UniProtKB - Q9Y5B6 (PAXB1_HUMAN)

BLAST

>sp|Q9Y5B6|PAXB1_HUMAN PAX3- and PAX7-binding protein 1 OS=Homo sapiens OX=9606 GN=PAXBP1 PE=1 SV=2
MFRKARRVNVRKRNDSEEEERERDEEQEPPPLLPPPGTGEEAGPGGGDRAPGGESLLGPG
PSPPSALTPGLGAEAGGGFPGGAEPGNGLKPRKRPRENKEVPRASLLSFQDEEEENEEVF
KVKKSSYSKKIVKLLKKEYKEDLEKSKIKTELNSSAESEQPLDKTGHVKDTNQEDGVIIS
EHGEDEMDMESEKEEEKPKTGGAFSNALSSLNVLRPGEIPDAAFIHAARKKRQMARELGD
FTPHDNEPGKGRLVREDENDASDDEDDDEKRRIVFSVKEKSQRQKIAEEIGIEGSDDDAL
VTGEQDEELSRWEQEQIRKGINIPQVQASQPAEVNMYYQNTYQTMPYGSSYGIPYSYTAY
GSSDAKSQKTDNTVPFKTPSNEMTPVTIDLVKKQLKDRLDSMKELHKTNRQQHEKHLQSR
VDSTRAIERLEGSSGGIGERYKFLQEMRGYVQDLLECFSEKVPLINELESAIHQLYKQRA
SRLVQRRQDDIKDESSEFSSHSNKALMAPNLDSFGRDRALYQEHAKRRIAEREARRTRRR
QAREQTGKMADHLEGLSSDDEETSTDITNFNLEKDRISKESGKVFEDVLESFYSIDCIKS
QFEAWRSKYYTSYKDAYIGLCLPKLFNPLIRLQLLTWTPLEAKCRDFENMLWFESLLFYG
CEEREQEKDDVDVALLPTIVEKVILPKLTVIAENMWDPFSTTQTSRMVGITLKLINGYPS
VVNAENKNTQVYLKALLLRMRRTLDDDVFMPLYPKNVLENKNSGPYLFFQRQFWSSVKLL
GNFLQWYGIFSNKTLQELSIDGLLNRYILMAFQNSEYGDDSIKKAQNVINCFPKQWFMNL
KGERTISQLENFCRYLVHLADTIYRNSIGCSDVEKRNARENIKQIVKLLASVRALDHAMS
VASDHNVKEFKSLIEGK

Align

Format
Add to basket Added to basket
History
Entry version 156 (07 Nov 2018)
Sequence version 2 (19 Dec 2001)
Previous versions | rss
Other tutorials and videos
Help video
Feedback

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

proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
RNA polymerase II proximal promoter sequence-specific DNA binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
transcription factor binding Source: Ensembl

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

muscle organ development Source: UniProtKB-KW
negative regulation of transcription by RNA polymerase II
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
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
Inferred from biological aspect of ancestorⁱ
- 21873635
regulation of skeletal muscle satellite cell proliferation Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	DNA-binding
Biological process	Myogenesis, 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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 21

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000159086.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:13579 PAXBP1
MIMⁱ	617621 gene
neXtProtⁱ	NX_Q9Y5B6

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Organism-specific databases

Open Targets More...OpenTargetsⁱ	ENSG00000159086
PharmGKBⁱ	PA25861

Polymorphism and mutation 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	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 conjugation

Proteomic databases

EPDⁱ	Q9Y5B6
PaxDbⁱ	Q9Y5B6
PeptideAtlas More...PeptideAtlasⁱ	Q9Y5B6
PRIDEⁱ	Q9Y5B6
ProteomicsDBⁱ	86332 86333 [Q9Y5B6-2] 86334 [Q9Y5B6-3] 86335 [Q9Y5B6-4]

PTM databases

iPTMnetⁱ	Q9Y5B6
PhosphoSitePlusⁱ	Q9Y5B6

Expressionⁱ

Tissue specificityⁱ

Ubiquitous.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000159086 Expressed in 220 organ(s), highest expression level in kidney
CleanExⁱ	HS_C21orf66
ExpressionAtlasⁱ	Q9Y5B6 baseline and differential
Genevisibleⁱ	Q9Y5B6 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA003757

HPAⁱ

HPA003757

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

transcription factor binding Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	125115, 31 interactors
CORUMⁱ	Q9Y5B6
IntActⁱ	Q9Y5B6, 6 interactors
Molecular INTeraction database More...MINTⁱ	Q9Y5B6
STRINGⁱ	9606.ENSP00000328992

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9Y5B6
SMRⁱ	Q9Y5B6
ModBaseⁱ	Search...
MobiDBⁱ	Search...

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

Belongs to the GCF family.Curated

Phylogenomic databases

eggNOGⁱ	KOG2136 Eukaryota ENOG410YU43 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000000455
HOGENOMⁱ	HOG000043757
HOVERGENⁱ	HBG005817
InParanoidⁱ	Q9Y5B6
KEGG Orthology (KO) More...KOⁱ	K13211
OMAⁱ	YTSAQER
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G080I
PhylomeDBⁱ	Q9Y5B6
TreeFamⁱ	TF315109

Family and domain databases

InterProⁱ	View protein in InterPro IPR012890 GCFC IPR022783 GCFC_dom
PANTHERⁱ	PTHR12214 PTHR12214, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF07842 GCFC, 1 hit

Sequences (4+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 4 isoformsⁱ produced by alternative splicing. Align Add to basket

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

Isoform 1 (identifier: Q9Y5B6-1) [UniParc]FASTA Add 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

Isoform 2 (identifier: Q9Y5B6-2) [UniParc]FASTA Add to basket

Also known as: B

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

« 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 RQFWSSVKVI KPPFQRGSCP IPRRKECCSE 
       810 
RPRRIWTDRP CVVFS

Show »

Length:815

Mass (Da):93,170

Checksum:ⁱA2843B97BBEA753E

Isoform 3 (identifier: Q9Y5B6-3) [UniParc]FASTA Add 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.

« 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 
VQDLLECFSE KSVQFRKLL

Show »

Length:469

Mass (Da):52,611

Checksum:ⁱ96B04F480DFFAEDD

Isoform 4 (identifier: Q9Y5B6-4) [UniParc]FASTA Add 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.

« 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 
HSSQSILKTK L

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

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

H7BZC8	H7BZC8_HUMAN	PAX3- and PAX7-binding protein 1 PAX3- and PAX7-binding protein 1	PAXBP1	36	Annotation score:
H7C2W4	H7C2W4_HUMAN	PAX3- and PAX7-binding protein 1 PAX3- and PAX7-binding protein 1	PAXBP1	25	Annotation 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 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	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.
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]
UniGeneⁱ	Hs.644004

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
UCSC genome browser More...UCSCⁱ	uc002yqn.3 human [Q9Y5B6-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9Y5B6	C21orf66 protein		HUMAN		398	UniRef100_Q9Y5B6

Protein	Similar proteins		Species	Score	Length	Source
Q9Y5B6	PAX3- and PAX7-binding protein 1		MOUSE		919	UniRef90_P58501
PAX3- and PAX7-binding protein 1 isoform X1		Enhydra lutris kenyoni		925
PAX3 and PAX7 binding protein 1		GORGO		924
cDNA FLJ46670 fis, clone TRACH3008508, highly similar to GC-rich sequence DNA-binding factor homolog		HUMAN		411
PAX3- and PAX7-binding protein 1		DIPOR		924
+153
Q9Y5B6-2	PAX3- and PAX7-binding protein 1 isoform X2		NEOSC		883	UniRef90_Q9Y5B6-2
GC-rich sequence DNA-binding factor 1		TUPCH		863
Uncharacterized protein		RHIRO		819
PAX3 and PAX7 binding protein 1		PANTR		818
PAX3 and PAX7 binding protein 1		GORGO		815
+21
Q9Y5B6-3	Isoform 2 of PAX3- and PAX7-binding protein 1		MOUSE		513	UniRef90_P58501-2
PAXBP1 isoform 3		PONAB		511
PAX3- and PAX7-binding protein 1 (Fragment)		HUMAN		36
PAXBP1 isoform 7 (Fragment)		PANTR		36
PAX3-and PAX7-binding protein 1 (Fragment)		ESCRO		448
+6
Q9Y5B6-4	Isoform 2 of PAX3- and PAX7-binding protein 1		MOUSE		513	UniRef90_P58501-2
PAXBP1 isoform 3		PONAB		511
PAX3- and PAX7-binding protein 1 (Fragment)		HUMAN		36
PAXBP1 isoform 7 (Fragment)		PANTR		36
PAX3-and PAX7-binding protein 1 (Fragment)		ESCRO		448
+6

