UniProtKB - Q9Y5B6 (PAXB1_HUMAN)
PAX3- and PAX7-binding protein 1
PAXBP1
Functioni
GO - Molecular functioni
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- transcription factor binding Source: Ensembl
GO - Biological processi
- muscle organ development Source: UniProtKB-KW
- negative regulation of transcription by RNA polymerase II Source: GO_Central
- positive regulation of histone methylation Source: Ensembl
- positive regulation of myoblast proliferation Source: Ensembl
- positive regulation of transcription by RNA polymerase II Source: GO_Central
- regulation of skeletal muscle satellite cell proliferation Source: Ensembl
Keywordsi
Molecular function | DNA-binding |
Biological process | Myogenesis, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q9Y5B6 |
Names & Taxonomyi
Protein namesi | Recommended name: PAX3- and PAX7-binding protein 1Alternative name(s): GC-rich sequence DNA-binding factor 1 |
Gene namesi | Name:PAXBP1 Synonyms:C21orf66, GCFC, GCFC1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:13579, PAXBP1 |
MIMi | 617621, gene |
neXtProti | NX_Q9Y5B6 |
VEuPathDBi | HostDB:ENSG00000159086.14 |
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 94104 |
OpenTargetsi | ENSG00000159086 |
PharmGKBi | PA25861 |
Miscellaneous databases
Pharosi | Q9Y5B6, Tbio |
Genetic variation databases
BioMutai | PAXBP1 |
DMDMi | 20141448 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000087439 | 1 – 917 | PAX3- and PAX7-binding protein 1Add BLAST | 917 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 16 | PhosphoserineCombined sources | 1 | |
Cross-linki | 149 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources | ||
Cross-linki | 149 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Modified residuei | 154 | PhosphoserineCombined sources | 1 | |
Modified residuei | 155 | PhosphoserineCombined sources | 1 | |
Modified residuei | 158 | PhosphoserineCombined sources | 1 | |
Modified residuei | 191 | PhosphoserineCombined sources | 1 | |
Modified residuei | 262 | PhosphoserineCombined sources | 1 | |
Modified residuei | 295 | PhosphoserineCombined sources | 1 | |
Modified residuei | 557 | PhosphoserineCombined sources | 1 | |
Modified residuei | 558 | PhosphoserineCombined sources | 1 | |
Modified residuei | 563 | PhosphothreonineBy similarity | 1 |
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q9Y5B6 |
jPOSTi | Q9Y5B6 |
MassIVEi | Q9Y5B6 |
PaxDbi | Q9Y5B6 |
PeptideAtlasi | Q9Y5B6 |
PRIDEi | Q9Y5B6 |
ProteomicsDBi | 86332 [Q9Y5B6-1] 86333 [Q9Y5B6-2] 86334 [Q9Y5B6-3] 86335 [Q9Y5B6-4] |
PTM databases
iPTMneti | Q9Y5B6 |
MetOSitei | Q9Y5B6 |
PhosphoSitePlusi | Q9Y5B6 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000159086, Expressed in sural nerve and 229 other tissues |
ExpressionAtlasi | Q9Y5B6, baseline and differential |
Genevisiblei | Q9Y5B6, HS |
Organism-specific databases
HPAi | ENSG00000159086, Low tissue specificity |
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 similarityGO - Molecular functioni
- transcription factor binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 125115, 52 interactors |
CORUMi | Q9Y5B6 |
IntActi | Q9Y5B6, 21 interactors |
MINTi | Q9Y5B6 |
STRINGi | 9606.ENSP00000328992 |
Miscellaneous databases
RNActi | Q9Y5B6, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 378 – 558 | Necessary and sufficient for interaction with PAX7By similarityAdd BLAST | 181 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG2136, Eukaryota |
GeneTreei | ENSGT00390000000455 |
HOGENOMi | CLU_010846_3_0_1 |
InParanoidi | Q9Y5B6 |
OMAi | STQRTKN |
OrthoDBi | 798081at2759 |
PhylomeDBi | Q9Y5B6 |
TreeFami | TF315109 |
Family and domain databases
InterProi | View protein in InterPro IPR012890, GCFC IPR022783, GCFC_dom |
PANTHERi | PTHR12214, PTHR12214, 1 hit |
Pfami | View protein in Pfam PF07842, GCFC, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
The sequence of this isoform differs from the canonical sequence as follows:
503-511: NKALMAPNL → SQSILKTKL
512-917: Missing.
