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Protein

Nucleosome-remodeling factor subunit BPTF

Gene

BPTF

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

Functioni

Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependent nucleosome sliding and facilitates transcription of chromatin. Specifically recognizes H3 tails trimethylated on 'Lys-4' (H3K4me3), which mark transcription start sites of virtually all active genes. May also regulate transcription through direct binding to DNA or transcription factors.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei2869Histone H3K4me31
Binding sitei2876Histone H3K4me31
Binding sitei2882Histone H3K4me31
Binding sitei2891Histone H3K4me31

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri390 – 437PHD-type 1PROSITE-ProRule annotationAdd BLAST48
Zinc fingeri2867 – 2918PHD-type 2PROSITE-ProRule annotationAdd BLAST52

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionChromatin regulator
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SignaLinkiQ12830

Names & Taxonomyi

Protein namesi
Recommended name:
Nucleosome-remodeling factor subunit BPTF
Alternative name(s):
Bromodomain and PHD finger-containing transcription factor
Fetal Alz-50 clone 1 protein
Fetal Alzheimer antigen
Gene namesi
Name:BPTF
Synonyms:FAC1, FALZ
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000171634.16
HGNCiHGNC:3581 BPTF
MIMi601819 gene
neXtProtiNX_Q12830

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

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurodevelopmental disorder characterized by variable degrees of developmental delay, intellectual disability, speech delay, postnatal microcephaly, dysmorphic features, and mild abnormalities of the hands and feet.
See also OMIM:617755
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0805311924A → T in NEDDFL. 1 Publication1
Natural variantiVAR_0805322996M → R in NEDDFL. 1 Publication1
Natural variantiVAR_0805333027 – 3046Missing in NEDDFL. 1 PublicationAdd BLAST20

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi2869Y → T: Abolishes binding to histone H3K4me3. 1 Publication1
Mutagenesisi2876Y → E: Induces binding to histone H3K4me2. 2 Publications1
Mutagenesisi2876Y → T: Strongly reduces binding to histone H3K4me3. 2 Publications1
Mutagenesisi2882Y → S: Abolishes binding to histone H3K4me3. 1 Publication1
Mutagenesisi2884G → E or L: Strongly reduces binding to histone H3K4me3. 1 Publication1
Mutagenesisi2886D → N or A: Abolishes binding to histone H3K4me3. 1 Publication1
Mutagenesisi2889Q → K: Strongly reduces binding to histone H3K4me3. 1 Publication1
Mutagenesisi2891W → E or F: Abolishes binding to histone H3K4me3. 2 Publications1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi2186
MalaCardsiBPTF
MIMi617755 phenotype
OpenTargetsiENSG00000171634
PharmGKBiPA162377557

Chemistry databases

ChEMBLiCHEMBL3085621
GuidetoPHARMACOLOGYi2723

Polymorphism and mutation databases

BioMutaiBPTF
DMDMi215274183

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000871761 – 3046Nucleosome-remodeling factor subunit BPTFAdd BLAST3046

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei216PhosphoserineCombined sources1
Modified residuei572PhosphoserineCombined sources1
Modified residuei763PhosphoserineCombined sources1
Modified residuei817PhosphoserineCombined sources1
Modified residuei880N6-acetyllysineCombined sources1
Modified residuei1064PhosphothreonineCombined sources1
Cross-linki1088Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1138Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1209Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1231PhosphoserineCombined sources1
Modified residuei1300PhosphoserineCombined sources1
Modified residuei1303PhosphothreonineCombined sources1
Modified residuei1310PhosphoserineCombined sources1
Cross-linki1730Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei2098PhosphoserineCombined sources1
Modified residuei2155Omega-N-methylarginineCombined sources1
Modified residuei2162Asymmetric dimethylarginineCombined sources1
Modified residuei2184Asymmetric dimethylarginineCombined sources1
Modified residuei2191Asymmetric dimethylarginineCombined sources1
Modified residuei2465PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylation enhances DNA-binding.1 Publication
Highly susceptible to proteolysis.

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ12830
MaxQBiQ12830
PaxDbiQ12830
PeptideAtlasiQ12830
PRIDEiQ12830
ProteomicsDBi58973
58974 [Q12830-2]
58975 [Q12830-4]

PTM databases

iPTMnetiQ12830
PhosphoSitePlusiQ12830
SwissPalmiQ12830

Expressioni

Tissue specificityi

Ubiquitously expressed, with highest levels in testis. Present in kidney, liver and brain. In the brain, highest levels are found in motor cortex (at protein level).4 Publications

Developmental stagei

Abundantly expressed in the fetal brain. Present throughout the gray and white matter of the developing spinal cord at 18-22 gestational weeks. Expressed at low levels in adult brain and spinal cord and reexpressed in neurodegenerative diseases (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000171634 Expressed in 223 organ(s), highest expression level in kidney
CleanExiHS_BPTF
ExpressionAtlasiQ12830 baseline and differential
GenevisibleiQ12830 HS

Organism-specific databases

HPAiHPA029069

Interactioni

Subunit structurei

Interacts with MAZ. Interacts with KEAP1. Part of the nucleosome-remodeling factor (NURF) complex which consists of SMARCA1; BPTF; RBBP4 and RBBP7. Interacts with histone H3K4me3 and to a lesser extent with histone H3-K4Me2.6 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108481, 48 interactors
ComplexPortaliCPX-688 NuRF chromatin remodelling complex
CORUMiQ12830
DIPiDIP-38919N
ELMiQ12830
IntActiQ12830, 21 interactors
MINTiQ12830
STRINGi9606.ENSP00000307208

Chemistry databases

BindingDBiQ12830

Structurei

Secondary structure

13046
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ12830
SMRiQ12830
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ12830

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini240 – 300DDTPROSITE-ProRule annotationAdd BLAST61
Domaini2944 – 3014BromoPROSITE-ProRule annotationAdd BLAST71

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni640 – 749Interaction with KEAP11 PublicationAdd BLAST110
Regioni839 – 921Interaction with MAZ1 PublicationAdd BLAST83

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili574 – 604Sequence analysisAdd BLAST31
Coiled coili978 – 1007Sequence analysisAdd BLAST30
Coiled coili2022 – 2050Sequence analysisAdd BLAST29
Coiled coili2706 – 2732Sequence analysisAdd BLAST27

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi143 – 180Glu-richAdd BLAST38
Compositional biasi149 – 185Asp-richAdd BLAST37
Compositional biasi1709 – 1803Thr-richAdd BLAST95
Compositional biasi2338 – 2361Thr-richAdd BLAST24
Compositional biasi2795 – 2817Pro-richAdd BLAST23
Compositional biasi2848 – 2853Poly-Lys6

Domaini

The second PHD-type zinc finger mediates binding to histone H3K4Me3. Has specificity for trimethyllysine; introducing a mutation in the Tyr-2876 residue can induce binding to dimethyllysine.1 Publication

Sequence similaritiesi

Belongs to the PBTF family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri390 – 437PHD-type 1PROSITE-ProRule annotationAdd BLAST48
Zinc fingeri2867 – 2918PHD-type 2PROSITE-ProRule annotationAdd BLAST52

Keywords - Domaini

Bromodomain, Coiled coil, Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1473 Eukaryota
KOG1632 Eukaryota
COG5076 LUCA
GeneTreeiENSGT00930000150850
HOGENOMiHOG000231041
HOVERGENiHBG080062
InParanoidiQ12830
KOiK11728
OMAiPPQTRIR
OrthoDBiEOG091G00NP
PhylomeDBiQ12830
TreeFamiTF316840

Family and domain databases

Gene3Di1.20.920.10, 2 hits
3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR038028 BPTF
IPR001487 Bromodomain
IPR036427 Bromodomain-like_sf
IPR018359 Bromodomain_CS
IPR018501 DDT_dom
IPR028942 WHIM1_dom
IPR028941 WHIM2_dom
IPR019786 Zinc_finger_PHD-type_CS
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR019787 Znf_PHD-finger
IPR013083 Znf_RING/FYVE/PHD
PANTHERiPTHR22880:SF137 PTHR22880:SF137, 2 hits
PfamiView protein in Pfam
PF00439 Bromodomain, 1 hit
PF02791 DDT, 1 hit
PF00628 PHD, 2 hits
PF15612 WHIM1, 1 hit
PF15613 WSD, 1 hit
PRINTSiPR00503 BROMODOMAIN
SMARTiView protein in SMART
SM00297 BROMO, 1 hit
SM00571 DDT, 1 hit
SM00249 PHD, 2 hits
SUPFAMiSSF47370 SSF47370, 1 hit
SSF57903 SSF57903, 2 hits
PROSITEiView protein in PROSITE
PS00633 BROMODOMAIN_1, 1 hit
PS50014 BROMODOMAIN_2, 1 hit
PS50827 DDT, 1 hit
PS01359 ZF_PHD_1, 2 hits
PS50016 ZF_PHD_2, 2 hits

Sequences (3+)i

Sequence statusi: Complete.

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

This entry has 3 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q12830-1) [UniParc]FASTAAdd 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
MRGRRGRPPK QPAAPAAERC APAPPPPPPP PTSGPIGGLR SRHRGSSRGR
60 70 80 90 100
WAAAQAEVAP KTRLSSPRGG SSSRRKPPPP PPAPPSTSAP GRGGRGGGGG
110 120 130 140 150
RTGGGGGGGH LARTTAARRA VNKVVYDDHE SEEEEEEEDM VSEEEEEEDG
160 170 180 190 200
DAEETQDSED DEEDEMEEDD DDSDYPEEME DDDDDASYCT ESSFRSHSTY
210 220 230 240 250
SSTPGRRKPR VHRPRSPILE EKDIPPLEFP KSSEDLMVPN EHIMNVIAIY
260 270 280 290 300
EVLRNFGTVL RLSPFRFEDF CAALVSQEQC TLMAEMHVVL LKAVLREEDT
310 320 330 340 350
SNTTFGPADL KDSVNSTLYF IDGMTWPEVL RVYCESDKEY HHVLPYQEAE
360 370 380 390 400
DYPYGPVENK IKVLQFLVDQ FLTTNIAREE LMSEGVIQYD DHCRVCHKLG
410 420 430 440 450
DLLCCETCSA VYHLECVKPP LEEVPEDEWQ CEVCVAHKVP GVTDCVAEIQ
460 470 480 490 500
KNKPYIRHEP IGYDRSRRKY WFLNRRLIIE EDTENENEKK IWYYSTKVQL
510 520 530 540 550
AELIDCLDKD YWEAELCKIL EEMREEIHRH MDITEDLTNK ARGSNKSFLA
560 570 580 590 600
AANEEILESI RAKKGDIDNV KSPEETEKDK NETENDSKDA EKNREEFEDQ
610 620 630 640 650
SLEKDSDDKT PDDDPEQGKS EEPTEVGDKG NSVSANLGDN TTNATSEETS
660 670 680 690 700
PSEGRSPVGC LSETPDSSNM AEKKVASELP QDVPEEPNKT CESSNTSATT
710 720 730 740 750
TSIQPNLENS NSSSELNSSQ SESAKAADDP ENGERESHTP VSIQEEIVGD
760 770 780 790 800
FKSEKSNGEL SESPGAGKGA SGSTRIITRL RNPDSKLSQL KSQQVAAAAH
810 820 830 840 850
EANKLFKEGK EVLVVNSQGE ISRLSTKKEV IMKGNINNYF KLGQEGKYRV
860 870 880 890 900
YHNQYSTNSF ALNKHQHRED HDKRRHLAHK FCLTPAGEFK WNGSVHGSKV
910 920 930 940 950
LTISTLRLTI TQLENNIPSS FLHPNWASHR ANWIKAVQMC SKPREFALAL
960 970 980 990 1000
AILECAVKPV VMLPIWRESL GHTRLHRMTS IEREEKEKVK KKEKKQEEEE
1010 1020 1030 1040 1050
TMQQATWVKY TFPVKHQVWK QKGEEYRVTG YGGWSWISKT HVYRFVPKLP
1060 1070 1080 1090 1100
GNTNVNYRKS LEGTKNNMDE NMDESDKRKC SRSPKKIKIE PDSEKDEVKG
1110 1120 1130 1140 1150
SDAAKGADQN EMDISKITEK KDQDVKELLD SDSDKPCKEE PMEVDDDMKT
1160 1170 1180 1190 1200
ESHVNCQESS QVDVVNVSEG FHLRTSYKKK TKSSKLDGLL ERRIKQFTLE
1210 1220 1230 1240 1250
EKQRLEKIKL EGGIKGIGKT STNSSKNLSE SPVITKAKEG CQSDSMRQEQ
1260 1270 1280 1290 1300
SPNANNDQPE DLIQGCSESD SSVLRMSDPS HTTNKLYPKD RVLDDVSIRS
1310 1320 1330 1340 1350
PETKCPKQNS IENDIEEKVS DLASRGQEPS KSKTKGNDFF IDDSKLASAD
1360 1370 1380 1390 1400
DIGTLICKNK KPLIQEESDT IVSSSKSALH SSVPKSTNDR DATPLSRAMD
1410 1420 1430 1440 1450
FEGKLGCDSE SNSTLENSSD TVSIQDSSEE DMIVQNSNES ISEQFRTREQ
1460 1470 1480 1490 1500
DVEVLEPLKC ELVSGESTGN CEDRLPVKGT EANGKKPSQQ KKLEERPVNK
1510 1520 1530 1540 1550
CSDQIKLKNT TDKKNNENRE SEKKGQRTST FQINGKDNKP KIYLKGECLK
1560 1570 1580 1590 1600
EISESRVVSG NVEPKVNNIN KIIPENDIKS LTVKESAIRP FINGDVIMED
1610 1620 1630 1640 1650
FNERNSSETK SHLLSSSDAE GNYRDSLETL PSTKESDSTQ TTTPSASCPE
1660 1670 1680 1690 1700
SNSVNQVEDM EIETSEVKKV TSSPITSEEE SNLSNDFIDE NGLPINKNEN
1710 1720 1730 1740 1750
VNGESKRKTV ITEVTTMTST VATESKTVIK VEKGDKQTVV SSTENCAKST
1760 1770 1780 1790 1800
VTTTTTTVTK LSTPSTGGSV DIISVKEQSK TVVTTTVTDS LTTTGGTLVT
1810 1820 1830 1840 1850
SMTVSKEYST RDKVKLMKFS RPKKTRSGTA LPSYRKFVTK SSKKSIFVLP
1860 1870 1880 1890 1900
NDDLKKLARK GGIREVPYFN YNAKPALDIW PYPSPRPTFG ITWRYRLQTV
1910 1920 1930 1940 1950
KSLAGVSLML RLLWASLRWD DMAAKAPPGG GTTRTETSET EITTTEIIKR
1960 1970 1980 1990 2000
RDVGPYGIRS EYCIRKIICP IGVPETPKET PTPQRKGLRS SALRPKRPET
2010 2020 2030 2040 2050
PKQTGPVIIE TWVAEEELEL WEIRAFAERV EKEKAQAVEQ QAKKRLEQQK
2060 2070 2080 2090 2100
PTVIATSTTS PTSSTTSTIS PAQKVMVAPI SGSVTTGTKM VLTTKVGSPA
2110 2120 2130 2140 2150
TVTFQQNKNF HQTFATWVKQ GQSNSGVVQV QQKVLGIIPS STGTSQQTFT
2160 2170 2180 2190 2200
SFQPRTATVT IRPNTSGSGG TTSNSQVITG PQIRPGMTVI RTPLQQSTLG
2210 2220 2230 2240 2250
KAIIRTPVMV QPGAPQQVMT QIIRGQPVST AVSAPNTVSS TPGQKSLTSA
2260 2270 2280 2290 2300
TSTSNIQSSA SQPPRPQQGQ VKLTMAQLTQ LTQGHGGNQG LTVVIQGQGQ
2310 2320 2330 2340 2350
TTGQLQLIPQ GVTVLPGPGQ QLMQAAMPNG TVQRFLFTPL ATTATTASTT
2360 2370 2380 2390 2400
TTTVSTTAAG TGEQRQSKLS PQMQVHQDKT LPPAQSSSVG PAEAQPQTAQ
2410 2420 2430 2440 2450
PSAQPQPQTQ PQSPAQPEVQ TQPEVQTQTT VSSHVPSEAQ PTHAQSSKPQ
2460 2470 2480 2490 2500
VAAQSQPQSN VQGQSPVRVQ SPSQTRIRPS TPSQLSPGQQ SQVQTTTSQP
2510 2520 2530 2540 2550
IPIQPHTSLQ IPSQGQPQSQ PQVQSSTQTL SSGQTLNQVT VSSPSRPQLQ
2560 2570 2580 2590 2600
IQQPQPQVIA VPQLQQQVQV LSQIQSQVVA QIQAQQSGVP QQIKLQLPIQ
2610 2620 2630 2640 2650
IQQSSAVQTH QIQNVVTVQA ASVQEQLQRV QQLRDQQQKK KQQQIEIKRE
2660 2670 2680 2690 2700
HTLQASNQSE IIQKQVVMKH NAVIEHLKQK KSMTPAEREE NQRMIVCNQV
2710 2720 2730 2740 2750
MKYILDKIDK EEKQAAKKRK REESVEQKRS KQNATKLSAL LFKHKEQLRA
2760 2770 2780 2790 2800
EILKKRALLD KDLQIEVQEE LKRDLKIKKE KDLMQLAQAT AVAAPCPPVT
2810 2820 2830 2840 2850
PAPPAPPAPP PSPPPPPAVQ HTGLLSTPTL PAASQKRKRE EEKDSSSKSK
2860 2870 2880 2890 2900
KKKMISTTSK ETKKDTKLYC ICKTPYDESK FYIGCDRCQN WYHGRCVGIL
2910 2920 2930 2940 2950
QSEAELIDEY VCPQCQSTED AMTVLTPLTE KDYEGLKRVL RSLQAHKMAW
2960 2970 2980 2990 3000
PFLEPVDPND APDYYGVIKE PMDLATMEER VQRRYYEKLT EFVADMTKIF
3010 3020 3030 3040
DNCRYYNPSD SPFYQCAEVL ESFFVQKLKG FKASRSHNNK LQSTAS
Note: No experimental confirmation available.
Length:3,046
Mass (Da):338,262
Last modified:November 25, 2008 - v3
Checksum:i37D7206977A8DB09
GO
Isoform 2 (identifier: Q12830-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     622-747: Missing.

Show »
Length:2,920
Mass (Da):325,124
Checksum:iB4C61BE795C1C555
GO
Isoform 4 (identifier: Q12830-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2522-2664: Missing.

Show »
Length:2,903
Mass (Da):322,217
Checksum:i29C8528E762E7D7D
GO

Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GXF5F5GXF5_HUMAN
Nucleosome-remodeling factor subuni...
BPTF
2,457Annotation score:
E7ETD6E7ETD6_HUMAN
Nucleosome-remodeling factor subuni...
BPTF
2,764Annotation score:
A0A0A0MR81A0A0A0MR81_HUMAN
Nucleosome-remodeling factor subuni...
BPTF
810Annotation score:
J3QQK4J3QQK4_HUMAN
Nucleosome-remodeling factor subuni...
BPTF
339Annotation score:
E9PE19E9PE19_HUMAN
Nucleosome-remodeling factor subuni...
BPTF
2,822Annotation score:
J3QQQ8J3QQQ8_HUMAN
Nucleosome-remodeling factor subuni...
BPTF
420Annotation score:
A0A2R8Y7Q1A0A2R8Y7Q1_HUMAN
Nucleosome-remodeling factor subuni...
BPTF
2,965Annotation score:
J3KSK9J3KSK9_HUMAN
Nucleosome-remodeling factor subuni...
BPTF
484Annotation score:
J3QLW4J3QLW4_HUMAN
Nucleosome-remodeling factor subuni...
BPTF
69Annotation score:
J3KSY0J3KSY0_HUMAN
Nucleosome-remodeling factor subuni...
BPTF
64Annotation score:
There is more potential isoformShow all

Sequence cautioni

The sequence AAA97522 differs from that shown. Several sequencing errors.Curated
The sequence AAA97522 differs from that shown. Reason: Frameshift at positions 136 and 915.Curated
The sequence BAA89208 differs from that shown. Several sequencing errors in the N-terminal part.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti752K → T in AAA97522 (PubMed:7621746).Curated1
Sequence conflicti757N → T in AAA97522 (PubMed:7621746).Curated1
Sequence conflicti969S → F in BAA89208 (PubMed:10662542).Curated1
Sequence conflicti1268E → Q in BAA89208 (PubMed:10662542).Curated1
Sequence conflicti1330S → T in BAA89208 (PubMed:10662542).Curated1
Sequence conflicti1842S → T in BAA89208 (PubMed:10662542).Curated1
Sequence conflicti1842S → T in AAP22284 (PubMed:14609955).Curated1
Sequence conflicti1926A → V in BAA89208 (PubMed:10662542).Curated1
Sequence conflicti1926A → V in AAP22284 (PubMed:14609955).Curated1
Sequence conflicti1932T → S in BAA89208 (PubMed:10662542).Curated1
Sequence conflicti1932T → S in AAP22284 (PubMed:14609955).Curated1
Sequence conflicti1960S → F in BAA89208 (PubMed:10662542).Curated1
Sequence conflicti2393E → K in BAA89208 (PubMed:10662542).Curated1
Sequence conflicti2404Q → R in BAA89208 (PubMed:10662542).Curated1
Sequence conflicti2540T → S in BAA89208 (PubMed:10662542).Curated1
Sequence conflicti2802 – 2803AP → VL in BAA89208 (PubMed:10662542).Curated2
Sequence conflicti2818A → G in BAA89208 (PubMed:10662542).Curated1
Sequence conflicti2832A → V in BAA89208 (PubMed:10662542).Curated1
Sequence conflicti2876Y → G in AAH67234 (PubMed:15489334).Curated1
Sequence conflicti2880K → Q in AAH67234 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0805311924A → T in NEDDFL. 1 Publication1
Natural variantiVAR_0805322996M → R in NEDDFL. 1 Publication1
Natural variantiVAR_0805333027 – 3046Missing in NEDDFL. 1 PublicationAdd BLAST20

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_020402622 – 747Missing in isoform 2. 1 PublicationAdd BLAST126
Alternative sequenceiVSP_0204052522 – 2664Missing in isoform 4. 1 PublicationAdd BLAST143

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB032251 mRNA Translation: BAA89208.1 Sequence problems.
AC006534 Genomic DNA No translation available.
AC107377 Genomic DNA No translation available.
AC134407 Genomic DNA No translation available.
U05237 mRNA Translation: AAA97522.1 Sequence problems.
AY282495 mRNA Translation: AAP22284.1
BC067234 mRNA Translation: AAH67234.1
CCDSiCCDS11673.1 [Q12830-2]
PIRiG01252
RefSeqiNP_004450.3, NM_004459.6 [Q12830-4]
NP_872579.2, NM_182641.3 [Q12830-2]
UniGeneiHs.444200

Genome annotation databases

EnsembliENST00000306378; ENSP00000307208; ENSG00000171634 [Q12830-2]
ENST00000321892; ENSP00000315454; ENSG00000171634 [Q12830-1]
GeneIDi2186
KEGGihsa:2186
UCSCiuc002jgf.4 human [Q12830-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB032251 mRNA Translation: BAA89208.1 Sequence problems.
AC006534 Genomic DNA No translation available.
AC107377 Genomic DNA No translation available.
AC134407 Genomic DNA No translation available.
U05237 mRNA Translation: AAA97522.1 Sequence problems.
AY282495 mRNA Translation: AAP22284.1
BC067234 mRNA Translation: AAH67234.1
CCDSiCCDS11673.1 [Q12830-2]
PIRiG01252
RefSeqiNP_004450.3, NM_004459.6 [Q12830-4]
NP_872579.2, NM_182641.3 [Q12830-2]
UniGeneiHs.444200

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2F6JX-ray2.00A/B/C2865-3033[»]
2F6NX-ray2.00A/B2865-3033[»]
2FSAX-ray1.90A/B/C2865-3033[»]
2FUINMR-A2865-2921[»]
2FUUNMR-A2865-2921[»]
2RI7X-ray1.45A2865-3033[»]
3QZSX-ray1.80A/B2924-3033[»]
3QZTX-ray1.50A2924-3033[»]
3QZVX-ray2.00A2865-3033[»]
3UV2X-ray1.58A2914-3037[»]
5H6YX-ray2.00A2921-3036[»]
6AZEX-ray2.45A2866-3032[»]
ProteinModelPortaliQ12830
SMRiQ12830
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108481, 48 interactors
ComplexPortaliCPX-688 NuRF chromatin remodelling complex
CORUMiQ12830
DIPiDIP-38919N
ELMiQ12830
IntActiQ12830, 21 interactors
MINTiQ12830
STRINGi9606.ENSP00000307208

Chemistry databases

BindingDBiQ12830
ChEMBLiCHEMBL3085621
GuidetoPHARMACOLOGYi2723

PTM databases

iPTMnetiQ12830
PhosphoSitePlusiQ12830
SwissPalmiQ12830

Polymorphism and mutation databases

BioMutaiBPTF
DMDMi215274183

Proteomic databases

EPDiQ12830
MaxQBiQ12830
PaxDbiQ12830
PeptideAtlasiQ12830
PRIDEiQ12830
ProteomicsDBi58973
58974 [Q12830-2]
58975 [Q12830-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306378; ENSP00000307208; ENSG00000171634 [Q12830-2]
ENST00000321892; ENSP00000315454; ENSG00000171634 [Q12830-1]
GeneIDi2186
KEGGihsa:2186
UCSCiuc002jgf.4 human [Q12830-1]

Organism-specific databases

CTDi2186
DisGeNETi2186
EuPathDBiHostDB:ENSG00000171634.16
GeneCardsiBPTF
HGNCiHGNC:3581 BPTF
HPAiHPA029069
MalaCardsiBPTF
MIMi601819 gene
617755 phenotype
neXtProtiNX_Q12830
OpenTargetsiENSG00000171634
PharmGKBiPA162377557
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1473 Eukaryota
KOG1632 Eukaryota
COG5076 LUCA
GeneTreeiENSGT00930000150850
HOGENOMiHOG000231041
HOVERGENiHBG080062
InParanoidiQ12830
KOiK11728
OMAiPPQTRIR
OrthoDBiEOG091G00NP
PhylomeDBiQ12830
TreeFamiTF316840

Enzyme and pathway databases

SignaLinkiQ12830

Miscellaneous databases

ChiTaRSiBPTF human
EvolutionaryTraceiQ12830
GeneWikiiBPTF
GenomeRNAii2186
PROiPR:Q12830
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171634 Expressed in 223 organ(s), highest expression level in kidney
CleanExiHS_BPTF
ExpressionAtlasiQ12830 baseline and differential
GenevisibleiQ12830 HS

Family and domain databases

Gene3Di1.20.920.10, 2 hits
3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR038028 BPTF
IPR001487 Bromodomain
IPR036427 Bromodomain-like_sf
IPR018359 Bromodomain_CS
IPR018501 DDT_dom
IPR028942 WHIM1_dom
IPR028941 WHIM2_dom
IPR019786 Zinc_finger_PHD-type_CS
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR019787 Znf_PHD-finger
IPR013083 Znf_RING/FYVE/PHD
PANTHERiPTHR22880:SF137 PTHR22880:SF137, 2 hits
PfamiView protein in Pfam
PF00439 Bromodomain, 1 hit
PF02791 DDT, 1 hit
PF00628 PHD, 2 hits
PF15612 WHIM1, 1 hit
PF15613 WSD, 1 hit
PRINTSiPR00503 BROMODOMAIN
SMARTiView protein in SMART
SM00297 BROMO, 1 hit
SM00571 DDT, 1 hit
SM00249 PHD, 2 hits
SUPFAMiSSF47370 SSF47370, 1 hit
SSF57903 SSF57903, 2 hits
PROSITEiView protein in PROSITE
PS00633 BROMODOMAIN_1, 1 hit
PS50014 BROMODOMAIN_2, 1 hit
PS50827 DDT, 1 hit
PS01359 ZF_PHD_1, 2 hits
PS50016 ZF_PHD_2, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiBPTF_HUMAN
AccessioniPrimary (citable) accession number: Q12830
Secondary accession number(s): Q6NX67, Q7Z7D6, Q9UIG2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 25, 2008
Last modified: November 7, 2018
This is version 185 of the entry and version 3 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

3D-structure, 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 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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