Protein	Similar proteins		Species	Score	Length	Source
Q9Y5B6	PAX3- and PAX7-binding protein 1		MOUSE		919	UniRef50_P58501
PAX3- and PAX7-binding protein 1 isoform X1		Enhydra lutris kenyoni		925
PAX3- and PAX7-binding protein 1		DIPOR		924
PAX3 and PAX7 binding protein 1		GORGO		924
cDNA FLJ46670 fis, clone TRACH3008508, highly similar to GC-rich sequence DNA-binding factor homolog		HUMAN		411
+409
Q9Y5B6-3	Isoform 2 of PAX3- and PAX7-binding protein 1		MOUSE		513	UniRef50_P58501-2
PAXBP1 isoform 3		PONAB		511
PAX3- and PAX7-binding protein 1 (Fragment)		HUMAN		36
PAXBP1 isoform 7 (Fragment)		PANTR		36
PAX3-and PAX7-binding protein 1 (Fragment)		ESCRO		448
+10
Q9Y5B6-4	Isoform 2 of PAX3- and PAX7-binding protein 1		MOUSE		513	UniRef50_P58501-2
PAXBP1 isoform 3		PONAB		511
PAX3- and PAX7-binding protein 1 (Fragment)		HUMAN		36
PAXBP1 isoform 7 (Fragment)		PANTR		36
PAX3-and PAX7-binding protein 1 (Fragment)		ESCRO		448
+10

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]
UniGeneⁱ	Hs.644004

3D structure databases

ProteinModelPortalⁱ	Q9Y5B6
SMRⁱ	Q9Y5B6
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	125115, 31 interactors
CORUMⁱ	Q9Y5B6
IntActⁱ	Q9Y5B6, 6 interactors
MINTⁱ	Q9Y5B6
STRINGⁱ	9606.ENSP00000328992

PTM databases

iPTMnetⁱ	Q9Y5B6
PhosphoSitePlusⁱ	Q9Y5B6

Polymorphism and mutation databases

BioMutaⁱ	PAXBP1
DMDMⁱ	20141448

Proteomic databases

EPDⁱ	Q9Y5B6
PaxDbⁱ	Q9Y5B6
PeptideAtlasⁱ	Q9Y5B6
PRIDEⁱ	Q9Y5B6
ProteomicsDBⁱ	86332 86333 [Q9Y5B6-2] 86334 [Q9Y5B6-3] 86335 [Q9Y5B6-4]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	94104
Structural Biology Knowledgebase	Search...

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
EuPathDBⁱ	HostDB:ENSG00000159086.14
GeneCardsⁱ	PAXBP1
HGNCⁱ	HGNC:13579 PAXBP1
HPAⁱ	HPA003757
MIMⁱ	617621 gene
neXtProtⁱ	NX_Q9Y5B6
OpenTargetsⁱ	ENSG00000159086
PharmGKBⁱ	PA25861
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG2136 Eukaryota ENOG410YU43 LUCA
GeneTreeⁱ	ENSGT00390000000455
HOGENOMⁱ	HOG000043757
HOVERGENⁱ	HBG005817
InParanoidⁱ	Q9Y5B6
KOⁱ	K13211
OMAⁱ	YTSAQER
OrthoDBⁱ	EOG091G080I
PhylomeDBⁱ	Q9Y5B6
TreeFamⁱ	TF315109

Miscellaneous databases

ChiTaRSⁱ	PAXBP1 human
GeneWikiⁱ	C21orf66
GenomeRNAiⁱ	94104
Protein Ontology More...PROⁱ	PR:Q9Y5B6
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000159086 Expressed in 220 organ(s), highest expression level in kidney
CleanExⁱ	HS_C21orf66
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...

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:	November 7, 2018
	This is version 156 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

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q9Y5B6 (PAXB1_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

PAX3- and PAX7-binding protein 1

PAXBP1

Select a section on the left to see content.

<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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>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

Organism-specific databases

<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

Nucleus

Cytosol

Nucleus

Keywords - Cellular componenti

<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

Polymorphism and mutation databases

<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

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<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

Organism-specific databases

<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

GO - Molecular functioni

Protein-protein interaction databases

<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

<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

<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

Phylogenomic databases

Family and domain databases

<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

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

UniProt is an ELIXIR core data resource

Your basket is currently empty. ⁱ

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