UniProtKB - Q6ZW49 (PAXI1_HUMAN)

>sp|Q6ZW49|PAXI1_HUMAN PAX-interacting protein 1 OS=Homo sapiens OX=9606 GN=PAXIP1 PE=1 SV=2
MSDQAPKVPEEMFREVKYYAVGDIDPQVIQLLKAGKAKEVSYNALASHIISEDGDNPEVG
EAREVFDLPVVKPSWVILSVQCGTLLPVNGFSPESCQIFFGITACLSQVSSEDRSALWAL
VTFYGGDCQLTLNKKCTHLIVPEPKGEKYECALKRASIKIVTPDWVLDCVSEKTKKDEAF
YHPRLIIYEEEEEEEEEEEEVENEEQDSQNEGSTDEKSSPASSQEGSPSGDQQFSPKSNT
EKSKGELMFDDSSDSSPEKQERNLNWTPAEVPQLAAAKRRLPQGKEPGLINLCANVPPVP
GNILPPEVRGNLMAAGQNLQSSERSEMIATWSPAVRTLRNITNNADIQQMNRPSNVAHIL
QTLSAPTKNLEQQVNHSQQGHTNANAVLFSQVKVTPETHMLQQQQQAQQQQQQHPVLHLQ
PQQIMQLQQQQQQQISQQPYPQQPPHPFSQQQQQQQQAHPHQFSQQQLQFPQQQLHPPQQ
LHRPQQQLQPFQQQHALQQQFHQLQQHQLQQQQLAQLQQQHSLLQQQQQQQIQQQQLQRM
HQQQQQQQMQSQTAPHLSQTSQALQHQVPPQQPPQQQQQQQPPPSPQQHQLFGHDPAVEI
PEEGFLLGCVFAIADYPEQMSDKQLLATWKRIIQAHGGTVDPTFTSRCTHLLCESQVSSA
YAQAIRERKRCVTAHWLNTVLKKKKMVPPHRALHFPVAFPPGGKPCSQHIISVTGFVDSD
RDDLKLMAYLAGAKYTGYLCRSNTVLICKEPTGLKYEKAKEWRIPCVNAQWLGDILLGNF
EALRQIQYSRYTAFSLQDPFAPTQHLVLNLLDAWRVPLKVSAELLMSIRLPPKLKQNEVA
NVQPSSKRARIEDVPPPTKKLTPELTPFVLFTGFEPVQVQQYIKKLYILGGEVAESAQKC
THLIASKVTRTVKFLTAISVVKHIVTPEWLEECFRCQKFIDEQNYILRDAEAEVLFSFSL
EESLKRAHVSPLFKAKYFYITPGICPSLSTMKAIVECAGGKVLSKQPSFRKLMEHKQNSS
LSEIILISCENDLHLCREYFARGIDVHNAEFVLTGVLTQTLDYESYKFN

Entry version 129 (13 Feb 2019)
Sequence version 2 (11 Jan 2011)
Previous versions | rss

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Protein

PAX-interacting protein 1

Gene

PAXIP1

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

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

GO - Biological processⁱ

adipose tissue development Source: Ensembl
chorion development Source: Ensembl
DNA damage response, signal transduction by p53 class mediator
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 15456759
- 17690115
DNA recombination Source: UniProtKB-KW
double-strand break repair via nonhomologous end joining Source: Reactome
endothelial cell migration Source: Ensembl
histone H3-K4 methylation
Source: UniProtKB
Inferred from direct assayⁱ
- 17178841
positive regulation of histone acetylation Source: UniProtKB
positive regulation of histone H3-K36 methylation Source: UniProtKB
positive regulation of histone H3-K4 methylation Source: UniProtKB
positive regulation of isotype switching Source: UniProtKB
positive regulation of isotype switching to IgG isotypes Source: Ensembl
positive regulation of protein ubiquitination Source: UniProtKB
positive regulation of response to DNA damage stimulus Source: Ensembl
positive regulation of transcription initiation from RNA polymerase II promoter
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 17925232
regulation of cell cycle G2/M phase transition Source: Ensembl
response to ionizing radiation
Source: UniProtKB
Inferred from direct assayⁱ
- 15456759
vasculogenesis Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

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

Biological process

DNA damage, DNA recombination, DNA repair, Transcription, Transcription regulation

Enzyme and pathway databases

Reactomeⁱ	R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis R-HSA-5693571 Nonhomologous End-Joining (NHEJ)
SignaLinkⁱ	Q6ZW49
SIGNORⁱ	Q6ZW49

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: PAX-interacting protein 1 Alternative name(s): PAX transactivation activation domain-interacting protein
Gene namesⁱ	Name:PAXIP1 Synonyms:PAXIP1L, PTIP ORF Names:CAGF28
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 7

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000157212.18
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:8624 PAXIP1
MIMⁱ	608254 gene
neXtProtⁱ	NX_Q6ZW49

Keywords - Cellular componentⁱ

Chromosome, Nucleus

Pathology & Biotechⁱ

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	676	W → A: Abolishes interaction with TP53BP1; prevents recruitment to DNA damage foci. 1 Publication	1
Mutagenesisⁱ	910	R → Q: Abolishes interaction with TP53BP1; impairs intact cellular response to DNA damage. 1 Publication	1
Mutagenesisⁱ	929	W → A: Abolishes interaction with TP53BP1; prevents recruitment to DNA damage foci. 1 Publication	1

Organism-specific databases

DisGeNET More...DisGeNETⁱ	22976
MalaCards human disease database More...MalaCardsⁱ	PAXIP1
Open Targets More...OpenTargetsⁱ	ENSG00000157212
PharmGKBⁱ	PA32964

Polymorphism and mutation databases

BioMutaⁱ	PAXIP1
DMDMⁱ	317373316

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000296262	1 – 1069	PAX-interacting protein 1Add BLAST		1069

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Modified residueⁱ	227	PhosphoserineBy similarity		1
Modified residueⁱ	235	PhosphoserineCombined sources		1

Keywords - PTMⁱ

Phosphoprotein

Proteomic databases

EPDⁱ	Q6ZW49
jPOSTⁱ	Q6ZW49
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q6ZW49
PaxDbⁱ	Q6ZW49
PeptideAtlas More...PeptideAtlasⁱ	Q6ZW49
PRIDEⁱ	Q6ZW49
ProteomicsDBⁱ	68459 68460 [Q6ZW49-1] 68461 [Q6ZW49-2]

PTM databases

iPTMnetⁱ	Q6ZW49
PhosphoSitePlusⁱ	Q6ZW49

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000157212 Expressed in 207 organ(s), highest expression level in secondary oocyte
ExpressionAtlasⁱ	Q6ZW49 baseline and differential
Genevisibleⁱ	Q6ZW49 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA006694 HPA016950

HPAⁱ

HPA006694
HPA016950

Interactionⁱ

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).By similarity8 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
ASH2L	Q9UBL3	11	EBI-743225,EBI-540797
H2AFX	P16104	7	EBI-7521368,EBI-494830
MAPRE2	Q15555	3	EBI-10236271,EBI-739717
NXT1	Q9UKK6	3	EBI-10236271,EBI-301889
PAGR1	Q9BTK6	8	EBI-743225,EBI-2372223
POM121	Q96HA1	3	EBI-10236271,EBI-739990
RBBP5	Q15291	11	EBI-743225,EBI-592823
TP53BP1	Q12888	4	EBI-743225,EBI-396540
WDR5	P61964	8	EBI-743225,EBI-540834

Protein-protein interaction databases

BioGridⁱ	116625, 265 interactors
CORUMⁱ	Q6ZW49
Database of interacting proteins More...DIPⁱ	DIP-41786N
IntActⁱ	Q6ZW49, 32 interactors
Molecular INTeraction database More...MINTⁱ	Q6ZW49
STRINGⁱ	9606.ENSP00000384048

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	863 – 865	Combined sources	3
Beta strandⁱ	868 – 871	Combined sources	4
Helixⁱ	876 – 888	Combined sources	13
Helixⁱ	897 – 899	Combined sources	3
Beta strandⁱ	901 – 904	Combined sources	4
Helixⁱ	912 – 917	Combined sources	6
Turnⁱ	918 – 920	Combined sources	3
Beta strandⁱ	922 – 925	Combined sources	4
Helixⁱ	927 – 936	Combined sources	10
Helixⁱ	943 – 945	Combined sources	3
Helixⁱ	950 – 955	Combined sources	6
Helixⁱ	960 – 969	Combined sources	10
Turnⁱ	972 – 975	Combined sources	4
Beta strandⁱ	976 – 980	Combined sources	5
Helixⁱ	988 – 997	Combined sources	10
Beta strandⁱ	1001 – 1005	Combined sources	5
Helixⁱ	1009 – 1017	Combined sources	9
Beta strandⁱ	1023 – 1028	Combined sources	6
Helixⁱ	1030 – 1036	Combined sources	7
Helixⁱ	1037 – 1041	Combined sources	5
Helixⁱ	1050 – 1058	Combined sources	9
Turnⁱ	1063 – 1065	Combined sources	3

Show more details

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	3SQD	X-ray	2.15	A/B	860-1069	[»]
ProteinModelPortalⁱ	Q6ZW49
SMRⁱ	Q6ZW49
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	8 – 93	BRCT 1PROSITE-ProRule annotationAdd BLAST	86
Domainⁱ	94 – 183	BRCT 2PROSITE-ProRule annotationAdd BLAST	90
Domainⁱ	601 – 694	BRCT 3PROSITE-ProRule annotationAdd BLAST	94
Domainⁱ	703 – 779	BRCT 4PROSITE-ProRule annotationAdd BLAST	77
Domainⁱ	866 – 947	BRCT 5PROSITE-ProRule annotationAdd BLAST	82
Domainⁱ	970 – 1059	BRCT 6PROSITE-ProRule annotationAdd BLAST	90

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	94 – 183	Interaction with PAGR1By similarityAdd BLAST		90
Regionⁱ	590 – 1069	Interaction with TP53BP1Add BLAST		480

Motif

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Motifⁱ	702 – 719	Nuclear localization signalSequence analysisAdd BLAST		18

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	223 – 250	Glu-richAdd BLAST		28
Compositional biasⁱ	406 – 624	Gln-richAdd BLAST		219

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

eggNOGⁱ	KOG2043 Eukaryota ENOG410XSGS LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000155757
HOVERGENⁱ	HBG061191
InParanoidⁱ	Q6ZW49
KEGG Orthology (KO) More...KOⁱ	K14972
OMAⁱ	FKCQKFV
Database of Orthologous Groups More...OrthoDBⁱ	840249at2759
PhylomeDBⁱ	Q6ZW49
TreeFamⁱ	TF329580

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00027 BRCT, 4 hits
Gene3Dⁱ	3.40.50.10190, 5 hits
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
SMARTⁱ	View protein in SMART SM00292 BRCT, 5 hits
SUPFAMⁱ	SSF52113 SSF52113, 5 hits
PROSITEⁱ	View protein in PROSITE PS50172 BRCT, 5 hits

Sequences (3+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 3 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show all Align All

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

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
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

