Human Gene ZBTB38 (uc010huo.3) Description and Page Index
  Description: Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.
RefSeq Summary (NM_001080412): The protein encoded by this gene is a zinc finger transcriptional activator that binds methylated DNA. The encoded protein can form homodimers or heterodimers through the zinc finger domains. In mouse, inhibition of this protein has been associated with apoptosis in some cell types. [provided by RefSeq, Jun 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC015444.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END##
Transcript (Including UTRs)
   Position: hg19 chr3:141,106,489-141,168,632 Size: 62,144 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr3:141,161,231-141,164,818 Size: 3,588 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:141,106,489-141,168,632)mRNA (may differ from genome)Protein (1195 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIneXtProt
OMIMPubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: ZBT38_HUMAN
DESCRIPTION: RecName: Full=Zinc finger and BTB domain-containing protein 38;
FUNCTION: Acts as a transcriptional activator. May be involved in the differentiation and/or survival of late postmitotic neurons (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity).
POLYMORPHISM: Genetic variations in ZBTB38 define the stature quantitative trait locus 10 (STQTL10) [MIM:612221]. Adult height is an easily observable and highly heritable complex continuous trait. Because of this, it is a model trait for studying genetic influence on quantitative traits.
SIMILARITY: Contains 1 BTB (POZ) domain.
SIMILARITY: Contains 10 C2H2-type zinc fingers.
SEQUENCE CAUTION: Sequence=BAC03868.1; Type=Frameshift; Positions=147;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ZBTB38
CDC HuGE Published Literature: ZBTB38
Positive Disease Associations: Body Height , height , Prion Diseases , Prostatic Neoplasms
Related Studies:
  1. Body Height
    Serena Sanna et al. Nature genetics 2008, Common variants in the GDF5-UQCC region are associated with variation in human height., Nature genetics. [PubMed 18193045]
  2. Body Height
    Guillaume Lettre et al. Nature genetics 2008, Identification of ten loci associated with height highlights new biological pathways in human growth., Nature genetics. [PubMed 18391950]
  3. Body Height
    Daniel F Gudbjartsson et al. Nature genetics 2008, Many sequence variants affecting diversity of adult human height., Nature genetics. [PubMed 18391951]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: ZBTB38
Diseases sorted by gene-association score: kuru (9), mature teratoma (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.95 RPKM in Cells - Cultured fibroblasts
Total median expression: 377.57 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -89.30346-0.258 Picture PostScript Text
3' UTR -988.323814-0.259 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR013069 - BTB_POZ
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type
PF00651 - BTB/POZ domain
PF12874 - Zinc-finger of C2H2 type
PF13913 - zinc-finger of a C2HC-type
PF16622 - zinc-finger C2H2-type

SCOP Domains:
48695 - Multiheme cytochromes
54695 - POZ domain
57667 - C2H2 and C2HC zinc fingers

ModBase Predicted Comparative 3D Structure on Q8NAP3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0008327 methyl-CpG binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding

Biological Process:
GO:0006275 regulation of DNA replication
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006974 cellular response to DNA damage stimulus
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0072562 blood microparticle


-  Descriptions from all associated GenBank mRNAs
  AK302568 - Homo sapiens cDNA FLJ56473 complete cds, highly similar to Zinc finger and BTB domain-containing protein 38.
BC172286 - Synthetic construct Homo sapiens clone IMAGE:100068980, MGC:198991 ZBTB38 protein (ZBTB38) mRNA, encodes complete protein.
AK094201 - Homo sapiens cDNA FLJ36882 fis, clone BLADE2000340, highly similar to Zinc finger and BTB domain-containing protein 38.
AL833148 - Homo sapiens mRNA; cDNA DKFZp313H1440 (from clone DKFZp313H1440).
BC008901 - Homo sapiens zinc finger and BTB domain containing 38, mRNA (cDNA clone IMAGE:3614653), with apparent retained intron.
AK025985 - Homo sapiens cDNA: FLJ22332 fis, clone HRC05753.
BC107745 - Homo sapiens zinc finger and BTB domain containing 38, mRNA (cDNA clone IMAGE:6620884), partial cds.
KJ904056 - Synthetic construct Homo sapiens clone ccsbBroadEn_13450 ZBTB38 gene, encodes complete protein.
BC015444 - Homo sapiens cDNA clone IMAGE:4424275.
AK311501 - Homo sapiens cDNA, FLJ18543.
AK307452 - Homo sapiens cDNA, FLJ97400.
AK092355 - Homo sapiens cDNA FLJ35036 fis, clone OCBBF2016690, weakly similar to ZINC FINGER PROTEIN CLONE 647.
AX747496 - Sequence 1021 from Patent EP1308459.
AX721161 - Sequence 121 from Patent WO0220754.
JD215169 - Sequence 196193 from Patent EP1572962.
DQ592479 - Homo sapiens piRNA piR-59591, complete sequence.
JD390470 - Sequence 371494 from Patent EP1572962.
JD147873 - Sequence 128897 from Patent EP1572962.
JD121453 - Sequence 102477 from Patent EP1572962.
JD372146 - Sequence 353170 from Patent EP1572962.
JD303506 - Sequence 284530 from Patent EP1572962.
JD346119 - Sequence 327143 from Patent EP1572962.
JD365991 - Sequence 347015 from Patent EP1572962.
JD055672 - Sequence 36696 from Patent EP1572962.
JD302969 - Sequence 283993 from Patent EP1572962.
JD508106 - Sequence 489130 from Patent EP1572962.
JD250567 - Sequence 231591 from Patent EP1572962.
JD451026 - Sequence 432050 from Patent EP1572962.
JD386381 - Sequence 367405 from Patent EP1572962.
JD190138 - Sequence 171162 from Patent EP1572962.
JD292278 - Sequence 273302 from Patent EP1572962.
JD433650 - Sequence 414674 from Patent EP1572962.
JD154903 - Sequence 135927 from Patent EP1572962.
JD327734 - Sequence 308758 from Patent EP1572962.
JD082679 - Sequence 63703 from Patent EP1572962.
JD495542 - Sequence 476566 from Patent EP1572962.
JD313907 - Sequence 294931 from Patent EP1572962.
BC072415 - Homo sapiens cDNA clone IMAGE:6168734.
JD362991 - Sequence 344015 from Patent EP1572962.
AK055693 - Homo sapiens cDNA FLJ31131 fis, clone IMR322000935.
BC051734 - Homo sapiens zinc finger and BTB domain containing 38, mRNA (cDNA clone IMAGE:4795508).
JD121793 - Sequence 102817 from Patent EP1572962.
JD170957 - Sequence 151981 from Patent EP1572962.
JD349798 - Sequence 330822 from Patent EP1572962.
JD566509 - Sequence 547533 from Patent EP1572962.
BC022936 - Homo sapiens zinc finger and BTB domain containing 38, mRNA (cDNA clone IMAGE:4479355).
JD382108 - Sequence 363132 from Patent EP1572962.
JD411594 - Sequence 392618 from Patent EP1572962.
JD141347 - Sequence 122371 from Patent EP1572962.
JD469554 - Sequence 450578 from Patent EP1572962.
JD101378 - Sequence 82402 from Patent EP1572962.
JD022336 - Sequence 3360 from Patent EP1572962.
JD171227 - Sequence 152251 from Patent EP1572962.
JD034821 - Sequence 15845 from Patent EP1572962.
JD226050 - Sequence 207074 from Patent EP1572962.
JD229153 - Sequence 210177 from Patent EP1572962.
JD073175 - Sequence 54199 from Patent EP1572962.
JD160608 - Sequence 141632 from Patent EP1572962.
JD224117 - Sequence 205141 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AK307452, D3DNF6, NM_001080412, NP_001073881, Q8NAP3, ZBT38_HUMAN
UCSC ID: uc010huo.3
RefSeq Accession: NM_001080412
Protein: Q8NAP3 (aka ZBT38_HUMAN)
CCDS: CCDS43157.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK307452.1
exon count: 3CDS single in 3' UTR: no RNA size: 2659
ORF size: 3588CDS single in intron: no Alignment % ID: 99.81
txCdsPredict score: 7177.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.