Human Gene ATMIN (uc002ffz.1) Description and Page Index
  Description: Homo sapiens ATM interactor (ATMIN), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr16:81,069,458-81,080,951 Size: 11,494 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr16:81,069,476-81,078,575 Size: 9,100 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:81,069,458-81,080,951)mRNA (may differ from genome)Protein (823 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: ATMIN_HUMAN
DESCRIPTION: RecName: Full=ATM interactor; AltName: Full=ATM/ATR-substrate CHK2-interacting zinc finger protein; Short=ASCIZ; AltName: Full=Zinc finger protein 822;
FUNCTION: Transcription factor. Plays a crucial role in cell survival and RAD51 foci formation in response to methylating DNA damage. Involved in regulating the activity of ATM in the absence of DNA damage. May play a role in stabilizing ATM. Binds to the DYNLL1 promoter and activates its transcription.
SUBUNIT: Interacts via its C-terminus with ATM. Interacts with DYNLL1; this interaction inhibits ATMIN transcriptional activity and hence may play a role in a feedback loop whereby DYNLL1 inhibits transactivation of its own promoter by ATMIN.
SUBCELLULAR LOCATION: Nucleus. Note=Nuclear, in discrete foci during G1 phase.
TISSUE SPECIFICITY: Ubiquitously expressed in normal tissues and cancer cell lines with highest levels in placenta and skeletal muscle.
SIMILARITY: Contains 2 C2H2-type zinc fingers.
SEQUENCE CAUTION: Sequence=BAA24861.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAF83632.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ATMIN
CDC HuGE Published Literature: ATMIN

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 24.92 RPKM in Testis
Total median expression: 488.08 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.4018-0.356 Picture PostScript Text
3' UTR -639.652376-0.269 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
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like

ModBase Predicted Comparative 3D Structure on O43313
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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 BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsemblFlyBase  
 Protein SequenceProtein SequenceProtein Sequence  
 AlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0005515 protein binding
GO:0044212 transcription regulatory region DNA binding
GO:0046872 metal ion binding
GO:0070840 dynein complex binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006974 cellular response to DNA damage stimulus
GO:0010628 positive regulation of gene expression
GO:0044458 motile cilium assembly
GO:0045893 positive regulation of transcription, DNA-templated
GO:1902857 positive regulation of non-motile cilium assembly

Cellular Component:
GO:0005634 nucleus
GO:0016604 nuclear body


-  Descriptions from all associated GenBank mRNAs
  AX775771 - Sequence 41 from Patent WO03048202.
BC002701 - Homo sapiens ATM interactor, mRNA (cDNA clone IMAGE:3612984), partial cds.
AK290943 - Homo sapiens cDNA FLJ76795 complete cds, highly similar to Homo sapiens ATM/ATR-Substrate Chk2-Interacting Zn2+-finger protein, mRNA.
AK301781 - Homo sapiens cDNA FLJ50270 complete cds.
CR749457 - Homo sapiens mRNA; cDNA DKFZp779K1455 (from clone DKFZp779K1455).
AB007891 - Homo sapiens KIAA0431 mRNA.
KJ902320 - Synthetic construct Homo sapiens clone ccsbBroadEn_11714 ATMIN gene, encodes complete protein.
KJ905431 - Synthetic construct Homo sapiens clone ccsbBroadEn_15009 ATMIN gene, encodes complete protein.
AB385334 - Synthetic construct DNA, clone: pF1KA0431, Homo sapiens KIAA0431 gene for KIAA0431 protein, complete cds, without stop codon, in Flexi system.
CU678132 - Synthetic construct Homo sapiens gateway clone IMAGE:100017765 5' read ASCIZ mRNA.
AK025058 - Homo sapiens cDNA: FLJ21405 fis, clone COL03851.
JD040762 - Sequence 21786 from Patent EP1572962.
JD503792 - Sequence 484816 from Patent EP1572962.
JD284657 - Sequence 265681 from Patent EP1572962.
JD289367 - Sequence 270391 from Patent EP1572962.
JD093291 - Sequence 74315 from Patent EP1572962.
JD049459 - Sequence 30483 from Patent EP1572962.
JD237979 - Sequence 219003 from Patent EP1572962.
JD384726 - Sequence 365750 from Patent EP1572962.
JD374476 - Sequence 355500 from Patent EP1572962.
JD223821 - Sequence 204845 from Patent EP1572962.
JD283399 - Sequence 264423 from Patent EP1572962.
JD498024 - Sequence 479048 from Patent EP1572962.
JD561284 - Sequence 542308 from Patent EP1572962.
JD481170 - Sequence 462194 from Patent EP1572962.
JD075275 - Sequence 56299 from Patent EP1572962.
JD188545 - Sequence 169569 from Patent EP1572962.
JD360882 - Sequence 341906 from Patent EP1572962.
JD430968 - Sequence 411992 from Patent EP1572962.
JD532283 - Sequence 513307 from Patent EP1572962.
JD451185 - Sequence 432209 from Patent EP1572962.
JD375922 - Sequence 356946 from Patent EP1572962.
JD497142 - Sequence 478166 from Patent EP1572962.
JD475742 - Sequence 456766 from Patent EP1572962.
JD354450 - Sequence 335474 from Patent EP1572962.
JD538014 - Sequence 519038 from Patent EP1572962.
JD136711 - Sequence 117735 from Patent EP1572962.
JD267472 - Sequence 248496 from Patent EP1572962.
JD447877 - Sequence 428901 from Patent EP1572962.
JD327103 - Sequence 308127 from Patent EP1572962.
JD170455 - Sequence 151479 from Patent EP1572962.
JD261982 - Sequence 243006 from Patent EP1572962.
JD432229 - Sequence 413253 from Patent EP1572962.
JD250944 - Sequence 231968 from Patent EP1572962.
JD095391 - Sequence 76415 from Patent EP1572962.
JD139914 - Sequence 120938 from Patent EP1572962.
JD360573 - Sequence 341597 from Patent EP1572962.
JD081201 - Sequence 62225 from Patent EP1572962.
JD375505 - Sequence 356529 from Patent EP1572962.
JD432903 - Sequence 413927 from Patent EP1572962.
JD081168 - Sequence 62192 from Patent EP1572962.
JD106121 - Sequence 87145 from Patent EP1572962.
JD086372 - Sequence 67396 from Patent EP1572962.
JD345816 - Sequence 326840 from Patent EP1572962.
JD263116 - Sequence 244140 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K4H8, ATMIN_HUMAN, KIAA0431, NM_015251, NP_056066, O43313, Q68DC9, ZNF822
UCSC ID: uc002ffz.1
RefSeq Accession: NM_015251
Protein: O43313 (aka ATMIN_HUMAN)
CCDS: CCDS32494.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_015251.2
exon count: 4CDS single in 3' UTR: no RNA size: 4866
ORF size: 2472CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4948.00frame 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.