Checksum:ⁱ78CD535A150E1FC1

Isoform 2 (identifier: Q6ZW49-1) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MVFLQNHVRF FLESLPAFLR VLIQAGALCW SLPELSQGEV GKGACPAEVG 
        60         70         80         90        100
KHRDHLPSSD PVLMQAEASV VMCWVSSEDR SALWALVTFY GGDCQLTLNK 
       110        120        130        140        150
KCTHLIVPEP KGEKYECALK RASIKIVTPD WVLDCVSEKT KKDEAFYHPR 
       160        170        180        190        200
LIIYEEEEEE EEEEEEVENE EQDSQNEGST DEKSSPASSQ EGSPSGDQQF 
       210        220        230        240        250
SPKSNTEKSK GELMFDDSSD SSPEKQERNL NWTPAEVPQL AAAKRRLPQG 
       260        270        280        290        300
KEPGLINLCA NVPPVPGNIL PPEVRGNLMA AGQNLQSSER SEMIATWSPA 
       310        320        330        340        350
VRTLRNITNN ADIQQMNRPS NVAHILQTLS APTKNLEQQV NHSQQGHTNA 
       360        370        380        390        400
NAVLFSQVKV TPETHMLQQQ QQAQQQQQQH PVLHLQPQQI MQLQQQQQQQ 
       410        420        430        440        450
ISQQPYPQQP PHPFSQQQQQ QQQAHPHQFS QQQLQFPQQQ LHPPQQLHRP 
       460        470        480        490        500
QQQLQPFQQQ HALQQQFHQL QQHQLQQQQL AQLQQQHSLL QQQQQQQIQQ 
       510        520        530        540        550
QQLQRMHQQQ QQQQMQSQTA PHLSQTSQAL QHQVPPQQPP QQQQQQQPPP 
       560        570        580        590        600
SPQQHQLFGH DPAVEIPEEG FLLGCVFAIA DYPEQMSDKQ LLATWKRIIQ 
       610        620        630        640        650
AHGGTVDPTF TSRCTHLLCE SQVSSAYAQA IRERKRCVTA HWLNTVLKKK 
       660        670        680        690        700
KMVPPHRALH FPVAFPPGGK PCSQHIISVT GFVDSDRDDL KLMAYLAGAK 
       710        720        730        740        750
YTGYLCRSNT VLICKEPTGL KYEKAKEWRI PCVNAQWLGD ILLGNFEALR 
       760        770        780        790        800
QIQYSRYTAF SLQDPFAPTQ HLVLNLLDAW RVPLKVSAEL LMSIRLPPKL 
       810        820        830        840        850
KQNEVANVQP SSKRARIEDV PPPTKKLTPE LTPFVLFTGF EPVQVQQYIK 
       860        870        880        890        900
KLYILGGEVA ESAQKCTHLI ASKVTRTVKF LTAISVVKHI VTPEWLEECF 
       910        920        930        940        950
RCQKFIDEQN YILRDAEAEV LFSFSLEESL KRAHVSPLFK AKYFYITPGI 
       960        970        980        990       1000
CPSLSTMKAI VECAGGKVLS KQPSFRKLME HKQNSSLSEI ILISCENDLH 
      1010       1020       1030 
LCREYFARGI DVHNAEFVLT GVLTQTLDYE SYKFN

Show »

Length:1,035

Mass (Da):117,690

Checksum:ⁱ3AB758354881AF7D

Isoform 3 (identifier: Q6ZW49-2) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MFDDSSDSSP EKQERNLNWT PAEVPQLAAA KRRLPQGKEP GLINLCANVP 
        60         70         80         90        100
PVPGNILPPE VRGNLMAAGQ NLQSSERSEM IATWSPAVRT LRNITNNADI 
       110        120        130        140        150
QQMNRPSNVA HILQTLSAPT KNLEQQVNHS QQGHTNANAV LFSQVKVTPE 
       160        170        180        190        200
THMLQQQQQA QQQQQQHPVL HLQPQQIMQL QQQQQQQISQ QPYPQQPPHP 
       210        220        230        240        250
FSQQQQQQQQ AHPHQFSQQQ LQFPQQQLHP PQQLHRPQQQ LQPFQQQHAL 
       260        270        280        290        300
QQQFHQLQQH QLQQQQLAQL QQQHSLLQQQ QQQQIQQQQL QRMHQQQQQQ 
       310        320        330        340        350
QMQSQTAPHL SQTSQALQHQ VPPQQPPQQQ QQQQPPPSPQ QHQLFGHDPA 
       360        370        380        390        400
VEIPEEGFLL GCVFAIADYP EQMSDKQLLA TWKRIIQAHG GTVDPTFTSR 
       410        420        430        440        450
CTHLLCESQV SSAYAQAIRE RKRCVTAHWL NTVLKKKKMV PPHRALHFPV 
       460        470        480        490        500
AFPPGGKPCS QHIISVTGFV DSDRDDLKLM AYLAGAKYTG YLCRSNTVLI 
       510        520        530        540        550
CKEPTGLKYE KAKEWRIPCV NAQWLGDILL GNFEALRQIQ YSRYTAFSLQ 
       560        570        580        590        600
DPFAPTQHLV LNLLDAWRVP LKVSAELLMS IRLPPKLKQN EVANVQPSSK 
       610        620        630        640        650
RARIEDVPPP TKKLTPELTP FVLFTGFEPV QVQQYIKKLY ILGGEVAESA 
       660        670        680        690        700
QKCTHLIASK VTRTVKFLTA ISVVKHIVTP EWLEECFRCQ KFIDEQNYIL 
       710        720        730        740        750
RDAEAEVLFS FSLEESLKRA HVSPLFKAKY FYITPGICPS LSTMKAIVEC 
       760        770        780        790        800
AGGKVLSKQP SFRKLMEHKQ NSSLSEIILI SCENDLHLCR EYFARGIDVH 
       810        820 
NAEFVLTGVL TQTLDYESYK FN

Note: No experimental confirmation available.

