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Q9NUA8 (ZBT40_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Zinc finger and BTB domain-containing protein 40
Gene names
Name:ZBTB40
Synonyms:KIAA0478
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1239 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be involved in transcriptional regulation.

Subcellular location

Nucleus Potential.

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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12391239Zinc finger and BTB domain-containing protein 40
PRO_0000047745

Regions

Domain24 – 8764BTB
Zinc finger807 – 83024C2H2-type 1
Zinc finger836 – 85823C2H2-type 2
Zinc finger864 – 88724C2H2-type 3
Zinc finger893 – 91523C2H2-type 4
Zinc finger921 – 94424C2H2-type 5
Zinc finger950 – 97324C2H2-type 6
Zinc finger978 – 100023C2H2-type 7
Zinc finger1006 – 102924C2H2-type 8
Zinc finger1046 – 106924C2H2-type 9
Zinc finger1075 – 109824C2H2-type 10
Zinc finger1104 – 112724C2H2-type 11; atypical
Zinc finger1135 – 115824C2H2-type 12

Amino acid modifications

Modified residue7031Phosphoserine Ref.5

Natural variations

Alternative sequence116 – 16247Missing in isoform 2.
VSP_007757
Alternative sequence270 – 28112EIKGP…EMIVK → NCCVPVEAVPIF in isoform 2.
VSP_007758
Alternative sequence282 – 1239958Missing in isoform 2.
VSP_007759
Natural variant2251A → T.
Corresponds to variant rs6659222 [ dbSNP | Ensembl ].
VAR_052920
Natural variant2671M → I.
Corresponds to variant rs36115661 [ dbSNP | Ensembl ].
VAR_052921
Natural variant5951Y → C. Ref.1
Corresponds to variant rs209729 [ dbSNP | Ensembl ].
VAR_052922
Natural variant9971V → M. Ref.1
Corresponds to variant rs209720 [ dbSNP | Ensembl ].
VAR_052923

Experimental info

Sequence conflict2181A → P in BAA32323. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 5, 2005. Version 4.
Checksum: 1B35528EB104052C

FASTA1,239138,118
        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 

« Hide

Isoform 2 [UniParc].

Checksum: B6ADF1CB81075860
Show »

FASTA23425,555

References

« Hide '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] [Europe PMC] [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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-703, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Embryonic kidney.
[6]"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] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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.
RefSeqNP_001077090.1. NM_001083621.1.
NP_055685.3. NM_014870.3.
UniGeneHs.418966.

3D structure databases

ProteinModelPortalQ9NUA8.
SMRQ9NUA8. Positions 1-112, 733-1157.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115251. 3 interactions.
IntActQ9NUA8. 3 interactions.
MINTMINT-7969810.
STRING9606.ENSP00000364798.

PTM databases

PhosphoSiteQ9NUA8.

Polymorphism databases

DMDM68847213.

Proteomic databases

PaxDbQ9NUA8.
PRIDEQ9NUA8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000375647; ENSP00000364798; ENSG00000184677. [Q9NUA8-1]
ENST00000404138; ENSP00000384527; ENSG00000184677. [Q9NUA8-1]
GeneID9923.
KEGGhsa:9923.
UCSCuc001bft.2. human. [Q9NUA8-1]

Organism-specific databases

CTD9923.
GeneCardsGC01P022778.
H-InvDBHIX0000232.
HGNCHGNC:29045. ZBTB40.
HPAHPA042386.
MIM612106. gene.
neXtProtNX_Q9NUA8.
PharmGKBPA142670544.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5048.
HOGENOMHOG000143421.
HOVERGENHBG058697.
InParanoidQ9NUA8.
KOK10512.
OMACVTQLRP.
OrthoDBEOG7BGHJW.
PhylomeDBQ9NUA8.
TreeFamTF350897.

Gene expression databases

ArrayExpressQ9NUA8.
BgeeQ9NUA8.
CleanExHS_ZBTB40.
GenevestigatorQ9NUA8.

Family and domain databases

Gene3D3.30.160.60. 7 hits.
3.30.710.10. 1 hit.
InterProIPR000210. 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]
PfamPF00651. BTB. 1 hit.
PF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTSM00225. BTB. 1 hit.
SM00355. ZnF_C2H2. 14 hits.
[Graphical view]
SUPFAMSSF54695. SSF54695. 1 hit.
PROSITEPS50097. BTB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 12 hits.
PS50157. ZINC_FINGER_C2H2_2. 11 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSZBTB40. human.
GeneWikiZBTB40.
GenomeRNAi9923.
NextBio37436.
PROQ9NUA8.
SOURCESearch...

Entry information

Entry nameZBT40_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 124 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM