Q9NUA8 (ZBT40_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger and BTB domain-containing protein 40

Gene names

Name:	ZBTB40
Synonyms:	KIAA0478

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1239 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be involved in transcriptional regulation.
Subcellular location	Nucleus Potential.
Post-translational modification	Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.5 Ref.6 Ref.7
Sequence similarities	Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 1 BTB (POZ) domain. Contains 12 C2H2-type zinc fingers.
Sequence caution	The sequence BAA32323.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	bone mineralization Non-traceable author statement. Source: UniProtKB regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW response to DNA damage stimulus Inferred from direct assay Ref.6. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from direct assay Ref.5. Source: UniProtKB
Molecular function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NUA8-1)

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.

Isoform 2 (identifier: Q9NUA8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     116-162: Missing.
     270-281: EIKGPQKEMIVK → NCCVPVEAVPIF
     282-1239: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1239	1239	Zinc finger and BTB domain-containing protein 40		PRO_0000047745
Regions
	Domain	24 – 87	64	BTB
	Zinc finger	807 – 830	24	C2H2-type 1
	Zinc finger	836 – 858	23	C2H2-type 2
	Zinc finger	864 – 887	24	C2H2-type 3
	Zinc finger	893 – 915	23	C2H2-type 4
	Zinc finger	921 – 944	24	C2H2-type 5
	Zinc finger	950 – 973	24	C2H2-type 6
	Zinc finger	978 – 1000	23	C2H2-type 7
	Zinc finger	1006 – 1029	24	C2H2-type 8
	Zinc finger	1046 – 1069	24	C2H2-type 9
	Zinc finger	1075 – 1098	24	C2H2-type 10
	Zinc finger	1104 – 1127	24	C2H2-type 11; atypical
	Zinc finger	1135 – 1158	24	C2H2-type 12
Amino acid modifications
	Modified residue	183	1	Phosphoserine Ref.6
	Modified residue	190	1	Phosphoserine Ref.6
	Modified residue	337	1	Phosphothreonine Ref.7
	Modified residue	412	1	Phosphothreonine Ref.7
	Modified residue	416	1	Phosphothreonine Ref.7
	Modified residue	418	1	Phosphothreonine Ref.7
	Modified residue	703	1	Phosphoserine Ref.6
	Modified residue	728	1	Phosphoserine Ref.5
Natural variations
	Alternative sequence	116 – 162	47	Missing in isoform 2.		VSP_007757
	Alternative sequence	270 – 281	12	EIKGP…EMIVK → NCCVPVEAVPIF in isoform 2.		VSP_007758
	Alternative sequence	282 – 1239	958	Missing in isoform 2.		VSP_007759
	Natural variant	225	1	A → T. Corresponds to variant rs6659222 [ dbSNP | Ensembl ].		VAR_052920
	Natural variant	267	1	M → I. Corresponds to variant rs36115661 [ dbSNP | Ensembl ].		VAR_052921
	Natural variant	595	1	Y → C. Ref.1 Corresponds to variant rs209729 [ dbSNP | Ensembl ].		VAR_052922
	Natural variant	997	1	V → M. Ref.1 Corresponds to variant rs209720 [ dbSNP | Ensembl ].		VAR_052923
Experimental info
	Sequence conflict	218	1	A → P in BAA32323. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 5, 2005. Version 4. Checksum: 1B35528EB104052C	FASTA	1,239	138,118
	10 20 30 40 50 60 MELPNYSRQL LQQLYTLCKE QQFCDCTISI GTIYFRAHKL VLAAASLLFK TLLDNTDTIS 70 80 90 100 110 120 IDASVVSPEE FALLLEMMYT GKLPVGKHNF SKIISLADSL QMFDVAVSCK NLLTSLVNCS 130 140 150 160 170 180 VQGQVVRDVS APSSETFRKE PEKPQVEILS SEGAGEPHSS PELAATPGGP VKAETEEAAH 190 200 210 220 230 240 SVSQEMSVNS PTAQESQRNA ETPAETPTTA EACSPSPAVQ TFSEAKKTST EPGCERKHYQ 250 260 270 280 290 300 LNFLLENEGV FSDALMVTQD VLKKLEMCSE IKGPQKEMIV KCFEGEGGHS AFQRILGKVR 310 320 330 340 350 360 EESLDVQTVV SLLRLYQYSN PAVKTALLDR KPEDVDTVQP KGSTEEGKTL SVLLLEHKED 370 380 390 400 410 420 LIQCVTQLRP IMESLETAKE EFLTGTEKRV ILNCCEGRTP KETIENLLHR MTEEKTLTAE 430 440 450 460 470 480 GLVKLLQAVK TTFPNLGLLL EKLQKSATLP STTVQPSPDD YGTELLRRYH ENLSEIFTDN 490 500 510 520 530 540 QILLKMISHM TSLAPGEREV MEKLVKRDSG SGGFNSLISA VLEKQTLSAT AIWQLLLVVQ 550 560 570 580 590 600 ETKTCPLDLL MEEIRREPGA DAFFRAVTTP EHATLETILR HNQLILEAIQ QKIEYKLFTS 610 620 630 640 650 660 EEEHLAETVK EILSIPSETA SPEASLRAVL SRAMEKSVPA IEICHLLCSV HKSFPGLQPV 670 680 690 700 710 720 MQELAYIGVL TKEDGEKETW KVSNKFHLEA NNKEDEKAAK EDSQPGEQND QGETGSLPGQ 730 740 750 760 770 780 QEKEASASPD PAKKSFICKA CDKSFHFYCR LKVHMKRCRV AKSKQVQCKE CSETKDSKKE 790 800 810 820 830 840 LDKHQLEAHG AGGEPDAPKK KKKRLPVTCD LCGREFAHAS GMQYHKLTEH FDEKPFSCEE 850 860 870 880 890 900 CGAKFAANST LKNHLRLHTG DRPFMCKHCL MTFTQASALA YHTKKKHSEG KMYACQYCDA 910 920 930 940 950 960 VFAQSIELSR HVRTHTGDKP YVCRDCGKGF RQANGLSIHL HTFHNIEDPY DCKKCRMSFP 970 980 990 1000 1010 1020 TLQDHRKHIH EVHSKEYHPC PTCGKIFSAP SMLERHVVTH VGGKPFSCGI CNKAYQQLSG 1030 1040 1050 1060 1070 1080 LWYHNRTHHP DVFAAQNHRS SKFSSLQCSS CDKTFPNTIE HKKHIKAEHA DMKFHECDQC 1090 1100 1110 1120 1130 1140 KELFPTPALL QVHVKCQHSG SQPFRCLYCA ATFRFPGALQ HHVTTEHFKQ SETTFPCELC 1150 1160 1170 1180 1190 1200 GELFTSQAQL DSHLESEHPK VMSTETQAAA SQMAQVIQTP EPVAPTEQVI TLEETQLAGS 1210 1220 1230 QVFVTLPDSQ ASQASSELVA VTVEDLLDGT VTLICGEAK
	Isoform 2 [UniParc]. Checksum: B6ADF1CB81075860	FASTA	234	25,555
	10 20 30 40 50 60 MELPNYSRQL LQQLYTLCKE QQFCDCTISI GTIYFRAHKL VLAAASLLFK TLLDNTDTIS 70 80 90 100 110 120 IDASVVSPEE FALLLEMMYT GKLPVGKHNF SKIISLADSL QMFDVAVSCK NLLTSLAATP 130 140 150 160 170 180 GGPVKAETEE AAHSVSQEMS VNSPTAQESQ RNAETPAETP TTAEACSPSP AVQTFSEAKK 190 200 210 220 230 TSTEPGCERK HYQLNFLLEN EGVFSDALMV TQDVLKKLEM CSNCCVPVEA VPIF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization of cDNA clones in size-fractionated cDNA libraries from human brain." Seki N., Ohira M., Nagase T., Ishikawa K., Miyajima N., Nakajima D., Nomura N., Ohara O. DNA Res. 4:345-349(1997) [PubMed: 9455484] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS CYS-595 AND MET-997. Tissue: Brain.
[2]	"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract] Cited for: SEQUENCE REVISION.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Tongue.
[4]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-728, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[6]	"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-183; SER-190 AND SER-703, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[7]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-337; THR-412; THR-416 AND THR-418, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB007947 mRNA. Translation: BAA32323.2. Different initiation. AK095273 mRNA. Translation: BAC04518.1. AL035703 Genomic DNA. Translation: CAI22040.1.
IPI	IPI00332552. IPI00883733.
RefSeq	NP_001077090.1. NM_001083621.1. NP_055685.3. NM_014870.3.
UniGene	Hs.418966.
3D structure databases
ProteinModelPortal	Q9NUA8.
SMR	Q9NUA8. Positions 3-114, 733-1159.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NUA8. 1 interaction.
STRING	Q9NUA8.
PTM databases
PhosphoSite	Q9NUA8.
Polymorphism databases
DMDM	68847213.
Proteomic databases
PRIDE	Q9NUA8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000375647; ENSP00000364798; ENSG00000184677. ENST00000404138; ENSP00000384527; ENSG00000184677.
GeneID	9923.
KEGG	hsa:9923.
NMPDR	fig|9606.3.peg.505.
UCSC	uc001bft.2. human.
Organism-specific databases
CTD	9923.
GeneCards	GC01P022778.
H-InvDB	HIX0000232.
HGNC	HGNC:29045. ZBTB40.
HPA	HPA042386.
neXtProt	NX_Q9NUA8.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG17234.
GeneTree	ENSGT00440000034257.
HOGENOM	HBG126355.
HOVERGEN	HBG058697.
InParanoid	Q9NUA8.
OMA	ILNCCEG.
OrthoDB	EOG4SQWVW.
PhylomeDB	Q9NUA8.
Gene expression databases
ArrayExpress	Q9NUA8.
Bgee	Q9NUA8.
CleanEx	HS_ZBTB40.
Genevestigator	Q9NUA8.
GermOnline	ENSG00000184677. Homo sapiens.
Family and domain databases
InterPro	IPR000210. BTB/POZ-like. IPR011333. BTB/POZ_fold. IPR013069. BTB_POZ. IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Gene3D	G3DSA:3.30.710.10. BTB/POZ_fold. 1 hit. G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 6 hits.
KO	K10512.
Pfam	PF00651. BTB. 1 hit. PF00096. zf-C2H2. 5 hits. [Graphical view]
SMART	SM00225. BTB. 1 hit. SM00355. ZnF_C2H2. 14 hits. [Graphical view]
SUPFAM	SSF54695. BTB/POZ_fold. 1 hit.
PROSITE	PS50097. BTB. 1 hit. PS00028. ZINC_FINGER_C2H2_1. 12 hits. PS50157. ZINC_FINGER_C2H2_2. 11 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	37436.

Entry information

Entry name

ZBT40_HUMAN

Accession

Primary (citable) accession number: Q9NUA8
Secondary accession number(s): O75066, Q5TFU5, Q8N1R1

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 20, 2001
Last sequence update:	July 5, 2005
Last modified:	January 25, 2012
This is version 102 of the entry and version 4 of the sequence. [Complete history]

Entry status

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.