Show »

Length:822

Mass (Da):93,882

Checksum:ⁱ06D81BB07A314ED0

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

H7BZI8	H7BZI8_HUMAN	PAX-interacting protein 1 PAX-interacting protein 1	PAXIP1	173	Annotation score:
F8WC23	F8WC23_HUMAN	PAX-interacting protein 1 PAX-interacting protein 1	PAXIP1	147	Annotation score:

Sequence cautionⁱ

The sequence AAB91434 differs from that shown. Reason: Frameshift at positions 643 and 662.Curated

The sequence AAH33781 differs from that shown. Contaminating sequence.Curated

The sequence AAH33781 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	121	V → D in AK307417 (PubMed:14702039).Curated	1
Sequence conflictⁱ	154	K → R in CAE45762 (PubMed:17974005).Curated	1
Sequence conflictⁱ	260	Q → H in CAE45762 (PubMed:17974005).Curated	1
Sequence conflictⁱ	406	Missing in AK307417 (PubMed:14702039).Curated	1
Sequence conflictⁱ	458 – 581	Missing in AAB91434 (PubMed:9225980).CuratedAdd BLAST	124
Sequence conflictⁱ	847	K → Q in AAB91434 (PubMed:9225980).Curated	1
Sequence conflictⁱ	912	V → L in AAB91434 (PubMed:9225980).Curated	1
Sequence conflictⁱ	916	T → A in AAB91434 (PubMed:9225980).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_034627	1013	M → V1 PublicationCorresponds to variant dbSNP:rs3501Ensembl.		1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_040303	1 – 247	Missing in isoform 3. 1 PublicationAdd BLAST		247
Alternative sequenceⁱVSP_040300	1 – 108	MSDQA…ACLSQ → MVFLQNHVRFFLESLPAFLR VLIQAGALCWSLPELSQGEV GKGACPAEVGKHRDHLPSSD PVLMQAEASVVMCW in isoform 2. 1 PublicationAdd BLAST		108

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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS47753.1 [Q6ZW49-6]
NCBI Reference Sequences More...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]
UniGeneⁱ	Hs.443881

Genome annotation databases

Ensemblⁱ	ENST00000397192; ENSP00000380376; ENSG00000157212 [Q6ZW49-6] ENST00000404141; ENSP00000384048; ENSG00000157212 [Q6ZW49-6]
GeneIDⁱ	22976
KEGGⁱ	hsa:22976
UCSC genome browser More...UCSCⁱ	uc033aqm.2 human [Q6ZW49-6]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q6ZW49	Isoform 3 of PAX-interacting protein 1		HUMAN		822	UniRef90_Q6ZW49
Uncharacterized protein		PANTR		1251
PAX interacting protein 1		CALJA		1237
PAX interacting protein 1		MACMU		1089
PAX interacting protein 1		MACFA		1087
+81

Protein	Similar proteins		Species	Score	Length	Source
Q6ZW49	PAX-interacting protein 1		MOUSE		1056	UniRef50_Q6NZQ4
PAX interacting protein 1		ORNAN		1044
PAX-interacting protein 1		Asian bonytongue		1068
PAX-interacting protein 1 isoform X1		Enhydra lutris kenyoni		1160
PAX-interacting protein 1		ODORO		1034
+323

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.
CCDSⁱ	CCDS47753.1 [Q6ZW49-6]
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]
UniGeneⁱ	Hs.443881

3D structure databases

Select the link destinations: PDBeⁱ RCSB PDBⁱ PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	3SQD	X-ray	2.15	A/B	860-1069	[»]
ProteinModelPortalⁱ	Q6ZW49
SMRⁱ	Q6ZW49
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	116625, 265 interactors
CORUMⁱ	Q6ZW49
DIPⁱ	DIP-41786N
IntActⁱ	Q6ZW49, 32 interactors
MINTⁱ	Q6ZW49
STRINGⁱ	9606.ENSP00000384048

PTM databases

iPTMnetⁱ	Q6ZW49
PhosphoSitePlusⁱ	Q6ZW49

Polymorphism and mutation databases

BioMutaⁱ	PAXIP1
DMDMⁱ	317373316

Proteomic databases

EPDⁱ	Q6ZW49
jPOSTⁱ	Q6ZW49
MaxQBⁱ	Q6ZW49
PaxDbⁱ	Q6ZW49
PeptideAtlasⁱ	Q6ZW49
PRIDEⁱ	Q6ZW49
ProteomicsDBⁱ	68459 68460 [Q6ZW49-1] 68461 [Q6ZW49-2]

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000397192; ENSP00000380376; ENSG00000157212 [Q6ZW49-6] ENST00000404141; ENSP00000384048; ENSG00000157212 [Q6ZW49-6]
GeneIDⁱ	22976
KEGGⁱ	hsa:22976
UCSCⁱ	uc033aqm.2 human [Q6ZW49-6]

Organism-specific databases

CTDⁱ	22976
DisGeNETⁱ	22976
EuPathDBⁱ	HostDB:ENSG00000157212.18
GeneCardsⁱ	PAXIP1
H-InvDBⁱ	HIX0007243
HGNCⁱ	HGNC:8624 PAXIP1
HPAⁱ	HPA006694 HPA016950
MalaCardsⁱ	PAXIP1
MIMⁱ	608254 gene
neXtProtⁱ	NX_Q6ZW49
OpenTargetsⁱ	ENSG00000157212
PharmGKBⁱ	PA32964
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG2043 Eukaryota ENOG410XSGS LUCA
GeneTreeⁱ	ENSGT00940000155757
HOVERGENⁱ	HBG061191
InParanoidⁱ	Q6ZW49
KOⁱ	K14972
OMAⁱ	FKCQKFV
OrthoDBⁱ	840249at2759
PhylomeDBⁱ	Q6ZW49
TreeFamⁱ	TF329580

Enzyme and pathway databases

Reactomeⁱ	R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis R-HSA-5693571 Nonhomologous End-Joining (NHEJ)
SignaLinkⁱ	Q6ZW49
SIGNORⁱ	Q6ZW49

Miscellaneous databases

ChiTaRSⁱ	PAXIP1 human
GeneWikiⁱ	PAXIP1
GenomeRNAiⁱ	22976
Protein Ontology More...PROⁱ	PR:Q6ZW49
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000157212 Expressed in 207 organ(s), highest expression level in secondary oocyte
ExpressionAtlasⁱ	Q6ZW49 baseline and differential
Genevisibleⁱ	Q6ZW49 HS

Family and domain databases

CDDⁱ	cd00027 BRCT, 4 hits
Gene3Dⁱ	3.40.50.10190, 5 hits
InterProⁱ	View protein in InterPro IPR001357 BRCT_dom IPR036420 BRCT_dom_sf
Pfamⁱ	View protein in Pfam PF00533 BRCT, 1 hit PF12738 PTCB-BRCT, 2 hits PF16770 RTT107_BRCT_5, 1 hit
SMARTⁱ	View protein in SMART SM00292 BRCT, 5 hits
SUPFAMⁱ	SSF52113 SSF52113, 5 hits
PROSITEⁱ	View protein in PROSITE PS50172 BRCT, 5 hits
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	PAXI1_HUMAN
Accessionⁱ	Q6ZW49Primary (citable) accession number: Q6ZW49 Secondary accession number(s): O15404 Q96HP2
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	July 24, 2007
	Last sequence update:	January 11, 2011
	Last modified:	February 13, 2019
	This is version 129 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

3D-structure, Complete proteome, Reference proteome

Documents

Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
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

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UniProtKB - Q6ZW49 (PAXI1_HUMAN)

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PAX-interacting protein 1

PAXIP1

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

Caution

<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

Enzyme and pathway databases

<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

Other locations

Nucleus

Other locations

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

Mutagenesis

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

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

Secondary structure

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

Domains and Repeats

Region

Motif

Compositional bias

Keywords - Domaini

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

Enzyme and pathway 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

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