7-binding protein 1

Gene

PAXBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processMyogenesis, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
PAX3- and PAX7-binding protein 1
Alternative name(s):
GC-rich sequence DNA-binding factor 1
Gene namesi
Name:PAXBP1
Synonyms:C21orf66, GCFC, GCFC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000159086.14
HGNCiHGNC:13579 PAXBP1
MIMi617621 gene
neXtProtiNX_Q9Y5B6

Subcellular locationi

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000159086
PharmGKBiPA25861

Polymorphism and mutation databases

BioMutaiPAXBP1
DMDMi20141448

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000874391 – 917PAX3- and PAX7-binding protein 1Add BLAST917

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei16PhosphoserineCombined sources1
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

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

PTM databases

iPTMnetiQ9Y5B6
PhosphoSitePlusiQ9Y5B6

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000159086 Expressed in 220 organ(s), highest expression level in kidney
CleanExiHS_C21orf66
ExpressionAtlasiQ9Y5B6 baseline and differential
GenevisibleiQ9Y5B6 HS

Organism-specific databases

HPAiHPA003757

Interactioni

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

BioGridi125115, 31 interactors
CORUMiQ9Y5B6
IntActiQ9Y5B6, 6 interactors
MINTiQ9Y5B6
STRINGi9606.ENSP00000328992

Structurei

3D structure databases

ProteinModelPortaliQ9Y5B6
SMRiQ9Y5B6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni378 – 558Necessary and sufficient for interaction with PAX7By similarityAdd BLAST181

Sequence similaritiesi

Belongs to the GCF family.Curated

Phylogenomic databases

eggNOGiKOG2136 Eukaryota
ENOG410YU43 LUCA
GeneTreeiENSGT00390000000455
HOGENOMiHOG000043757
HOVERGENiHBG005817
InParanoidiQ9Y5B6
KOiK13211
OMAiYTSAQER
OrthoDBiEOG091G080I
PhylomeDBiQ9Y5B6
TreeFamiTF315109

Family and domain databases

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

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
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
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.
Show »
Length:511
Mass (Da):57,431
Checksum:i2D90273749BD50FE
GO

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:
H7C2W4H7C2W4_HUMAN
PAX3- and PAX7-binding protein 1
PAXBP1
25Annotation score:

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
Sequence conflicti692 – 711Missing in AAD34617 (Ref. 5) CuratedAdd BLAST20

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
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]
UniGeneiHs.644004

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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]
UniGeneiHs.644004

3D structure databases

ProteinModelPortaliQ9Y5B6
SMRiQ9Y5B6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125115, 31 interactors
CORUMiQ9Y5B6
IntActiQ9Y5B6, 6 interactors
MINTiQ9Y5B6
STRINGi9606.ENSP00000328992

PTM databases

iPTMnetiQ9Y5B6
PhosphoSitePlusiQ9Y5B6

Polymorphism and mutation databases

BioMutaiPAXBP1
DMDMi20141448

Proteomic databases

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

Protocols and materials databases

DNASUi94104
Structural Biology KnowledgebaseSearch...

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

CTDi94104
EuPathDBiHostDB:ENSG00000159086.14
GeneCardsiPAXBP1
HGNCiHGNC:13579 PAXBP1
HPAiHPA003757
MIMi617621 gene
neXtProtiNX_Q9Y5B6
OpenTargetsiENSG00000159086
PharmGKBiPA25861
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2136 Eukaryota
ENOG410YU43 LUCA
GeneTreeiENSGT00390000000455
HOGENOMiHOG000043757
HOVERGENiHBG005817
InParanoidiQ9Y5B6
KOiK13211
OMAiYTSAQER
OrthoDBiEOG091G080I
PhylomeDBiQ9Y5B6
TreeFamiTF315109

Miscellaneous databases

ChiTaRSiPAXBP1 human
GeneWikiiC21orf66
GenomeRNAii94104
PROiPR:Q9Y5B6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000159086 Expressed in 220 organ(s), highest expression level in kidney
CleanExiHS_C21orf66
ExpressionAtlasiQ9Y5B6 baseline and differential
GenevisibleiQ9Y5B6 HS

Family and domain databases

InterProiView protein in InterPro
IPR012890 GCFC
IPR022783 GCFC_dom
PANTHERiPTHR12214 PTHR12214, 1 hit
PfamiView protein in Pfam
PF07842 GCFC, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPAXB1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5B6
Secondary accession number(s): D3DSE7, Q96DU8, Q9NYQ0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: December 19, 2001
Last modified: November 7, 2018
This is version 156 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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 chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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