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7BZC8 | H7BZC8_HUMAN | PAX3- and PAX7-binding protein 1 | PAXBP1 | 36 | Annotation score: | ||
H7C2W4 | H7C2W4_HUMAN | PAX3- and PAX7-binding protein 1 | PAXBP1 | 25 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 692 – 711 | Missing in AAD34617 (Ref. 5) CuratedAdd BLAST | 20 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079417 | 538 | R → C Found in a family with global developmental delay and myopathic hypotonia; unknown pathological significance. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_004263 | 462 – 469 | VPLINELE → SVQFRKLL in isoform 3. 1 Publication | 8 | |
Alternative sequenceiVSP_004264 | 470 – 917 | Missing in isoform 3. 1 PublicationAdd BLAST | 448 | |
Alternative sequenceiVSP_004265 | 503 – 511 | NKALMAPNL → SQSILKTKL in isoform 4. 2 Publications | 9 | |
Alternative sequenceiVSP_004266 | 512 – 917 | Missing in isoform 4. 2 PublicationsAdd BLAST | 406 | |
Alternative sequenceiVSP_004267 | 779 – 917 | LLGNF…LIEGK → VIKPPFQRGSCPIPRRKECC SERPRRIWTDRPCVVFS in isoform 2. 2 PublicationsAdd BLAST | 139 |
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. |
CCDSi | CCDS13619.1 [Q9Y5B6-1] CCDS33541.1 [Q9Y5B6-2] |
RefSeqi | NP_037461.2, NM_013329.3 [Q9Y5B6-2] NP_057715.2, NM_016631.3 [Q9Y5B6-1] |
Genome annotation databases
Ensembli | ENST00000290178; ENSP00000290178; ENSG00000159086 [Q9Y5B6-2] ENST00000331923; ENSP00000328992; ENSG00000159086 [Q9Y5B6-1] ENST00000443785; ENSP00000393038; ENSG00000159086 [Q9Y5B6-4] ENST00000573680; ENSP00000458892; ENSG00000263141 ENST00000574159; ENSP00000458262; ENSG00000263141 |
GeneIDi | 94104 |
KEGGi | hsa:94104 |
UCSCi | uc002yqn.3, human [Q9Y5B6-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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. |
CCDSi | CCDS13619.1 [Q9Y5B6-1] CCDS33541.1 [Q9Y5B6-2] |
RefSeqi | NP_037461.2, NM_013329.3 [Q9Y5B6-2] NP_057715.2, NM_016631.3 [Q9Y5B6-1] |
3D structure databases
SMRi | Q9Y5B6 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 125115, 52 interactors |
CORUMi | Q9Y5B6 |
IntActi | Q9Y5B6, 21 interactors |
MINTi | Q9Y5B6 |
STRINGi | 9606.ENSP00000328992 |
PTM databases
iPTMneti | Q9Y5B6 |
MetOSitei | Q9Y5B6 |
PhosphoSitePlusi | Q9Y5B6 |
Genetic variation databases
BioMutai | PAXBP1 |
DMDMi | 20141448 |
Proteomic databases
EPDi | Q9Y5B6 |
jPOSTi | Q9Y5B6 |
MassIVEi | Q9Y5B6 |
PaxDbi | Q9Y5B6 |
PeptideAtlasi | Q9Y5B6 |
PRIDEi | Q9Y5B6 |
ProteomicsDBi | 86332 [Q9Y5B6-1] 86333 [Q9Y5B6-2] 86334 [Q9Y5B6-3] 86335 [Q9Y5B6-4] |
Protocols and materials databases
Antibodypediai | 22645, 123 antibodies |
DNASUi | 94104 |
Genome annotation databases
Ensembli | ENST00000290178; ENSP00000290178; ENSG00000159086 [Q9Y5B6-2] ENST00000331923; ENSP00000328992; ENSG00000159086 [Q9Y5B6-1] ENST00000443785; ENSP00000393038; ENSG00000159086 [Q9Y5B6-4] ENST00000573680; ENSP00000458892; ENSG00000263141 ENST00000574159; ENSP00000458262; ENSG00000263141 |
GeneIDi | 94104 |
KEGGi | hsa:94104 |
UCSCi | uc002yqn.3, human [Q9Y5B6-1] |
Organism-specific databases
CTDi | 94104 |
DisGeNETi | 94104 |
GeneCardsi | PAXBP1 |
HGNCi | HGNC:13579, PAXBP1 |
HPAi | ENSG00000159086, Low tissue specificity |
MIMi | 617621, gene |
neXtProti | NX_Q9Y5B6 |
OpenTargetsi | ENSG00000159086 |
PharmGKBi | PA25861 |
VEuPathDBi | HostDB:ENSG00000159086.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2136, Eukaryota |
GeneTreei | ENSGT00390000000455 |
HOGENOMi | CLU_010846_3_0_1 |
InParanoidi | Q9Y5B6 |
OMAi | STQRTKN |
OrthoDBi | 798081at2759 |
PhylomeDBi | Q9Y5B6 |
TreeFami | TF315109 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y5B6 |
Miscellaneous databases
BioGRID-ORCSi | 94104, 497 hits in 879 CRISPR screens |
ChiTaRSi | PAXBP1, human |
GeneWikii | C21orf66 |
GenomeRNAii | 94104 |
Pharosi | Q9Y5B6, Tbio |
PROi | PR:Q9Y5B6 |
RNActi | Q9Y5B6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000159086, Expressed in sural nerve and 229 other tissues |
ExpressionAtlasi | Q9Y5B6, baseline and differential |
Genevisiblei | Q9Y5B6, HS |
Family and domain databases
InterProi | View protein in InterPro IPR012890, GCFC IPR022783, GCFC_dom |
PANTHERi | PTHR12214, PTHR12214, 1 hit |
Pfami | View protein in Pfam PF07842, GCFC, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PAXB1_HUMAN | |
Accessioni | Q9Y5B6Primary (citable) accession number: Q9Y5B6 Secondary accession number(s): D3DSE7, Q96DU8, Q9NYQ0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 30, 2000 |
Last sequence update: | December 19, 2001 | |
Last modified: | February 10, 2021 | |
This is version 171 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants